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 MED15 51586 broad.mit.edu 37 22 20922826 20922826 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr22:20922826G>T ENST00000263205.7 + 8 1129 c.1060G>T c.(1060-1062)Gtg>Ttg p.V354L MED15_ENST00000542773.1_Missense_Mutation_p.159_159insL|MED15_ENST00000292733.7_Missense_Mutation_p.V354L|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000406969.1_Missense_Mutation_p.V328L|MED15_ENST00000425759.2_Missense_Mutation_p.V243L|MED15_ENST00000541476.1_Missense_Mutation_p.V328L|MED15_ENST00000382974.2_Missense_Mutation_p.V283L NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 354 Pro-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding p.V354L(2) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) TCCGATGGTGGTGCAGCAGCC 0.597000 4 27 1.23904e-05 1.71612e-05 0.000602 1 0 FAM19A1 407738 broad.mit.edu 37 3 68055839 68055839 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:68055839C>A ENST00000478136.1 + 2 560 c.70C>A c.(70-72)Cat>Aat p.H24N FAM19A1_ENST00000496687.1_Missense_Mutation_p.H24N NM_213609.3 NP_998774.2 Q7Z5A9 F19A1_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 24 endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 7 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) GCTACTCTGCCATGGATCCCT 0.502000 16 141 2.23348e-06 3.19983e-06 0.004007 1 0 FOLH1 2346 broad.mit.edu 37 11 49175441 49175441 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:49175441C>A ENST00000340334.7 - 18 2250 c.1882G>T c.(1882-1884)Gct>Tct p.A628S FOLH1_ENST00000356696.3_Missense_Mutation_p.A643S|FOLH1_ENST00000343844.4_Missense_Mutation_p.A335S|FOLH1_ENST00000256999.2_Missense_Mutation_p.A643S|FOLH1_ENST00000533034.1_Missense_Mutation_p.A628S NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 643 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity p.A643S(2) NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) AACTTGGAAGCAATTTCTGTA 0.313000 10 66 7.48243e-07 1.11015e-06 0.006214 1 0 ZNF385D 79750 broad.mit.edu 37 3 21606170 21606170 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:21606170G>T ENST00000281523.2 - 3 690 c.172C>A c.(172-174)Ccg>Acg p.P58T ZNF385D-AS1_ENST00000412369.1_RNA|ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 58 nucleus nucleic acid binding|zinc ion binding p.P58T(1) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 TTCTGAATCGGGTCCATCTGT 0.358000 13 57 4.3838e-07 6.62206e-07 0.001855 1 0 ARSI 340075 broad.mit.edu 37 5 149676935 149676935 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:149676935C>A ENST00000328668.7 - 2 2131 c.1552G>T c.(1552-1554)Ggt>Tgt p.G518C NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 518 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding p.G518C(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCCAAGCACCCCCATTAAAG 0.607000 17 120 3.32936e-07 5.10638e-07 0.006122 1 0 PABPC5 140886 broad.mit.edu 37 X 90690795 90690795 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:90690795G>C ENST00000312600.3 + 2 433 c.219G>C c.(217-219)gaG>gaC p.E73D PABPC5_ENST00000373105.1_Intron NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 73 RRM 1. cytoplasm nucleotide binding|RNA binding p.E73D(1) central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 CGGATGCAGAGTGGGCCTTGA 0.532000 7 37 0 0 0.001984 0 0 SF3B1 23451 broad.mit.edu 37 2 198265462 198265462 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:198265462C>A ENST00000335508.5 - 18 2786 c.2695G>T c.(2695-2697)Gct>Tct p.A899S NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 899 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding p.A899S(1) NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) TCTTGGAAAGCATAAAGAATA 0.313000 Mis myelodysplastic syndrome 11 78 4.36969e-10 7.6127e-10 0.001855 1 0 HELLS 3070 broad.mit.edu 37 10 96333850 96333850 + Missense_Mutation SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr10:96333850A>G ENST00000348459.5 + 8 716 c.611A>G c.(610-612)aAg>aGg p.K204R HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394044.1_Missense_Mutation_p.K204R|HELLS_ENST00000394045.1_Missense_Mutation_p.K204R|HELLS_ENST00000371332.4_Missense_Mutation_p.K204R NM_018063.3 NP_060533.2 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 204 cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity p.K204R(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) CCAGTCCGGAAGTGTAATGGT 0.393000 32 170 0 0 0.002836 0 0 ATP5G3 518 broad.mit.edu 37 2 176043042 176043042 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:176043042C>G ENST00000284727.4 - 5 3427 c.403G>C c.(403-405)Gct>Cct p.A135P ATP5G3_ENST00000409194.1_Missense_Mutation_p.A135P|ATP5G3_ENST00000392541.3_Missense_Mutation_p.A135P NM_001002258.4|NM_001689.4 NP_001002258.1|NP_001680.1 P48201 AT5G3_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9) 135 ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|lipid binding|protein binding p.A135P(1) large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.147) ATCAAGAAAGCAACCATCAAA 0.398000 15 110 0 0 0.003163 0 0 GLP1R 2740 broad.mit.edu 37 6 39047364 39047364 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:39047364C>A ENST00000373256.4 + 11 1111 c.1068C>A c.(1066-1068)ctC>ctA p.L356L NM_002062.3 NP_002053.3 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor 356 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled p.L356L(1) breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) CGCTGACACTCATCCCCCTGC 0.577000 9 71 0.000978159 0.00123194 0.000978 1 0 INHBA 3624 broad.mit.edu 37 7 41730102 41730102 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:41730102C>T ENST00000242208.4 - 3 673 c.427G>A c.(427-429)Gaa>Aaa p.E143K INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.E143K|AC005027.3_ENST00000416150.1_RNA NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 143 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity p.K142_E143>NK(1) biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 TCACTGCCTTCCTTGGAAATC 0.502000 TSP Lung(11;0.080) 15 47 0 0 0.003163 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29938182 29938182 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:29938182G>T ENST00000378993.1 + 8 1701 c.1028G>T c.(1027-1029)cGa>cTa p.R343L IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R343L NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 343 Ig-like C2-type 3. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity p.R343Q(2)|p.R343L(2) biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 AATGGACGTCGACACGCCAGC 0.438000 32 95 1.08312e-15 2.20146e-15 0.001786 1 0 FBXW12 285231 broad.mit.edu 37 3 48416855 48416855 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:48416855G>T ENST00000296438.5 + 5 484 c.298G>T c.(298-300)Gag>Tag p.E100* FBXW12_ENST00000445170.1_Nonsense_Mutation_p.E81*|FBXW12_ENST00000415155.1_Nonsense_Mutation_p.E100*|FBXW12_ENST00000436231.1_5'UTR NM_207102.2 NP_996985.2 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 100 p.E100*(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ATTTGAGACGGAGTTGGCTTA 0.393000 9 69 9.70103e-10 1.66113e-09 0.000673 1 0 LPHN2 23266 broad.mit.edu 37 1 82432281 82432281 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:82432281G>T ENST00000370728.1 + 15 2970 c.2325G>T c.(2323-2325)ctG>ctT p.L775L LPHN2_ENST00000370727.1_Silent_p.L775L|LPHN2_ENST00000335786.5_Silent_p.L775L|LPHN2_ENST00000370725.1_Silent_p.L775L|LPHN2_ENST00000319517.6_Silent_p.L762L|LPHN2_ENST00000271029.4_Silent_p.L775L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Silent_p.L762L|LPHN2_ENST00000394879.1_Silent_p.L762L|LPHN2_ENST00000370721.1_Silent_p.L700L|LPHN2_ENST00000370713.1_Silent_p.L762L|LPHN2_ENST00000370730.1_Silent_p.L775L|LPHN2_ENST00000370717.2_Silent_p.L775L|LPHN2_ENST00000370715.1_Silent_p.L762L|LPHN2_ENST00000359929.3_Silent_p.L762L O95490 LPHN2_HUMAN latrophilin 2 775 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.L762L(1)|p.L775L(1) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TTTTTACCCTGCCACACATTG 0.418000 24 141 2.32416e-17 4.98746e-17 0.002299 1 0 SGCG 6445 broad.mit.edu 37 13 23853548 23853548 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr13:23853548G>T ENST00000218867.3 + 5 560 c.436G>T c.(436-438)Gac>Tac p.D146Y SGCG_ENST00000545013.1_Missense_Mutation_p.D146Y|SGCG_ENST00000537476.1_Missense_Mutation_p.D146Y NM_000231.2 NP_000222.1 Q13326 SGCG_HUMAN sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 146 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma p.D146Y(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188) all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205) CAACTCCAACGACGGCAAGCC 0.383000 10 39 0.000978159 0.00123194 0.000978 1 0 CPS1 1373 broad.mit.edu 37 2 211513216 211513216 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:211513216C>T ENST00000233072.5 + 27 3552 c.3356C>T c.(3355-3357)gCa>gTa p.A1119V CPS1_ENST00000430249.2_Missense_Mutation_p.A1125V|CPS1_ENST00000451903.2_Missense_Mutation_p.A668V NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1119 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity p.A1119V(1)|p.A1125V(1) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CTGGAATTTGCAAAGTCTGTG 0.323000 24 140 0 0 0.004656 0 0 SERPINA6 866 broad.mit.edu 37 14 94770786 94770786 + Missense_Mutation SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:94770786A>G ENST00000341584.3 - 5 1333 c.1187T>C c.(1186-1188)cTt>cCt p.L396P NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 396 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding p.L396P(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) CGCCAGGAAAAGGCTGCTCCA 0.527000 3 107 0 0 0.000248 0 0 NLRP10 338322 broad.mit.edu 37 11 7981773 7981773 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:7981773G>T ENST00000328600.2 - 2 1547 c.1386C>A c.(1384-1386)taC>taA p.Y462* NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 462 NACHT. ATP binding p.Y462*(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGCGGAAGCTGTAGAACTTCT 0.507000 24 146 3.7963e-18 8.28887e-18 0.003330 1 0 ZNF260 339324 broad.mit.edu 37 19 37005408 37005408 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:37005408C>A ENST00000523638.1 - 3 1854 c.733G>T c.(733-735)Gag>Tag p.E245* ZNF260_ENST00000592282.1_Nonsense_Mutation_p.E245*|ZNF260_ENST00000593142.1_Nonsense_Mutation_p.E245*|ZNF260_ENST00000588993.1_Nonsense_Mutation_p.E245* NM_001166036.1|NM_001166037.1|NM_001166038.1 NP_001159508.1|NP_001159509.1|NP_001159510.1 Q3ZCT1 ZN260_HUMAN zinc finger protein 260 245 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E245*(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8) 15 Esophageal squamous(110;0.162) TAAGGTTTCTCTCCTGTGTGA 0.418000 30 129 5.90632e-09 9.6825e-09 0.002445 1 0 INHBA 3624 broad.mit.edu 37 7 41730103 41730103 + Missense_Mutation SNP C C A rs151132792 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:41730103C>A ENST00000242208.4 - 3 672 c.426G>T c.(424-426)aaG>aaT p.K142N INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.K142N|AC005027.3_ENST00000416150.1_RNA NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 142 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity p.K142_E143>NK(1) biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 CACTGCCTTCCTTGGAAATCT 0.502000 TSP Lung(11;0.080) 13 47 9.31168e-06 1.30782e-05 0.001855 1 0 C3orf27 23434 broad.mit.edu 37 3 128292497 128292497 + Missense_Mutation SNP C C T rs141693917 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:128292497C>T ENST00000356020.2 - 3 1042 c.76G>A c.(76-78)Gtc>Atc p.V26I NM_007354.2 NP_031380.1 O15544 GR6_HUMAN chromosome 3 open reading frame 27 26 p.V26I(2) large_intestine(2)|lung(5)|prostate(1) 8 GBM - Glioblastoma multiforme(114;0.176) AGGCGGGAGACGCTGAGTCTA 0.592000 10 28 0 0 0.000978 0 0 ASXL3 80816 broad.mit.edu 37 18 31323602 31323602 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr18:31323602C>G ENST00000269197.5 + 12 3790 c.3790C>G c.(3790-3792)Cta>Gta p.L1264V NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1264 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding p.L1264V(1) breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ATCCTCTGTCCTAATGTCTGT 0.378000 19 76 0 0 0.007413 0 0 SMPD3 55512 broad.mit.edu 37 16 68405827 68405827 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:68405827G>T ENST00000219334.5 - 3 861 c.258C>A c.(256-258)tcC>tcA p.S86S SMPD3_ENST00000568373.1_Silent_p.S86S|SMPD3_ENST00000563226.1_Silent_p.S86S NM_018667.3 NP_061137.1 Q9NY59 NSMA2_HUMAN sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 86 cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity p.S86S(1) breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) ACTGCAGTGGGGACCAGAAGA 0.657000 5 63 0.000602214 0.000768131 0.000602 1 0 NALCN 259232 broad.mit.edu 37 13 102047695 102047695 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr13:102047695T>A ENST00000251127.6 - 3 211 c.130A>T c.(130-132)Atc>Ttc p.I44F NALCN_ENST00000376200.5_Missense_Mutation_p.I44F|NALCN_ENST00000376196.3_Missense_Mutation_p.I44F|NALCN_ENST00000470333.1_5'UTR NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 44 integral to membrane sodium channel activity|voltage-gated ion channel activity p.I44F(1) NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ATGGCACAGATGCGCAGCAAA 0.433000 9 54 0 0 0.004482 0 0 TM4SF1 4071 broad.mit.edu 37 3 149093324 149093324 + Missense_Mutation SNP A A T rs140811683 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:149093324A>T ENST00000472441.1 - 1 175 c.52T>A c.(52-54)Tgt>Agt p.C18S TM4SF1_ENST00000305366.3_Missense_Mutation_p.C107S P30408 T4S1_HUMAN transmembrane 4 L six family member 1 107 integral to plasma membrane p.C107S(1) endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) ACAATGACACAGTAGCCAGAT 0.512000 8 56 0 0 0.003080 0 0 LMTK2 22853 broad.mit.edu 37 7 97822738 97822738 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:97822738C>G ENST00000297293.5 + 11 3254 c.2961C>G c.(2959-2961)ttC>ttG p.F987L NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 987 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.F987L(2) NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CAGCACCCTTCCCAGCCTCTG 0.567000 12 177 0 0 0.001855 0 0 DNAH8 1769 broad.mit.edu 37 6 38905924 38905924 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:38905924C>T ENST00000359357.3 + 76 11341 c.11087C>T c.(11086-11088)aCa>aTa p.T3696I DNAH8_ENST00000449981.2_Missense_Mutation_p.T3913I|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.T3660I dynein, axonemal, heavy chain 8 p.T3696I(2) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TTCCTCATCACAGAGATGAGC 0.522000 37 69 0 0 0.004878 0 0 SIMC1 375484 broad.mit.edu 37 5 175716950 175716950 + Silent SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:175716950A>G ENST00000443967.1 + 4 773 c.366A>G c.(364-366)gtA>gtG p.V122V SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000503595.1_3'UTR|SIMC1_ENST00000429602.2_Silent_p.V141V SUMO-interacting motifs containing 1 p.V122V(1) ACACCTTTGTAGGTCCCCCAC 0.493000 3 106 0 0 0.004672 0 0 DIDO1 11083 broad.mit.edu 37 20 61528277 61528277 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:61528277C>A ENST00000266070.4 - 7 1985 c.1660G>T c.(1660-1662)Ggc>Tgc p.G554C DIDO1_ENST00000395343.1_Missense_Mutation_p.G554C|DIDO1_ENST00000395335.2_Missense_Mutation_p.G554C|DIDO1_ENST00000395340.1_Missense_Mutation_p.G554C NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 554 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.G554C(1) NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) ACCGCGGAGCCTGGAGGGGCT 0.552000 8 57 2.17888e-05 2.98476e-05 0.006214 1 0 AGAP1 116987 broad.mit.edu 37 2 236706518 236706518 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:236706518G>T ENST00000409538.1 + 7 2080 c.1584G>T c.(1582-1584)gtG>gtT p.V528V AGAP1_ENST00000409457.1_Silent_p.V263V|AGAP1_ENST00000428334.2_Silent_p.V102V|AGAP1_ENST00000304032.7_Silent_p.V263V|AGAP1_ENST00000336665.5_Silent_p.V263V Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 263 PH. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding p.V263V(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TGTCTGCCGTGCACATCAGCC 0.493000 42 205 1.62957e-23 3.7897e-23 0.001951 1 0 OR2M7 391196 broad.mit.edu 37 1 248486947 248486947 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:248486947G>T ENST00000317965.2 - 1 952 c.924C>A c.(922-924)ggC>ggA p.G308G NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G308G(1) breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTCCAGACTTGCCCTTTCCTA 0.378000 14 53 4.7546e-09 7.87186e-09 0.004007 1 0 TSHZ2 128553 broad.mit.edu 37 20 51871780 51871780 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:51871780G>T ENST00000371497.5 + 2 2670 c.1783G>T c.(1783-1785)Gcc>Tcc p.A595S TSHZ2_ENST00000329613.6_Missense_Mutation_p.A592S|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A592S NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 595 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A595S(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CACACACCTGGCCCCTTACAC 0.512000 28 153 4.22769e-11 7.68672e-11 0.006320 1 0 SIAH3 283514 broad.mit.edu 37 13 46425646 46425646 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr13:46425646G>T ENST00000400405.2 - 1 225 c.119C>A c.(118-120)cCc>cAc p.P40H NM_198849.2 NP_942146.2 Q8IW03 SIAH3_HUMAN siah E3 ubiquitin protein ligase family member 3 40 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding p.P40H(1) large_intestine(3)|lung(7)|ovary(1)|skin(1) 12 GTTGTGTGTGGGGTTGACGAC 0.537000 11 76 0.00010058 0.000133042 0.001368 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125232346 125232346 + Nonsense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:125232346A>T ENST00000431078.1 + 7 1313 c.949A>T c.(949-951)Aaa>Taa p.K317* NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 317 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding p.K317*(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) AGTACCAGGAAAACCTGGGAC 0.368000 7 22 0 0 0.001984 0 0 WSB1 26118 broad.mit.edu 37 17 25631888 25631888 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:25631888G>T ENST00000262394.2 + 4 877 c.561G>T c.(559-561)gtG>gtT p.V187V WSB1_ENST00000348811.2_Silent_p.V41V|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000581185.1_Silent_p.V187V|WSB1_ENST00000427287.2_Silent_p.V156V|WSB1_ENST00000579733.1_Silent_p.V41V NM_015626.8 NP_056441.6 Q9Y6I7 WSB1_HUMAN WD repeat and SOCS box containing 1 187 intracellular signal transduction intracellular protein binding p.V187V(1) lung(3) 3 all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152) BRCA - Breast invasive adenocarcinoma(3;0.0152) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) TGATCCTGGTGTCAGCTTCAA 0.378000 28 117 6.38683e-12 1.18714e-11 0.001512 1 0 PTPRT 11122 broad.mit.edu 37 20 41306576 41306576 + Silent SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:41306576G>C ENST00000373198.3 - 7 1318 c.1083C>G c.(1081-1083)ctC>ctG p.L361L PTPRT_ENST00000373193.3_Silent_p.L361L|PTPRT_ENST00000373187.1_Silent_p.L361L|PTPRT_ENST00000373190.1_Silent_p.L361L|PTPRT_ENST00000373201.1_Silent_p.L361L|PTPRT_ENST00000356100.2_Silent_p.L361L|PTPRT_ENST00000373184.1_Silent_p.L361L NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 361 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.L361L(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTCGTGTGAGGAGCACTCGGA 0.572000 8 138 0 0 0.004482 0 0 OSBP2 23762 broad.mit.edu 37 22 31285535 31285535 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr22:31285535G>A ENST00000332585.6 + 7 1639 c.1535G>A c.(1534-1536)cGc>cAc p.R512H OSBP2_ENST00000403222.3_Missense_Mutation_p.R346H|OSBP2_ENST00000382310.3_Intron|OSBP2_ENST00000401475.1_Missense_Mutation_p.R145H|OSBP2_ENST00000446658.2_Missense_Mutation_p.R511H|OSBP2_ENST00000437268.2_Missense_Mutation_p.R254H|OSBP2_ENST00000407373.1_Missense_Mutation_p.R339H|OSBP2_ENST00000535268.1_Missense_Mutation_p.R56H NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 512 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 AGGCGAGTCCGCATTCCCAAC 0.597000 5 199 0 0 0.000602 0 0 F5 2153 broad.mit.edu 37 1 169510755 169510755 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:169510755G>T ENST00000367796.3 - 13 3789 c.3588C>A c.(3586-3588)agC>agA p.S1196R F5_ENST00000367797.3_Missense_Mutation_p.S1191R P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1191 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity p.S1191R(1) NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GGGTCACCTGGCTGAGGTCTG 0.512000 102 313 8.27256e-43 1.9982e-42 0.003610 1 0 TNN 63923 broad.mit.edu 37 1 175096160 175096160 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:175096160C>A ENST00000239462.4 + 13 3097 c.2984C>A c.(2983-2985)cCc>cAc p.P995H NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 995 Fibronectin type-III 9. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix p.P995H(2) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ACCTGGACGCCCCCCTCTGCT 0.502000 13 124 7.03913e-09 1.15018e-08 0.001368 1 0 MYH8 4626 broad.mit.edu 37 17 10296216 10296216 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:10296216G>A ENST00000403437.2 - 37 5489 c.5395C>T c.(5395-5397)Cgt>Tgt p.R1799C CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1799 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle p.R1799C(1) 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 TCATCTAGACGATGCTGCAGG 0.572000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 54 175 0 0 0.003610 0 0 USP16 10600 broad.mit.edu 37 21 30403014 30403014 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr21:30403014G>T ENST00000334352.4 + 4 391 c.160G>T c.(160-162)Gac>Tac p.D54Y USP16_ENST00000535828.1_Intron|USP16_ENST00000399975.3_Missense_Mutation_p.D54Y|USP16_ENST00000399976.2_Missense_Mutation_p.D54Y NM_001032410.1 NP_001027582.1 Q9Y5T5 UBP16_HUMAN ubiquitin specific peptidase 16 54 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.D54Y(1) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2) 34 CTGTAAGACTGACAATAAAGT 0.373000 11 66 0.00136819 0.00171024 0.001368 1 0 FGB 2244 broad.mit.edu 37 4 155490895 155490895 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:155490895C>A ENST00000302068.4 + 7 1251 c.1188C>A c.(1186-1188)acC>acA p.T396T FGB_ENST00000509493.1_Silent_p.T177T|FGB_ENST00000502545.1_Intron NM_005141.4 NP_005132.2 P02675 FIBB_HUMAN fibrinogen beta chain 396 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding p.T396T(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) AAAACAGGACCATGACCATTC 0.458000 25 91 4.7796e-09 7.88713e-09 0.004656 1 0 PTPRB 5787 broad.mit.edu 37 12 70948941 70948941 + Missense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:70948941A>T ENST00000451516.2 - 17 4217 c.4218T>A c.(4216-4218)gaT>gaA p.D1406E PTPRB_ENST00000550358.1_Splice_Site_p.D1626_splice|PTPRB_ENST00000538708.1_Splice_Site_p.D1406_splice|PTPRB_ENST00000550857.1_Splice_Site_p.D1406_splice|PTPRB_ENST00000261266.5_Splice_Site_p.D1496_splice|PTPRB_ENST00000334414.6_Splice_Site_p.D1714_splice NM_001206971.1 NP_001193900.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1496 Fibronectin type-III 16. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.D1496E(2)|p.D1714E(1) breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) ATAACTTACCATCAGCCTCTC 0.423000 4 77 0 0 0.000248 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 3 100 0 0 0.000248 0 0 CACNA1C 775 broad.mit.edu 37 12 2714893 2714893 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:2714893G>T ENST00000399655.1 + 24 3362 c.3097G>T c.(3097-3099)Gtg>Ttg p.V1033L CACNA1C_ENST00000399606.1_Missense_Mutation_p.V1053L|CACNA1C_ENST00000399595.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399637.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399649.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399634.1_Missense_Mutation_p.V1033L|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399644.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399629.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000327702.7_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399641.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399603.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000402845.3_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399597.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399621.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399601.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000347598.4_Missense_Mutation_p.V1053L|CACNA1C_ENST00000399591.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000344100.3_Missense_Mutation_p.V1033L|CACNA1C_ENST00000480911.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399617.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000335762.5_Missense_Mutation_p.V1058L|CACNA1C_ENST00000406454.3_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399638.1_Missense_Mutation_p.V1033L NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1053 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity p.V1033L(2)|p.V1083L(1)|p.V1053L(1)|p.V568L(1) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CGGGAACATCGTGATTGTCAC 0.587000 9 52 6.40141e-05 8.58098e-05 0.000978 1 0 RTEL1 51750 broad.mit.edu 37 20 62292695 62292695 + Silent SNP G G C rs114124243 by1000genomes TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:62292695G>C ENST00000318100.4 + 3 974 c.147G>C c.(145-147)acG>acC p.T49T RTEL1_ENST00000370018.3_Silent_p.T49T|RTEL1_ENST00000360203.5_Silent_p.T49T|RTEL1_ENST00000508582.2_Silent_p.T49T|RTEL1_ENST00000488316.1_3'UTR|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.T49T Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 49 Helicase ATP-binding. DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding p.T49T(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CAGGGAAGACGCTGTGCCTGC 0.627000 13 52 0 0 0.003163 0 0 SPATA6L 55064 broad.mit.edu 37 9 4625390 4625390 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr9:4625390C>A ENST00000454239.2 - 7 851 c.606G>T c.(604-606)caG>caT p.Q202H SPATA6L_ENST00000381895.5_Missense_Mutation_p.Q79H|SPATA6L_ENST00000381890.5_Missense_Mutation_p.Q216H|SPATA6L_ENST00000475086.1_Missense_Mutation_p.Q144H B4DIY4 B4DIY4_HUMAN spermatogenesis associated 6-like 144 p.Q202H(1) CAAGGTTCAACTGAGCTGGCT 0.428000 20 68 1.96292e-10 3.46806e-10 0.001523 1 0 MTHFD2P1 100287639 broad.mit.edu 37 3 95374287 95374287 + RNA SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:95374287G>T ENST00000494840.1 - 0 1574 NR_077228.1 TTCTTCCCTAGGGTTGGAATG 0.453000 16 50 1.99824e-07 3.12224e-07 0.004990 1 0 ANKRD34A 284615 broad.mit.edu 37 1 145473875 145473875 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:145473875T>A ENST00000323397.4 + 4 1840 c.547T>A c.(547-549)Tcg>Acg p.S183T NM_001039888.2 NP_001034977.1 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34A 183 p.S183T(1) endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 20 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GTTCTGCACGTCGCCTTCGGA 0.612000 21 99 0 0 0.001882 0 0 CD300LB 124599 broad.mit.edu 37 17 72527477 72527477 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:72527477G>T ENST00000392621.1 - 1 128 c.124C>A c.(124-126)Cct>Act p.P42T CD300LB_ENST00000314401.3_Missense_Mutation_p.P42T NM_174892.2 NP_777552.2 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 5 Ig-like V-type. integral to membrane|plasma membrane receptor activity p.P42T(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1) 21 AGCAGAGCAGGGGGCAGCCAC 0.627000 13 47 9.04627e-18 1.95807e-17 0.001855 1 0 FUZ 80199 broad.mit.edu 37 19 50314895 50314895 + Missense_Mutation SNP T T G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:50314895T>G ENST00000313777.4 - 4 543 c.380A>C c.(379-381)gAc>gCc p.D127A FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000533418.1_Missense_Mutation_p.D77A|FUZ_ENST00000526575.1_3'UTR|FUZ_ENST00000528094.1_Missense_Mutation_p.D91A|FUZ_ENST00000445575.2_Missense_Mutation_p.D127A NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 127 cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton p.D127A(1) endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) CACCCTCAAGTCCTTCTTCAG 0.547000 13 495 0 0 0.004007 0 0 COL3A1 1281 broad.mit.edu 37 2 189873907 189873907 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:189873907C>G ENST00000304636.3 + 48 3953 c.3783C>G c.(3781-3783)aaC>aaG p.N1261K COL3A1_ENST00000317840.5_Missense_Mutation_p.N958K NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1261 Fibrillar collagen NC1. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding p.N1261K(1) NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CCGCTAGAAACTGCAGAGACC 0.403000 4 136 0 0 0.000248 0 0 KIAA2026 158358 broad.mit.edu 37 9 5920027 5920027 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr9:5920027G>C ENST00000399933.3 - 8 5968 c.5969C>G c.(5968-5970)gCt>gGt p.A1990G KIAA2026_ENST00000381461.2_Missense_Mutation_p.A1960G NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 1990 p.A1165G(1)|p.A1990G(1) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) AGGAACCTTAGCAGTTGTGTT 0.398000 35 193 0 0 0.004878 0 0 ATG16L1 55054 broad.mit.edu 37 2 234200895 234200895 + Nonsense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:234200895C>T ENST00000392017.4 + 15 1809 c.1552C>T c.(1552-1554)Cga>Tga p.R518* ATG16L1_ENST00000373525.5_Nonsense_Mutation_p.R339*|ATG16L1_ENST00000392020.4_Nonsense_Mutation_p.R499*|ATG16L1_ENST00000392018.1_Nonsense_Mutation_p.R535*|ATG16L1_ENST00000347464.5_Nonsense_Mutation_p.R355* NM_001190266.1|NM_001190267.1|NM_030803.6 NP_001177195.1|NP_001177196.1|NP_110430.5 Q676U5 A16L1_HUMAN autophagy related 16-like 1 (S. cerevisiae) 518 autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding p.R518*(1)|p.R177*(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1) 25 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) TATTGATCTCCGAACAAATGC 0.502000 16 56 0 0 0.003163 0 0 BCOR 54880 broad.mit.edu 37 X 39933626 39933626 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:39933626G>T ENST00000342274.4 - 4 1335 c.973C>A c.(973-975)Ctg>Atg p.L325M BCOR_ENST00000397354.3_Missense_Mutation_p.L325M|BCOR_ENST00000378444.4_Missense_Mutation_p.L325M|BCOR_ENST00000378455.4_Missense_Mutation_p.L325M NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 325 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding p.L325M(1) breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 TCCCCCGGCAGGCCACTGGTG 0.647000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 5 37 0.00116845 0.0014679 0.001168 1 0 ABCC6P1 653190 broad.mit.edu 37 16 18602624 18602624 + RNA SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:18602624G>A ENST00000546162.2 + 0 1198 NR_003569.1 TCCCCAAGCTGCTCAGGTGAG 0.587000 13 85 0 0 0.007413 0 0 DNAH5 1767 broad.mit.edu 37 5 13864666 13864666 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:13864666C>A ENST00000265104.4 - 28 4540 c.4436G>T c.(4435-4437)tGt>tTt p.C1479F CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1479 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.C1479F(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CAGCGGGCAACACTCGCTGAA 0.527000 Kartagener syndrome 28 60 1.77063e-15 3.56982e-15 0.005443 1 0 PLCB4 5332 broad.mit.edu 37 20 9438112 9438112 + Silent SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:9438112G>C ENST00000378501.2 + 30 3027 c.3012G>C c.(3010-3012)acG>acC p.T1004T PLCB4_ENST00000334005.3_Silent_p.T1004T|PLCB4_ENST00000378473.3_Silent_p.T1016T|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Silent_p.T1004T|PLCB4_ENST00000414679.2_Silent_p.T1016T|PLCB4_ENST00000378493.1_Silent_p.T1004T NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 1004 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.T1004T(1) NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 AAATTCAGACGCTGACATCAG 0.348000 15 73 0 0 0.006122 0 0 USP7 7874 broad.mit.edu 37 16 8995984 8995984 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:8995984C>A ENST00000344836.4 - 18 2200 c.2002G>T c.(2002-2004)Gag>Tag p.E668* USP7_ENST00000535863.1_Nonsense_Mutation_p.E569*|USP7_ENST00000381886.4_Nonsense_Mutation_p.E652* NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 668 Interaction with ICP0/VMW110. interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.E668*(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 GCAGCCAGCTCGGGATCAACT 0.463000 8 84 0.000442599 0.00057036 0.006214 1 0 ZNF555 148254 broad.mit.edu 37 19 2852695 2852695 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:2852695G>T ENST00000334241.4 + 4 770 c.632G>T c.(631-633)cGt>cTt p.R211L ZNF555_ENST00000591539.1_Missense_Mutation_p.R210L|AC006130.3_ENST00000589365.1_RNA NM_001172775.1|NM_152791.4 NP_001166246.1|NP_690004.4 Q8NEP9 ZN555_HUMAN zinc finger protein 555 211 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R211L(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4) 23 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCTTTCCTCGTACTTCCTCC 0.448000 24 75 2.27525e-19 5.12445e-19 0.003954 1 0 ARMC3 219681 broad.mit.edu 37 10 23287230 23287230 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr10:23287230C>A ENST00000298032.5 + 11 1413 c.1329C>A c.(1327-1329)gcC>gcA p.A443A ARMC3_ENST00000376528.4_Silent_p.A180A|ARMC3_ENST00000409983.3_Silent_p.A443A|ARMC3_ENST00000409049.3_Silent_p.A443A NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 443 binding p.A443A(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TCATGCATGCCATCATCAGCC 0.542000 5 16 0.000602214 0.000768131 0.000602 1 0 LONRF3 79836 broad.mit.edu 37 X 118108865 118108865 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:118108865T>C ENST00000365713.2 + 1 285 c.122T>C c.(121-123)gTg>gCg p.V41A LONRF3_ENST00000304778.7_Missense_Mutation_p.V41A|LONRF3_ENST00000371628.3_Missense_Mutation_p.V41A Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 3 41 proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding p.V41A(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 36 CACCCAAAGGTGGCTGCAGAG 0.662000 3 10 0 0 0.004672 0 0 ALDH8A1 64577 broad.mit.edu 37 6 135239767 135239767 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:135239767T>C ENST00000265605.2 - 7 1318 c.1250A>G c.(1249-1251)tAt>tGt p.Y417C ALDH8A1_ENST00000367847.2_Missense_Mutation_p.Y367C|ALDH8A1_ENST00000367845.2_Missense_Mutation_p.Y363C NM_022568.3 NP_072090.1 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8 family, member A1 417 retinal metabolic process cytoplasm retinal dehydrogenase activity p.Y417C(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 36 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) CGCCAGCCCATACTTAACGTT 0.552000 13 70 0 0 0.001368 0 0 SERPINB13 5275 broad.mit.edu 37 18 61259614 61259614 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr18:61259614C>A ENST00000344731.5 + 4 360 c.258C>A c.(256-258)ttC>ttA p.F86L SERPINB13_ENST00000269489.5_Missense_Mutation_p.F86L NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 86 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity p.F86L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 ATCAACAATTCCAAAAGTTTT 0.353000 12 62 0.000151284 0.000199584 0.001855 1 0 ZFP36 7538 broad.mit.edu 37 19 39898874 39898874 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:39898874G>A ENST00000597629.1 + 2 608 c.534G>A c.(532-534)ctG>ctA p.L178L ZFP36_ENST00000248673.3_Silent_p.L172L P26651 TTP_HUMAN ZFP36 ring finger protein 172 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding p.L172L(1) large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GCGAAGACCTGGCGGCCCCGG 0.662000 27 122 0 0 0.004656 0 0 IPO7 10527 broad.mit.edu 37 11 9438673 9438673 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:9438673T>C ENST00000379719.3 + 6 846 c.704T>C c.(703-705)gTt>gCt p.V235A NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 235 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity p.V235A(1) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) TTAAAGACTGTTGTGAACAGG 0.294000 18 87 0 0 0.001523 0 0 INMT-FAM188B 100526825 broad.mit.edu 37 7 30793517 30793517 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:30793517C>A ENST00000458257.1 + 2 336 c.322C>A c.(322-324)Cca>Aca p.P108T INMT_ENST00000013222.5_Missense_Mutation_p.P109T|INMT_ENST00000409539.1_Missense_Mutation_p.P108T|INMT_ENST00000484180.1_3'UTR p.P109T(1) TGACTGGACCCCAGCGGTGAA 0.572000 37 130 1.06647e-15 2.17647e-15 0.003755 1 0 LRRC32 2615 broad.mit.edu 37 11 76372209 76372209 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:76372209C>A ENST00000407242.2 - 3 670 c.428G>T c.(427-429)cGg>cTg p.R143L AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.R143L|LRRC32_ENST00000260061.5_Missense_Mutation_p.R143L NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 143 integral to plasma membrane p.R143L(1) endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 CCCCAGCAGCCGCTCCAGCAG 0.687000 14 55 0.000219431 0.000287214 0.002450 1 0 IP6K3 117283 broad.mit.edu 37 6 33690860 33690860 + Silent SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:33690860A>G ENST00000451316.1 - 7 1405 c.870T>C c.(868-870)aaT>aaC p.N290N IP6K3_ENST00000293756.4_Silent_p.N290N NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 290 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity p.N290N(1) skin(1) 1 GGTGGCTTCCATTATGTAGGA 0.502000 22 54 0 0 0.002299 0 0 TBP 6908 broad.mit.edu 37 6 170871076 170871076 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:170871076G>A ENST00000392092.2 + 3 531 c.252G>A c.(250-252)caG>caA p.Q84Q TBP_ENST00000540980.1_Silent_p.Q64Q|TBP_ENST00000230354.6_Silent_p.Q84Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 84 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q84Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.602000 5 38 0 0 0.000602 0 0 COL3A1 1281 broad.mit.edu 37 2 189859522 189859522 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:189859522G>T ENST00000304636.3 + 20 1590 c.1420G>T c.(1420-1422)Ggt>Tgt p.G474C COL3A1_ENST00000317840.5_Missense_Mutation_p.G474C NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 474 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding p.G474C(1) NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TGGAGAACCTGGTGCAAATGG 0.448000 12 93 7.93312e-07 1.16664e-06 0.002450 1 0 MFF 56947 broad.mit.edu 37 2 228205013 228205013 + Silent SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:228205013A>T ENST00000353339.3 + 6 876 c.435A>T c.(433-435)cgA>cgT p.R145R MFF_ENST00000392059.1_Silent_p.R145R|MFF_ENST00000304593.9_Silent_p.R119R|MFF_ENST00000337110.7_Silent_p.R119R|MFF_ENST00000409565.1_Silent_p.R119R|MFF_ENST00000409616.1_Silent_p.R119R|MFF_ENST00000349901.7_Silent_p.R119R|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000524634.1_5'UTR|MFF_ENST00000354503.6_Silent_p.R119R NM_001277061.1 NP_001263990.1 Q9GZY8 MFF_HUMAN mitochondrial fission factor 145 integral to membrane|mitochondrial outer membrane p.R145R(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2) 21 AACAGATCCGAGCAGTTGGCA 0.428000 14 55 0 0 0.002450 0 0 LRFN5 145581 broad.mit.edu 37 14 42355863 42355863 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:42355863G>A ENST00000554171.1 + 5 2467 c.35G>A c.(34-36)gGc>gAc p.G12D LRFN5_ENST00000298119.4_Missense_Mutation_p.G12D|LRFN5_ENST00000554120.1_Missense_Mutation_p.G12D Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 12 integral to membrane p.G12D(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TTTCTCATTGGCATAGCAGTG 0.373000 HNSCC(30;0.082) 11 52 0 0 0.000978 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209142361 209142361 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:209142361G>T ENST00000264380.4 + 5 700 c.542G>T c.(541-543)cGa>cTa p.R181L PIKFYVE_ENST00000392202.3_Intron|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.R181L|PIKFYVE_ENST00000308862.6_Intron NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 181 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding p.R181L(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 CACCATTGCCGACTATGTGGG 0.403000 34 121 2.42023e-17 5.17144e-17 0.003271 1 0 SAMSN1 64092 broad.mit.edu 37 21 15872992 15872992 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr21:15872992T>C ENST00000285670.2 - 7 1004 c.830A>G c.(829-831)aAt>aGt p.N277S SAMSN1_ENST00000400566.1_Missense_Mutation_p.N209S|SAMSN1_ENST00000400564.1_Missense_Mutation_p.N41S NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 209 SAM. negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding p.N209S(1)|p.N277S(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) TCCCACTTTATTGTTCAACAT 0.383000 23 130 0 0 0.002299 0 0 DVL3 1857 broad.mit.edu 37 3 183885372 183885372 + Silent SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:183885372A>T ENST00000313143.3 + 12 1451 c.1203A>T c.(1201-1203)ctA>ctT p.L401L DVL3_ENST00000431765.1_Silent_p.L384L|EIF2B5_ENST00000444495.1_Intron NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 401 canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity p.L401L(1) breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) CCCCAGGCCTAGACGACTTCC 0.527000 7 32 0 0 0.003080 0 0 FAM46D 169966 broad.mit.edu 37 X 79699123 79699123 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:79699123C>A ENST00000538312.1 + 5 1419 c.1085C>A c.(1084-1086)cCt>cAt p.P362H FAM46D_ENST00000308293.5_Missense_Mutation_p.P362H NM_001170574.1 NP_001164045.1 Q8NEK8 FA46D_HUMAN family with sequence similarity 46, member D 362 p.P362H(1) kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 GCAAGGTACCCTATTTATGTA 0.428000 8 49 0.00448238 0.00549311 0.004482 1 0 BCRP7 100133163 broad.mit.edu 37 22 18846140 18846140 + RNA SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr22:18846140T>C ENST00000412938.1 + 0 3498 TAGGGCACCTTGGACCTCTCT 0.617000 3 26 0 0 0.006214 0 0 IGSF22 283284 broad.mit.edu 37 11 18745745 18745745 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:18745745G>T ENST00000513874.1 - 2 178 c.39C>A c.(37-39)caC>caA p.H13Q RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 13 p.H13Q(2) NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 CCATGGACACGTGCTCCTGCA 0.597000 27 120 1.17739e-12 2.24693e-12 0.005443 1 0 ATP2B1 490 broad.mit.edu 37 12 90028574 90028574 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:90028574C>A ENST00000428670.3 - 5 1224 c.768G>T c.(766-768)aaG>aaT p.K256N ATP2B1_ENST00000348959.3_Missense_Mutation_p.K256N|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K256N|ATP2B1_ENST00000261173.2_Missense_Mutation_p.K256N P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 256 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding p.K256N(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 GTAAGGGATCCTTATCTAAAG 0.348000 8 38 7.48243e-07 1.11015e-06 0.006214 1 0 SLC17A4 10050 broad.mit.edu 37 6 25773866 25773866 + Silent SNP G G C rs146741384 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:25773866G>C ENST00000377905.4 + 8 1070 c.951G>C c.(949-951)acG>acC p.T317T SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Silent_p.T87T NM_005495.2 NP_005486.1 Q9Y2C5 S17A4_HUMAN solute carrier family 17, member 4 317 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity p.T317T(1) breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 ACACACCAACGTACATCAGCT 0.388000 46 64 0 0 0.003610 0 0 SYNE2 23224 broad.mit.edu 37 14 64516346 64516346 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:64516346G>C ENST00000358025.3 + 47 7625 c.7395G>C c.(7393-7395)ttG>ttC p.L2465F SYNE2_ENST00000554584.1_Missense_Mutation_p.L2498F|SYNE2_ENST00000344113.4_Missense_Mutation_p.L2465F|SYNE2_ENST00000357395.3_5'UTR NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2465 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding p.L2465F(1) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ATACCCAGTTGGAAGCAAAGA 0.358000 7 43 0 0 0.001984 0 0 DENND5B 160518 broad.mit.edu 37 12 31633191 31633191 + Splice_Site SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:31633191T>A ENST00000389082.5 - 3 502 c.e3-2 DENND5B_ENST00000545147.1_Intron|DENND5B_ENST00000354285.4_Splice_Site|DENND5B_ENST00000536562.1_Splice_Site|DENND5B_ENST00000306833.6_Splice_Site NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B integral to membrane p.?(1) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CATGCACAACTGTGAAAGAAA 0.363000 3 5 0 0 0.004672 0 0 SCG2 7857 broad.mit.edu 37 2 224462975 224462975 + Silent SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:224462975A>T ENST00000305409.2 - 2 1258 c.1026T>A c.(1024-1026)ccT>ccA p.P342P NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 342 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity p.P342P(1) NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) GAGAATCAAGAGGTTTCTCAA 0.418000 19 152 0 0 0.007413 0 0 USP26 83844 broad.mit.edu 37 X 132160953 132160953 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:132160953G>T ENST00000511190.1 - 6 1765 c.1296C>A c.(1294-1296)tgC>tgA p.C432* USP26_ENST00000370832.1_Nonsense_Mutation_p.C432*|USP26_ENST00000406273.1_Nonsense_Mutation_p.C432* NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 432 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.C432*(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) TAATGACAGGGCAAGAAAACC 0.378000 22 109 1.9806e-07 3.10439e-07 0.002299 1 0 ABCC6P1 653190 broad.mit.edu 37 16 18602625 18602625 + RNA SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:18602625C>T ENST00000546162.2 + 0 1199 NR_003569.1 CCCCAAGCTGCTCAGGTGAGT 0.582000 13 83 0 0 0.006122 0 0 GALNT15 117248 broad.mit.edu 37 3 16268973 16268973 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:16268973G>A ENST00000339732.5 + 10 2389 c.1886G>A c.(1885-1887)cGt>cAt p.R629H GALNT15_ENST00000437509.1_Intron NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 p.R629H(2) CAGCAGTGGCGTTTTGACCAG 0.443000 9 77 0 0 0.001368 0 0 SYT4 6860 broad.mit.edu 37 18 40853633 40853633 + Missense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr18:40853633A>T ENST00000255224.3 - 2 1129 c.761T>A c.(760-762)aTt>aAt p.I254N SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.I236N NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 254 C2 1.|Phospholipid binding (Probable). cell junction|integral to membrane|synaptic vesicle membrane transporter activity p.I254N(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 AACTTCCCCAATGATATCATC 0.353000 8 53 0 0 0.003080 0 0 BBS2 583 broad.mit.edu 37 16 56519510 56519510 + Missense_Mutation SNP C C T rs138913160 byFrequency TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:56519510C>T ENST00000245157.5 - 16 2471 c.2051G>A c.(2050-2052)cGt>cAt p.R684H BBS2_ENST00000568104.1_Missense_Mutation_p.R638H NM_031885.3 NP_114091.3 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 684 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding p.R684H(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3) 26 ACCCCGCAGACGACCTGCTCT 0.388000 Bardet-Biedl syndrome 5 184 0 0 0.000602 0 0 HIPK2 28996 broad.mit.edu 37 7 139416353 139416353 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:139416353C>A ENST00000406875.3 - 2 575 c.481G>T c.(481-483)Gcc>Tcc p.A161S HIPK2_ENST00000428878.2_Missense_Mutation_p.A161S|HIPK2_ENST00000342645.6_Missense_Mutation_p.A161S NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 161 Transcriptional corepression (By similarity). apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding p.A161S(2) breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) GCGACAGTGGCCCCGCTTGCA 0.557000 26 113 5.61819e-17 1.19536e-16 0.005443 1 0 ZSCAN5B 342933 broad.mit.edu 37 19 56704299 56704299 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:56704299C>A ENST00000586855.2 - 2 436 c.123G>T c.(121-123)gaG>gaT p.E41D ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.E41D A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 41 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E41D(2) breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TGTGCCAAGTCTCAGGGTTCC 0.577000 9 16 3.09899e-07 4.76767e-07 0.004482 1 0 HNRNPUL2 221092 broad.mit.edu 37 11 62490080 62490080 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:62490080C>A ENST00000301785.5 - 6 1280 c.1088G>T c.(1087-1089)tGc>tTc p.C363F RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.C363F NM_001079559.2 NP_001073027.1 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 2 363 B30.2/SPRY. cell killing nucleus ATP binding|nucleic acid binding p.C363F(1) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TACAGCAAAGCAGCCAATAAC 0.453000 8 64 5.4927e-09 9.03405e-09 0.004482 1 0 SKIL 6498 broad.mit.edu 37 3 170078605 170078605 + Missense_Mutation SNP A A C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:170078605A>C ENST00000458537.3 + 1 1195 c.486A>C c.(484-486)gaA>gaC p.E162D SKIL_ENST00000259119.4_Missense_Mutation_p.E162D|SKIL_ENST00000426052.2_Missense_Mutation_p.E142D|SKIL_ENST00000413427.2_Missense_Mutation_p.E162D NM_001145097.2|NM_001248008.1|NM_005414.4 NP_001138569.1|NP_001234937.1|NP_005405.2 P12757 SKIL_HUMAN SKI-like oncogene 162 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity p.E162D(1) cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TTGGAGGAGAAAAGAGACTCT 0.408000 3 134 0 0 0.000248 0 0 FGD1 2245 broad.mit.edu 37 X 54497808 54497808 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:54497808C>A ENST00000375135.3 - 2 1153 c.420G>T c.(418-420)ccG>ccT p.P140P NM_004463.2 NP_004454.2 P98174 FGD1_HUMAN FYVE, RhoGEF and PH domain containing 1 140 Pro-rich. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding p.P140P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GGGTTTCAGTCGGGGGACCTG 0.607000 32 79 8.88839e-20 2.01095e-19 0.002096 1 0 TRIM69 140691 broad.mit.edu 37 15 45059693 45059693 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr15:45059693C>T ENST00000558173.1 + 5 5359 c.614C>T c.(613-615)cCt>cTt p.P205L TRIM69_ENST00000559390.1_Missense_Mutation_p.P409L|TRIM69_ENST00000338264.4_Missense_Mutation_p.P250L|TRIM69_ENST00000558329.1_Missense_Mutation_p.P188L|TRIM69_ENST00000561043.1_Missense_Mutation_p.P172L|TRIM69_ENST00000329464.4_Missense_Mutation_p.P409L|TRIM69_ENST00000560442.1_Missense_Mutation_p.P205L Q86WT6 TRI69_HUMAN tripartite motif containing 69 409 apoptosis nuclear speck zinc ion binding p.P409L(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1) 20 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) CCTCTAACTCCTGAGCAAGGA 0.448000 5 84 0 0 0.000602 0 0 WNT5A 7474 broad.mit.edu 37 3 55504432 55504432 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:55504432C>A ENST00000474267.1 - 6 1352 c.831G>T c.(829-831)cgG>cgT p.R277R WNT5A_ENST00000264634.4_Silent_p.R277R|WNT5A_ENST00000497027.1_Silent_p.R262R P41221 WNT5A_HUMAN wingless-type MMTV integration site family, member 5A 277 activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.R370L(1) breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204) GGCTGTTGAGCCGCATGGCCG 0.617000 3 18 0.00024832 0.000321658 0.000248 1 0 MAGEB18 286514 broad.mit.edu 37 X 26157298 26157298 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:26157298G>T ENST00000325250.1 + 2 383 c.196G>T c.(196-198)Gga>Tga p.G66* NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 66 protein binding p.G66*(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 AGCGCTTCAGGGAGCCCCATC 0.532000 12 46 1.61879e-10 2.8907e-10 0.001368 1 0 PTPRN2 5799 broad.mit.edu 37 7 157959945 157959945 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:157959945C>A ENST00000389413.3 - 6 691 c.588G>T c.(586-588)gtG>gtT p.V196V PTPRN2_ENST00000404321.2_Silent_p.V219V|PTPRN2_ENST00000409483.1_Silent_p.V158V|PTPRN2_ENST00000389416.4_Silent_p.V179V|PTPRN2_ENST00000389418.4_Silent_p.V196V NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 196 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.V196V(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) ACGTGTGGGCCACATAGGTCA 0.627000 10 78 0.000442599 0.00057036 0.006214 1 0 MAGEA8 4107 broad.mit.edu 37 X 149013289 149013289 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:149013289C>G ENST00000535454.1 + 4 792 c.243C>G c.(241-243)agC>agG p.S81R MAGEA8_ENST00000286482.1_Missense_Mutation_p.S81R|MAGEA8_ENST00000542674.1_Missense_Mutation_p.S81R|MAGEA8_ENST00000493910.1_3'UTR NM_001166400.1 NP_001159872.1 P43361 MAGA8_HUMAN melanoma antigen family A, 8 81 p.S81R(1) NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;6.56e-05) CTCTGTGGAGCCAATCCGATG 0.597000 20 91 0 0 0.007413 0 0 MCM8 84515 broad.mit.edu 37 20 5958578 5958578 + Silent SNP C C T rs113442872 byFrequency TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:5958578C>T ENST00000378896.3 + 13 1829 c.1452C>T c.(1450-1452)acC>acT p.T484T MCM8_ENST00000378883.1_Silent_p.T437T|MCM8_ENST00000265187.4_Silent_p.T468T|MCM8_ENST00000378886.2_Silent_p.T524T NM_032485.4|NM_182802.1 NP_115874.3|NP_877954.1 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 484 MCM.|Thr-rich. cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity p.T484T(1)|p.T468T(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 CCACGACCACCTCTGGTCTGA 0.473000 15 59 0 0 0.003163 0 0 OR2B2 81697 broad.mit.edu 37 6 27879562 27879562 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:27879562C>G ENST00000303324.2 - 1 612 c.536G>C c.(535-537)tGt>tCt p.C179S NM_033057.2 NP_149046.2 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, member 2 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C179S(1) cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 AGGGACTTCACAGAAGAAGTG 0.453000 25 128 0 0 0.006320 0 0 TNIK 23043 broad.mit.edu 37 3 170858245 170858245 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:170858245C>A ENST00000436636.2 - 13 1619 c.1275G>T c.(1273-1275)cgG>cgT p.R425R TNIK_ENST00000357327.5_Silent_p.R425R|TNIK_ENST00000475336.1_Silent_p.R425R|TNIK_ENST00000470834.1_Silent_p.R425R|TNIK_ENST00000538048.1_Silent_p.R425R|TNIK_ENST00000460047.1_Silent_p.R425R|TNIK_ENST00000369326.5_Silent_p.R425R|TNIK_ENST00000284483.8_Silent_p.R425R|TNIK_ENST00000488470.1_Silent_p.R425R|TNIK_ENST00000341852.6_Silent_p.R425R NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 425 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity p.R425R(2) cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) CCTCATAGTGCCGGCGCTGCT 0.652000 40 181 5.44703e-19 1.21045e-18 0.002222 1 0 HTR2A 3356 broad.mit.edu 37 13 47466725 47466725 + Splice_Site SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr13:47466725C>A ENST00000378688.4 - 2 544 c.412_splice c.e2-1 p.G138_splice HTR2A_ENST00000543956.1_Splice_Site_p.W54_splice|HTR2A_ENST00000542664.1_Splice_Site_p.G138_splice P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 138 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity p.G138V(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CCACCGGTACCCTATGAGGCA 0.567000 16 58 6.94344e-10 1.19715e-09 0.006122 1 0 TSHZ2 128553 broad.mit.edu 37 20 51871779 51871779 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:51871779G>A ENST00000371497.5 + 2 2669 c.1782G>A c.(1780-1782)ctG>ctA p.L594L TSHZ2_ENST00000329613.6_Silent_p.L591L|TSHZ2_ENST00000603338.2_Silent_p.L591L NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 594 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A595S(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CCACACACCTGGCCCCTTACA 0.517000 29 150 0 0 0.001512 0 0 LRRC66 339977 broad.mit.edu 37 4 52860731 52860731 + Silent SNP C C A rs137931708 by1000genomes TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:52860731C>A ENST00000343457.3 - 4 2463 c.2457G>T c.(2455-2457)ccG>ccT p.P819P NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 819 integral to membrane p.P819P(1) central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 TGAACATGCCCGGAAACTCAT 0.468000 13 71 1.61879e-10 2.8907e-10 0.001368 1 0 MUC16 94025 broad.mit.edu 37 19 9074617 9074617 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:9074617T>A ENST00000397910.4 - 3 13032 c.12829A>T c.(12829-12831)Acc>Tcc p.T4277S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4279 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.T4277S(2) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGTGGGAGGTAACCAATGGA 0.493000 17 66 0 0 0.004990 0 0 PAOX 196743 broad.mit.edu 37 10 135203244 135203244 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr10:135203244G>T ENST00000278060.5 + 6 1468 c.1385G>T c.(1384-1386)gGc>gTc p.G462V PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000357296.3_Intron NM_152911.2 NP_690875.1 Q6QHF9 PAOX_HUMAN polyamine oxidase (exo-N4-amino) 600 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity p.G462V(1) cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2) 23 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) GACGGCGCCGGCGCCCAGGTA 0.736000 4 30 0.000602214 0.000768131 0.000602 1 0 OR4A47 403253 broad.mit.edu 37 11 48510785 48510785 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:48510785G>T ENST00000446524.1 + 1 517 c.441G>T c.(439-441)tgG>tgT p.W147C NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W147F(1) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TAGTGTCCTGGGTTGGAGGAT 0.443000 21 101 1.01871e-10 1.84549e-10 0.001216 1 0 CCDC40 55036 broad.mit.edu 37 17 78023992 78023992 + Missense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:78023992A>T ENST00000397545.4 + 7 1096 c.1069A>T c.(1069-1071)Agc>Tgc p.S357C CCDC40_ENST00000374877.3_Missense_Mutation_p.S357C|CCDC40_ENST00000374876.4_Missense_Mutation_p.S357C|CCDC40_ENST00000269318.5_Missense_Mutation_p.S357C NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 357 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm p.S357C(2) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AATGGCCTCGAGCGAGCGCAG 0.632000 8 22 0 0 0.003080 0 0 HKDC1 80201 broad.mit.edu 37 10 71010090 71010090 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr10:71010090C>T ENST00000354624.5 + 11 1748 c.1615C>T c.(1615-1617)Cgg>Tgg p.R539W HKDC1_ENST00000395086.2_Missense_Mutation_p.R539W NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 539 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity p.R539W(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 AACCAACTTCCGGGTCCTCCT 0.542000 22 208 0 0 0.001882 0 0 HSPB7 27129 broad.mit.edu 37 1 16342123 16342123 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:16342123C>A ENST00000311890.9 - 3 1291 c.465G>T c.(463-465)ccG>ccT p.P155P HSPB7_ENST00000375718.4_Silent_p.P230P|HSPB7_ENST00000487046.1_Silent_p.P160P|HSPB7_ENST00000411503.1_Silent_p.P150P|HSPB7_ENST00000406363.2_Silent_p.P159P NM_014424.4 NP_055239.1 Q9UBY9 HSPB7_HUMAN heat shock 27kDa protein family, member 7 (cardiovascular) 155 regulation of heart contraction|response to heat|response to unfolded protein Cajal body protein C-terminus binding p.P155P(1) breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) GTTCTGTATGCGGGTGACGCC 0.652000 19 32 8.34094e-07 1.21944e-06 0.001216 1 0 KIF5C 3800 broad.mit.edu 37 2 149840154 149840154 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:149840154G>T ENST00000435030.1 + 15 1958 c.1590G>T c.(1588-1590)caG>caT p.Q530H KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.Q435H|KIF5C_ENST00000397413.1_Missense_Mutation_p.Q298H O60282 KIF5C_HUMAN kinesin family member 5C 530 microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity p.Q530H(1)|p.Q433H(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) CAACCACACAGAGAGAGCTGA 0.413000 9 50 7.48243e-07 1.11015e-06 0.006214 1 0 PCOLCE2 26577 broad.mit.edu 37 3 142567310 142567310 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:142567310G>T ENST00000295992.3 - 3 503 c.197C>A c.(196-198)cCc>cAc p.P66H PCOLCE2_ENST00000485766.1_Missense_Mutation_p.P66H NM_013363.3 NP_037495.1 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 66 CUB 1. extracellular region collagen binding|heparin binding|peptidase activator activity p.P66H(1) NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 TTTTCCTTCGGGAACCTGCCA 0.413000 21 63 8.04996e-18 1.74999e-17 0.001882 1 0 HCFC1 3054 broad.mit.edu 37 X 153219071 153219071 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:153219071C>A ENST00000310441.7 - 18 5450 c.4484G>T c.(4483-4485)gGc>gTc p.G1495V HCFC1_ENST00000369984.4_Missense_Mutation_p.G1495V|HCFC1_ENST00000354233.3_Missense_Mutation_p.G1426V NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 1495 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.G1495V(1)|p.G1398V(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CACAGAGGGGCCCGGGACCGG 0.652000 13 62 0.00185496 0.00230716 0.001855 1 0 EYA2 2139 broad.mit.edu 37 20 45633640 45633640 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:45633640C>A ENST00000327619.5 + 4 589 c.215C>A c.(214-216)aCg>aAg p.T72K EYA2_ENST00000317304.6_Missense_Mutation_p.T72K|EYA2_ENST00000357410.3_Missense_Mutation_p.T72K NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 72 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity p.T72K(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) TACGGCCAGACGCAGTACAGT 0.562000 31 137 3.57733e-08 5.71458e-08 0.001786 1 0 OMG 4974 broad.mit.edu 37 17 29622582 29622582 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:29622582G>T ENST00000247271.4 - 2 1029 c.768C>A c.(766-768)acC>acA p.T256T NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron NM_002544.4 NP_002535.3 P23515 OMGP_HUMAN oligodendrocyte myelin glycoprotein 256 cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|plasma membrane p.0?(8)|p.?(3)|p.T256T(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1) 13 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121) ATGATATTTGGGTAGAACATG 0.398000 15 112 3.27435e-08 5.26423e-08 0.002450 1 0 MEOX1 4222 broad.mit.edu 37 17 41738726 41738726 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:41738726G>T ENST00000318579.4 - 1 596 c.177C>A c.(175-177)taC>taA p.Y59* MEOX1_ENST00000329168.3_Nonsense_Mutation_p.Y59*|MEOX1_ENST00000393661.2_5'UTR|MEOX1_ENST00000549132.1_Missense_Mutation_p.T30N NM_001040002.1|NM_004527.3 NP_001035091.1|NP_004518.1 P50221 MEOX1_HUMAN mesenchyme homeobox 1 59 nucleus sequence-specific DNA binding p.Y59*(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 8 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0753) AGAAGTCAGGGTACGCTGCCG 0.647000 11 72 3.86212e-05 5.23322e-05 0.000673 1 0 GPR64 10149 broad.mit.edu 37 X 19027777 19027777 + Silent SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:19027777A>T ENST00000379878.3 - 17 1582 c.1341T>A c.(1339-1341)acT>acA p.T447T GPR64_ENST00000360279.4_Silent_p.T441T|GPR64_ENST00000379869.3_Silent_p.T463T|GPR64_ENST00000357991.3_Silent_p.T460T|GPR64_ENST00000379876.1_Silent_p.T439T|GPR64_ENST00000379873.2_Silent_p.T463T|GPR64_ENST00000340581.3_Silent_p.T433T|GPR64_ENST00000357544.3_Silent_p.T433T|GPR64_ENST00000356606.4_Silent_p.T449T|GPR64_ENST00000354791.3_Silent_p.T447T NM_001184833.1 NP_001171762.1 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 463 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity p.T460T(1) breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) CCACAAAGGTAGTTGTGTTGA 0.423000 16 104 0 0 0.006122 0 0 NAV3 89795 broad.mit.edu 37 12 78444565 78444565 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:78444565C>A ENST00000397909.2 + 11 2327 c.2154C>A c.(2152-2154)gaC>gaA p.D718E NAV3_ENST00000536525.2_Missense_Mutation_p.D718E|NAV3_ENST00000266692.7_Missense_Mutation_p.D718E|NAV3_ENST00000228327.6_Missense_Mutation_p.D718E Q8IVL0 NAV3_HUMAN neuron navigator 3 718 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.D718E(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CAACATTTGACAGCACTGTGA 0.473000 HNSCC(70;0.22) 16 82 2.4624e-09 4.11772e-09 0.001216 1 0 TMTC1 83857 broad.mit.edu 37 12 29669312 29669312 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:29669312G>T ENST00000256062.5 - 15 2426 c.1953C>A c.(1951-1953)gcC>gcA p.A651A TMTC1_ENST00000551659.1_Silent_p.A821A|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000539277.1_Silent_p.A759A|TMTC1_ENST00000552618.1_Silent_p.A783A NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 759 integral to membrane binding p.A651A(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) TGCTATAGATGGCTGACAAGA 0.448000 27 119 2.44723e-14 4.81738e-14 0.004656 1 0 ZNF728 388523 broad.mit.edu 37 19 23159803 23159803 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:23159803C>A ENST00000594710.1 - 4 481 c.336G>T c.(334-336)caG>caT p.Q112H NM_001267716.1 NP_001254645.1 zinc finger protein 728 CAATTTTTAACTGTAAATTCT 0.358000 19 46 5.3912e-06 7.65796e-06 0.006122 1 0 SPATA6L 55064 broad.mit.edu 37 9 4625413 4625413 + Missense_Mutation SNP A A C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr9:4625413A>C ENST00000454239.2 - 7 828 c.583T>G c.(583-585)Ttc>Gtc p.F195V SPATA6L_ENST00000381895.5_Missense_Mutation_p.F72V|SPATA6L_ENST00000223517.5_5'UTR|SPATA6L_ENST00000381890.5_Missense_Mutation_p.F209V|SPATA6L_ENST00000475086.1_Missense_Mutation_p.F137V B4DIY4 B4DIY4_HUMAN spermatogenesis associated 6-like 137 p.F195V(1) TCCTGGAAGAAATGCCTGGTA 0.433000 19 71 0 0 0.007413 0 0 RXRG 6258 broad.mit.edu 37 1 165370562 165370562 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:165370562C>A ENST00000359842.5 - 10 1632 c.1330G>T c.(1330-1332)Ggg>Tgg p.G444W NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 444 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding p.G444W(1) endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) GGGGTGTCCCCGATGAGCTTG 0.602000 41 114 4.01765e-15 8.06758e-15 0.002222 1 0 NEFL 4747 broad.mit.edu 37 8 24811218 24811218 + RNA SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr8:24811218G>A ENST00000221169.5 - 0 1855 P07196 NFL_HUMAN neurofilament, light polypeptide anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton p.R421*(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) TAGGCAGATCGGCCAAAGACC 0.572000 13 78 0 0 0.002450 0 0 UBQLN2 29978 broad.mit.edu 37 X 56591074 56591074 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:56591074C>G ENST00000338222.5 + 1 1049 c.768C>G c.(766-768)agC>agG p.S256R NM_013444.3 NP_038472.2 Q9UHD9 UBQL2_HUMAN ubiquilin 2 256 cytoplasm|nucleus|plasma membrane binding p.S256R(1) breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1) 21 TGGCTCTTAGCAATCTAGAAA 0.483000 14 71 0 0 0.002450 0 0 NXPE3 91775 broad.mit.edu 37 3 101520396 101520396 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:101520396G>T ENST00000422132.1 + 2 608 c.411G>T c.(409-411)aaG>aaT p.K137N NXPE3_ENST00000273347.5_Missense_Mutation_p.K137N|NXPE3_ENST00000477909.1_Missense_Mutation_p.K137N|NXPE3_ENST00000491511.1_Missense_Mutation_p.K137N neurexophilin and PC-esterase domain family, member 3 p.K137N(1) GAAAGCCCAAGAAGTATGGTG 0.512000 11 65 3.86212e-05 5.23322e-05 0.000673 1 0 KIAA2026 158358 broad.mit.edu 37 9 5920648 5920648 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr9:5920648C>A ENST00000399933.3 - 8 5347 c.5348G>T c.(5347-5349)cGg>cTg p.R1783L KIAA2026_ENST00000381461.2_Missense_Mutation_p.R1753L NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 1783 p.R1783L(1)|p.R958L(1) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) GAGTGAAGTCCGAGATTGTCT 0.418000 116 487 3.35115e-56 8.13385e-56 0.003610 1 0 BRAF 673 broad.mit.edu 37 7 140453193 140453193 + Splice_Site SNP T T C rs121913370 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:140453193T>C ENST00000288602.6 - 15 1802 c.1741_splice c.e15-1 p.N581_splice NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 581 Protein kinase. N -> D (in CFC syndrome).|N -> S (in a colorectal adenocarcinoma sample; somatic mutation). 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.N581S(9)|p.N581I(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) AAGAAATATATCTGAGGTGTA 0.358000 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 8 76 0 0 0.006214 0 0 BIRC2 329 broad.mit.edu 37 11 102239138 102239138 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:102239138G>T ENST00000227758.2 + 6 2624 c.1225G>T c.(1225-1227)Gtg>Ttg p.V409L BIRC2_ENST00000530675.1_Missense_Mutation_p.V360L|BIRC2_ENST00000532672.1_Missense_Mutation_p.V388L|BIRC2_ENST00000527910.1_3'UTR NM_001166.4|NM_001256163.1 NP_001157.1|NP_001243092.1 Q13490 BIRC2_HUMAN baculoviral IAP repeat containing 2 409 cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination CD40 receptor complex|cytosol|internal side of plasma membrane protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding p.V409L(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0144) TAGAGACCTGGTGAAACAAAC 0.363000 17 103 4.14922e-12 7.77007e-12 0.004007 1 0 EVL 51466 broad.mit.edu 37 14 100604129 100604129 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:100604129C>G ENST00000544450.2 + 11 1379 c.1096C>G c.(1096-1098)Cct>Gct p.P366A EVL_ENST00000392920.3_Missense_Mutation_p.P362A|EVL_ENST00000402714.2_Missense_Mutation_p.P360A Q9UI08 EVL_HUMAN Enah/Vasp-like 360 EVH2. actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis cytoskeleton|cytosol|focal adhesion|lamellipodium actin binding|profilin binding|SH3 domain binding p.P362A(1) cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2) 14 Melanoma(154;0.152) TCAGTCGCAGCCTCACTCTAG 0.607000 16 91 0 0 0.004007 0 0 OR2M7 391196 broad.mit.edu 37 1 248487446 248487446 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:248487446C>A ENST00000317965.2 - 1 453 c.425G>T c.(424-426)gGa>gTa p.G142V NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G142V(1) breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGTCATAAGTCCACAAATTTT 0.478000 74 297 1.8615e-32 4.45335e-32 0.003610 1 0 CCL4 6351 broad.mit.edu 37 17 34432678 34432678 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:34432678G>T ENST00000250151.4 + 3 568 c.252G>T c.(250-252)gaG>gaT p.E84D CCL4_ENST00000394495.1_Missense_Mutation_p.S46I NM_002984.2 NP_002975.1 P13236 CCL4_HUMAN chemokine (C-C motif) ligand 4 84 cell adhesion|cell-cell signaling|cellular component movement|chemotaxis|establishment or maintenance of cell polarity|immune response|inflammatory response|response to virus|viral genome replication extracellular space chemokine activity|receptor signaling protein tyrosine kinase activity p.E84D(1) endometrium(1)|large_intestine(1)|lung(2) 4 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGGTCCAGGAGTACGTGTATG 0.502000 17 122 1.56452e-12 2.95193e-12 0.007413 1 0 EWSR1 2130 broad.mit.edu 37 22 29664333 29664333 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr22:29664333C>T ENST00000397938.2 + 1 327 c.8C>T c.(7-9)tCc>tTc p.S3F EWSR1_ENST00000332035.6_Missense_Mutation_p.S3F|EWSR1_ENST00000406548.1_Missense_Mutation_p.S3F|EWSR1_ENST00000333395.6_Missense_Mutation_p.S3F|EWSR1_ENST00000414183.2_Missense_Mutation_p.S3F|EWSR1_ENST00000332050.6_Missense_Mutation_p.S3F|EWSR1_ENST00000331029.7_Missense_Mutation_p.S3F NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3 NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2 Q01844 EWS_HUMAN EWS RNA-binding protein 1 3 EAD (Gln/Pro/Thr-rich). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding p.S3F(2) EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AAAATGGCGTCCACGGGTGAG 0.632000 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 5 214 0 0 0.001168 0 0 CCDC173 129881 broad.mit.edu 37 2 170502572 170502572 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:170502572C>T ENST00000447353.1 - 9 1543 c.1438G>A c.(1438-1440)Gaa>Aaa p.E480K NM_001085447.1 NP_001078916.1 coiled-coil domain containing 173 p.E474K(1) GATTCAAGTTCAATTACCTCT 0.413000 9 397 0 0 0.004482 0 0 OR51E2 81285 broad.mit.edu 37 11 4703764 4703764 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:4703764G>A ENST00000396950.3 - 2 417 c.178C>T c.(178-180)Ctc>Ttc p.L60F NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L60F(1) NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) CAGAGAAAGAGGTACATCGGA 0.507000 18 73 0 0 0.004990 0 0 AIFM1 9131 broad.mit.edu 37 X 129271088 129271088 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:129271088T>A ENST00000287295.3 - 10 1270 c.1040A>T c.(1039-1041)tAc>tTc p.Y347F AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Missense_Mutation_p.Y343F|AIFM1_ENST00000460436.2_Missense_Mutation_p.Y8F|AIFM1_ENST00000346424.2_Missense_Mutation_p.Y60F|AIFM1_ENST00000440263.1_5'UTR NM_001130847.3|NM_004208.3 NP_001124319.1|NP_004199.1 O95831 AIFM1_HUMAN apoptosis-inducing factor, mitochondrion-associated, 1 347 FAD-dependent oxidoreductase (By similarity). activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding p.Y347F(1)|p.Y343F(1) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 GTTGCTGAGGTATTCGGGGAG 0.468000 32 150 0 0 0.004878 0 0 FSCB 84075 broad.mit.edu 37 14 44975985 44975985 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:44975985G>T ENST00000340446.4 - 1 497 c.206C>A c.(205-207)aCt>aAt p.T69N NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 69 cilium p.T69N(1) breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) AGACTTACTAGTCATTTCCTG 0.423000 27 129 7.92952e-12 1.46843e-11 0.003954 1 0 APOL4 80832 broad.mit.edu 37 22 36587606 36587606 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr22:36587606G>C ENST00000332987.1 - 7 983 c.561C>G c.(559-561)atC>atG p.I187M APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000352371.1_Missense_Mutation_p.I190M|APOL4_ENST00000405511.1_3'UTR Q9BPW4 APOL4_HUMAN apolipoprotein L, 4 191 lipid metabolic process|lipid transport|lipoprotein metabolic process extracellular region lipid binding p.I190M(1) lung(1) 1 TGTTCTCCACGATGCTGGAGG 0.547000 10 23 0 0 0.006214 0 0 PTPLAD1 51495 broad.mit.edu 37 15 65847232 65847232 + Silent SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr15:65847232A>T ENST00000261875.5 + 3 304 c.138A>T c.(136-138)ggA>ggT p.G46G PTPLAD1_ENST00000442729.2_Silent_p.G46G|PTPLAD1_ENST00000566074.1_5'UTR|PTPLAD1_ENST00000562901.1_5'UTR|PTPLAD1_ENST00000566511.1_5'UTR|PTPLAD1_ENST00000568793.1_Silent_p.G21G|PTPLAD1_ENST00000565299.1_Silent_p.G84G|PTPLAD1_ENST00000569894.1_5'UTR NM_016395.2 NP_057479.2 Q9P035 HACD3_HUMAN protein tyrosine phosphatase-like A domain containing 1 46 CS. activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction endoplasmic reticulum membrane|integral to membrane GTPase activator activity|lyase activity|protein binding p.G46G(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1) 5 TAGCTCAAGGACATGGTGCCA 0.438000 27 198 0 0 0.005443 0 0 WNT5A 7474 broad.mit.edu 37 3 55504433 55504433 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:55504433C>A ENST00000474267.1 - 6 1351 c.830G>T c.(829-831)cGg>cTg p.R277L WNT5A_ENST00000264634.4_Missense_Mutation_p.R277L|WNT5A_ENST00000497027.1_Missense_Mutation_p.R262L P41221 WNT5A_HUMAN wingless-type MMTV integration site family, member 5A 277 activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.R370L(1) breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204) GCTGTTGAGCCGCATGGCCGC 0.612000 3 18 0.00024832 0.000321658 0.000248 1 0 NLGN4X 57502 broad.mit.edu 37 X 5821398 5821398 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:5821398C>A ENST00000381095.3 - 5 1948 c.1321G>T c.(1321-1323)Gtg>Ttg p.V441L NLGN4X_ENST00000275857.6_Missense_Mutation_p.V441L|NLGN4X_ENST00000381092.1_Missense_Mutation_p.V441L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.V461L|NLGN4X_ENST00000538097.1_Missense_Mutation_p.V441L NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 441 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.V441L(1) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 AAGAGAGCCACCAGGGTTTTC 0.597000 16 57 6.49762e-13 1.24954e-12 0.006122 1 0 MYO10 4651 broad.mit.edu 37 5 16701144 16701144 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:16701144G>C ENST00000513610.1 - 25 3814 c.3360C>G c.(3358-3360)gaC>gaG p.D1120E MYO10_ENST00000274203.9_Missense_Mutation_p.D477E|MYO10_ENST00000427430.2_Missense_Mutation_p.D477E|MYO10_ENST00000505695.1_Missense_Mutation_p.D459E|MYO10_ENST00000515803.1_Missense_Mutation_p.D459E NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1120 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity p.D1120E(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 AGCAGCGGTAGTCGGGGGACC 0.627000 4 6 0 0 0.000248 0 0 DLK1 8788 broad.mit.edu 37 14 101200835 101200835 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:101200835C>T ENST00000341267.4 + 5 996 c.754C>T c.(754-756)Ccc>Tcc p.P252S DLK1_ENST00000331224.6_Intron NM_003836.5 NP_003827.3 P80370 DLK1_HUMAN delta-like 1 homolog (Drosophila) 252 multicellular organismal development extracellular space|integral to membrane|soluble fraction p.P252S(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1) 29 Melanoma(154;0.155) CGCGCTGAGCCCCCAGCAGGT 0.677000 12 58 0 0 0.001855 0 0 KCNH2 3757 broad.mit.edu 37 7 150644045 150644045 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:150644045G>T ENST00000392968.2 - 12 4082 c.2962C>A c.(2962-2964)Ccg>Acg p.P988T KCNH2_ENST00000262186.5_Missense_Mutation_p.P1084T|KCNH2_ENST00000330883.4_Missense_Mutation_p.P744T Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 1084 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity p.P1084T(1) NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CCAGGCCCCGGGGTGGTCACA 0.662000 18 97 8.34094e-07 1.21944e-06 0.001216 1 0 NUP210 23225 broad.mit.edu 37 3 13417095 13417095 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:13417095T>A ENST00000254508.5 - 11 1422 c.1340A>T c.(1339-1341)gAg>gTg p.E447V NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 447 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore p.E447G(1)|p.E447V(1) NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) AATTTCCACCTCCTGCTGGTT 0.527000 27 121 0 0 0.002096 0 0 BRPF3 27154 broad.mit.edu 37 6 36196766 36196766 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:36196766G>T ENST00000357641.6 + 12 3620 c.3367G>T c.(3367-3369)Gag>Tag p.E1123* BRPF3_ENST00000534400.1_Missense_Mutation_p.R1090I|BRPF3_ENST00000443324.2_Nonsense_Mutation_p.E789*|BRPF3_ENST00000339717.7_Nonsense_Mutation_p.E853*|BRPF3_ENST00000543502.1_Nonsense_Mutation_p.E853*|BRPF3_ENST00000534694.1_Nonsense_Mutation_p.E789* NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 1123 PWWP. histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding p.E1123*(1) breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 GAAGCTGGGAGAGCAGAAACA 0.602000 27 63 2.79863e-10 4.90988e-10 0.004656 1 0 CSMD3 114788 broad.mit.edu 37 8 114186001 114186001 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr8:114186001G>T ENST00000297405.5 - 4 903 c.659C>A c.(658-660)gCc>gAc p.A220D CSMD3_ENST00000455883.2_Missense_Mutation_p.A220D|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Missense_Mutation_p.A220D|CSMD3_ENST00000343508.3_Missense_Mutation_p.A180D NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 220 Sushi 1. integral to membrane|plasma membrane p.A220D(1)|p.A180D(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AACTGAATTGGCTATGCAGGT 0.428000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 20 99 1.10513e-12 2.11711e-12 0.002299 1 0 POM121L12 285877 broad.mit.edu 37 7 53103500 53103500 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:53103500C>A ENST00000408890.4 + 1 152 c.136C>A c.(136-138)Ccc>Acc p.P46T NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 46 p.P46T(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CACGCCATCTCCCCAGGGTCG 0.677000 10 39 1.08611e-07 1.70772e-07 0.000978 1 0 ACTG2 72 broad.mit.edu 37 2 74146648 74146648 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:74146648C>A ENST00000409624.1 + 10 1720 c.1077C>A c.(1075-1077)agC>agA p.S359R ACTG2_ENST00000409731.3_Missense_Mutation_p.S316R|ACTG2_ENST00000345517.3_Missense_Mutation_p.S359R P63267 ACTH_HUMAN actin, gamma 2, smooth muscle, enteric 359 muscle contraction cytoskeleton|cytosol ATP binding p.S359R(1) large_intestine(3)|lung(14)|skin(1) 18 TGTGGATCAGCAAGCCTGAGT 0.532000 27 80 8.24728e-16 1.69697e-15 0.004656 1 0 MAGEA4 4103 broad.mit.edu 37 X 151092221 151092221 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:151092221C>A ENST00000370335.1 + 3 352 c.85C>A c.(85-87)Cag>Aag p.Q29K MAGEA4_ENST00000370337.4_Missense_Mutation_p.Q29K|MAGEA4_ENST00000393921.1_Missense_Mutation_p.Q29K|MAGEA4_ENST00000276344.2_Missense_Mutation_p.Q29K|MAGEA4_ENST00000393920.1_Missense_Mutation_p.Q29K|MAGEA4_ENST00000360243.2_Missense_Mutation_p.Q29K|MAGEA4_ENST00000370340.3_Missense_Mutation_p.Q29K P43358 MAGA4_HUMAN melanoma antigen family A, 4 29 protein binding p.Q29K(1) breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) GGTGGGTGCACAGGCTCCTAC 0.612000 23 80 2.89027e-11 5.27421e-11 0.002299 1 0 FAM47A 158724 broad.mit.edu 37 X 34148514 34148514 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:34148514G>A ENST00000346193.3 - 1 1933 c.1882C>T c.(1882-1884)Ctg>Ttg p.L628L NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 628 p.L628L(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 AAGTCAAACAGATTCCTGATG 0.443000 21 85 0 0 0.001216 0 0 STX2 2054 broad.mit.edu 37 12 131293251 131293251 + Splice_Site SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:131293251T>A ENST00000261653.6 - 5 447 c.e5-2 STX2_ENST00000392373.2_Splice_Site NM_001980.3 NP_001971.2 P32856 STX2_HUMAN syntaxin 2 acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction basolateral plasma membrane|integral to membrane|microsome|soluble fraction calcium-dependent protein binding|SNAP receptor activity p.?(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1) 16 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05) GTTCAATAGCTAGGAACAAAT 0.353000 51 226 0 0 0.003610 0 0 UVSSA 57654 broad.mit.edu 37 4 1343559 1343559 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:1343559G>T ENST00000389851.4 + 3 793 c.346G>T c.(346-348)Gcc>Tcc p.A116S UVSSA_ENST00000511216.1_Missense_Mutation_p.A116S|UVSSA_ENST00000507531.1_Missense_Mutation_p.A116S NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 116 p.A116S(1) GACCACCCGGGCCGTGGAAGG 0.632000 9 46 9.70103e-10 1.66113e-09 0.000673 1 0 WSB1 26118 broad.mit.edu 37 17 25630509 25630509 + Missense_Mutation SNP T T C rs142114425 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:25630509T>C ENST00000262394.2 + 3 642 c.326T>C c.(325-327)aTa>aCa p.I109T WSB1_ENST00000348811.2_Intron|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000581185.1_Missense_Mutation_p.I109T|WSB1_ENST00000427287.2_Missense_Mutation_p.I78T|WSB1_ENST00000579733.1_Intron NM_015626.8 NP_056441.6 Q9Y6I7 WSB1_HUMAN WD repeat and SOCS box containing 1 109 intracellular signal transduction intracellular protein binding p.I109T(1) lung(3) 3 all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152) BRCA - Breast invasive adenocarcinoma(3;0.0152) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) TGTGGAGATATAGTCTGGAGT 0.383000 32 123 0 0 0.002445 0 0 ASB5 140458 broad.mit.edu 37 4 177142368 177142368 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:177142368G>A ENST00000296525.3 - 5 721 c.608C>T c.(607-609)aCt>aTt p.T203I ASB5_ENST00000512254.1_Missense_Mutation_p.T150I NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 203 intracellular signal transduction p.T203I(1) endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) ATAGAGAGGAGTTCCCAAATG 0.408000 20 65 0 0 0.001216 0 0 WDR70 55100 broad.mit.edu 37 5 37725121 37725121 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:37725121G>A ENST00000265107.4 + 16 1839 c.1683G>A c.(1681-1683)tcG>tcA p.S561S NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 561 central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCCTGAAGTCGCATAAACCTG 0.527000 11 971 0 0 0.000673 0 0 ZBTB33 10009 broad.mit.edu 37 X 119387450 119387450 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:119387450C>A ENST00000326624.2 + 2 408 c.180C>A c.(178-180)ctC>ctA p.L60L ZBTB33_ENST00000557385.1_Silent_p.L60L NM_006777.3 NP_006768.1 Q86T24 KAISO_HUMAN zinc finger and BTB domain containing 33 60 BTB.|Interaction with NCOR1.|Self-association (By similarity). intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding p.L60L(1) breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 26 TCCATCAGCTCTTCTCTGTTG 0.393000 53 303 4.88506e-25 1.14673e-24 0.003610 1 0 RAVER1 125950 broad.mit.edu 37 19 10444193 10444193 + Silent SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:10444193C>T ENST00000293677.6 - 1 123 c.42G>A c.(40-42)ggG>ggA p.G14G NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 0 cytoplasm|nucleus nucleotide binding|protein binding|RNA binding p.G14G(1) breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) TCTTGGGAAACCCGGCGCCTT 0.716000 3 22 0 0 0.004672 0 0 LOC220729 220729 broad.mit.edu 37 3 197348668 197348668 + RNA SNP C C G rs79940815 by1000genomes TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:197348668C>G ENST00000418868.1 - 0 591 NR_003266.2 ACTTGAGGCTCTGTCCACCAA 0.488000 3 74 0 0 0.000602 0 0 CSMD1 64478 broad.mit.edu 37 8 3076867 3076867 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr8:3076867C>G ENST00000520002.1 - 30 5140 c.4585G>C c.(4585-4587)Gaa>Caa p.E1529Q CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.E1528Q|CSMD1_ENST00000539096.1_Missense_Mutation_p.E1528Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.E1528Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.E1529Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.E1529Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.E1529Q Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1529 CUB 9. integral to membrane p.E1528Q(1)|p.E1257Q(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCTATTCTTTCTGGGGCCTGA 0.498000 2 3 0 0 0.004672 0 0 TAF1A 9015 broad.mit.edu 37 1 222736579 222736579 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:222736579C>A ENST00000350027.4 - 9 1174 c.1021G>T c.(1021-1023)Gga>Tga p.G341* TAF1A_ENST00000391882.1_Nonsense_Mutation_p.G227*|TAF1A_ENST00000352967.4_Nonsense_Mutation_p.G341*|TAF1A_ENST00000366890.1_Nonsense_Mutation_p.G227* NM_001201536.1 NP_001188465.1 Q15573 TAF1A_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa 341 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter RNA polymerase I transcription factor complex DNA binding p.G341*(1) kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1) 18 GBM - Glioblastoma multiforme(131;0.0186) TTAGTGCATCCGGCAAAATCT 0.333000 12 58 1.08611e-07 1.70772e-07 0.000978 1 0 YTHDC1 91746 broad.mit.edu 37 4 69195782 69195782 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:69195782C>A ENST00000344157.4 - 9 1622 c.1287G>T c.(1285-1287)gtG>gtT p.V429V YTHDC1_ENST00000355665.3_Silent_p.V411V|YTHDC1_ENST00000579690.1_Silent_p.V429V NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 429 YTH. p.V429V(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 CTGCTGGAAGCACCCAGTGTA 0.353000 19 97 1.56452e-12 2.95193e-12 0.007413 1 0 MAPK8IP1 9479 broad.mit.edu 37 11 45924235 45924235 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:45924235G>T ENST00000395629.2 + 5 1217 c.887G>T c.(886-888)cGg>cTg p.R296L MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.R306L Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting protein 1 306 vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity p.R306L(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2) 24 GBM - Glioblastoma multiforme(35;0.231) ACTGAGAGCCGGATGTCAGTC 0.667000 5 36 1.23904e-05 1.71612e-05 0.000602 1 0 BTBD8 284697 broad.mit.edu 37 1 92554451 92554451 + Splice_Site SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:92554451C>T ENST00000370382.3 + 2 613 c.347_splice c.e2+1 p.Q116_splice BTBD8_ENST00000540648.1_Splice_Site_p.Q116_splice|BTBD8_ENST00000342818.3_Splice_Site_p.Q116_splice Q5XKL5 BTBD8_HUMAN BTB (POZ) domain containing 8 116 BTB 1. nucleus p.Q116*(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1) 16 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) AACGTTTTTACAGTAAGTGCT 0.274000 7 49 0 0 0.001984 0 0 CNGA4 1262 broad.mit.edu 37 11 6260974 6260974 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:6260974G>T ENST00000379936.2 + 3 340 c.225G>T c.(223-225)acG>acT p.T75T CNGA4_ENST00000533426.1_Silent_p.T35T NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 75 response to stimulus|sensory perception of smell cAMP binding p.T75T(1) endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGACTACACGAGTGACCTGC 0.537000 6 20 2.0095e-06 2.89553e-06 0.001984 1 0 RAB3GAP2 25782 broad.mit.edu 37 1 220406195 220406195 + Silent SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:220406195T>C ENST00000358951.2 - 2 242 c.126A>G c.(124-126)acA>acG p.T42T NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 42 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity p.T42T(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) CTTCCCAGTCTGTTGATTTAC 0.338000 13 94 0 0 0.001855 0 0 DNAH9 1770 broad.mit.edu 37 17 11592912 11592912 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:11592912T>A ENST00000262442.3 + 20 3841 c.3773T>A c.(3772-3774)cTg>cAg p.L1258Q DNAH9_ENST00000454412.2_Missense_Mutation_p.L1258Q NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1258 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.L1258Q(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CATCAAATGCTGGATGCCAGG 0.483000 42 83 0 0 0.002522 0 0 TNXB 7148 broad.mit.edu 37 6 32035686 32035686 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:32035686C>A ENST00000375244.3 - 18 6497 c.6296G>T c.(6295-6297)gGg>gTg p.G2099V TNXB_ENST00000375247.2_Missense_Mutation_p.G2099V P22105 TENX_HUMAN tenascin XB 2171 Fibronectin type-III 13. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.G2099V(1)|p.G2186V(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TGTTAGCTCCCCCAGGAGCGG 0.647000 45 87 6.21074e-16 1.28854e-15 0.002852 1 0 HYDIN 54768 broad.mit.edu 37 16 70977730 70977730 + Silent SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:70977730C>T ENST00000393567.2 - 42 6804 c.6654G>A c.(6652-6654)ctG>ctA p.L2218L NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2218 p.L2217L(1)|p.L2169L(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TCCGCTCTGCCAGGATCTGCA 0.627000 9 46 0 0 0.000673 0 0 USP29 57663 broad.mit.edu 37 19 57641649 57641649 + Missense_Mutation SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:57641649A>G ENST00000254181.4 + 4 2060 c.1606A>G c.(1606-1608)Agt>Ggt p.S536G USP29_ENST00000598197.1_Missense_Mutation_p.S536G NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 536 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAAATCTTTAAGTTTATCTTC 0.423000 3 247 0 0 0.004672 0 0 UNC45B 146862 broad.mit.edu 37 17 33513323 33513323 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:33513323C>A ENST00000268876.5 + 20 2638 c.2541C>A c.(2539-2541)acC>acA p.T847T UNC45B_ENST00000394570.2_Silent_p.T845T|UNC45B_ENST00000433649.1_Silent_p.T845T|UNC45B_ENST00000378449.1_Silent_p.T766T|UNC45B_ENST00000591048.1_Silent_p.T766T NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 847 cell differentiation|muscle organ development cytosol binding p.T847T(2) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) TCCAGACAACCCAGTGGTTGG 0.557000 14 68 7.93312e-07 1.16664e-06 0.002450 1 0 SPATA31D5P 347127 broad.mit.edu 37 9 84531794 84531794 + RNA SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr9:84531794T>A ENST00000527857.1 + 0 1816 NR_026851.1 ATCCCAGCCCTACTACCTAGT 0.502000 16 30 0 0 0.003163 0 0 PCNT 5116 broad.mit.edu 37 21 47783460 47783460 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr21:47783460G>A ENST00000359568.5 + 14 2327 c.2220G>A c.(2218-2220)ctG>ctA p.L740L PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 740 Glu-rich. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding p.L740L(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) AGACTGAGCTGATGAAACAGG 0.388000 39 137 0 0 0.004289 0 0 GPHB5 122876 broad.mit.edu 37 14 63784422 63784422 + RNA SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:63784422G>T ENST00000539258.1 - 0 198 Q86YW7 GPHB5_HUMAN glycoprotein hormone beta 5 extracellular region hormone activity p.P48T(2) breast(1)|endometrium(1)|lung(4)|urinary_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978) CTGCAGCCTGGCTTCTTGGCC 0.597000 8 40 5.18039e-06 7.37947e-06 0.003080 1 0 ELOVL2 54898 broad.mit.edu 37 6 10995243 10995243 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:10995243G>T ENST00000354666.3 - 5 585 c.502C>A c.(502-504)Caa>Aaa p.Q168K NM_017770.3 NP_060240.3 Q9NXB9 ELOV2_HUMAN ELOVL fatty acid elongase 2 168 fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding p.Q168K(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2) 14 Breast(50;0.0418)|Ovarian(93;0.0919) all_hematologic(90;0.117) Epithelial(50;0.176) AACTTACTTTGTCCACAAGGT 0.383000 25 151 6.32553e-13 1.22588e-12 0.004656 1 0 SYN3 8224 broad.mit.edu 37 22 33260992 33260992 + Splice_Site SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr22:33260992C>A ENST00000358763.2 - 6 864 c.e6-1 SYN3_ENST00000332840.5_Splice_Site NM_001135774.1 NP_001129246.1 O14994 SYN3_HUMAN synapsin III neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity p.?(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 GCTGAGAGAACTAGGATAGAA 0.473000 25 150 6.12954e-19 1.35012e-18 0.004656 1 0 FAT4 79633 broad.mit.edu 37 4 126370833 126370833 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:126370833G>C ENST00000394329.3 + 9 8675 c.8662G>C c.(8662-8664)Ggc>Cgc p.G2888R FAT4_ENST00000335110.5_Missense_Mutation_p.G1186R NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2888 Cadherin 28. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G2888R(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TACTGAGATTGGCTCCAAAGT 0.353000 17 124 0 0 0.006122 0 0 KIAA1210 57481 broad.mit.edu 37 X 118220782 118220782 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:118220782C>T ENST00000402510.2 - 11 4410 c.4411G>A c.(4411-4413)Gat>Aat p.D1471N NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1471 p.D1295N(1)|p.D1471N(1) breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 TTTTCAACATCATCCTGATTG 0.438000 4 79 0 0 0.000248 0 0 RYR2 6262 broad.mit.edu 37 1 237656342 237656342 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:237656342G>T ENST00000366574.2 + 19 2233 c.1916G>T c.(1915-1917)gGa>gTa p.G639V RYR2_ENST00000542537.1_Missense_Mutation_p.G623V|RYR2_ENST00000360064.6_Missense_Mutation_p.G637V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 639 B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.G637V(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTCCTACCAGGAAGAGACTTG 0.438000 8 31 0.00307968 0.00380207 0.003080 1 0 IL6R 3570 broad.mit.edu 37 1 154422457 154422457 + Splice_Site SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:154422457G>A ENST00000368485.3 + 8 1503 c.e8+1 IL6R_ENST00000344086.4_Splice_Site|IL6R_ENST00000507256.1_Splice_Site NM_000565.3 NP_000556.1 P08887 IL6RA_HUMAN interleukin 6 receptor acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity p.?(1) IL6R/ATP8B2(2) breast(2)|large_intestine(1)|ovary(3) 6 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AGCCTCCCAGGTAAGGACTGG 0.433000 4 83 0 0 0.000248 0 0 PC 5091 broad.mit.edu 37 11 66631269 66631269 + Silent SNP C C A rs148281644 byFrequency TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:66631269C>A ENST00000393960.1 - 12 1625 c.1344G>T c.(1342-1344)gcG>gcT p.A448A PC_ENST00000355677.3_Silent_p.A448A|PC_ENST00000524491.1_Silent_p.A408A|PC_ENST00000393955.2_Silent_p.A448A|PC_ENST00000393958.2_Silent_p.A448A NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 448 Biotin carboxylation. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity p.A448A(1) cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CGCGGAACTCCGCAAGGGCCC 0.662000 31 177 1.88708e-17 4.06699e-17 0.001512 1 0 ACRC 93953 broad.mit.edu 37 X 70824043 70824043 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:70824043G>T ENST00000373695.1 + 7 1453 c.916G>T c.(916-918)Gac>Tac p.D306Y ACRC_ENST00000373696.3_Missense_Mutation_p.D306Y Q96QF7 ACRC_HUMAN acidic repeat containing 306 Asp/Ser-rich. nucleus p.D306Y(1) autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) GGAAGCTCCCGACGACAAGAG 0.512000 46 264 2.77807e-22 6.40108e-22 0.003214 1 0 ARHGEF15 22899 broad.mit.edu 37 17 8221720 8221720 + Missense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:8221720A>T ENST00000361926.3 + 10 1830 c.1720A>T c.(1720-1722)Aca>Tca p.T574S AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.T574S NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 574 DH. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.T574S(1) breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 CCTGCGCCAGACAGAAGAGGG 0.632000 15 141 0 0 0.004990 0 0 KRTAP15-1 254950 broad.mit.edu 37 21 31812741 31812741 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr21:31812741C>G ENST00000334067.3 + 1 145 c.96C>G c.(94-96)agC>agG p.S32R NM_181623.1 NP_853654.1 Q3LI76 KR151_HUMAN keratin associated protein 15-1 32 intermediate filament p.S32R(1) kidney(1)|large_intestine(3)|lung(6)|skin(1) 11 TCTACCCCAGCAATGCCATCT 0.478000 18 96 0 0 0.004990 0 0 BLK 640 broad.mit.edu 37 8 11414294 11414294 + Silent SNP C C T rs139994406 by1000genomes TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr8:11414294C>T ENST00000259089.4 + 9 1492 c.900C>T c.(898-900)taC>taT p.Y300Y RP11-148O21.4_ENST00000528629.1_RNA|BLK_ENST00000529894.1_Silent_p.Y229Y NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 300 Protein kinase. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity p.Y300Y(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) TCCGACTCTACGCAGTGGTCA 0.617000 8 35 0 0 0.003080 0 0 MAP3K19 80122 broad.mit.edu 37 2 135779380 135779380 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:135779380G>T ENST00000375845.3 - 2 73 c.43C>A c.(43-45)Ctt>Att p.L15I MAP3K19_ENST00000392917.3_Missense_Mutation_p.L15I|MAP3K19_ENST00000392918.3_Missense_Mutation_p.L15I|MAP3K19_ENST00000375844.3_Missense_Mutation_p.L15I|MAP3K19_ENST00000358371.4_Missense_Mutation_p.L15I|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.L32I NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 p.L15I(1) CAAATGTCAAGCAATGACTCA 0.338000 10 63 1.08611e-07 1.70772e-07 0.000978 1 0 NLRP12 91662 broad.mit.edu 37 19 54310879 54310879 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:54310879G>C ENST00000324134.6 - 4 2281 c.2113C>G c.(2113-2115)Ctg>Gtg p.L705V NLRP12_ENST00000391775.3_Missense_Mutation_p.L705V|NLRP12_ENST00000354278.3_Missense_Mutation_p.L705V|NLRP12_ENST00000351894.4_Missense_Mutation_p.L705V|NLRP12_ENST00000345770.5_Missense_Mutation_p.L706V|NLRP12_ENST00000391772.1_Missense_Mutation_p.L706V|NLRP12_ENST00000535162.1_Missense_Mutation_p.L705V|NLRP12_ENST00000391773.1_Missense_Mutation_p.L706V NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 705 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding p.L705V(1) NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GCCGCTGCCAGATGTTCACTG 0.562000 11 35 0 0 0.001855 0 0 OR4A47 403253 broad.mit.edu 37 11 48510784 48510784 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:48510784G>T ENST00000446524.1 + 1 516 c.440G>T c.(439-441)tGg>tTg p.W147L NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W147F(1) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 GTAGTGTCCTGGGTTGGAGGA 0.438000 22 98 1.96292e-10 3.46806e-10 0.001523 1 0 CPED1 79974 broad.mit.edu 37 7 120782149 120782149 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:120782149C>A ENST00000310396.5 + 16 2476 c.2009C>A c.(2008-2010)cCa>cAa p.P670Q CPED1_ENST00000450913.2_Missense_Mutation_p.P670Q|CPED1_ENST00000423795.1_Missense_Mutation_p.P450Q NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 p.P670Q(1) GAAGACCGCCCAAGTCTGCCC 0.433000 31 156 4.15321e-07 6.35048e-07 0.001786 1 0 PEAK1 79834 broad.mit.edu 37 15 77471208 77471208 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr15:77471208C>A ENST00000560626.2 - 4 3536 c.3061G>T c.(3061-3063)Gag>Tag p.E1021* PEAK1_ENST00000558305.1_Nonsense_Mutation_p.E1021*|PEAK1_ENST00000312493.4_Nonsense_Mutation_p.E1021* Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1021 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.E1021Q(2)|p.E1021*(2) AATGCATTCTCTGCTCTACCC 0.468000 9 63 0.00448238 0.00549311 0.004482 1 0 GPR18 2841 broad.mit.edu 37 13 99908075 99908075 + Missense_Mutation SNP G G T rs138394107 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr13:99908075G>T ENST00000340807.3 - 3 608 c.52C>A c.(52-54)Cca>Aca p.P18T GPR18_ENST00000397470.2_Missense_Mutation_p.P18T|GPR18_ENST00000397473.2_Missense_Mutation_p.P18T|UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron Q14330 GPR18_HUMAN G protein-coupled receptor 18 18 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.P18T(1) endometrium(2)|large_intestine(2)|lung(6) 10 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) TATTCATCTGGATGTGAGCTG 0.358000 30 112 8.88839e-20 2.01095e-19 0.002096 1 0 PI4KA 5297 broad.mit.edu 37 22 21178643 21178643 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr22:21178643C>A ENST00000255882.6 - 4 513 c.427G>T c.(427-429)Gcc>Tcc p.A143S PI4KA_ENST00000572273.1_Missense_Mutation_p.A85S NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 85 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding p.A85S(2) breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) TCCCTATAGGCCACATCAGAC 0.433000 6 59 0.00307968 0.00380207 0.003080 1 0 ARSF 416 broad.mit.edu 37 X 3002590 3002590 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:3002590C>A ENST00000381127.1 + 6 934 c.713C>A c.(712-714)aCg>aAg p.T238K ARSF_ENST00000359361.2_Missense_Mutation_p.T238K|ARSF_ENST00000537104.1_Missense_Mutation_p.T238K NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 238 extracellular region arylsulfatase activity|metal ion binding p.T238K(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCCAGCCACACGTCCCCTTTA 0.547000 14 129 3.41278e-10 5.9664e-10 0.004990 1 0 GRIN2A 2903 broad.mit.edu 37 16 10031860 10031860 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:10031860G>A ENST00000396573.2 - 4 1272 c.963C>T c.(961-963)taC>taT p.Y321Y GRIN2A_ENST00000396575.2_Silent_p.Y321Y|GRIN2A_ENST00000330684.3_Silent_p.Y321Y|GRIN2A_ENST00000404927.2_Silent_p.Y321Y|GRIN2A_ENST00000535259.1_Silent_p.Y164Y|GRIN2A_ENST00000562109.1_Silent_p.Y321Y NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 321 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 p.Y321Y(2) 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) CCATCTGCCCGTAGCAGCTGG 0.562000 8 50 0 0 0.003080 0 0 FRMD7 90167 broad.mit.edu 37 X 131212510 131212510 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:131212510C>A ENST00000298542.4 - 12 1710 c.1535G>T c.(1534-1536)aGa>aTa p.R512I FRMD7_ENST00000370879.1_Missense_Mutation_p.R392I|FRMD7_ENST00000464296.1_Missense_Mutation_p.R497I NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 512 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding p.R512I(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) TTCCTCTGCTCTAATTGGGGA 0.483000 58 239 2.14255e-21 4.9141e-21 0.003610 1 0 C5orf24 134553 broad.mit.edu 37 5 134190862 134190862 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:134190862G>T ENST00000394976.3 + 2 500 c.272G>T c.(271-273)gGc>gTc p.G91V C5orf24_ENST00000338051.4_Missense_Mutation_p.G91V|C5orf24_ENST00000435259.2_Missense_Mutation_p.G91V|C5orf24_ENST00000504727.1_Missense_Mutation_p.G91V NM_001135586.1 NP_001129058.1 Q7Z6I8 CE024_HUMAN chromosome 5 open reading frame 24 91 p.G91V(1) breast(2)|endometrium(2)|lung(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGTAAGCGTGGCCGGCCTTCG 0.478000 17 80 8.28177e-16 1.69708e-15 0.007413 1 0 CCDC33 80125 broad.mit.edu 37 15 74573106 74573106 + Silent SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr15:74573106C>T ENST00000321288.5 + 11 1596 c.1596C>T c.(1594-1596)ggC>ggT p.G532G CCDC33_ENST00000398814.3_Silent_p.G329G Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 532 protein binding p.G329G(1)|p.G532G(1) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CAGGGAAAGGCTTGGACGGGC 0.642000 10 56 0 0 0.001855 0 0 FOCAD 54914 broad.mit.edu 37 9 20946798 20946798 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr9:20946798G>T ENST00000380249.1 + 32 4018 c.3654G>T c.(3652-3654)ctG>ctT p.L1218L FOCAD_ENST00000605086.1_Silent_p.L654L|FOCAD_ENST00000338382.6_Silent_p.L1218L NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1218 integral to membrane binding p.L1218L(1) AGCTTCGACTGTTAGTGGAGA 0.453000 21 90 8.10497e-08 1.2906e-07 0.001523 1 0 ADAM23 8745 broad.mit.edu 37 2 207460798 207460798 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:207460798C>A ENST00000264377.3 + 24 2599 c.2271C>A c.(2269-2271)tgC>tgA p.C757* ADAM23_ENST00000374416.1_Nonsense_Mutation_p.C757*|ADAM23_ENST00000374415.3_Nonsense_Mutation_p.C757* NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 757 EGF-like. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.C757*(2) NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) AAGCCACCTGCATTTGTGATT 0.433000 8 49 3.09899e-07 4.76767e-07 0.004482 1 0 COL9A1 1297 broad.mit.edu 37 6 70970395 70970395 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:70970395C>A ENST00000357250.6 - 20 1572 c.1414G>T c.(1414-1416)Ggc>Tgc p.G472C COL9A1_ENST00000320755.7_Missense_Mutation_p.G229C|COL9A1_ENST00000370499.4_Missense_Mutation_p.G229C|COL9A1_ENST00000489611.1_5'UTR NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 472 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding p.G472C(1)|p.G229C(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 CCGGTGATGCCTCGCAAACCC 0.353000 5 22 0.000157383 0.00020654 0.003080 1 0 IL17B 27190 broad.mit.edu 37 5 148753957 148753957 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:148753957G>T ENST00000261796.3 - 3 568 c.518C>A c.(517-519)gCt>gAt p.A173D IL17B_ENST00000505432.1_5'UTR|RP11-394O4.3_ENST00000521756.1_RNA NM_014443.2 NP_055258.1 Q9UHF5 IL17B_HUMAN interleukin 17B 173 cell-cell signaling|immune response|inflammatory response extracellular space cytokine activity|signal transducer activity p.A173D(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGCCCACAGCGATGGTCTC 0.657000 11 36 1.36491e-13 2.6763e-13 0.001855 1 0 AHNAK2 113146 broad.mit.edu 37 14 105419467 105419467 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:105419467T>C ENST00000333244.5 - 7 2440 c.2321A>G c.(2320-2322)aAg>aGg p.K774R AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 774 nucleus p.K774R(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTTGGGGCCCTTGAGGTCCAC 0.632000 46 275 0 0 0.003610 0 0 PLXNA3 55558 broad.mit.edu 37 X 153694526 153694526 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:153694526C>A ENST00000369682.3 + 15 2887 c.2712C>A c.(2710-2712)ccC>ccA p.P904P NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 904 IPT/TIG 1. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity p.P904P(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CGCTGGTGCCCAGCCCGCCGC 0.682000 14 77 1.37285e-15 2.77906e-15 0.004007 1 0 SHOX 6473 broad.mit.edu 37 X 591669 591669 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:591669G>T ENST00000381578.1 + 2 728 c.37G>T c.(37-39)Gac>Tac p.D13Y SHOX_ENST00000554971.1_Missense_Mutation_p.D13Y|SHOX_ENST00000334060.3_Missense_Mutation_p.D13Y|SHOX_ENST00000381575.1_Missense_Mutation_p.D13Y NM_000451.3 NP_000442.1 O15266 SHOX_HUMAN short stature homeobox 13 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.D13Y(1) endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CAAGTCTTTTGACCAGAAAAG 0.637000 32 262 1.61788e-16 3.39891e-16 0.002445 1 0 RANBP2 5903 broad.mit.edu 37 2 109383771 109383771 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:109383771G>T ENST00000283195.6 + 20 6902 c.6776G>T c.(6775-6777)cGt>cTt p.R2259L NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 2259 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding p.R2259L(2) RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 AATCTTTTCCGTTTTGGTGAG 0.408000 80 507 4.21487e-37 1.01319e-36 0.003610 1 0 MOSPD2 158747 broad.mit.edu 37 X 14915215 14915215 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:14915215G>T ENST00000380492.3 + 5 420 c.332G>T c.(331-333)aGg>aTg p.R111M MOSPD2_ENST00000482354.1_Missense_Mutation_p.R111M|MOSPD2_ENST00000495110.1_3'UTR NM_001177475.1|NM_152581.3 NP_001170946.1|NP_689794.1 Q8NHP6 MSPD2_HUMAN motile sperm domain containing 2 111 CRAL-TRIO. integral to membrane structural molecule activity p.R111M(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(33;0.183) GTCTGGATCAGGGTGAAGTAT 0.328000 15 97 1.05317e-09 1.79111e-09 0.002450 1 0 CSRNP2 81566 broad.mit.edu 37 12 51458343 51458343 + Missense_Mutation SNP A A C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:51458343A>C ENST00000228515.1 - 5 1115 c.818T>G c.(817-819)aTt>aGt p.I273S NM_030809.2 NP_110436.1 Q9H175 CSRN2_HUMAN cysteine-serine-rich nuclear protein 2 273 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.I273S(1) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 14 CAGCTTCATAATGGTGTGGAG 0.592000 25 88 0 0 0.006320 0 0 MDN1 23195 broad.mit.edu 37 6 90428642 90428642 + Nonsense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:90428642A>T ENST00000369393.3 - 42 6280 c.6165T>A c.(6163-6165)tgT>tgA p.C2055* MDN1_ENST00000428876.1_Nonsense_Mutation_p.C2055* Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 2055 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding p.C2055*(1) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCATCTGCACACACTTCATGA 0.577000 22 74 0 0 0.001882 0 0 TRIM2 23321 broad.mit.edu 37 4 154191528 154191528 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:154191528G>T ENST00000338700.5 + 2 137 c.72G>T c.(70-72)caG>caT p.Q24H TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_5'UTR NM_015271.3 NP_056086.2 Q9C040 TRIM2_HUMAN tripartite motif containing 2 0 cytoplasm zinc ion binding p.Q24H(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1) 19 all_hematologic(180;0.093) Medulloblastoma(177;0.00225) GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703) CCCCATGTCAGTGGTCTAGGA 0.488000 17 121 3.51602e-12 6.60905e-12 0.001216 1 0 AP1B1 162 broad.mit.edu 37 22 29737726 29737726 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr22:29737726C>A ENST00000357586.2 - 13 1746 c.1560G>T c.(1558-1560)cgG>cgT p.R520R AP1B1_ENST00000356015.2_Silent_p.R520R|AP1B1_ENST00000432560.2_Silent_p.R520R|AP1B1_ENST00000317368.7_Silent_p.R520R|AP1B1_ENST00000402502.1_Silent_p.R520R|AP1B1_ENST00000405198.1_Silent_p.R520R|AP1B1_ENST00000415447.1_Silent_p.R520R NM_001127.3 NP_001118.3 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 520 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity p.R520R(1) endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 AGCCACGGTCCCGCAGGTCTG 0.597000 8 47 0.000157383 0.00020654 0.003080 1 0 OR1F1 4992 broad.mit.edu 37 16 3255074 3255074 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:3255074G>T ENST00000304646.2 + 1 828 c.828G>T c.(826-828)gtG>gtT p.V276V AJ003147.9_ENST00000576468.1_RNA NM_012360.1 NP_036492.1 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, member 1 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V276V(1) breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 TGGCTACTGTGTTGTATACAG 0.478000 27 167 1.75199e-13 3.42185e-13 0.007291 1 0 EYA1 2138 broad.mit.edu 37 8 72246386 72246386 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr8:72246386T>A ENST00000340726.3 - 4 787 c.148A>T c.(148-150)Agt>Tgt p.S50C EYA1_ENST00000419131.1_Missense_Mutation_p.S50C|EYA1_ENST00000388742.4_Missense_Mutation_p.S50C|EYA1_ENST00000388741.2_Missense_Mutation_p.S17C|EYA1_ENST00000388740.3_Missense_Mutation_p.S17C|EYA1_ENST00000388743.2_Missense_Mutation_p.S50C|EYA1_ENST00000303824.7_Missense_Mutation_p.S50C NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 50 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity p.S50C(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) GCTGTTTCACTGCTGCTCATT 0.328000 32 62 0 0 0.002836 0 0 LIPI 149998 broad.mit.edu 37 21 15561488 15561488 + Nonsense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr21:15561488A>T ENST00000344577.2 - 2 387 c.362T>A c.(361-363)tTg>tAg p.L121* LIPI_ENST00000536861.1_Nonsense_Mutation_p.L100* NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 100 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity p.L121*(1) endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TTCATTCAGCAAAATCCTTAC 0.373000 8 61 0 0 0.003080 0 0 RIMBP2 23504 broad.mit.edu 37 12 130921572 130921572 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:130921572C>A ENST00000261655.4 - 10 2033 c.1870G>T c.(1870-1872)Gcc>Tcc p.A624S RIMBP2_ENST00000536002.1_Missense_Mutation_p.A532S|RIMBP2_ENST00000535703.1_Missense_Mutation_p.A532S NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 624 Pro-rich. cell junction|synapse p.A624S(1) NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TGCTCCCAGGCCTCATCCATC 0.672000 5 30 0.000602214 0.000768131 0.000602 1 0 TEKT1 83659 broad.mit.edu 37 17 6703489 6703489 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:6703489G>A ENST00000338694.2 - 8 1243 c.1114C>T c.(1114-1116)Ctg>Ttg p.L372L TEKT1_ENST00000535086.1_Silent_p.L226L NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 372 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.L372L(1) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) TCCTCCTGCAGGGCAAGCTGT 0.483000 13 105 0 0 0.001855 0 0 MUC16 94025 broad.mit.edu 37 19 9061138 9061138 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:9061138T>C ENST00000397910.4 - 3 26511 c.26308A>G c.(26308-26310)Atc>Gtc p.I8770V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8772 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.I8770V(2)|p.I4403V(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATTCTAGTGATGGTTTCCGTG 0.493000 26 96 0 0 0.006320 0 0 SERPINB5 5268 broad.mit.edu 37 18 61166417 61166417 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr18:61166417G>A ENST00000382771.4 + 6 924 c.632G>A c.(631-633)aGt>aAt p.S211N SERPINB5_ENST00000464346.1_3'UTR NM_002639.4 NP_002630.2 P36952 SPB5_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 5 211 cellular component movement|regulation of proteolysis cytoplasm|extracellular space protein binding|serine-type endopeptidase inhibitor activity p.S211N(1) kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 12 AACATTGACAGTATCAATTGT 0.423000 9 60 0 0 0.006214 0 0 OR4M1 441670 broad.mit.edu 37 14 20248962 20248962 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:20248962G>T ENST00000315957.4 + 1 562 c.481G>T c.(481-483)Gct>Tct p.A161S NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A161S(1) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AATACAGGTGGCTCTCATTGT 0.512000 31 244 8.16721e-17 1.72304e-16 0.002096 1 0 ZNF800 168850 broad.mit.edu 37 7 127014765 127014765 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:127014765C>A ENST00000393313.1 - 5 1216 c.625G>T c.(625-627)Gaa>Taa p.E209* ZNF800_ENST00000265827.3_Nonsense_Mutation_p.E209*|ZNF800_ENST00000393312.1_Nonsense_Mutation_p.E209* Q2TB10 ZN800_HUMAN zinc finger protein 800 209 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E209*(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 TGAGGTTGTTCATCAGATGTA 0.418000 32 109 3.57733e-08 5.71458e-08 0.001786 1 0 MAGEB2 4113 broad.mit.edu 37 X 30237292 30237292 + Missense_Mutation SNP C C A rs45513291 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:30237292C>A ENST00000378988.4 + 2 696 c.595C>A c.(595-597)Ccc>Acc p.P199T NM_002364.4 NP_002355.2 O15479 MAGB2_HUMAN melanoma antigen family B, 2 199 MAGE. protein binding p.P199T(2) breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 CTGGGACTTTCCCAGGAGAAA 0.488000 10 33 2.17888e-05 2.98476e-05 0.006214 1 0 C1orf87 127795 broad.mit.edu 37 1 60505798 60505798 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:60505798G>A ENST00000371201.3 - 5 645 c.538C>T c.(538-540)Ctg>Ttg p.L180L C1orf87_ENST00000450089.2_Intron NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 180 calcium ion binding p.L180L(1) breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 CTTCTGACCAGGGCAAGAAGA 0.433000 36 123 0 0 0.005524 0 0 ARMC5 79798 broad.mit.edu 37 16 31476036 31476036 + Silent SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:31476036A>T ENST00000457010.2 + 4 2393 c.1692A>T c.(1690-1692)ccA>ccT p.P564P ARMC5_ENST00000538189.1_Silent_p.P596P|ARMC5_ENST00000408912.3_Silent_p.P659P|ARMC5_ENST00000412665.2_Silent_p.P208P|ARMC5_ENST00000268314.4_Silent_p.P564P|ARMC5_ENST00000563544.1_Silent_p.P564P NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 564 binding p.P564P(1)|p.P659P(1) central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CGCCCAGCCCACGTGCACTGC 0.706000 3 14 0 0 0.004672 0 0 LINS 55180 broad.mit.edu 37 15 101114229 101114229 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr15:101114229C>A ENST00000314742.8 - 5 1071 c.849G>T c.(847-849)atG>atT p.M283I LINS_ENST00000559149.1_5'UTR|LINS_ENST00000560133.1_Missense_Mutation_p.M164I|LINS_ENST00000561308.1_Missense_Mutation_p.M283I NM_001040616.2 NP_001035706.1 Q8NG48 LINES_HUMAN lines homolog (Drosophila) 283 p.M283I(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 TAACTTCTAGCATGCAAGATG 0.413000 8 50 1.26484e-09 2.1438e-09 0.003080 1 0 PARP8 79668 broad.mit.edu 37 5 50124151 50124151 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:50124151C>T ENST00000281631.5 + 21 2254 c.2096C>T c.(2095-2097)tCa>tTa p.S699L PARP8_ENST00000505697.2_Missense_Mutation_p.S699L|PARP8_ENST00000514342.2_Missense_Mutation_p.S410L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.S657L|PARP8_ENST00000505554.1_Missense_Mutation_p.S678L|PARP8_ENST00000503750.2_Missense_Mutation_p.S657L NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 699 PARP catalytic. intracellular NAD+ ADP-ribosyltransferase activity p.S699L(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) TTTAGTGGCTCACACATTGAA 0.378000 10 107 0 0 0.006214 0 0 XKRX 402415 broad.mit.edu 37 X 100178004 100178004 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:100178004C>A ENST00000328526.5 - 2 986 c.421G>T c.(421-423)Gag>Tag p.E141* XKRX_ENST00000372956.2_Nonsense_Mutation_p.E128*|XKRX_ENST00000468904.1_Intron NM_212559.2 NP_997724.2 Q6PP77 XKR2_HUMAN XK, Kell blood group complex subunit-related, X-linked 128 integral to membrane|plasma membrane p.E141*(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3) 22 TCCTCCTGCTCCTCTTTCTTC 0.512000 32 140 2.46105e-21 5.61884e-21 0.002096 1 0 AKAP12 9590 broad.mit.edu 37 6 151673210 151673210 + Silent SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:151673210G>C ENST00000402676.2 + 4 3924 c.3684G>C c.(3682-3684)gtG>gtC p.V1228V AKAP12_ENST00000253332.1_Silent_p.V1228V|AKAP12_ENST00000359755.5_Silent_p.V1123V|AKAP12_ENST00000354675.6_Silent_p.V1130V NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 1228 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding p.V1228V(1) breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) CCAGTTTTGTGTTCCAGGAAG 0.473000 16 59 0 0 0.004990 0 0 LZTR1 8216 broad.mit.edu 37 22 21343151 21343151 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr22:21343151G>T ENST00000215739.8 + 6 942 c.583G>T c.(583-585)Ggc>Tgc p.G195C LZTR1_ENST00000389355.3_Missense_Mutation_p.G176C|LZTR1_ENST00000479606.1_3'UTR NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 195 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity p.G195C(1) breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TGGCTATGACGGCAACGCCAG 0.637000 29 86 1.39806e-14 2.77392e-14 0.001512 1 0 DTX2 113878 broad.mit.edu 37 7 76112318 76112318 + Silent SNP G G T rs146537218 byFrequency TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:76112318G>T ENST00000324432.5 + 5 1272 c.762G>T c.(760-762)ggG>ggT p.G254G DTX2_ENST00000430490.2_Silent_p.G254G|DTX2_ENST00000307569.8_Silent_p.G254G|DTX2_ENST00000446820.2_Silent_p.G254G|DTX2_ENST00000446600.1_Silent_p.G163G|DTX2_ENST00000413936.2_Silent_p.G254G NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 254 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding p.G254G(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 CACTCTCCGGGGCCCGGTCTG 0.677000 24 230 4.43304e-23 1.02617e-22 0.006320 1 0 CHI3L2 1117 broad.mit.edu 37 1 111773424 111773424 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:111773424G>A ENST00000445067.2 + 5 902 c.131G>A c.(130-132)gGa>gAa p.G44E CHI3L2_ENST00000369744.2_Missense_Mutation_p.G34E|CHI3L2_ENST00000524472.1_5'UTR|CHI3L2_ENST00000466741.1_5'UTR|CHI3L2_ENST00000369748.4_Missense_Mutation_p.G44E Q15782 CH3L2_HUMAN chitinase 3-like 2 44 chitin catabolic process extracellular space cation binding|chitinase activity p.G44E(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1) 19 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) CAGGAACCAGGAAAATTCACC 0.478000 13 52 0 0 0.001855 0 0 ZNF546 339327 broad.mit.edu 37 19 40520110 40520110 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:40520110T>A ENST00000347077.4 + 7 1149 c.933T>A c.(931-933)agT>agA p.S311R ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.S285R NM_178544.3 NP_848639.2 Q86UE3 ZN546_HUMAN zinc finger protein 546 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S311R(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 34 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) AAGCCTTTAGTCGTGTTAGAG 0.408000 18 109 0 0 0.006122 0 0 NCAPD3 23310 broad.mit.edu 37 11 134051057 134051057 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:134051057C>A ENST00000534548.2 - 20 2538 c.2474G>T c.(2473-2475)gGg>gTg p.G825V RP11-700F16.3_ENST00000531710.1_RNA NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 825 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding p.G825V(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) GAGTACATCCCCACACACCTG 0.522000 16 37 2.32078e-09 3.90704e-09 0.003163 1 0 CCDC112 153733 broad.mit.edu 37 5 114607173 114607173 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:114607173C>A ENST00000379611.5 - 7 1356 c.1069G>T c.(1069-1071)Gca>Tca p.A357S CCDC112_ENST00000506442.1_Missense_Mutation_p.A274S|CCDC112_ENST00000395557.4_Missense_Mutation_p.A274S|CCDC112_ENST00000512261.1_Missense_Mutation_p.A274S NM_001040440.2 NP_001035530.1 Q8NEF3 CC112_HUMAN coiled-coil domain containing 112 274 p.A357S(1) endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1) 20 all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06) GCTTCAACTGCCAAtttctgt 0.333000 15 87 1.49906e-05 2.07052e-05 0.002450 1 0 MBOAT1 154141 broad.mit.edu 37 6 20152873 20152873 + Missense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:20152873A>T ENST00000324607.7 - 2 391 c.227T>A c.(226-228)gTc>gAc p.V76D MBOAT1_ENST00000541730.1_5'UTR|MBOAT1_ENST00000536798.1_Missense_Mutation_p.V76D NM_001080480.1 NP_001073949.1 Q6ZNC8 MBOA1_HUMAN membrane bound O-acyltransferase domain containing 1 76 phospholipid biosynthetic process integral to membrane acyltransferase activity p.V76D(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5) 20 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) ACAAAAGATGACAAAATAGAT 0.438000 5 8 0 0 0.001168 0 0 HAUS3 79441 broad.mit.edu 37 4 2238091 2238091 + Missense_Mutation SNP T T C rs150101454 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:2238091T>C ENST00000243706.4 - 4 1671 c.1442A>G c.(1441-1443)aAt>aGt p.N481S HAUS3_ENST00000443786.2_Missense_Mutation_p.N481S|POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Intron NM_024511.5 NP_078787.2 Q68CZ6 HAUS3_HUMAN HAUS augmin-like complex, subunit 3 481 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle p.N481S(1) breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 TAAAGAAATATTCTGTTTCAA 0.368000 22 66 0 0 0.003330 0 0 EGFL6 25975 broad.mit.edu 37 X 13624574 13624574 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:13624574C>A ENST00000361306.1 + 6 854 c.597C>A c.(595-597)taC>taA p.Y199* EGFL6_ENST00000380602.3_Nonsense_Mutation_p.Y199* NM_001167890.1|NM_015507.3 NP_001161362.1|NP_056322.2 Q8IUX8 EGFL6_HUMAN EGF-like-domain, multiple 6 199 EGF-like 4; calcium-binding (Potential). cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding p.Y199*(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3) 23 GAAGCTACTACTGCAAATGTC 0.413000 41 134 2.87052e-16 5.98025e-16 0.005524 1 0 CDH18 1016 broad.mit.edu 37 5 19520859 19520859 + Silent SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:19520859T>A ENST00000507958.1 - 12 2409 c.1419A>T c.(1417-1419)acA>acT p.T473T CDH18_ENST00000382275.1_Silent_p.T473T|CDH18_ENST00000511273.1_Silent_p.T473T|CDH18_ENST00000274170.4_Silent_p.T473T|CDH18_ENST00000502796.1_Silent_p.T473T|CDH18_ENST00000506372.1_Silent_p.T473T Q13634 CAD18_HUMAN cadherin 18, type 2 473 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T473T(2) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TAATACCCACTGTGACATGGC 0.388000 48 93 0 0 0.003610 0 0 TENM4 26011 broad.mit.edu 37 11 78387379 78387379 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:78387379G>A ENST00000278550.7 - 30 5776 c.5314C>T c.(5314-5316)Ctg>Ttg p.L1772L NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 p.L1772L(2) CCGTTGGCCAGCAGCAGCCGC 0.622000 3 61 0 0 0.004672 0 0 UBN1 29855 broad.mit.edu 37 16 4910738 4910738 + Silent SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:4910738C>T ENST00000396658.4 + 6 1448 c.745C>T c.(745-747)Cta>Tta p.L249L UBN1_ENST00000545171.1_Silent_p.L249L|UBN1_ENST00000262376.6_Silent_p.L249L|UBN1_ENST00000590769.1_Silent_p.L249L NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 249 Lys-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.L249L(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 TAAAGAGATGCTAAAGAAATT 0.478000 38 171 0 0 0.003755 0 0 LCE2C 353140 broad.mit.edu 37 1 152648743 152648743 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:152648743C>A ENST00000368783.1 + 2 307 c.252C>A c.(250-252)cgC>cgA p.R84R LCE2B_ENST00000417924.2_Intron NM_178429.2 NP_848516.1 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 84 Cys-rich. keratinization p.R84R(1) endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 13 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TCCACCGGCGCCGGCACCAGA 0.682000 28 95 7.41945e-09 1.20838e-08 0.005443 1 0 SCN4A 6329 broad.mit.edu 37 17 62018615 62018615 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:62018615C>A ENST00000435607.1 - 24 5103 c.5027G>T c.(5026-5028)tGc>tTc p.C1676F SCN4A_ENST00000578147.1_Missense_Mutation_p.C1676F NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1676 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.C1676F(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GATGTCCAGGCAGTGGATCTT 0.567000 23 89 1.85244e-09 3.12912e-09 0.003330 1 0 DHRS4 10901 broad.mit.edu 37 14 24435560 24435560 + Silent SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:24435560G>C ENST00000313250.5 + 6 803 c.600G>C c.(598-600)ctG>ctC p.L200L DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000308178.8_Intron|DHRS4_ENST00000558263.1_Intron|DHRS4_ENST00000397075.3_Intron|DHRS4_ENST00000543741.2_Intron|DHRS4_ENST00000382761.3_Intron|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000421831.1_Silent_p.L148L|DHRS4_ENST00000559632.1_Intron|DHRS4_ENST00000558581.1_Silent_p.L166L NM_021004.2 NP_066284.2 Q9BTZ2 DHRS4_HUMAN dehydrogenase/reductase (SDR family) member 4 200 mitochondrion|nuclear membrane|peroxisome binding|carbonyl reductase (NADPH) activity p.L200L(1) central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) CCATAGAGCTGGCCCCAAGGA 0.507000 14 180 0 0 0.003163 0 0 SLC28A1 9154 broad.mit.edu 37 15 85487830 85487830 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr15:85487830C>T ENST00000394573.1 + 17 1899 c.1697C>T c.(1696-1698)tCc>tTc p.S566F SLC28A1_ENST00000538177.1_Missense_Mutation_p.S400F|SLC28A1_ENST00000537216.1_Intron|SLC28A1_ENST00000286749.3_Missense_Mutation_p.S566F|SLC28A1_ENST00000537624.1_Missense_Mutation_p.S566F NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 566 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding p.S566F(1) breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGCGACTTCTCCCAGATAGTG 0.637000 3 35 0 0 0.004672 0 0 CTAG2 30848 broad.mit.edu 37 X 153880408 153880408 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:153880408G>A ENST00000369585.3 - 3 590 c.538C>T c.(538-540)Cgc>Tgc p.R180C CTAG2_ENST00000247306.4_3'UTR NM_172377.3 NP_758965.1 O75638 CTAG2_HUMAN cancer/testis antigen 2 0 centrosome p.R180C(1) central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1) 10 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGGGCTTAGCGCCTCTGCCCT 0.597000 12 61 0 0 0.002450 0 0 MYH2 4620 broad.mit.edu 37 17 10443964 10443964 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:10443964C>A ENST00000245503.5 - 11 1339 c.955G>T c.(955-957)Ggg>Tgg p.G319W CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.G319W|MYH2_ENST00000397183.2_Missense_Mutation_p.G319W NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 319 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.G319W(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CTGATCTCCCCTTGACTGACA 0.383000 13 54 0.00400662 0.00493427 0.004007 1 0 ARMC3 219681 broad.mit.edu 37 10 23244787 23244787 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr10:23244787C>A ENST00000298032.5 + 4 302 c.218C>A c.(217-219)aCt>aAt p.T73N ARMC3_ENST00000464017.1_3'UTR|ARMC3_ENST00000376528.4_5'UTR|ARMC3_ENST00000409983.3_Missense_Mutation_p.T73N|ARMC3_ENST00000409049.3_Missense_Mutation_p.T73N NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 73 binding p.T73N(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GAACCTTTAACTAAGCTACTC 0.348000 8 49 1.12685e-05 1.56943e-05 0.004482 1 0 ATXN3L 92552 broad.mit.edu 37 X 13337046 13337046 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:13337046G>T ENST00000380622.2 - 1 1472 c.1008C>A c.(1006-1008)gcC>gcA p.A336A GS1-600G8.3_ENST00000431486.1_RNA NM_001135995.1 NP_001129467.1 Q9H3M9 ATX3L_HUMAN ataxin 3-like 336 protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity p.A336A(1) endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 TGTCGACAGCGGCCTGTACTG 0.393000 63 210 2.23399e-28 5.29383e-28 0.003610 1 0 MMEL1 79258 broad.mit.edu 37 1 2524404 2524404 + Splice_Site SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:2524404G>T ENST00000288709.6 - 20 2082 c.1840_splice c.e20-1 p.G614_splice MMEL1_ENST00000502556.1_Splice_Site_p.G466_splice|MMEL1_ENST00000378412.3_Splice_Site_p.G623_splice NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 623 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity p.G614G(1) cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) CGAAGTTCCGGCCTGGGCAGG 0.632000 9 66 0.00185496 0.00230716 0.001855 1 0 LATS2 26524 broad.mit.edu 37 13 21557438 21557438 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr13:21557438C>A ENST00000382592.4 - 5 2812 c.2407G>T c.(2407-2409)Ggt>Tgt p.G803C LATS2_ENST00000542899.1_Missense_Mutation_p.G803C NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 803 Protein kinase. cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.G803C(2) breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) TTAATGTGACCATCCAGATCT 0.458000 13 58 1.61879e-10 2.8907e-10 0.001368 1 0 CR1 1378 broad.mit.edu 37 1 207739213 207739213 + Silent SNP T T C rs56229517 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:207739213T>C ENST00000367049.4 + 24 3897 c.3897T>C c.(3895-3897)taT>taC p.Y1299Y RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Intron|CR1_ENST00000400960.2_Silent_p.Y849Y|CR1_ENST00000367053.1_Silent_p.Y849Y|CR1_ENST00000367051.1_Silent_p.Y849Y NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 849 Sushi 20. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.Y854Y(1)|p.Y1299Y(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTGCTAGTTATTGTGTCTTGG 0.423000 13 166 0 0 0.001855 0 0 HCCAT5 283902 broad.mit.edu 37 16 73126680 73126680 + RNA SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:73126680T>C ENST00000569990.2 + 0 433 NR_027756.1 CCCTGCTATTTATGGGTTGCT 0.507000 2 5 0 0 0.004672 0 0 SLC5A7 60482 broad.mit.edu 37 2 108604753 108604753 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:108604753G>T ENST00000264047.2 + 2 418 c.142G>T c.(142-144)Gat>Tat p.D48Y SLC5A7_ENST00000409059.1_Missense_Mutation_p.D48Y|SLC5A7_ENST00000540517.1_Intron NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 48 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity p.D48Y(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TGGTGGCCGAGATATTGGTTT 0.527000 11 60 1.58986e-06 2.29749e-06 0.000673 1 0 SYT13 57586 broad.mit.edu 37 11 45275883 45275883 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:45275883T>C ENST00000020926.3 - 3 593 c.482A>G c.(481-483)aAa>aGa p.K161R CTD-2560E9.5_ENST00000534342.1_RNA|CTD-2560E9.5_ENST00000531663.1_RNA NM_001247987.1|NM_020826.2 NP_001234916.1|NP_065877.1 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 161 transport vesicle p.K161R(1) breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 GTAGTGGAGTTTGGGGGCCTG 0.517000 15 42 0 0 0.003163 0 0 ZBTB2 57621 broad.mit.edu 37 6 151687533 151687533 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:151687533T>C ENST00000325144.4 - 3 808 c.668A>G c.(667-669)gAa>gGa p.E223G NM_020861.1 NP_065912.1 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 223 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E223G(1) breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) GGAAGATGCTTCCAGATTGGT 0.552000 16 78 0 0 0.004007 0 0 MYOF 26509 broad.mit.edu 37 10 95126285 95126285 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr10:95126285T>C ENST00000371501.4 - 26 2739 c.2617A>G c.(2617-2619)Aaa>Gaa p.K873E MYOF_ENST00000359263.4_Missense_Mutation_p.K873E|MYOF_ENST00000371502.4_Missense_Mutation_p.K873E|MYOF_ENST00000358334.5_Missense_Mutation_p.K860E Q9NZM1 MYOF_HUMAN myoferlin 873 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding p.K873E(1) NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GTACCCCATTTTCCAAACATG 0.348000 18 61 0 0 0.006122 0 0 GRIA4 2893 broad.mit.edu 37 11 105795225 105795225 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:105795225T>C ENST00000393127.2 + 12 2023 c.1577T>C c.(1576-1578)aTc>aCc p.I526T GRIA4_ENST00000525187.1_Missense_Mutation_p.I526T|GRIA4_ENST00000530497.1_Missense_Mutation_p.I526T|GRIA4_ENST00000282499.5_Missense_Mutation_p.I526T NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 526 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TCTATCATGATCAAAAAGCCT 0.438000 4 229 0 0 0.000248 0 0 PDE6B 5158 broad.mit.edu 37 4 647771 647771 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:647771C>A ENST00000255622.6 + 4 885 c.842C>A c.(841-843)aCc>aAc p.T281N PDE6B_ENST00000429163.2_Missense_Mutation_p.T2N|RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000496514.1_Missense_Mutation_p.T281N NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 281 GAF 2. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding p.T281N(1) NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CTGGACATGACCAAGGAGAAG 0.652000 8 61 1.06961e-07 1.6978e-07 0.003080 1 0 SERPINB13 5275 broad.mit.edu 37 18 61259708 61259708 + Nonsense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr18:61259708C>T ENST00000344731.5 + 4 454 c.352C>T c.(352-354)Caa>Taa p.Q118* SERPINB13_ENST00000269489.5_Nonsense_Mutation_p.Q118* NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 118 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 CCTCTTCCTTCAAGTAAGTTT 0.423000 7 38 0 0 0.004482 0 0 LRRC37A 9884 broad.mit.edu 37 17 44408380 44408380 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:44408380C>A ENST00000320254.5 + 9 3740 c.3737C>A c.(3736-3738)tCt>tAt p.S1246Y ARL17B_ENST00000575698.1_Intron|ARL17B_ENST00000575960.1_Intron|LRRC37A_ENST00000496930.1_Missense_Mutation_p.S284Y|ARL17B_ENST00000434041.2_Intron|ARL17B_ENST00000570618.1_Intron|LRRC37A_ENST00000393465.3_Missense_Mutation_p.S1246Y NM_014834.4 NP_055649.4 A6NMS7 L37A1_HUMAN leucine rich repeat containing 37A 1246 integral to membrane p.S1246Y(1) endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1) 11 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) GCAGCAGTCTCTGTGCTGAAA 0.557000 11 18 0.00074312 0.000943046 0.006122 1 0 CHST4 10164 broad.mit.edu 37 16 71570875 71570875 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:71570875C>A ENST00000338482.5 + 3 638 c.295C>A c.(295-297)Cgg>Agg p.R99R CHST4_ENST00000572450.1_Silent_p.R99R|RP11-510M2.9_ENST00000572693.1_RNA|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Silent_p.R99R Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 99 cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity p.R99R(1) cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 GGATCTGATACGGGCCGTCTT 0.592000 28 69 4.59853e-10 7.98356e-10 0.005443 1 0 TRPC5 7224 broad.mit.edu 37 X 111195529 111195529 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:111195529C>A ENST00000262839.2 - 2 1038 c.120G>T c.(118-120)gtG>gtT p.V40V NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 40 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity p.V40V(1) biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CCCCCTTCTCCACAGCATTGA 0.542000 19 77 2.4624e-09 4.11772e-09 0.001216 1 0 BIRC8 112401 broad.mit.edu 37 19 53793473 53793473 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:53793473T>A ENST00000426466.1 - 1 1402 c.155A>T c.(154-156)aAg>aTg p.K52M NM_033341.4 NP_203127.3 Q96P09 BIRC8_HUMAN baculoviral IAP repeat containing 8 52 apoptosis zinc ion binding p.K52M(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1) 19 GBM - Glioblastoma multiforme(134;0.00304) AGGATCTTCCTTGGGCTTCCA 0.428000 19 80 0 0 0.006122 0 0 MYO10 4651 broad.mit.edu 37 5 16672820 16672820 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:16672820C>A ENST00000513610.1 - 37 5741 c.5287G>T c.(5287-5289)Gat>Tat p.D1763Y MYO10_ENST00000274203.9_Missense_Mutation_p.D1120Y|MYO10_ENST00000427430.2_Missense_Mutation_p.D1120Y|MYO10_ENST00000505695.1_Missense_Mutation_p.D1102Y|MYO10_ENST00000515803.1_Missense_Mutation_p.D1102Y NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1763 FERM. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity p.D1763Y(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 GCTAAGACATCAGCTACGACG 0.478000 21 63 1.2644e-06 1.84316e-06 0.001523 1 0 CLEC1A 51267 broad.mit.edu 37 12 10241744 10241744 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:10241744G>C ENST00000315330.4 - 2 255 c.193C>G c.(193-195)Ctg>Gtg p.L65V CLEC1A_ENST00000457018.2_Intron|CLEC1A_ENST00000420265.2_Intron NM_016511.2 NP_057595.2 Q8NC01 CLC1A_HUMAN C-type lectin domain family 1, member A 65 cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity p.L65L(1)|p.L65V(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 23 AGGGCTGCCAGCCCTATCAGC 0.552000 5 52 0 0 0.001168 0 0 TFAP2D 83741 broad.mit.edu 37 6 50696930 50696930 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:50696930G>C ENST00000008391.3 + 5 1016 c.788G>C c.(787-789)cGc>cCc p.R263P TFAP2D_ENST00000492804.1_3'UTR NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 263 DNA binding|sequence-specific DNA binding transcription factor activity p.R263P(1) NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) AATGGGGGCCGCTGCCTGAGA 0.418000 22 149 0 0 0.002299 0 0 CHEK1 1111 broad.mit.edu 37 11 125497573 125497573 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:125497573T>C ENST00000534070.1 + 3 392 c.137T>C c.(136-138)gTa>gCa p.V46A CHEK1_ENST00000278916.3_Missense_Mutation_p.V46A|CHEK1_ENST00000438015.1_Missense_Mutation_p.V46A|CHEK1_ENST00000428830.2_Missense_Mutation_p.V46A|CHEK1_ENST00000427383.2_Intron|CHEK1_ENST00000524737.1_Missense_Mutation_p.V46A|CHEK1_ENST00000532449.1_Intron|CHEK1_ENST00000544373.1_Missense_Mutation_p.V46A NM_001274.5 NP_001265.2 O14757 CHK1_HUMAN checkpoint kinase 1 46 Protein kinase. cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity p.V46A(1) central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) AAGCGTGCCGTAGACTGTCCA 0.343000 Other conserved DNA damage response genes 3 89 0 0 0.004672 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801850 185801850 + Missense_Mutation SNP A A C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:185801850A>C ENST00000302277.6 + 4 2321 c.1727A>C c.(1726-1728)aAa>aCa p.K576T NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 576 intracellular zinc ion binding p.K576T(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 CTAGATGAAAAATACAACAAA 0.303000 3 80 0 0 0.004672 0 0 OR5L1 219437 broad.mit.edu 37 11 55579627 55579627 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:55579627G>T ENST00000333973.2 + 1 774 c.685G>T c.(685-687)Ggc>Tgc p.G229C NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G229C(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) CCTGAAGATGGGCTCTGCAGA 0.512000 30 117 3.1745e-13 6.17606e-13 0.001512 1 0 FBN2 2201 broad.mit.edu 37 5 127666379 127666379 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:127666379C>G ENST00000508053.1 - 39 5205 c.4231G>C c.(4231-4233)Gaa>Caa p.E1411Q FBN2_ENST00000507835.1_Missense_Mutation_p.E261Q|FBN2_ENST00000262464.4_Missense_Mutation_p.E1411Q|FBN2_ENST00000508989.1_Missense_Mutation_p.E1378Q P35556 FBN2_HUMAN fibrillin 2 1411 EGF-like 23; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.E1411Q(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TTAGAACATTCGTCCAGATCT 0.428000 7 30 0 0 0.001984 0 0 SCG3 29106 broad.mit.edu 37 15 51991556 51991556 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr15:51991556G>C ENST00000220478.3 + 9 1429 c.1026G>C c.(1024-1026)aaG>aaC p.K342N SCG3_ENST00000542355.2_Missense_Mutation_p.K110N NM_013243.3 NP_037375.2 Q8WXD2 SCG3_HUMAN secretogranin III 342 platelet activation|platelet degranulation extracellular region|stored secretory granule p.K342N(1) breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) CCAAAAACAAGCTAGAAAAAA 0.313000 12 128 0 0 0.002450 0 0 OPRK1 4986 broad.mit.edu 37 8 54142028 54142028 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr8:54142028G>T ENST00000265572.3 - 4 1269 c.972C>A c.(970-972)agC>agA p.S324R OPRK1_ENST00000524278.1_Missense_Mutation_p.S235R|OPRK1_ENST00000520287.1_Missense_Mutation_p.S324R|RP11-162D9.3_ENST00000524425.1_RNA NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 324 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding p.S324R(1) NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) TGGGATTCAGGCTACTGTTGG 0.512000 8 65 0.00307968 0.00380207 0.003080 1 0 CEP44 80817 broad.mit.edu 37 4 175237375 175237375 + Silent SNP A A C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:175237375A>C ENST00000503780.1 + 10 1434 c.1020A>C c.(1018-1020)acA>acC p.T340T CEP44_ENST00000296519.4_Silent_p.T340T|CEP44_ENST00000457424.2_Silent_p.T340T|CEP44_ENST00000426172.1_Silent_p.T340T NM_001040157.2 NP_001035247.1 Q9C0F1 CEP44_HUMAN centrosomal protein 44kDa 340 centrosome|midbody|spindle pole p.T340T(1) endometrium(2)|large_intestine(4)|lung(5)|stomach(1) 12 GCTATAGTACAGCATCATCAG 0.373000 29 150 0 0 0.002096 0 0 PLCB4 5332 broad.mit.edu 37 20 9374320 9374320 + Missense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:9374320A>T ENST00000378501.2 + 15 1424 c.1409A>T c.(1408-1410)gAa>gTa p.E470V PLCB4_ENST00000334005.3_Missense_Mutation_p.E470V|PLCB4_ENST00000378473.3_Missense_Mutation_p.E470V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.E470V|PLCB4_ENST00000414679.2_Missense_Mutation_p.E470V|PLCB4_ENST00000378493.1_Missense_Mutation_p.E470V NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 470 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.E470V(1) NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CCTGAAGTTGAAAAAAGTAAG 0.363000 OREG0025771 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 63 0 0 0.002780 0 0 APOC4-APOC2 100533990 broad.mit.edu 37 19 45448463 45448463 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:45448463G>A ENST00000419266.2 + 3 325 c.285G>A c.(283-285)ccG>ccA p.P95P APOC4-APOC2_ENST00000589057.1_Intron|APOC4_ENST00000592954.1_Silent_p.P95P|APOC4-APOC2_ENST00000436871.1_Silent_p.P95P p.P95P(1) ACCTGGGTCCGCTCACCAAGG 0.592000 6 298 0 0 0.001984 0 0 FSTL5 56884 broad.mit.edu 37 4 162380417 162380417 + Nonsense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:162380417G>A ENST00000306100.5 - 14 2099 c.1663C>T c.(1663-1665)Cag>Tag p.Q555* FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Q554*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Q545*|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Q554* NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 555 extracellular region calcium ion binding p.Q555*(1) central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) ACCCAGACCTGATCATGTGAT 0.358000 13 70 0 0 0.002450 0 0 TEX11 56159 broad.mit.edu 37 X 69902602 69902602 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:69902602G>T ENST00000395889.2 - 15 1278 c.1123C>A c.(1123-1125)Ctg>Atg p.L375M TEX11_ENST00000374320.2_Missense_Mutation_p.L50M|TEX11_ENST00000374333.2_Missense_Mutation_p.L360M|TEX11_ENST00000344304.3_Missense_Mutation_p.L375M NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 375 protein binding p.L360M(1) breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) TGGAGTATCAGAACTTTTCCA 0.358000 14 45 9.31168e-06 1.30782e-05 0.001855 1 0 TAS2R60 338398 broad.mit.edu 37 7 143140666 143140666 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:143140666G>T ENST00000332690.1 + 1 121 c.121G>T c.(121-123)Gct>Tct p.A41S EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 41 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity p.A41S(1) breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) CATCACTGCTGCTCTGGGCGT 0.493000 42 124 1.62957e-23 3.7897e-23 0.001951 1 0 SLC35G1 159371 broad.mit.edu 37 10 95661109 95661109 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr10:95661109G>T ENST00000371408.3 + 3 1018 c.957G>T c.(955-957)atG>atT p.M319I SLC35G1_ENST00000427197.1_Missense_Mutation_p.M320I Q2M3R5 TMM20_HUMAN solute carrier family 35, member G1 320 DUF6 2. integral to membrane p.M319I(1) TGAAGACAATGGATGTGGTCT 0.403000 8 76 1.12685e-05 1.56943e-05 0.004482 1 0 TENM1 10178 broad.mit.edu 37 X 123839006 123839006 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:123839006G>A ENST00000422452.2 - 5 935 c.872C>T c.(871-873)cCt>cTt p.P291L TENM1_ENST00000371130.3_Missense_Mutation_p.P291L NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 p.P293L(1) AGGCCTGGGAGGGGGCGAGTA 0.527000 38 218 0 0 0.007835 0 0 FANCB 2187 broad.mit.edu 37 X 14882911 14882911 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:14882911T>A ENST00000398334.1 - 3 989 c.722A>T c.(721-723)cAt>cTt p.H241L FANCB_ENST00000324138.3_Missense_Mutation_p.H241L NM_001018113.1 NP_001018123.1 Q8NB91 FANCB_HUMAN Fanconi anemia, complementation group B 241 DNA repair nucleoplasm p.H241L(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) TGCACAAATATGTACATAAGT 0.338000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 20 94 0 0 0.007413 0 0 SMG8 55181 broad.mit.edu 37 17 57288024 57288024 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:57288024C>G ENST00000543872.2 + 2 876 c.612C>G c.(610-612)ttC>ttG p.F204L SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.F204L|SMG8_ENST00000578922.1_Missense_Mutation_p.F204L|CTD-2510F5.6_ENST00000577660.1_Intron Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 204 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding p.F204L(1) NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 TTTACCTATTCTCTGTCTGTC 0.498000 13 64 0 0 0.001855 0 0 NTF3 4908 broad.mit.edu 37 12 5603979 5603979 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:5603979C>A ENST00000423158.3 + 2 850 c.638C>A c.(637-639)cCg>cAg p.P213Q NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.P200Q NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 200 signal transduction extracellular region growth factor activity|neurotrophin receptor binding p.P200Q(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 GAAGCCAGGCCGGTCAAAAAC 0.483000 14 63 1.5739e-10 2.84097e-10 0.004007 1 0 MPPED1 758 broad.mit.edu 37 22 43821177 43821177 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr22:43821177C>A ENST00000417669.1 + 2 630 c.186C>A c.(184-186)aaC>aaA p.N62K MPPED1_ENST00000542779.1_Missense_Mutation_p.N62K|MPPED1_ENST00000443721.1_Missense_Mutation_p.N62K|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000538182.1_Missense_Mutation_p.N95K O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 62 hydrolase activity p.N62K(1) endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) CCTTCTACAACATCAACCAGG 0.662000 7 34 1.76689e-08 2.85905e-08 0.006214 1 0 RCAN3 11123 broad.mit.edu 37 1 24840900 24840900 + Missense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:24840900A>T ENST00000374395.4 + 2 351 c.38A>T c.(37-39)cAg>cTg p.Q13L RCAN3_ENST00000436717.2_Missense_Mutation_p.Q13L|RCAN3_ENST00000374393.2_Missense_Mutation_p.Q13L|RCAN3_ENST00000538532.1_Missense_Mutation_p.Q13L|RCAN3_ENST00000412742.2_Missense_Mutation_p.Q13L NM_001251978.1|NM_001251979.1|NM_001251984.1 NP_001238907.1|NP_001238908.1|NP_001238913.1 Q9UKA8 RCAN3_HUMAN RCAN family member 3 13 anatomical structure morphogenesis|calcium-mediated signaling nucleotide binding|RNA binding|troponin I binding p.Q13L(1) central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2) 7 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14) AATGATAGCCAGTCAGATCTG 0.428000 12 76 0 0 0.002450 0 0 RPL10L 140801 broad.mit.edu 37 14 47120853 47120853 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:47120853G>T ENST00000298283.3 - 1 175 c.87C>A c.(85-87)gcC>gcA p.A29A NM_080746.2 NP_542784.1 Q96L21 RL10L_HUMAN ribosomal protein L10-like 29 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome p.A29A(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1) 27 TGCGGATCTTGGCATCAGGAA 0.527000 18 148 4.75885e-15 9.5177e-15 0.004990 1 0 GPR142 350383 broad.mit.edu 37 17 72368403 72368403 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:72368403G>T ENST00000335666.4 + 4 1101 c.1053G>T c.(1051-1053)cgG>cgT p.R351R NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 351 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity p.R351R(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 TGCAGCCCCGGGTGGGCAAGA 0.632000 14 43 2.61681e-11 4.7927e-11 0.002450 1 0 HCRTR2 3062 broad.mit.edu 37 6 55113436 55113436 + Splice_Site SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:55113436G>A ENST00000370862.3 + 2 559 c.e2-1 NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 feeding behavior integral to plasma membrane neuropeptide receptor activity p.?(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TTTCAAATTAGTTTGTGTGGC 0.393000 18 95 0 0 0.007413 0 0 TRIML2 205860 broad.mit.edu 37 4 189012705 189012705 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:189012705C>G ENST00000512729.1 - 7 1360 c.986G>C c.(985-987)gGg>gCg p.G329A TRIML2_ENST00000326754.3_Missense_Mutation_p.G354A NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 329 B30.2/SPRY. ligase activity p.G329A(1) central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) TGATATCTGCCCGTGTTCGCA 0.507000 38 176 0 0 0.006999 0 0 SLC35A2 7355 broad.mit.edu 37 X 48762073 48762073 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:48762073C>A ENST00000445167.2 - 4 542 c.523G>T c.(523-525)Gca>Tca p.A175S SLC35A2_ENST00000376529.3_Missense_Mutation_p.A175S|SLC35A2_ENST00000376515.3_Missense_Mutation_p.A151S|SLC35A2_ENST00000376521.1_Silent_p.P371P|SLC35A2_ENST00000452555.2_Silent_p.P399P|SLC35A2_ENST00000247138.5_Silent_p.P371P|SLC35A2_ENST00000413561.2_Silent_p.P310P NM_001032289.1 NP_001027460.1 P78381 S35A2_HUMAN solute carrier family 35 (UDP-galactose transporter), member A2 0 galactose metabolic process Golgi membrane|integral to membrane|nucleus sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity p.A175S(1)|p.P371P(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2) 15 AAGACAGCTGCGGTGGTGGTG 0.652000 10 35 3.07112e-06 4.38731e-06 0.000978 1 0 SF3B3 23450 broad.mit.edu 37 16 70599102 70599102 + Silent SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:70599102C>T ENST00000302516.5 + 19 2809 c.2598C>T c.(2596-2598)atC>atT p.I866I NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 866 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding p.I866I(1) breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) CCTCTGTGATCCGAGTGATGA 0.542000 26 71 0 0 0.003330 0 0 USP51 158880 broad.mit.edu 37 X 55513306 55513306 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:55513306G>A ENST00000500968.3 - 2 2149 c.2067C>T c.(2065-2067)acC>acT p.T689T USP51_ENST00000586165.1_5'UTR NM_201286.3 NP_958443.1 Q70EK9 UBP51_HUMAN ubiquitin specific peptidase 51 689 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding p.T689T(1) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 AGTCCTCAATGGTAGCCTTGG 0.433000 16 81 0 0 0.003163 0 0 JPH2 57158 broad.mit.edu 37 20 42815287 42815287 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:42815287C>A ENST00000372980.3 - 1 931 c.59G>T c.(58-60)gGg>gTg p.G20V JPH2_ENST00000342272.3_Missense_Mutation_p.G20V NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 20 Gly-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane p.G20L(2) NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GGCCTTTCCCCCCTCCCAGCC 0.632000 13 32 4.3838e-07 6.62206e-07 0.001855 1 0 GUCY2F 2986 broad.mit.edu 37 X 108708604 108708604 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:108708604G>C ENST00000218006.2 - 3 1090 c.799C>G c.(799-801)Cat>Gat p.H267D NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 267 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity p.H267D(1) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 TTCAGATCATGAGCACATTCC 0.443000 32 177 0 0 0.003271 0 0 COL14A1 7373 broad.mit.edu 37 8 121381596 121381596 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr8:121381596G>T ENST00000297848.3 + 47 5453 c.5183G>T c.(5182-5184)aGc>aTc p.S1728I COL14A1_ENST00000247781.3_Missense_Mutation_p.S1633I|COL14A1_ENST00000309791.4_Missense_Mutation_p.S1728I NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1728 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging p.S1728I(1) NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CGGCCTGGCAGCCCTGGGCCC 0.582000 16 95 2.23348e-06 3.19983e-06 0.004007 1 0 FAM193A 8603 broad.mit.edu 37 4 2661632 2661632 + Silent SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:2661632A>T ENST00000324666.5 + 8 1074 c.723A>T c.(721-723)ccA>ccT p.P241P FAM193A_ENST00000502458.1_Silent_p.P265P|FAM193A_ENST00000382839.3_Silent_p.P241P|FAM193A_ENST00000545951.1_Silent_p.P241P|FAM193A_ENST00000505311.1_Silent_p.P241P NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 241 p.P241P(1) NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 ACCAGCTCCCACTTCAAGTGG 0.557000 21 87 0 0 0.001216 0 0 TFCP2 7024 broad.mit.edu 37 12 51495784 51495784 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:51495784C>G ENST00000307660.4 - 10 1652 c.932G>C c.(931-933)aGa>aCa p.R311T TFCP2_ENST00000549867.1_Intron|TFCP2_ENST00000257915.5_Missense_Mutation_p.R362T|TFCP2_ENST00000548115.1_Missense_Mutation_p.R311T NM_001173453.1 NP_001166924.1 Q12800 TFCP2_HUMAN transcription factor CP2 362 DNA-binding. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.R362T(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 23 CACATCATCTCTAGTTAATTT 0.323000 3 85 0 0 0.004672 0 0 PPL 5493 broad.mit.edu 37 16 4940293 4940293 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:4940293G>C ENST00000345988.2 - 18 2294 c.2205C>G c.(2203-2205)ttC>ttG p.F735L PPL_ENST00000590782.2_Missense_Mutation_p.F733L NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 735 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton p.F735L(1) breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 GGCCGCGGTGGAAGTGCTCGT 0.607000 6 50 0 0 0.001984 0 0 HOOK3 84376 broad.mit.edu 37 8 42823213 42823213 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr8:42823213G>T ENST00000307602.4 + 11 1178 c.978G>T c.(976-978)aaG>aaT p.K326N NM_032410.3 NP_115786.1 Q86VS8 HOOK3_HUMAN hook microtubule-tethering protein 3 326 cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding p.K326N(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 31 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) ATAAAAAGAAGCTAGAAGACC 0.338000 T RET papillary thyroid 28 57 2.65835e-16 5.56139e-16 0.007291 1 0 PCDH18 54510 broad.mit.edu 37 4 138453002 138453002 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:138453002C>A ENST00000344876.4 - 1 627 c.241G>T c.(241-243)Gag>Tag p.E81* PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Nonsense_Mutation_p.E81*|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 81 Cadherin 1. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.E81*(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) CCATTATCCTCGTTTACTACA 0.428000 25 153 4.26978e-12 7.966e-12 0.003330 1 0 ASB11 140456 broad.mit.edu 37 X 15306059 15306059 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:15306059G>T ENST00000537676.1 - 6 800 c.728C>A c.(727-729)gCg>gAg p.A243E ASB11_ENST00000380470.3_Missense_Mutation_p.A247E|ASB11_ENST00000480796.1_Missense_Mutation_p.A264E|ASB11_ENST00000344384.4_Missense_Mutation_p.A243E Q8WXH4 ASB11_HUMAN ankyrin repeat and SOCS box containing 11 264 intracellular signal transduction p.A264E(2)|p.A243E(1) breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1) 16 Hepatocellular(33;0.183) CAGATCAAGCGCACTTTTGCC 0.542000 18 68 7.07596e-05 9.45984e-05 0.006122 1 0 DNAH10 196385 broad.mit.edu 37 12 124362333 124362333 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:124362333G>T ENST00000409039.3 + 47 7921 c.7896G>T c.(7894-7896)acG>acT p.T2632T NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2632 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.T1224T(1)|p.T2632T(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CATTCTGCACGCTAGCACTTT 0.453000 18 111 6.49762e-13 1.24954e-12 0.006122 1 0 CYYR1 116159 broad.mit.edu 37 21 27945291 27945291 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr21:27945291G>A ENST00000435845.2 - 1 312 c.293C>T c.(292-294)cCc>cTc p.P98L CYYR1_ENST00000400043.3_5'UTR|CYYR1_ENST00000299340.4_5'UTR Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 139 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 TGGAGCGAAGGGAGAGCCCGG 0.642000 9 34 0 0 0.000978 0 0 ASTN1 460 broad.mit.edu 37 1 176915238 176915238 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:176915238C>A ENST00000367654.2 - 13 2110 c.2097G>T c.(2095-2097)aaG>aaT p.K699N ASTN1_ENST00000367657.3_Missense_Mutation_p.K691N|ASTN1_ENST00000361833.2_Missense_Mutation_p.K691N|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.K691N O14525 ASTN1_HUMAN astrotactin 1 699 EGF-like 3. cell migration|neuron cell-cell adhesion integral to membrane p.K691N(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CCACACCAAGCTTGTAGTCCT 0.517000 20 97 0.00121646 0.00152439 0.001216 1 0 PCDHGA5 56110 broad.mit.edu 37 5 140744069 140744069 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:140744069G>T ENST00000518069.1 + 1 172 c.172G>T c.(172-174)Gag>Tag p.E58* PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 p.E58*(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGCCCCAGGAGCTGGCGGA 0.647000 9 99 0.000978159 0.00123194 0.000978 1 0 KIF16B 55614 broad.mit.edu 37 20 16352333 16352333 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:16352333T>A ENST00000354981.2 - 21 3581 c.3424A>T c.(3424-3426)Agt>Tgt p.S1142C KIF16B_ENST00000378003.2_Missense_Mutation_p.S368C|KIF16B_ENST00000355755.3_Missense_Mutation_p.S1142C|KIF16B_ENST00000408042.1_Missense_Mutation_p.S1142C NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 1142 cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity p.S1142C(2) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 GCAGATGTACTGCAGCCTTCA 0.388000 26 61 0 0 0.006320 0 0 KIF15 56992 broad.mit.edu 37 3 44867888 44867888 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:44867888G>T ENST00000326047.4 + 22 2871 c.2722G>T c.(2722-2724)Gca>Tca p.A908S KIF15_ENST00000425755.1_Missense_Mutation_p.A543S NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 908 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity p.A908S(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) GCTTCTTGAGGCAGAAAAAGA 0.318000 8 46 7.48243e-07 1.11015e-06 0.006214 1 0 NEB 4703 broad.mit.edu 37 2 152487674 152487674 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:152487674C>A ENST00000397345.3 - 66 9803 c.9601G>T c.(9601-9603)Gct>Tct p.A3201S NEB_ENST00000603639.1_Missense_Mutation_p.A3201S|NEB_ENST00000604864.1_Missense_Mutation_p.A3201S|NEB_ENST00000172853.10_Intron|NEB_ENST00000427231.2_Missense_Mutation_p.A3201S|NEB_ENST00000409198.1_Missense_Mutation_p.A2958S NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 3201 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle p.A3201S(1) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ATGTTGAGAGCATTGTTCTTG 0.418000 51 280 6.3237e-29 1.50564e-28 0.003610 1 0 ZFC3H1 196441 broad.mit.edu 37 12 72056983 72056983 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:72056983C>A ENST00000378743.3 - 1 766 c.408G>T c.(406-408)cgG>cgT p.R136R ZFC3H1_ENST00000552037.1_Silent_p.R136R|ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000548100.1_Silent_p.R136R|THAP2_ENST00000308086.2_5'UTR NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 136 RNA processing intracellular metal ion binding p.R136R(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CGAGGTGGCTCCGCTCCCAGA 0.647000 12 86 0.00010058 0.000133042 0.001368 1 0 HS6ST2 90161 broad.mit.edu 37 X 131803196 131803196 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:131803196C>A ENST00000521489.1 - 5 1427 c.1012G>T c.(1012-1014)Gca>Tca p.A338S HS6ST2-AS1_ENST00000455269.1_RNA|HS6ST2_ENST00000370836.2_Intron|HS6ST2_ENST00000406696.3_Intron|HS6ST2_ENST00000370837.1_Intron|HS6ST2_ENST00000370833.2_Missense_Mutation_p.A192S NM_001077188.1 NP_001070656.1 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 316 integral to membrane sulfotransferase activity p.A338S(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2) 9 Acute lymphoblastic leukemia(192;0.000127) TTGGCGCCTGCGTTAGTGTTT 0.428000 9 64 0.00621372 0.00759623 0.006214 1 0 NAV2 89797 broad.mit.edu 37 11 19735466 19735466 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:19735466G>T ENST00000396085.1 + 1 586 c.225G>T c.(223-225)ccG>ccT p.P75P NAV2_ENST00000349880.4_Silent_p.P75P|NAV2_ENST00000396087.3_Silent_p.P75P|NAV2_ENST00000360655.4_Intron NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 75 nucleus ATP binding|helicase activity p.P75P(1) NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 AGGGGCTCCCGCTGCGGAAGA 0.602000 10 48 2.74318e-10 4.82954e-10 0.006214 1 0 ORAI2 80228 broad.mit.edu 37 7 102079390 102079390 + Splice_Site SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:102079390G>T ENST00000356387.2 + 3 222 c.e3-1 ORAI2_ENST00000403646.3_Splice_Site|ORAI2_ENST00000488996.1_Intron|ORAI2_ENST00000478730.1_Splice_Site|ORAI2_ENST00000473939.1_Splice_Site NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 integral to membrane protein binding autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 CCCACCCTTAGCCTGGCTCCC 0.582000 23 106 1.5548e-18 3.40965e-18 0.005443 1 0 POT1 25913 broad.mit.edu 37 7 124475445 124475445 + Nonsense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:124475445T>A ENST00000357628.3 - 15 1991 c.1393A>T c.(1393-1395)Aaa>Taa p.K465* POT1_ENST00000393329.1_Nonsense_Mutation_p.K334* NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 465 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity p.K465*(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 TTCGAGAGTTTGCAAATTTCA 0.363000 21 74 0 0 0.002299 0 0 GBA3 57733 broad.mit.edu 37 4 22729405 22729405 + RNA SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:22729405C>A ENST00000508166.1 + 0 160 GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA NM_020973.4 NP_066024.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CCTGCAGTATCAAAAAGTCCA 0.393000 52 212 1.81118e-26 4.27166e-26 0.003610 1 0 FBXL13 222235 broad.mit.edu 37 7 102517943 102517943 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:102517943C>A ENST00000393772.2 - 16 2032 c.1606G>T c.(1606-1608)Gat>Tat p.D536Y FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.D536Y|FBXL13_ENST00000436908.1_Missense_Mutation_p.D536Y|FBXL13_ENST00000313221.4_Missense_Mutation_p.D536Y|FBXL13_ENST00000379305.3_Missense_Mutation_p.D536Y|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Missense_Mutation_p.D536Y Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 536 p.D536Y(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 CCAGAGAGATCTATTGATACC 0.294000 15 69 1.02788e-11 1.89646e-11 0.004990 1 0 TFAP2D 83741 broad.mit.edu 37 6 50696931 50696931 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:50696931C>A ENST00000008391.3 + 5 1017 c.789C>A c.(787-789)cgC>cgA p.R263R TFAP2D_ENST00000492804.1_3'UTR NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 263 DNA binding|sequence-specific DNA binding transcription factor activity p.R263P(1) NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) ATGGGGGCCGCTGCCTGAGAG 0.413000 24 147 1.1804e-14 2.35139e-14 0.003954 1 0 CBX6 23466 broad.mit.edu 37 22 39262426 39262426 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr22:39262426C>A ENST00000407418.3 - 5 1150 c.1027G>T c.(1027-1029)Gcc>Tcc p.A343S CBX6_ENST00000216083.6_Missense_Mutation_p.A325S O95503 CBX6_HUMAN chromobox homolog 6 343 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex p.A343S(1) large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 Melanoma(58;0.04) GGCTCAGGGGCCGTGGGAGGT 0.716000 7 29 8.12818e-05 0.000108376 0.001984 1 0 CNOT3 4849 broad.mit.edu 37 19 54647235 54647235 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:54647235G>A ENST00000406403.1 + 3 1754 c.151G>A c.(151-153)Gag>Aag p.E51K CNOT3_ENST00000221232.5_Missense_Mutation_p.E51K|CNOT3_ENST00000358389.3_5'UTR O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 51 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding p.E51K(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTAAAGAAGGAGATTAAGAA 0.552000 18 77 0 0 0.007413 0 0 TRABD2A 129293 broad.mit.edu 37 2 85051250 85051250 + Silent SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:85051250C>T ENST00000335459.5 - 5 1219 c.1014G>A c.(1012-1014)ccG>ccA p.P338P TRABD2A_ENST00000409520.2_Silent_p.P387P|TRABD2A_ENST00000479944.1_5'UTR NM_001080824.1 NP_001074293.1 TraB domain containing 2A p.P387P(1)|p.P338P(1) CTTCTGGTGCCGGTACTTCCA 0.587000 7 27 0 0 0.004482 0 0 SNAI1 6615 broad.mit.edu 37 20 48600678 48600678 + Nonsense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:48600678C>T ENST00000244050.2 + 2 461 c.400C>T c.(400-402)Caa>Taa p.Q134* NM_005985.3 NP_005976.2 O95863 SNAI1_HUMAN snail family zinc finger 1 134 Required for FBXL14-triggered degradation. epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|zinc ion binding p.Q134*(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2) 17 BRCA - Breast invasive adenocarcinoma(9;4.03e-06) AGGCTTGGGCCAAGTGCCCAA 0.607000 23 74 0 0 0.001882 0 0 WDR70 55100 broad.mit.edu 37 5 37703125 37703125 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:37703125G>A ENST00000265107.4 + 13 1508 c.1352G>A c.(1351-1353)gGc>gAc p.G451D NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 451 central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGTGGCAGCGGCAAACTTGTT 0.413000 8 806 0 0 0.003080 0 0 PDK4 5166 broad.mit.edu 37 7 95216781 95216781 + Silent SNP T T C rs148379762 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:95216781T>C ENST00000005178.5 - 9 1127 c.930A>G c.(928-930)acA>acG p.T310T NM_002612.3 NP_002603.1 Q16654 PDK4_HUMAN pyruvate dehydrogenase kinase, isozyme 4 310 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity p.T310T(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) CAGTGGAGTATGTATAACTAA 0.393000 23 83 0 0 0.003330 0 0 EPHA8 2046 broad.mit.edu 37 1 22920043 22920043 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:22920043C>A ENST00000166244.3 + 7 1539 c.1467C>A c.(1465-1467)acC>acA p.T489T NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 489 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity p.T489T(1) breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GCTACTCCACCCTCAAGGCCG 0.697000 7 23 2.7689e-08 4.46596e-08 0.001984 1 0 SMARCA1 6594 broad.mit.edu 37 X 128657272 128657272 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:128657272C>A ENST00000371122.4 - 1 205 c.76G>T c.(76-78)Gac>Tac p.D26Y SMARCA1_ENST00000371123.1_Missense_Mutation_p.D26Y|SMARCA1_ENST00000371121.3_Missense_Mutation_p.D26Y NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 26 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding p.D26Y(1) biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 GGCTGCTCGTCCTCTATGACC 0.697000 14 61 2.31682e-05 3.16506e-05 0.003163 1 0 GREB1 9687 broad.mit.edu 37 2 11732998 11732998 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:11732998C>T ENST00000381486.2 + 11 1742 c.1442C>T c.(1441-1443)gCg>gTg p.A481V GREB1_ENST00000234142.5_Missense_Mutation_p.A481V NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 481 integral to membrane p.A481V(1) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TACCAGCAGGCGCCGCCGCAG 0.731000 4 14 0 0 0.000602 0 0 ZNF133 7692 broad.mit.edu 37 20 18297153 18297153 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:18297153G>T ENST00000377671.3 + 7 2214 c.1655G>T c.(1654-1656)aGg>aTg p.R552M ZNF133_ENST00000535822.1_Missense_Mutation_p.R458M|ZNF133_ENST00000402618.2_Missense_Mutation_p.R490M|ZNF133_ENST00000538547.1_Missense_Mutation_p.R458M|ZNF133_ENST00000401790.1_Missense_Mutation_p.R553M|ZNF133_ENST00000316358.4_Missense_Mutation_p.R553M|ZNF133_ENST00000396026.3_Missense_Mutation_p.R556M|ZNF133_ENST00000462170.1_3'UTR NM_001083330.1|NM_003434.4 NP_001076799.1|NP_003425.2 P52736 ZN133_HUMAN zinc finger protein 133 553 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R552M(1) autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 TACATGTGCAGGCAGTGTGGA 0.582000 11 73 0.00010058 0.000133042 0.001368 1 0 SAGE1 55511 broad.mit.edu 37 X 134983834 134983834 + Nonsense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:134983834G>A ENST00000535938.1 + 3 371 c.204G>A c.(202-204)tgG>tgA p.W68* SAGE1_ENST00000370709.3_Nonsense_Mutation_p.W68*|SAGE1_ENST00000537770.1_Nonsense_Mutation_p.W68*|SAGE1_ENST00000324447.3_Nonsense_Mutation_p.W68* NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 68 p.W68*(1) breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) TGTCCTCGTGGTTAGACAAAC 0.428000 65 298 0 0 0.003610 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 4 72 0 0 0.001168 0 0 CACNA1D 776 broad.mit.edu 37 3 53752403 53752403 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:53752403G>T ENST00000288139.3 + 10 1584 c.1466G>T c.(1465-1467)tGt>tTt p.C489F CACNA1D_ENST00000350061.5_Missense_Mutation_p.C489F|CACNA1D_ENST00000422281.2_Missense_Mutation_p.C489F NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 489 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity p.C489F(1) breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CGAGGCTGCTGTGGAAGTCTC 0.597000 4 50 0.00024832 0.000321658 0.000248 1 0 LRP1B 53353 broad.mit.edu 37 2 141093256 141093256 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:141093256C>T ENST00000389484.3 - 78 13015 c.12044G>A c.(12043-12045)gGc>gAc p.G4015D NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4015 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.G4015D(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GCAGTTGGGGCCATTCAGCTG 0.418000 TSP Lung(27;0.18) 51 149 0 0 0.003610 0 0 BRINP3 339479 broad.mit.edu 37 1 190068080 190068080 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:190068080G>C ENST00000367462.3 - 8 1600 c.1369C>G c.(1369-1371)Cgc>Ggc p.R457G FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R355G NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 457 extracellular region p.R457G(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) CAGCGGGTGCGGTTGTCTGGT 0.622000 24 113 0 0 0.002299 0 0 BSN 8927 broad.mit.edu 37 3 49694474 49694474 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:49694474G>A ENST00000296452.4 + 5 7599 c.7485G>A c.(7483-7485)ttG>ttA p.L2495L NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2495 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding p.L2495L(1) 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) CTGCTGAGTTGGCCCAGAATG 0.637000 8 32 0 0 0.003080 0 0 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C A rs28934575 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:7577548C>A ENST00000420246.2 - 7 865 c.733G>T c.(733-735)Ggc>Tgc p.G245C TP53_ENST00000413465.2_Missense_Mutation_p.G245C|TP53_ENST00000359597.4_Missense_Mutation_p.G245C|TP53_ENST00000455263.2_Missense_Mutation_p.G245C|TP53_ENST00000269305.4_Missense_Mutation_p.G245C|TP53_ENST00000445888.2_Missense_Mutation_p.G245C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 245 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGTTCATGCCGCCCATGCAG 0.577000 G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 38 63 2.75727e-19 6.15463e-19 0.004878 1 0 SIRPA 140885 broad.mit.edu 37 20 1895886 1895886 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:1895886C>A ENST00000358771.4 + 2 373 c.221C>A c.(220-222)cCa>cAa p.P74Q SIRPA_ENST00000400068.3_Missense_Mutation_p.P74Q|SIRPA_ENST00000356025.3_Missense_Mutation_p.P74Q NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 74 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding p.P74Q(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GGAGCTGGACCAGGCCGGGAA 0.537000 20 100 1.55795e-14 3.07894e-14 0.001882 1 0 SLC1A3 6507 broad.mit.edu 37 5 36608599 36608599 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:36608599G>A ENST00000265113.4 + 2 550 c.74G>A c.(73-75)cGc>cAc p.R25H SLC1A3_ENST00000506725.1_3'UTR|SLC1A3_ENST00000381918.3_Missense_Mutation_p.R25H NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 25 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity p.R25H(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) GTCCGTAAACGCACACTTTTG 0.463000 21 1560 0 0 0.001855 0 0 FAM83G 644815 broad.mit.edu 37 17 18907267 18907267 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:18907267C>T ENST00000388995.6 - 2 311 c.88G>A c.(88-90)Gag>Aag p.E30K SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.E30K|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.E30K|SLC5A10_ENST00000395643.2_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 30 p.E30K(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 AGCCGCTGCTCCTCGCTGTAG 0.652000 18 46 0 0 0.004990 0 0 LRP6 4040 broad.mit.edu 37 12 12311984 12311984 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:12311984C>A ENST00000261349.4 - 12 2646 c.2570G>T c.(2569-2571)cGt>cTt p.R857L LRP6_ENST00000543091.1_Missense_Mutation_p.R857L NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 857 Beta-propeller 3. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding p.R857L(1)|p.R857H(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) TTTGTTGGCACGCTCAATGCT 0.488000 14 72 1.3612e-06 1.97849e-06 0.003163 1 0 PRAMEF6 440561 broad.mit.edu 37 1 13001343 13001343 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:13001343T>C ENST00000376189.1 - 3 439 c.340A>G c.(340-342)Atg>Gtg p.M114V PRAMEF6_ENST00000415464.2_Missense_Mutation_p.M114V|PRAMEF6_ENST00000376192.5_Intron NM_001010889.2 NP_001010889.1 Q5VXH4 PRAM6_HUMAN PRAME family member 6 114 p.M114V(1) NS(1)|kidney(1)|lung(5)|urinary_tract(2) 9 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GACCAAACCATCCAGAAGTTC 0.483000 39 561 0 0 0.003610 0 0 SOCS6 9306 broad.mit.edu 37 18 67992886 67992886 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr18:67992886G>T ENST00000397942.3 + 2 1298 c.982G>T c.(982-984)Gga>Tga p.G328* SOCS6_ENST00000582322.1_Nonsense_Mutation_p.G328* NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 328 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm p.G328*(1) NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) GAACTTCAGTGGACTCACTGG 0.493000 12 53 6.40141e-05 8.58098e-05 0.000978 1 0 PCDHB7 56129 broad.mit.edu 37 5 140553068 140553068 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:140553068G>T ENST00000231137.3 + 1 826 c.652G>T c.(652-654)Ggc>Tgc p.G218C NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 218 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G218S(1)|p.G218C(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTAGACGGCGGCTCTCCTCC 0.537000 11 58 2.27111e-07 3.53756e-07 0.001368 1 0 AMER1 139285 broad.mit.edu 37 X 63410828 63410828 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:63410828C>A ENST00000330258.3 - 2 2611 c.2339G>T c.(2338-2340)gGg>gTg p.G780V AMER1_ENST00000403336.1_Missense_Mutation_p.G780V|AMER1_ENST00000374869.3_Missense_Mutation_p.G780V NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67)|p.G780V(2) AAAGAGGTTCCCATTGCTGGT 0.512000 11 35 2.80697e-09 4.67829e-09 0.000978 1 0 IRS4 8471 broad.mit.edu 37 X 107977841 107977841 + Missense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:107977841A>T ENST00000372129.2 - 1 1810 c.1734T>A c.(1732-1734)gaT>gaA p.D578E NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 578 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity p.D578E(1) NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 AGCCATGGCCATCTCCAGGTC 0.612000 61 277 0 0 0.003610 0 0 OBSL1 23363 broad.mit.edu 37 2 220422763 220422763 + Missense_Mutation SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:220422763A>G ENST00000404537.1 - 11 3628 c.3572T>C c.(3571-3573)gTg>gCg p.V1191A OBSL1_ENST00000373876.1_Missense_Mutation_p.V1191A|OBSL1_ENST00000603926.1_Missense_Mutation_p.V1191A|OBSL1_ENST00000265318.4_Missense_Mutation_p.V1099A|OBSL1_ENST00000265317.5_Missense_Mutation_p.V182A NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 1191 Ig-like 10. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity p.V1191A(1) Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) GCTCAGCACCACTGGCTCCCC 0.647000 5 36 0 0 0.000602 0 0 JPH2 57158 broad.mit.edu 37 20 42815288 42815288 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:42815288C>A ENST00000372980.3 - 1 930 c.58G>T c.(58-60)Ggg>Tgg p.G20W JPH2_ENST00000342272.3_Missense_Mutation_p.G20W NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 20 Gly-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane p.G20L(2) NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GCCTTTCCCCCCTCCCAGCCC 0.627000 13 32 7.93312e-07 1.16664e-06 0.002450 1 0 FAM45A 404636 broad.mit.edu 37 10 120877099 120877099 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr10:120877099T>A ENST00000361432.2 + 4 427 c.401T>A c.(400-402)aTa>aAa p.I134K FAM45A_ENST00000535029.1_Missense_Mutation_p.I134K|FAM45A_ENST00000544016.1_Intron|FAM45A_ENST00000489988.1_3'UTR NM_207009.2 NP_996892.1 Q8TCE6 FA45A_HUMAN family with sequence similarity 45, member A 134 p.I134K(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 14 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0293) ACAAAGGGGATATGCCAGAGT 0.433000 26 137 0 0 0.004656 0 0 LECT1 11061 broad.mit.edu 37 13 53286963 53286963 + Silent SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr13:53286963A>T ENST00000448904.2 - 5 620 c.510T>A c.(508-510)ctT>ctA p.L170L LECT1_ENST00000377962.3_Silent_p.L170L NM_001011705.1|NM_007015.2 NP_001011705.1|NP_008946.1 O75829 LECT1_HUMAN leukocyte cell derived chemotaxin 1 170 BRICHOS. cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane p.L170L(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) CCACCCAGATAAGAGAATTTT 0.398000 30 94 0 0 0.001512 0 0 PLCB2 5330 broad.mit.edu 37 15 40586546 40586546 + Missense_Mutation SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr15:40586546A>G ENST00000260402.3 - 19 2231 c.1982T>C c.(1981-1983)aTg>aCg p.M661T PLCB2_ENST00000557821.1_Missense_Mutation_p.M657T|PLCB2_ENST00000456256.2_Missense_Mutation_p.M661T NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 661 PI-PLC Y-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.M657T(1)|p.M661T(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) CGGCCGGCGCATGAACTCATG 0.582000 15 56 0 0 0.002450 0 0 CYBB 1536 broad.mit.edu 37 X 37655268 37655268 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:37655268C>A ENST00000378588.4 + 6 615 c.548C>A c.(547-549)aCg>aAg p.T183K CYBB_ENST00000536160.1_Intron|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.T151K NM_000397.3 NP_000388.2 P04839 CY24B_HUMAN cytochrome b-245, beta polypeptide 183 Ferric oxidoreductase. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity p.T183K(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2) 32 GTTGTCATCACGCTGTGCCTC 0.453000 13 71 9.31168e-06 1.30782e-05 0.001855 1 0 MYOF 26509 broad.mit.edu 37 10 95066741 95066741 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr10:95066741C>A ENST00000371501.4 - 54 6287 c.6165G>T c.(6163-6165)aaG>aaT p.K2055N MYOF_ENST00000359263.4_Missense_Mutation_p.K2055N|MYOF_ENST00000371502.4_Missense_Mutation_p.K2045N|MYOF_ENST00000358334.5_Missense_Mutation_p.K2042N Q9NZM1 MYOF_HUMAN myoferlin 2055 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding p.K2055N(1) NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GCTTTACAATCTTCATTGACA 0.348000 25 135 1.42536e-11 2.62014e-11 0.004656 1 0 CXorf56 63932 broad.mit.edu 37 X 118675326 118675326 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:118675326G>C ENST00000320339.4 - 6 695 c.424C>G c.(424-426)Cgc>Ggc p.R142G CXorf56_ENST00000476164.1_Missense_Mutation_p.R191G|CXorf56_ENST00000536133.1_Missense_Mutation_p.R177G|CXorf56_ENST00000486230.1_Missense_Mutation_p.R191G|CXorf56_ENST00000469448.1_5'UTR|CXorf56_ENST00000371594.4_Missense_Mutation_p.R191G NM_001170569.1 NP_001164040.1 Q9H5V9 CX056_HUMAN chromosome X open reading frame 56 191 protein binding p.R191G(1) cervix(1)|endometrium(2)|lung(7) 10 ATGCCTTTGCGCTCCAGCTGT 0.493000 57 216 0 0 0.003610 0 0 ZNF397 84307 broad.mit.edu 37 18 32822650 32822650 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr18:32822650G>C ENST00000330501.7 + 2 369 c.216G>C c.(214-216)caG>caC p.Q72H ZNF397_ENST00000591206.1_Missense_Mutation_p.Q72H|ZNF397_ENST00000355632.4_Missense_Mutation_p.Q72H|ZNF397_ENST00000585800.1_Missense_Mutation_p.Q72H|ZNF397_ENST00000592264.1_Missense_Mutation_p.Q72H|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000261333.6_Missense_Mutation_p.Q72H NM_001135178.2 NP_001128650.1 Q8NF99 ZN397_HUMAN zinc finger protein 397 72 SCAN box. viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Q72H(2) breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1) 12 GCCGACTCCAGGAACTTTGCT 0.512000 13 71 0 0 0.001855 0 0 GPRC6A 222545 broad.mit.edu 37 6 117130516 117130516 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:117130516C>A ENST00000310357.3 - 2 480 c.459G>T c.(457-459)atG>atT p.M153I GPRC6A_ENST00000368549.3_Missense_Mutation_p.M153I|GPRC6A_ENST00000530250.1_Missense_Mutation_p.M153I NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 153 response to amino acid stimulus G-protein coupled receptor activity p.M153I(1) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TGGAGACAGCCATAGTTATTT 0.413000 18 122 6.44725e-10 1.11544e-09 0.002299 1 0 LINC00969 440993 broad.mit.edu 37 3 195404651 195404651 + RNA SNP C C G rs1996904 by1000genomes TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:195404651C>G ENST00000445430.1 + 0 1508 TGTCACGAATCTTGACAAATT 0.418000 3 111 0 0 0.000248 0 0 PODN 127435 broad.mit.edu 37 1 53542969 53542969 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:53542969G>T ENST00000371500.3 + 8 1117 c.776G>T c.(775-777)cGc>cTc p.R259L PODN_ENST00000395871.2_Intron|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000312553.5_Missense_Mutation_p.R278L NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 230 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding p.R278L(1)|p.R278H(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AACTTCCTGCGCCACGTGCCC 0.637000 27 147 8.24728e-16 1.69697e-15 0.004656 1 0 INADL 10207 broad.mit.edu 37 1 62626589 62626589 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:62626589G>T ENST00000371158.2 + 43 5502 c.5388G>T c.(5386-5388)ctG>ctT p.L1796L NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1796 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding p.L1796L(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 GGGAGCAGCTGCAGATGACGG 0.408000 16 66 1.67942e-08 2.72632e-08 0.006122 1 0 KIF2B 84643 broad.mit.edu 37 17 51901012 51901012 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:51901012G>T ENST00000268919.4 + 1 774 c.618G>T c.(616-618)ctG>ctT p.L206L NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 206 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.L206L(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TCTCAGTCCTGGAGCCCCCGC 0.552000 10 64 1.58986e-06 2.29749e-06 0.000673 1 0 TSR2 90121 broad.mit.edu 37 X 54466893 54466893 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:54466893G>T ENST00000375151.4 + 1 60 c.39G>T c.(37-39)cgG>cgT p.R13R NM_058163.1 NP_477511.1 Q969E8 TSR2_HUMAN TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) 13 rRNA processing protein binding p.R13R(1) breast(1)|endometrium(3)|lung(2) 6 CTCTTTTCCGGGCTGGGGTCT 0.697000 4 16 0.00024832 0.000321658 0.000248 1 0 PI16 221476 broad.mit.edu 37 6 36930861 36930861 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:36930861T>A ENST00000373674.3 + 5 1071 c.743T>A c.(742-744)gTc>gAc p.V248D PI16_ENST00000491324.1_Intron NM_001199159.1|NM_153370.2 NP_001186088.1|NP_699201.2 Q6UXB8 PI16_HUMAN peptidase inhibitor 16 248 extracellular region|integral to membrane peptidase inhibitor activity p.V248D(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GTAACAGAGGTCTCAGGCTCC 0.577000 22 131 0 0 0.002299 0 0 ADAM9 8754 broad.mit.edu 37 8 38948862 38948862 + Silent SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr8:38948862A>G ENST00000487273.2 + 20 2373 c.2295A>G c.(2293-2295)gaA>gaG p.E765E NM_003816.2 NP_003807.1 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 765 Missing (in Ref. 2; no nucleotide entry). 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 p.E765E(1) 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) CTCCCAGAGAAGTTGTAAGTA 0.348000 19 153 0 0 0.006122 0 0 FAM194A 131831 broad.mit.edu 37 3 150421307 150421307 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:150421307G>C ENST00000295910.6 - 1 431 c.379C>G c.(379-381)Ccc>Gcc p.P127A FAM194A_ENST00000491361.1_Intron NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 127 p.P127A(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GTGCTGGAGGGTGGGCTTGCG 0.667000 7 55 0 0 0.001984 0 0 ANO3 63982 broad.mit.edu 37 11 26664731 26664731 + Silent SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:26664731T>C ENST00000256737.3 + 23 3130 c.2278T>C c.(2278-2280)Ttg>Ctg p.L760L ANO3_ENST00000537978.1_Silent_p.L744L|ANO3_ENST00000531568.1_Silent_p.L614L|ANO3_ENST00000525139.1_Silent_p.L744L NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 760 chloride channel complex chloride channel activity p.L760L(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 TTTTGCAGTTTTGCAATTTGG 0.343000 24 86 0 0 0.003954 0 0 XIST 7503 broad.mit.edu 37 X 73064562 73064562 + RNA SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:73064562T>C ENST00000429829.1 - 0 8026 NR_001564.2 GCCAGGAAAATGGGCCTTGGT 0.463000 18 98 0 0 0.007413 0 0 KCNH5 27133 broad.mit.edu 37 14 63447817 63447817 + Nonsense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:63447817T>A ENST00000322893.7 - 6 983 c.715A>T c.(715-717)Aaa>Taa p.K239* KCNH5_ENST00000420622.2_Nonsense_Mutation_p.K239*|KCNH5_ENST00000394964.2_Nonsense_Mutation_p.K181*|KCNH5_ENST00000394968.1_Nonsense_Mutation_p.K181* NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 239 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity p.K181*(1)|p.K239*(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TGCTTTGTTTTGAAGGAAACA 0.368000 7 48 0 0 0.001984 0 0 MED15 51586 broad.mit.edu 37 22 20922826 20922826 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr22:20922826G>T ENST00000263205.7 + 8 1129 c.1060G>T c.(1060-1062)Gtg>Ttg p.V354L MED15_ENST00000292733.7_Missense_Mutation_p.V354L|MED15_ENST00000406969.1_Missense_Mutation_p.V328L|MED15_ENST00000425759.2_Missense_Mutation_p.V243L|MED15_ENST00000382974.2_Missense_Mutation_p.V283L|MED15_ENST00000542773.1_Missense_Mutation_p.159_159insL|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000541476.1_Missense_Mutation_p.V328L NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 354 Pro-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding p.V354L(2) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) TCCGATGGTGGTGCAGCAGCC 0.597000 4 27 1.23904e-05 1.75985e-05 0.000602 1 0 FAM19A1 407738 broad.mit.edu 37 3 68055839 68055839 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr3:68055839C>A ENST00000478136.1 + 2 560 c.70C>A c.(70-72)Cat>Aat p.H24N FAM19A1_ENST00000496687.1_Missense_Mutation_p.H24N NM_213609.3 NP_998774.2 Q7Z5A9 F19A1_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 24 endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 7 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) GCTACTCTGCCATGGATCCCT 0.502000 16 141 2.23348e-06 3.28043e-06 0.004007 1 0 FOLH1 2346 broad.mit.edu 37 11 49175441 49175441 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr11:49175441C>A ENST00000340334.7 - 18 2250 c.1882G>T c.(1882-1884)Gct>Tct p.A628S FOLH1_ENST00000343844.4_Missense_Mutation_p.A335S|FOLH1_ENST00000256999.2_Missense_Mutation_p.A643S|FOLH1_ENST00000533034.1_Missense_Mutation_p.A628S|FOLH1_ENST00000356696.3_Missense_Mutation_p.A643S NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 643 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity p.A643S(2) NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) AACTTGGAAGCAATTTCTGTA 0.313000 10 66 7.48243e-07 1.13777e-06 0.006214 1 0 ZNF385D 79750 broad.mit.edu 37 3 21606170 21606170 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr3:21606170G>T ENST00000281523.2 - 3 690 c.172C>A c.(172-174)Ccg>Acg p.P58T ZNF385D_ENST00000494118.1_5'UTR|ZNF385D-AS1_ENST00000412369.1_RNA NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 58 nucleus nucleic acid binding|zinc ion binding p.P58T(1) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 TTCTGAATCGGGTCCATCTGT 0.358000 13 57 4.3838e-07 6.7857e-07 0.001855 1 0 ARSI 340075 broad.mit.edu 37 5 149676935 149676935 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr5:149676935C>A ENST00000328668.7 - 2 2131 c.1552G>T c.(1552-1554)Ggt>Tgt p.G518C NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 518 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding p.G518C(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCCAAGCACCCCCATTAAAG 0.607000 17 120 3.32936e-07 5.23185e-07 0.006122 1 0 PABPC5 140886 broad.mit.edu 37 X 90690795 90690795 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:90690795G>C ENST00000312600.3 + 2 433 c.219G>C c.(217-219)gaG>gaC p.E73D PABPC5_ENST00000373105.1_Intron NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 73 RRM 1. cytoplasm nucleotide binding|RNA binding p.E73D(1) central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 CGGATGCAGAGTGGGCCTTGA 0.532000 7 37 0 0 0.001984 0 0 SF3B1 23451 broad.mit.edu 37 2 198265462 198265462 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:198265462C>A ENST00000335508.5 - 18 2786 c.2695G>T c.(2695-2697)Gct>Tct p.A899S NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 899 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding p.A899S(1) NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) TCTTGGAAAGCATAAAGAATA 0.313000 Mis myelodysplastic syndrome 11 78 4.36969e-10 7.81706e-10 0.001855 1 0 HELLS 3070 broad.mit.edu 37 10 96333850 96333850 + Missense_Mutation SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr10:96333850A>G ENST00000348459.5 + 8 716 c.611A>G c.(610-612)aAg>aGg p.K204R HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.K204R|HELLS_ENST00000394044.1_Missense_Mutation_p.K204R|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000371332.4_Missense_Mutation_p.K204R NM_018063.3 NP_060533.2 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 204 cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity p.K204R(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) CCAGTCCGGAAGTGTAATGGT 0.393000 32 170 0 0 0.002836 0 0 ATP5G3 518 broad.mit.edu 37 2 176043042 176043042 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:176043042C>G ENST00000284727.4 - 5 3427 c.403G>C c.(403-405)Gct>Cct p.A135P ATP5G3_ENST00000409194.1_Missense_Mutation_p.A135P|ATP5G3_ENST00000392541.3_Missense_Mutation_p.A135P NM_001002258.4|NM_001689.4 NP_001002258.1|NP_001680.1 P48201 AT5G3_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9) 135 ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|lipid binding|protein binding p.A135P(1) large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.147) ATCAAGAAAGCAACCATCAAA 0.398000 15 110 0 0 0.003163 0 0 GLP1R 2740 broad.mit.edu 37 6 39047364 39047364 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr6:39047364C>A ENST00000373256.4 + 11 1111 c.1068C>A c.(1066-1068)ctC>ctA p.L356L NM_002062.3 NP_002053.3 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor 356 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled p.L356L(1) breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) CGCTGACACTCATCCCCCTGC 0.577000 9 71 0.000978159 0.00126427 0.000978 1 0 INHBA 3624 broad.mit.edu 37 7 41730102 41730102 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr7:41730102C>T ENST00000242208.4 - 3 673 c.427G>A c.(427-429)Gaa>Aaa p.E143K INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.E143K|AC005027.3_ENST00000416150.1_RNA NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 143 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity p.K142_E143>NK(1) biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 TCACTGCCTTCCTTGGAAATC 0.502000 TSP Lung(11;0.080) 15 47 0 0 0.003163 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29938182 29938182 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:29938182G>T ENST00000378993.1 + 8 1701 c.1028G>T c.(1027-1029)cGa>cTa p.R343L IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R343L NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 343 Ig-like C2-type 3. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity p.R343Q(2)|p.R343L(2) biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 AATGGACGTCGACACGCCAGC 0.438000 32 95 1.08312e-15 2.27631e-15 0.001786 1 0 FBXW12 285231 broad.mit.edu 37 3 48416855 48416855 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr3:48416855G>T ENST00000296438.5 + 5 484 c.298G>T c.(298-300)Gag>Tag p.E100* FBXW12_ENST00000436231.1_5'UTR|FBXW12_ENST00000445170.1_Nonsense_Mutation_p.E81*|FBXW12_ENST00000415155.1_Nonsense_Mutation_p.E100* NM_207102.2 NP_996985.2 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 100 p.E100*(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ATTTGAGACGGAGTTGGCTTA 0.393000 9 69 9.70103e-10 1.70593e-09 0.000673 1 0 LPHN2 23266 broad.mit.edu 37 1 82432281 82432281 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:82432281G>T ENST00000370728.1 + 15 2970 c.2325G>T c.(2323-2325)ctG>ctT p.L775L LPHN2_ENST00000370721.1_Silent_p.L700L|LPHN2_ENST00000271029.4_Silent_p.L775L|LPHN2_ENST00000370725.1_Silent_p.L775L|LPHN2_ENST00000335786.5_Silent_p.L775L|LPHN2_ENST00000370713.1_Silent_p.L762L|LPHN2_ENST00000370715.1_Silent_p.L762L|LPHN2_ENST00000359929.3_Silent_p.L762L|LPHN2_ENST00000370717.2_Silent_p.L775L|LPHN2_ENST00000370723.1_Silent_p.L762L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Silent_p.L762L|LPHN2_ENST00000394879.1_Silent_p.L762L|LPHN2_ENST00000370730.1_Silent_p.L775L|LPHN2_ENST00000370727.1_Silent_p.L775L O95490 LPHN2_HUMAN latrophilin 2 775 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.L762L(1)|p.L775L(1) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TTTTTACCCTGCCACACATTG 0.418000 24 141 2.32416e-17 5.135e-17 0.002299 1 0 SGCG 6445 broad.mit.edu 37 13 23853548 23853548 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr13:23853548G>T ENST00000218867.3 + 5 560 c.436G>T c.(436-438)Gac>Tac p.D146Y SGCG_ENST00000537476.1_Missense_Mutation_p.D146Y|SGCG_ENST00000545013.1_Missense_Mutation_p.D146Y NM_000231.2 NP_000222.1 Q13326 SGCG_HUMAN sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) 146 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma p.D146Y(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188) all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205) CAACTCCAACGACGGCAAGCC 0.383000 10 39 0.000978159 0.00126427 0.000978 1 0 CPS1 1373 broad.mit.edu 37 2 211513216 211513216 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:211513216C>T ENST00000233072.5 + 27 3552 c.3356C>T c.(3355-3357)gCa>gTa p.A1119V CPS1_ENST00000451903.2_Missense_Mutation_p.A668V|CPS1_ENST00000430249.2_Missense_Mutation_p.A1125V NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1119 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity p.A1119V(1)|p.A1125V(1) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CTGGAATTTGCAAAGTCTGTG 0.323000 24 140 0 0 0.004656 0 0 SERPINA6 866 broad.mit.edu 37 14 94770786 94770786 + Missense_Mutation SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr14:94770786A>G ENST00000341584.3 - 5 1333 c.1187T>C c.(1186-1188)cTt>cCt p.L396P NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 396 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding p.L396P(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) CGCCAGGAAAAGGCTGCTCCA 0.527000 3 107 0 0 0.000248 0 0 NLRP10 338322 broad.mit.edu 37 11 7981773 7981773 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr11:7981773G>T ENST00000328600.2 - 2 1547 c.1386C>A c.(1384-1386)taC>taA p.Y462* NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 462 NACHT. ATP binding p.Y462*(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGCGGAAGCTGTAGAACTTCT 0.507000 24 146 3.7963e-18 8.53343e-18 0.003330 1 0 ZNF260 339324 broad.mit.edu 37 19 37005408 37005408 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr19:37005408C>A ENST00000523638.1 - 3 1854 c.733G>T c.(733-735)Gag>Tag p.E245* ZNF260_ENST00000592282.1_Nonsense_Mutation_p.E245*|ZNF260_ENST00000593142.1_Nonsense_Mutation_p.E245*|ZNF260_ENST00000588993.1_Nonsense_Mutation_p.E245* NM_001166036.1|NM_001166037.1|NM_001166038.1 NP_001159508.1|NP_001159509.1|NP_001159510.1 Q3ZCT1 ZN260_HUMAN zinc finger protein 260 245 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E245*(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8) 15 Esophageal squamous(110;0.162) TAAGGTTTCTCTCCTGTGTGA 0.418000 30 129 5.90632e-09 9.94648e-09 0.002445 1 0 INHBA 3624 broad.mit.edu 37 7 41730103 41730103 + Missense_Mutation SNP C C A rs151132792 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr7:41730103C>A ENST00000242208.4 - 3 672 c.426G>T c.(424-426)aaG>aaT p.K142N INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.K142N|AC005027.3_ENST00000416150.1_RNA NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 142 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity p.K142_E143>NK(1) biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 CACTGCCTTCCTTGGAAATCT 0.502000 TSP Lung(11;0.080) 13 47 9.31168e-06 1.34099e-05 0.001855 1 0 C3orf27 23434 broad.mit.edu 37 3 128292497 128292497 + Missense_Mutation SNP C C T rs141693917 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr3:128292497C>T ENST00000356020.2 - 3 1042 c.76G>A c.(76-78)Gtc>Atc p.V26I NM_007354.2 NP_031380.1 O15544 GR6_HUMAN chromosome 3 open reading frame 27 26 p.V26I(2) large_intestine(2)|lung(5)|prostate(1) 8 GBM - Glioblastoma multiforme(114;0.176) AGGCGGGAGACGCTGAGTCTA 0.592000 10 28 0 0 0.000978 0 0 ASXL3 80816 broad.mit.edu 37 18 31323602 31323602 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr18:31323602C>G ENST00000269197.5 + 12 3790 c.3790C>G c.(3790-3792)Cta>Gta p.L1264V NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1264 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding p.L1264V(1) breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ATCCTCTGTCCTAATGTCTGT 0.378000 19 76 0 0 0.007413 0 0 SMPD3 55512 broad.mit.edu 37 16 68405827 68405827 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr16:68405827G>T ENST00000219334.5 - 3 861 c.258C>A c.(256-258)tcC>tcA p.S86S SMPD3_ENST00000568373.1_Silent_p.S86S|SMPD3_ENST00000563226.1_Silent_p.S86S NM_018667.3 NP_061137.1 Q9NY59 NSMA2_HUMAN sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 86 cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity p.S86S(1) breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) ACTGCAGTGGGGACCAGAAGA 0.657000 5 63 0.000602214 0.000788215 0.000602 1 0 NALCN 259232 broad.mit.edu 37 13 102047695 102047695 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr13:102047695T>A ENST00000251127.6 - 3 211 c.130A>T c.(130-132)Atc>Ttc p.I44F NALCN_ENST00000376196.3_Missense_Mutation_p.I44F|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.I44F NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 44 integral to membrane sodium channel activity|voltage-gated ion channel activity p.I44F(1) NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ATGGCACAGATGCGCAGCAAA 0.433000 9 54 0 0 0.004482 0 0 TM4SF1 4071 broad.mit.edu 37 3 149093324 149093324 + Missense_Mutation SNP A A T rs140811683 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr3:149093324A>T ENST00000472441.1 - 1 175 c.52T>A c.(52-54)Tgt>Agt p.C18S TM4SF1_ENST00000305366.3_Missense_Mutation_p.C107S P30408 T4S1_HUMAN transmembrane 4 L six family member 1 107 integral to plasma membrane p.C107S(1) endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) ACAATGACACAGTAGCCAGAT 0.512000 8 56 0 0 0.003080 0 0 LMTK2 22853 broad.mit.edu 37 7 97822738 97822738 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr7:97822738C>G ENST00000297293.5 + 11 3254 c.2961C>G c.(2959-2961)ttC>ttG p.F987L NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 987 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.F987L(2) NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CAGCACCCTTCCCAGCCTCTG 0.567000 12 177 0 0 0.001855 0 0 DNAH8 1769 broad.mit.edu 37 6 38905924 38905924 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr6:38905924C>T ENST00000359357.3 + 76 11341 c.11087C>T c.(11086-11088)aCa>aTa p.T3696I DNAH8_ENST00000449981.2_Missense_Mutation_p.T3913I|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.T3660I dynein, axonemal, heavy chain 8 p.T3696I(2) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TTCCTCATCACAGAGATGAGC 0.522000 37 69 0 0 0.004878 0 0 CNGA4 1262 broad.mit.edu 37 11 6260974 6260974 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr11:6260974G>T ENST00000379936.2 + 3 340 c.225G>T c.(223-225)acG>acT p.T75T CNGA4_ENST00000533426.1_Silent_p.T35T NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 75 response to stimulus|sensory perception of smell cAMP binding p.T75T(1) endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGACTACACGAGTGACCTGC 0.537000 6 20 2.0095e-06 2.96832e-06 0.001984 1 0 SIMC1 375484 broad.mit.edu 37 5 175716950 175716950 + Silent SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr5:175716950A>G ENST00000443967.1 + 4 773 c.366A>G c.(364-366)gtA>gtG p.V122V SIMC1_ENST00000429602.2_Silent_p.V141V|SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000503595.1_3'UTR|SIMC1_ENST00000430704.2_Intron SUMO-interacting motifs containing 1 p.V122V(1) ACACCTTTGTAGGTCCCCCAC 0.493000 3 106 0 0 0.004672 0 0 DIDO1 11083 broad.mit.edu 37 20 61528277 61528277 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr20:61528277C>A ENST00000266070.4 - 7 1985 c.1660G>T c.(1660-1662)Ggc>Tgc p.G554C DIDO1_ENST00000395335.2_Missense_Mutation_p.G554C|DIDO1_ENST00000395343.1_Missense_Mutation_p.G554C|DIDO1_ENST00000395340.1_Missense_Mutation_p.G554C NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 554 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.G554C(1) NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) ACCGCGGAGCCTGGAGGGGCT 0.552000 8 57 2.17888e-05 3.06109e-05 0.006214 1 0 AGAP1 116987 broad.mit.edu 37 2 236706518 236706518 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:236706518G>T ENST00000409538.1 + 7 2080 c.1584G>T c.(1582-1584)gtG>gtT p.V528V AGAP1_ENST00000304032.7_Silent_p.V263V|AGAP1_ENST00000336665.5_Silent_p.V263V|AGAP1_ENST00000409457.1_Silent_p.V263V|AGAP1_ENST00000428334.2_Silent_p.V102V Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 263 PH. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding p.V263V(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TGTCTGCCGTGCACATCAGCC 0.493000 42 205 1.62957e-23 3.91855e-23 0.001951 1 0 OR2M7 391196 broad.mit.edu 37 1 248486947 248486947 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:248486947G>T ENST00000317965.2 - 1 952 c.924C>A c.(922-924)ggC>ggA p.G308G NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G308G(1) breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTCCAGACTTGCCCTTTCCTA 0.378000 14 53 4.7546e-09 8.08595e-09 0.004007 1 0 TSHZ2 128553 broad.mit.edu 37 20 51871780 51871780 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr20:51871780G>T ENST00000371497.5 + 2 2670 c.1783G>T c.(1783-1785)Gcc>Tcc p.A595S TSHZ2_ENST00000603338.2_Missense_Mutation_p.A592S|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A592S NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 595 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A595S(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CACACACCTGGCCCCTTACAC 0.512000 28 153 4.22769e-11 7.89068e-11 0.006320 1 0 SIAH3 283514 broad.mit.edu 37 13 46425646 46425646 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr13:46425646G>T ENST00000400405.2 - 1 225 c.119C>A c.(118-120)cCc>cAc p.P40H NM_198849.2 NP_942146.2 Q8IW03 SIAH3_HUMAN siah E3 ubiquitin protein ligase family member 3 40 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding p.P40H(1) large_intestine(3)|lung(7)|ovary(1)|skin(1) 12 GTTGTGTGTGGGGTTGACGAC 0.537000 11 76 0.00010058 0.000136482 0.001368 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125232346 125232346 + Nonsense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:125232346A>T ENST00000431078.1 + 7 1313 c.949A>T c.(949-951)Aaa>Taa p.K317* NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 317 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding p.K317*(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) AGTACCAGGAAAACCTGGGAC 0.368000 7 22 0 0 0.001984 0 0 WSB1 26118 broad.mit.edu 37 17 25631888 25631888 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr17:25631888G>T ENST00000262394.2 + 4 877 c.561G>T c.(559-561)gtG>gtT p.V187V WSB1_ENST00000348811.2_Silent_p.V41V|WSB1_ENST00000427287.2_Silent_p.V156V|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000579733.1_Silent_p.V41V|WSB1_ENST00000581185.1_Silent_p.V187V NM_015626.8 NP_056441.6 Q9Y6I7 WSB1_HUMAN WD repeat and SOCS box containing 1 187 intracellular signal transduction intracellular protein binding p.V187V(1) lung(3) 3 all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152) BRCA - Breast invasive adenocarcinoma(3;0.0152) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) TGATCCTGGTGTCAGCTTCAA 0.378000 28 117 6.38683e-12 1.22296e-11 0.001512 1 0 PTPRT 11122 broad.mit.edu 37 20 41306576 41306576 + Silent SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr20:41306576G>C ENST00000373198.3 - 7 1318 c.1083C>G c.(1081-1083)ctC>ctG p.L361L PTPRT_ENST00000373187.1_Silent_p.L361L|PTPRT_ENST00000373193.3_Silent_p.L361L|PTPRT_ENST00000373201.1_Silent_p.L361L|PTPRT_ENST00000356100.2_Silent_p.L361L|PTPRT_ENST00000373184.1_Silent_p.L361L|PTPRT_ENST00000373190.1_Silent_p.L361L NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 361 Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.L361L(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTCGTGTGAGGAGCACTCGGA 0.572000 8 138 0 0 0.004482 0 0 OSBP2 23762 broad.mit.edu 37 22 31285535 31285535 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr22:31285535G>A ENST00000332585.6 + 7 1639 c.1535G>A c.(1534-1536)cGc>cAc p.R512H OSBP2_ENST00000407373.1_Missense_Mutation_p.R339H|OSBP2_ENST00000535268.1_Missense_Mutation_p.R56H|OSBP2_ENST00000437268.2_Missense_Mutation_p.R254H|OSBP2_ENST00000382310.3_Intron|OSBP2_ENST00000446658.2_Missense_Mutation_p.R511H|OSBP2_ENST00000401475.1_Missense_Mutation_p.R145H|OSBP2_ENST00000403222.3_Missense_Mutation_p.R346H NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 512 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 AGGCGAGTCCGCATTCCCAAC 0.597000 5 199 0 0 0.000602 0 0 F5 2153 broad.mit.edu 37 1 169510755 169510755 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:169510755G>T ENST00000367796.3 - 13 3789 c.3588C>A c.(3586-3588)agC>agA p.S1196R F5_ENST00000367797.3_Missense_Mutation_p.S1191R P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1191 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity p.S1191R(1) NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GGGTCACCTGGCTGAGGTCTG 0.512000 102 313 8.27256e-43 2.07617e-42 0.003610 1 0 TNN 63923 broad.mit.edu 37 1 175096160 175096160 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:175096160C>A ENST00000239462.4 + 13 3097 c.2984C>A c.(2983-2985)cCc>cAc p.P995H NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 995 Fibronectin type-III 9. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix p.P995H(2) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ACCTGGACGCCCCCCTCTGCT 0.502000 13 124 7.03913e-09 1.18157e-08 0.001368 1 0 MYH8 4626 broad.mit.edu 37 17 10296216 10296216 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr17:10296216G>A ENST00000403437.2 - 37 5489 c.5395C>T c.(5395-5397)Cgt>Tgt p.R1799C CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1799 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle p.R1799C(1) 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 TCATCTAGACGATGCTGCAGG 0.572000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 54 175 0 0 0.003610 0 0 USP16 10600 broad.mit.edu 37 21 30403014 30403014 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr21:30403014G>T ENST00000334352.4 + 4 391 c.160G>T c.(160-162)Gac>Tac p.D54Y USP16_ENST00000399976.2_Missense_Mutation_p.D54Y|USP16_ENST00000399975.3_Missense_Mutation_p.D54Y|USP16_ENST00000535828.1_Intron NM_001032410.1 NP_001027582.1 Q9Y5T5 UBP16_HUMAN ubiquitin specific peptidase 16 54 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.D54Y(1) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2) 34 CTGTAAGACTGACAATAAAGT 0.373000 11 66 0.00136819 0.00175088 0.001368 1 0 FGB 2244 broad.mit.edu 37 4 155490895 155490895 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr4:155490895C>A ENST00000302068.4 + 7 1251 c.1188C>A c.(1186-1188)acC>acA p.T396T FGB_ENST00000509493.1_Silent_p.T177T|FGB_ENST00000502545.1_Intron NM_005141.4 NP_005132.2 P02675 FIBB_HUMAN fibrinogen beta chain 396 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding p.T396T(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) AAAACAGGACCATGACCATTC 0.458000 25 91 4.7796e-09 8.10182e-09 0.004656 1 0 PTPRB 5787 broad.mit.edu 37 12 70948941 70948941 + Missense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr12:70948941A>T ENST00000451516.2 - 17 4217 c.4218T>A c.(4216-4218)gaT>gaA p.D1406E PTPRB_ENST00000550857.1_Splice_Site_p.D1406_splice|PTPRB_ENST00000550358.1_Splice_Site_p.D1626_splice|PTPRB_ENST00000538708.1_Splice_Site_p.D1406_splice|PTPRB_ENST00000334414.6_Splice_Site_p.D1714_splice|PTPRB_ENST00000261266.5_Splice_Site_p.D1496_splice NM_001206971.1 NP_001193900.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1496 Fibronectin type-III 16. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.D1496E(2)|p.D1714E(1) breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) ATAACTTACCATCAGCCTCTC 0.423000 4 77 0 0 0.000248 0 0 CACNA1C 775 broad.mit.edu 37 12 2714893 2714893 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr12:2714893G>T ENST00000399655.1 + 24 3362 c.3097G>T c.(3097-3099)Gtg>Ttg p.V1033L CACNA1C_ENST00000399638.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399637.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399603.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399595.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399606.1_Missense_Mutation_p.V1053L|CACNA1C_ENST00000335762.5_Missense_Mutation_p.V1058L|CACNA1C_ENST00000399617.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399641.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399634.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399649.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399601.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399644.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399591.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399629.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000327702.7_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399597.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000402845.3_Missense_Mutation_p.V1033L|CACNA1C_ENST00000399621.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000480911.1_Missense_Mutation_p.V1033L|CACNA1C_ENST00000406454.3_Missense_Mutation_p.V1033L|CACNA1C_ENST00000347598.4_Missense_Mutation_p.V1053L|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000344100.3_Missense_Mutation_p.V1033L NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1053 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity p.V1033L(2)|p.V1083L(1)|p.V1053L(1)|p.V568L(1) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CGGGAACATCGTGATTGTCAC 0.587000 9 52 6.40141e-05 8.80194e-05 0.000978 1 0 RTEL1 51750 broad.mit.edu 37 20 62292695 62292695 + Silent SNP G G C rs114124243 by1000genomes TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr20:62292695G>C ENST00000318100.4 + 3 974 c.147G>C c.(145-147)acG>acC p.T49T RTEL1_ENST00000370018.3_Silent_p.T49T|RTEL1_ENST00000508582.2_Silent_p.T49T|RTEL1_ENST00000360203.5_Silent_p.T49T|RTEL1_ENST00000488316.1_3'UTR|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.T49T Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 49 Helicase ATP-binding. DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding p.T49T(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CAGGGAAGACGCTGTGCCTGC 0.627000 13 52 0 0 0.003163 0 0 SPATA6L 55064 broad.mit.edu 37 9 4625390 4625390 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr9:4625390C>A ENST00000454239.2 - 7 851 c.606G>T c.(604-606)caG>caT p.Q202H SPATA6L_ENST00000381895.5_Missense_Mutation_p.Q79H|SPATA6L_ENST00000475086.1_Missense_Mutation_p.Q144H|SPATA6L_ENST00000381890.5_Missense_Mutation_p.Q216H B4DIY4 B4DIY4_HUMAN spermatogenesis associated 6-like 144 p.Q202H(1) CAAGGTTCAACTGAGCTGGCT 0.428000 20 68 1.96292e-10 3.56081e-10 0.001523 1 0 MTHFD2P1 100287639 broad.mit.edu 37 3 95374287 95374287 + RNA SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr3:95374287G>T ENST00000494840.1 - 0 1574 NR_077228.1 TTCTTCCCTAGGGTTGGAATG 0.453000 16 50 1.99824e-07 3.19841e-07 0.004990 1 0 ANKRD34A 284615 broad.mit.edu 37 1 145473875 145473875 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:145473875T>A ENST00000323397.4 + 4 1840 c.547T>A c.(547-549)Tcg>Acg p.S183T NM_001039888.2 NP_001034977.1 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34A 183 p.S183T(1) endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 20 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GTTCTGCACGTCGCCTTCGGA 0.612000 21 99 0 0 0.001882 0 0 CD300LB 124599 broad.mit.edu 37 17 72527477 72527477 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr17:72527477G>T ENST00000392621.1 - 1 128 c.124C>A c.(124-126)Cct>Act p.P42T CD300LB_ENST00000314401.3_Missense_Mutation_p.P42T NM_174892.2 NP_777552.2 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 5 Ig-like V-type. integral to membrane|plasma membrane receptor activity p.P42T(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1) 21 AGCAGAGCAGGGGGCAGCCAC 0.627000 13 47 9.04627e-18 2.01592e-17 0.001855 1 0 FUZ 80199 broad.mit.edu 37 19 50314895 50314895 + Missense_Mutation SNP T T G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr19:50314895T>G ENST00000313777.4 - 4 543 c.380A>C c.(379-381)gAc>gCc p.D127A FUZ_ENST00000445575.2_Missense_Mutation_p.D127A|FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000533418.1_Missense_Mutation_p.D77A|FUZ_ENST00000528094.1_Missense_Mutation_p.D91A|FUZ_ENST00000526575.1_3'UTR NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 127 cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton p.D127A(1) endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) CACCCTCAAGTCCTTCTTCAG 0.547000 13 495 0 0 0.004007 0 0 COL3A1 1281 broad.mit.edu 37 2 189873907 189873907 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:189873907C>G ENST00000304636.3 + 48 3953 c.3783C>G c.(3781-3783)aaC>aaG p.N1261K COL3A1_ENST00000317840.5_Missense_Mutation_p.N958K NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 1261 Fibrillar collagen NC1. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding p.N1261K(1) NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CCGCTAGAAACTGCAGAGACC 0.403000 4 136 0 0 0.000248 0 0 KIAA2026 158358 broad.mit.edu 37 9 5920027 5920027 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr9:5920027G>C ENST00000399933.3 - 8 5968 c.5969C>G c.(5968-5970)gCt>gGt p.A1990G KIAA2026_ENST00000381461.2_Missense_Mutation_p.A1960G NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 1990 p.A1165G(1)|p.A1990G(1) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) AGGAACCTTAGCAGTTGTGTT 0.398000 35 193 0 0 0.004878 0 0 ATG16L1 55054 broad.mit.edu 37 2 234200895 234200895 + Nonsense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:234200895C>T ENST00000392017.4 + 15 1809 c.1552C>T c.(1552-1554)Cga>Tga p.R518* ATG16L1_ENST00000373525.5_Nonsense_Mutation_p.R339*|ATG16L1_ENST00000347464.5_Nonsense_Mutation_p.R355*|ATG16L1_ENST00000392018.1_Nonsense_Mutation_p.R535*|ATG16L1_ENST00000392020.4_Nonsense_Mutation_p.R499* NM_001190266.1|NM_001190267.1|NM_030803.6 NP_001177195.1|NP_001177196.1|NP_110430.5 Q676U5 A16L1_HUMAN autophagy related 16-like 1 (S. cerevisiae) 518 autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding p.R518*(1)|p.R177*(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1) 25 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) TATTGATCTCCGAACAAATGC 0.502000 16 56 0 0 0.003163 0 0 BCOR 54880 broad.mit.edu 37 X 39933626 39933626 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:39933626G>T ENST00000342274.4 - 4 1335 c.973C>A c.(973-975)Ctg>Atg p.L325M BCOR_ENST00000378455.4_Missense_Mutation_p.L325M|BCOR_ENST00000397354.3_Missense_Mutation_p.L325M|BCOR_ENST00000378444.4_Missense_Mutation_p.L325M NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 325 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding p.L325M(1) breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 TCCCCCGGCAGGCCACTGGTG 0.647000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 5 37 0.00116845 0.0015027 0.001168 1 0 ABCC6P1 653190 broad.mit.edu 37 16 18602624 18602624 + RNA SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr16:18602624G>A ENST00000546162.2 + 0 1198 NR_003569.1 TCCCCAAGCTGCTCAGGTGAG 0.587000 13 85 0 0 0.007413 0 0 DNAH5 1767 broad.mit.edu 37 5 13864666 13864666 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr5:13864666C>A ENST00000265104.4 - 28 4540 c.4436G>T c.(4435-4437)tGt>tTt p.C1479F CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1479 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.C1479F(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CAGCGGGCAACACTCGCTGAA 0.527000 Kartagener syndrome 28 60 1.77063e-15 3.6912e-15 0.005443 1 0 PLCB4 5332 broad.mit.edu 37 20 9438112 9438112 + Silent SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr20:9438112G>C ENST00000378501.2 + 30 3027 c.3012G>C c.(3010-3012)acG>acC p.T1004T PLCB4_ENST00000378493.1_Silent_p.T1004T|PLCB4_ENST00000278655.4_Silent_p.T1004T|PLCB4_ENST00000378473.3_Silent_p.T1016T|PLCB4_ENST00000334005.3_Silent_p.T1004T|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Silent_p.T1016T NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 1004 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.T1004T(1) NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 AAATTCAGACGCTGACATCAG 0.348000 15 73 0 0 0.006122 0 0 USP7 7874 broad.mit.edu 37 16 8995984 8995984 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr16:8995984C>A ENST00000344836.4 - 18 2200 c.2002G>T c.(2002-2004)Gag>Tag p.E668* USP7_ENST00000535863.1_Nonsense_Mutation_p.E569*|USP7_ENST00000381886.4_Nonsense_Mutation_p.E652* NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 668 Interaction with ICP0/VMW110. interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.E668*(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 GCAGCCAGCTCGGGATCAACT 0.463000 8 84 0.000442599 0.000585227 0.006214 1 0 ZNF555 148254 broad.mit.edu 37 19 2852695 2852695 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr19:2852695G>T ENST00000334241.4 + 4 770 c.632G>T c.(631-633)cGt>cTt p.R211L ZNF555_ENST00000591539.1_Missense_Mutation_p.R210L|AC006130.3_ENST00000589365.1_RNA NM_001172775.1|NM_152791.4 NP_001166246.1|NP_690004.4 Q8NEP9 ZN555_HUMAN zinc finger protein 555 211 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R211L(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4) 23 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCTTTCCTCGTACTTCCTCC 0.448000 24 75 2.27525e-19 5.27492e-19 0.003954 1 0 ARMC3 219681 broad.mit.edu 37 10 23287230 23287230 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr10:23287230C>A ENST00000298032.5 + 11 1413 c.1329C>A c.(1327-1329)gcC>gcA p.A443A ARMC3_ENST00000409049.3_Silent_p.A443A|ARMC3_ENST00000376528.4_Silent_p.A180A|ARMC3_ENST00000409983.3_Silent_p.A443A NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 443 binding p.A443A(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TCATGCATGCCATCATCAGCC 0.542000 5 16 0.000602214 0.000788215 0.000602 1 0 LONRF3 79836 broad.mit.edu 37 X 118108865 118108865 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:118108865T>C ENST00000365713.2 + 1 285 c.122T>C c.(121-123)gTg>gCg p.V41A LONRF3_ENST00000371628.3_Missense_Mutation_p.V41A|LONRF3_ENST00000304778.7_Missense_Mutation_p.V41A Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 3 41 proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding p.V41A(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 36 CACCCAAAGGTGGCTGCAGAG 0.662000 3 10 0 0 0.004672 0 0 ALDH8A1 64577 broad.mit.edu 37 6 135239767 135239767 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr6:135239767T>C ENST00000265605.2 - 7 1318 c.1250A>G c.(1249-1251)tAt>tGt p.Y417C ALDH8A1_ENST00000367845.2_Missense_Mutation_p.Y363C|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.Y367C NM_022568.3 NP_072090.1 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8 family, member A1 417 retinal metabolic process cytoplasm retinal dehydrogenase activity p.Y417C(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 36 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) CGCCAGCCCATACTTAACGTT 0.552000 13 70 0 0 0.001368 0 0 SERPINB13 5275 broad.mit.edu 37 18 61259614 61259614 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr18:61259614C>A ENST00000344731.5 + 4 360 c.258C>A c.(256-258)ttC>ttA p.F86L SERPINB13_ENST00000269489.5_Missense_Mutation_p.F86L NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 86 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity p.F86L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 ATCAACAATTCCAAAAGTTTT 0.353000 12 62 0.000151284 0.000204749 0.001855 1 0 ZFP36 7538 broad.mit.edu 37 19 39898874 39898874 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr19:39898874G>A ENST00000597629.1 + 2 608 c.534G>A c.(532-534)ctG>ctA p.L178L ZFP36_ENST00000248673.3_Silent_p.L172L P26651 TTP_HUMAN ZFP36 ring finger protein 172 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding p.L172L(1) large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GCGAAGACCTGGCGGCCCCGG 0.662000 27 122 0 0 0.004656 0 0 IPO7 10527 broad.mit.edu 37 11 9438673 9438673 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr11:9438673T>C ENST00000379719.3 + 6 846 c.704T>C c.(703-705)gTt>gCt p.V235A NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 235 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity p.V235A(1) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) TTAAAGACTGTTGTGAACAGG 0.294000 18 87 0 0 0.001523 0 0 INMT-FAM188B 100526825 broad.mit.edu 37 7 30793517 30793517 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr7:30793517C>A ENST00000458257.1 + 2 336 c.322C>A c.(322-324)Cca>Aca p.P108T INMT_ENST00000409539.1_Missense_Mutation_p.P108T|INMT_ENST00000013222.5_Missense_Mutation_p.P109T|INMT_ENST00000484180.1_3'UTR p.P109T(1) TGACTGGACCCCAGCGGTGAA 0.572000 37 130 1.06647e-15 2.25048e-15 0.003755 1 0 LRRC32 2615 broad.mit.edu 37 11 76372209 76372209 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr11:76372209C>A ENST00000407242.2 - 3 670 c.428G>T c.(427-429)cGg>cTg p.R143L LRRC32_ENST00000260061.5_Missense_Mutation_p.R143L|LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.R143L NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 143 integral to plasma membrane p.R143L(1) endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 CCCCAGCAGCCGCTCCAGCAG 0.687000 14 55 0.000219431 0.000294665 0.002450 1 0 IP6K3 117283 broad.mit.edu 37 6 33690860 33690860 + Silent SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr6:33690860A>G ENST00000451316.1 - 7 1405 c.870T>C c.(868-870)aaT>aaC p.N290N IP6K3_ENST00000293756.4_Silent_p.N290N NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 290 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity p.N290N(1) skin(1) 1 GGTGGCTTCCATTATGTAGGA 0.502000 22 54 0 0 0.002299 0 0 TBP 6908 broad.mit.edu 37 6 170871076 170871076 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr6:170871076G>A ENST00000392092.2 + 3 531 c.252G>A c.(250-252)caG>caA p.Q84Q TBP_ENST00000230354.6_Silent_p.Q84Q|TBP_ENST00000540980.1_Silent_p.Q64Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 84 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q84Q(2) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.602000 5 38 0 0 0.000602 0 0 COL3A1 1281 broad.mit.edu 37 2 189859522 189859522 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:189859522G>T ENST00000304636.3 + 20 1590 c.1420G>T c.(1420-1422)Ggt>Tgt p.G474C COL3A1_ENST00000317840.5_Missense_Mutation_p.G474C NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 474 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding p.G474C(1) NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TGGAGAACCTGGTGCAAATGG 0.448000 12 93 7.93312e-07 1.19575e-06 0.002450 1 0 FLG 2312 broad.mit.edu 37 1 152283761 152283761 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:152283761G>T ENST00000368799.1 - 3 3636 c.3601C>A c.(3601-3603)Cag>Aag p.Q1201K FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1201 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.Q1201K(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACCTTCCCTGGGATGTGGTG 0.567000 Ichthyosis 146 550 1.25085e-53 3.15459e-53 0.003610 1 0 MFF 56947 broad.mit.edu 37 2 228205013 228205013 + Silent SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:228205013A>T ENST00000353339.3 + 6 876 c.435A>T c.(433-435)cgA>cgT p.R145R MFF_ENST00000524634.1_5'UTR|MFF_ENST00000304593.9_Silent_p.R119R|MFF_ENST00000409565.1_Silent_p.R119R|MFF_ENST00000337110.7_Silent_p.R119R|MFF_ENST00000349901.7_Silent_p.R119R|MFF_ENST00000409616.1_Silent_p.R119R|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000392059.1_Silent_p.R145R|MFF_ENST00000354503.6_Silent_p.R119R NM_001277061.1 NP_001263990.1 Q9GZY8 MFF_HUMAN mitochondrial fission factor 145 integral to membrane|mitochondrial outer membrane p.R145R(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2) 21 AACAGATCCGAGCAGTTGGCA 0.428000 14 55 0 0 0.002450 0 0 LRFN5 145581 broad.mit.edu 37 14 42355863 42355863 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr14:42355863G>A ENST00000554171.1 + 5 2467 c.35G>A c.(34-36)gGc>gAc p.G12D LRFN5_ENST00000298119.4_Missense_Mutation_p.G12D|LRFN5_ENST00000554120.1_Missense_Mutation_p.G12D Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 12 integral to membrane p.G12D(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TTTCTCATTGGCATAGCAGTG 0.373000 HNSCC(30;0.082) 11 52 0 0 0.000978 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209142361 209142361 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:209142361G>T ENST00000264380.4 + 5 700 c.542G>T c.(541-543)cGa>cTa p.R181L PIKFYVE_ENST00000392202.3_Intron|PIKFYVE_ENST00000308862.6_Intron|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.R181L NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 181 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding p.R181L(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 CACCATTGCCGACTATGTGGG 0.403000 34 121 2.42023e-17 5.30195e-17 0.003271 1 0 SAMSN1 64092 broad.mit.edu 37 21 15872992 15872992 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr21:15872992T>C ENST00000285670.2 - 7 1004 c.830A>G c.(829-831)aAt>aGt p.N277S SAMSN1_ENST00000400564.1_Missense_Mutation_p.N41S|SAMSN1_ENST00000400566.1_Missense_Mutation_p.N209S NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 209 SAM. negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding p.N209S(1)|p.N277S(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) TCCCACTTTATTGTTCAACAT 0.383000 23 130 0 0 0.002299 0 0 DVL3 1857 broad.mit.edu 37 3 183885372 183885372 + Silent SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr3:183885372A>T ENST00000313143.3 + 12 1451 c.1203A>T c.(1201-1203)ctA>ctT p.L401L EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Silent_p.L384L NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 401 canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity p.L401L(1) breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) CCCCAGGCCTAGACGACTTCC 0.527000 7 32 0 0 0.003080 0 0 FAM46D 169966 broad.mit.edu 37 X 79699123 79699123 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:79699123C>A ENST00000538312.1 + 5 1419 c.1085C>A c.(1084-1086)cCt>cAt p.P362H FAM46D_ENST00000308293.5_Missense_Mutation_p.P362H NM_001170574.1 NP_001164045.1 Q8NEK8 FA46D_HUMAN family with sequence similarity 46, member D 362 p.P362H(1) kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 GCAAGGTACCCTATTTATGTA 0.428000 8 49 0.00448238 0.00562474 0.004482 1 0 IGSF22 283284 broad.mit.edu 37 11 18745745 18745745 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr11:18745745G>T ENST00000513874.1 - 2 178 c.39C>A c.(37-39)caC>caA p.H13Q RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 13 p.H13Q(2) NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 CCATGGACACGTGCTCCTGCA 0.597000 27 120 1.17739e-12 2.3145e-12 0.005443 1 0 ATP2B1 490 broad.mit.edu 37 12 90028574 90028574 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr12:90028574C>A ENST00000428670.3 - 5 1224 c.768G>T c.(766-768)aaG>aaT p.K256N ATP2B1_ENST00000348959.3_Missense_Mutation_p.K256N|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K256N|ATP2B1_ENST00000261173.2_Missense_Mutation_p.K256N P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 256 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding p.K256N(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 GTAAGGGATCCTTATCTAAAG 0.348000 8 38 7.48243e-07 1.13777e-06 0.006214 1 0 SLC17A4 10050 broad.mit.edu 37 6 25773866 25773866 + Silent SNP G G C rs146741384 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr6:25773866G>C ENST00000377905.4 + 8 1070 c.951G>C c.(949-951)acG>acC p.T317T SLC17A4_ENST00000397076.2_Silent_p.T87T|SLC17A4_ENST00000439485.2_Intron NM_005495.2 NP_005486.1 Q9Y2C5 S17A4_HUMAN solute carrier family 17, member 4 317 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity p.T317T(1) breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 ACACACCAACGTACATCAGCT 0.388000 46 64 0 0 0.003610 0 0 SYNE2 23224 broad.mit.edu 37 14 64516346 64516346 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr14:64516346G>C ENST00000358025.3 + 47 7625 c.7395G>C c.(7393-7395)ttG>ttC p.L2465F SYNE2_ENST00000344113.4_Missense_Mutation_p.L2465F|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.L2498F NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2465 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding p.L2465F(1) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ATACCCAGTTGGAAGCAAAGA 0.358000 7 43 0 0 0.001984 0 0 DENND5B 160518 broad.mit.edu 37 12 31633191 31633191 + Splice_Site SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr12:31633191T>A ENST00000389082.5 - 3 502 c.e3-2 DENND5B_ENST00000354285.4_Splice_Site|DENND5B_ENST00000306833.6_Splice_Site|DENND5B_ENST00000536562.1_Splice_Site|DENND5B_ENST00000545147.1_Intron NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B integral to membrane p.?(1) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CATGCACAACTGTGAAAGAAA 0.363000 3 5 0 0 0.004672 0 0 SCG2 7857 broad.mit.edu 37 2 224462975 224462975 + Silent SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:224462975A>T ENST00000305409.2 - 2 1258 c.1026T>A c.(1024-1026)ccT>ccA p.P342P NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 342 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity p.P342P(1) NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) GAGAATCAAGAGGTTTCTCAA 0.418000 19 152 0 0 0.007413 0 0 USP26 83844 broad.mit.edu 37 X 132160953 132160953 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:132160953G>T ENST00000511190.1 - 6 1765 c.1296C>A c.(1294-1296)tgC>tgA p.C432* USP26_ENST00000406273.1_Nonsense_Mutation_p.C432*|USP26_ENST00000370832.1_Nonsense_Mutation_p.C432* NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 432 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.C432*(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) TAATGACAGGGCAAGAAAACC 0.378000 22 109 1.9806e-07 3.18003e-07 0.002299 1 0 ABCC6P1 653190 broad.mit.edu 37 16 18602625 18602625 + RNA SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr16:18602625C>T ENST00000546162.2 + 0 1199 NR_003569.1 CCCCAAGCTGCTCAGGTGAGT 0.582000 13 83 0 0 0.006122 0 0 GALNT15 117248 broad.mit.edu 37 3 16268973 16268973 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr3:16268973G>A ENST00000339732.5 + 10 2389 c.1886G>A c.(1885-1887)cGt>cAt p.R629H GALNT15_ENST00000437509.1_Intron NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 p.R629H(2) CAGCAGTGGCGTTTTGACCAG 0.443000 9 77 0 0 0.001368 0 0 SYT4 6860 broad.mit.edu 37 18 40853633 40853633 + Missense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr18:40853633A>T ENST00000255224.3 - 2 1129 c.761T>A c.(760-762)aTt>aAt p.I254N SYT4_ENST00000590752.1_Missense_Mutation_p.I236N|SYT4_ENST00000586678.1_Intron NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 254 C2 1.|Phospholipid binding (Probable). cell junction|integral to membrane|synaptic vesicle membrane transporter activity p.I254N(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 AACTTCCCCAATGATATCATC 0.353000 8 53 0 0 0.003080 0 0 BBS2 583 broad.mit.edu 37 16 56519510 56519510 + Missense_Mutation SNP C C T rs138913160 byFrequency TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr16:56519510C>T ENST00000245157.5 - 16 2471 c.2051G>A c.(2050-2052)cGt>cAt p.R684H BBS2_ENST00000568104.1_Missense_Mutation_p.R638H NM_031885.3 NP_114091.3 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 684 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding p.R684H(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3) 26 ACCCCGCAGACGACCTGCTCT 0.388000 Bardet-Biedl syndrome 5 184 0 0 0.000602 0 0 FBXL13 222235 broad.mit.edu 37 7 102517943 102517943 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr7:102517943C>A ENST00000393772.2 - 16 2032 c.1606G>T c.(1606-1608)Gat>Tat p.D536Y FBXL13_ENST00000379308.3_Missense_Mutation_p.D536Y|FBXL13_ENST00000436908.1_Missense_Mutation_p.D536Y|FBXL13_ENST00000313221.4_Missense_Mutation_p.D536Y|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Missense_Mutation_p.D536Y|FBXL13_ENST00000455112.2_Missense_Mutation_p.D536Y|FBXL13_ENST00000456695.1_Intron Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 536 p.D536Y(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 CCAGAGAGATCTATTGATACC 0.294000 15 69 1.02788e-11 1.94658e-11 0.004990 1 0 ZSCAN5B 342933 broad.mit.edu 37 19 56704299 56704299 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr19:56704299C>A ENST00000586855.2 - 2 436 c.123G>T c.(121-123)gaG>gaT p.E41D ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.E41D A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 41 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E41D(2) breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TGTGCCAAGTCTCAGGGTTCC 0.577000 9 16 3.09899e-07 4.88468e-07 0.004482 1 0 HNRNPUL2 221092 broad.mit.edu 37 11 62490080 62490080 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr11:62490080C>A ENST00000301785.5 - 6 1280 c.1088G>T c.(1087-1089)tGc>tTc p.C363F RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.C363F NM_001079559.2 NP_001073027.1 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 2 363 B30.2/SPRY. cell killing nucleus ATP binding|nucleic acid binding p.C363F(1) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TACAGCAAAGCAGCCAATAAC 0.453000 8 64 5.4927e-09 9.28016e-09 0.004482 1 0 SKIL 6498 broad.mit.edu 37 3 170078605 170078605 + Missense_Mutation SNP A A C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr3:170078605A>C ENST00000458537.3 + 1 1195 c.486A>C c.(484-486)gaA>gaC p.E162D SKIL_ENST00000259119.4_Missense_Mutation_p.E162D|SKIL_ENST00000426052.2_Missense_Mutation_p.E142D|SKIL_ENST00000413427.2_Missense_Mutation_p.E162D NM_001145097.2|NM_001248008.1|NM_005414.4 NP_001138569.1|NP_001234937.1|NP_005405.2 P12757 SKIL_HUMAN SKI-like oncogene 162 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity p.E162D(1) cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TTGGAGGAGAAAAGAGACTCT 0.408000 3 134 0 0 0.000248 0 0 FGD1 2245 broad.mit.edu 37 X 54497808 54497808 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:54497808C>A ENST00000375135.3 - 2 1153 c.420G>T c.(418-420)ccG>ccT p.P140P NM_004463.2 NP_004454.2 P98174 FGD1_HUMAN FYVE, RhoGEF and PH domain containing 1 140 Pro-rich. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding p.P140P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GGGTTTCAGTCGGGGGACCTG 0.607000 32 79 8.88839e-20 2.06995e-19 0.002096 1 0 TRIM69 140691 broad.mit.edu 37 15 45059693 45059693 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr15:45059693C>T ENST00000558173.1 + 5 5359 c.614C>T c.(613-615)cCt>cTt p.P205L TRIM69_ENST00000560442.1_Missense_Mutation_p.P205L|TRIM69_ENST00000329464.4_Missense_Mutation_p.P409L|TRIM69_ENST00000338264.4_Missense_Mutation_p.P250L|TRIM69_ENST00000558329.1_Missense_Mutation_p.P188L|TRIM69_ENST00000559390.1_Missense_Mutation_p.P409L|TRIM69_ENST00000561043.1_Missense_Mutation_p.P172L Q86WT6 TRI69_HUMAN tripartite motif containing 69 409 apoptosis nuclear speck zinc ion binding p.P409L(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1) 20 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) CCTCTAACTCCTGAGCAAGGA 0.448000 5 84 0 0 0.000602 0 0 WNT5A 7474 broad.mit.edu 37 3 55504432 55504432 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr3:55504432C>A ENST00000474267.1 - 6 1352 c.831G>T c.(829-831)cgG>cgT p.R277R WNT5A_ENST00000264634.4_Silent_p.R277R|WNT5A_ENST00000497027.1_Silent_p.R262R P41221 WNT5A_HUMAN wingless-type MMTV integration site family, member 5A 277 activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.R370L(1) breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204) GGCTGTTGAGCCGCATGGCCG 0.617000 3 18 0.00024832 0.000330029 0.000248 1 0 MAGEB18 286514 broad.mit.edu 37 X 26157298 26157298 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:26157298G>T ENST00000325250.1 + 2 383 c.196G>T c.(196-198)Gga>Tga p.G66* NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 66 protein binding p.G66*(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 AGCGCTTCAGGGAGCCCCATC 0.532000 12 46 1.61879e-10 2.96778e-10 0.001368 1 0 PTPRN2 5799 broad.mit.edu 37 7 157959945 157959945 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr7:157959945C>A ENST00000389413.3 - 6 691 c.588G>T c.(586-588)gtG>gtT p.V196V PTPRN2_ENST00000409483.1_Silent_p.V158V|PTPRN2_ENST00000389416.4_Silent_p.V179V|PTPRN2_ENST00000389418.4_Silent_p.V196V|PTPRN2_ENST00000404321.2_Silent_p.V219V NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 196 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.V196V(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) ACGTGTGGGCCACATAGGTCA 0.627000 10 78 0.000442599 0.000585227 0.006214 1 0 MAGEA8 4107 broad.mit.edu 37 X 149013289 149013289 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:149013289C>G ENST00000535454.1 + 4 792 c.243C>G c.(241-243)agC>agG p.S81R MAGEA8_ENST00000542674.1_Missense_Mutation_p.S81R|MAGEA8_ENST00000493910.1_3'UTR|MAGEA8_ENST00000286482.1_Missense_Mutation_p.S81R NM_001166400.1 NP_001159872.1 P43361 MAGA8_HUMAN melanoma antigen family A, 8 81 p.S81R(1) NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;6.56e-05) CTCTGTGGAGCCAATCCGATG 0.597000 20 91 0 0 0.007413 0 0 GPR18 2841 broad.mit.edu 37 13 99908075 99908075 + Missense_Mutation SNP G G T rs138394107 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr13:99908075G>T ENST00000340807.3 - 3 608 c.52C>A c.(52-54)Cca>Aca p.P18T UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.P18T|GPR18_ENST00000397470.2_Missense_Mutation_p.P18T|UBAC2_ENST00000403766.3_Intron Q14330 GPR18_HUMAN G protein-coupled receptor 18 18 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.P18T(1) endometrium(2)|large_intestine(2)|lung(6) 10 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) TATTCATCTGGATGTGAGCTG 0.358000 30 112 8.88839e-20 2.06995e-19 0.002096 1 0 MCM8 84515 broad.mit.edu 37 20 5958578 5958578 + Silent SNP C C T rs113442872 byFrequency TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr20:5958578C>T ENST00000378896.3 + 13 1829 c.1452C>T c.(1450-1452)acC>acT p.T484T MCM8_ENST00000265187.4_Silent_p.T468T|MCM8_ENST00000378886.2_Silent_p.T524T|MCM8_ENST00000378883.1_Silent_p.T437T NM_032485.4|NM_182802.1 NP_115874.3|NP_877954.1 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 484 MCM.|Thr-rich. cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity p.T484T(1)|p.T468T(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 CCACGACCACCTCTGGTCTGA 0.473000 15 59 0 0 0.003163 0 0 OR2B2 81697 broad.mit.edu 37 6 27879562 27879562 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr6:27879562C>G ENST00000303324.2 - 1 612 c.536G>C c.(535-537)tGt>tCt p.C179S NM_033057.2 NP_149046.2 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, member 2 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C179S(1) cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 AGGGACTTCACAGAAGAAGTG 0.453000 25 128 0 0 0.006320 0 0 TNIK 23043 broad.mit.edu 37 3 170858245 170858245 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr3:170858245C>A ENST00000436636.2 - 13 1619 c.1275G>T c.(1273-1275)cgG>cgT p.R425R TNIK_ENST00000475336.1_Silent_p.R425R|TNIK_ENST00000488470.1_Silent_p.R425R|TNIK_ENST00000538048.1_Silent_p.R425R|TNIK_ENST00000460047.1_Silent_p.R425R|TNIK_ENST00000470834.1_Silent_p.R425R|TNIK_ENST00000369326.5_Silent_p.R425R|TNIK_ENST00000357327.5_Silent_p.R425R|TNIK_ENST00000341852.6_Silent_p.R425R|TNIK_ENST00000284483.8_Silent_p.R425R NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 425 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity p.R425R(2) cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) CCTCATAGTGCCGGCGCTGCT 0.652000 40 181 5.44703e-19 1.24607e-18 0.002222 1 0 HTR2A 3356 broad.mit.edu 37 13 47466725 47466725 + Splice_Site SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr13:47466725C>A ENST00000378688.4 - 2 544 c.412_splice c.e2-1 p.G138_splice HTR2A_ENST00000542664.1_Splice_Site_p.G138_splice|HTR2A_ENST00000543956.1_Splice_Site_p.W54_splice P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 138 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity p.G138V(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CCACCGGTACCCTATGAGGCA 0.567000 16 58 6.94344e-10 1.22937e-09 0.006122 1 0 TSHZ2 128553 broad.mit.edu 37 20 51871779 51871779 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr20:51871779G>A ENST00000371497.5 + 2 2669 c.1782G>A c.(1780-1782)ctG>ctA p.L594L TSHZ2_ENST00000603338.2_Silent_p.L591L|TSHZ2_ENST00000329613.6_Silent_p.L591L NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 594 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A595S(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CCACACACCTGGCCCCTTACA 0.517000 29 150 0 0 0.001512 0 0 LRRC66 339977 broad.mit.edu 37 4 52860731 52860731 + Silent SNP C C A rs137931708 by1000genomes TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr4:52860731C>A ENST00000343457.3 - 4 2463 c.2457G>T c.(2455-2457)ccG>ccT p.P819P NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 819 integral to membrane p.P819P(1) central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 TGAACATGCCCGGAAACTCAT 0.468000 13 71 1.61879e-10 2.96778e-10 0.001368 1 0 MUC16 94025 broad.mit.edu 37 19 9074617 9074617 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr19:9074617T>A ENST00000397910.4 - 3 13032 c.12829A>T c.(12829-12831)Acc>Tcc p.T4277S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4279 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.T4277S(2) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGTGGGAGGTAACCAATGGA 0.493000 17 66 0 0 0.004990 0 0 PAOX 196743 broad.mit.edu 37 10 135203244 135203244 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr10:135203244G>T ENST00000278060.5 + 6 1468 c.1385G>T c.(1384-1386)gGc>gTc p.G462V PAOX_ENST00000357296.3_Intron|PAOX_ENST00000480071.2_Intron|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR NM_152911.2 NP_690875.1 Q6QHF9 PAOX_HUMAN polyamine oxidase (exo-N4-amino) 600 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity p.G462V(1) cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2) 23 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) GACGGCGCCGGCGCCCAGGTA 0.736000 4 30 0.000602214 0.000788215 0.000602 1 0 OR4A47 403253 broad.mit.edu 37 11 48510785 48510785 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr11:48510785G>T ENST00000446524.1 + 1 517 c.441G>T c.(439-441)tgG>tgT p.W147C NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W147F(1) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TAGTGTCCTGGGTTGGAGGAT 0.443000 21 101 1.01871e-10 1.89451e-10 0.001216 1 0 CCDC40 55036 broad.mit.edu 37 17 78023992 78023992 + Missense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr17:78023992A>T ENST00000397545.4 + 7 1096 c.1069A>T c.(1069-1071)Agc>Tgc p.S357C CCDC40_ENST00000269318.5_Missense_Mutation_p.S357C|CCDC40_ENST00000374877.3_Missense_Mutation_p.S357C|CCDC40_ENST00000374876.4_Missense_Mutation_p.S357C NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 357 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm p.S357C(2) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AATGGCCTCGAGCGAGCGCAG 0.632000 8 22 0 0 0.003080 0 0 CYP8B1 1582 broad.mit.edu 37 3 42916116 42916116 + Missense_Mutation SNP G G T rs141302264 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr3:42916116G>T ENST00000316161.4 - 1 1517 c.1193C>A c.(1192-1194)cCt>cAt p.P398H CYP8B1_ENST00000437102.1_Missense_Mutation_p.P398H|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron NM_004391.2 NP_004382.2 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, polypeptide 1 398 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity p.P398H(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) GGTGGGCTCAGGGTGGATGTC 0.547000 34 142 1.67305e-13 3.39202e-13 0.006230 1 0 HKDC1 80201 broad.mit.edu 37 10 71010090 71010090 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr10:71010090C>T ENST00000354624.5 + 11 1748 c.1615C>T c.(1615-1617)Cgg>Tgg p.R539W HKDC1_ENST00000395086.2_Missense_Mutation_p.R539W NM_025130.3 NP_079406.3 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 539 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity p.R539W(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 AACCAACTTCCGGGTCCTCCT 0.542000 22 208 0 0 0.001882 0 0 HSPB7 27129 broad.mit.edu 37 1 16342123 16342123 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:16342123C>A ENST00000311890.9 - 3 1291 c.465G>T c.(463-465)ccG>ccT p.P155P HSPB7_ENST00000487046.1_Silent_p.P160P|HSPB7_ENST00000411503.1_Silent_p.P150P|HSPB7_ENST00000406363.2_Silent_p.P159P|HSPB7_ENST00000375718.4_Silent_p.P230P NM_014424.4 NP_055239.1 Q9UBY9 HSPB7_HUMAN heat shock 27kDa protein family, member 7 (cardiovascular) 155 regulation of heart contraction|response to heat|response to unfolded protein Cajal body protein C-terminus binding p.P155P(1) breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) GTTCTGTATGCGGGTGACGCC 0.652000 19 32 8.34094e-07 1.24993e-06 0.001216 1 0 KIF5C 3800 broad.mit.edu 37 2 149840154 149840154 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:149840154G>T ENST00000435030.1 + 15 1958 c.1590G>T c.(1588-1590)caG>caT p.Q530H KIF5C_ENST00000414838.2_Missense_Mutation_p.Q435H|KIF5C_ENST00000397413.1_Missense_Mutation_p.Q298H|KIF5C_ENST00000464066.1_3'UTR O60282 KIF5C_HUMAN kinesin family member 5C 530 microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity p.Q530H(1)|p.Q433H(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) CAACCACACAGAGAGAGCTGA 0.413000 9 50 7.48243e-07 1.13777e-06 0.006214 1 0 PCOLCE2 26577 broad.mit.edu 37 3 142567310 142567310 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr3:142567310G>T ENST00000295992.3 - 3 503 c.197C>A c.(196-198)cCc>cAc p.P66H PCOLCE2_ENST00000485766.1_Missense_Mutation_p.P66H NM_013363.3 NP_037495.1 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 66 CUB 1. extracellular region collagen binding|heparin binding|peptidase activator activity p.P66H(1) NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 32 TTTTCCTTCGGGAACCTGCCA 0.413000 21 63 8.04996e-18 1.80166e-17 0.001882 1 0 HCFC1 3054 broad.mit.edu 37 X 153219071 153219071 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:153219071C>A ENST00000310441.7 - 18 5450 c.4484G>T c.(4483-4485)gGc>gTc p.G1495V HCFC1_ENST00000369984.4_Missense_Mutation_p.G1495V|HCFC1_ENST00000354233.3_Missense_Mutation_p.G1426V NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 1495 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.G1495V(1)|p.G1398V(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CACAGAGGGGCCCGGGACCGG 0.652000 13 62 0.00185496 0.0023621 0.001855 1 0 EYA2 2139 broad.mit.edu 37 20 45633640 45633640 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr20:45633640C>A ENST00000327619.5 + 4 589 c.215C>A c.(214-216)aCg>aAg p.T72K EYA2_ENST00000317304.6_Missense_Mutation_p.T72K|EYA2_ENST00000357410.3_Missense_Mutation_p.T72K NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 72 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity p.T72K(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) TACGGCCAGACGCAGTACAGT 0.562000 31 137 3.57733e-08 5.87136e-08 0.001786 1 0 OMG 4974 broad.mit.edu 37 17 29622582 29622582 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr17:29622582G>T ENST00000247271.4 - 2 1029 c.768C>A c.(766-768)acC>acA p.T256T NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron NM_002544.4 NP_002535.3 P23515 OMGP_HUMAN oligodendrocyte myelin glycoprotein 256 cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|plasma membrane p.0?(8)|p.?(3)|p.T256T(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1) 13 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121) ATGATATTTGGGTAGAACATG 0.398000 15 112 3.27435e-08 5.40844e-08 0.002450 1 0 MEOX1 4222 broad.mit.edu 37 17 41738726 41738726 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr17:41738726G>T ENST00000318579.4 - 1 596 c.177C>A c.(175-177)taC>taA p.Y59* MEOX1_ENST00000549132.1_Missense_Mutation_p.T30N|MEOX1_ENST00000329168.3_Nonsense_Mutation_p.Y59*|MEOX1_ENST00000393661.2_5'UTR NM_001040002.1|NM_004527.3 NP_001035091.1|NP_004518.1 P50221 MEOX1_HUMAN mesenchyme homeobox 1 59 nucleus sequence-specific DNA binding p.Y59*(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 8 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0753) AGAAGTCAGGGTACGCTGCCG 0.647000 11 72 3.86212e-05 5.36752e-05 0.000673 1 0 GPR64 10149 broad.mit.edu 37 X 19027777 19027777 + Silent SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:19027777A>T ENST00000354791.3 - 17 1582 c.1341T>A c.(1339-1341)acT>acA p.T447T GPR64_ENST00000379873.2_Silent_p.T463T|GPR64_ENST00000356606.4_Silent_p.T449T|GPR64_ENST00000379869.3_Silent_p.T463T|GPR64_ENST00000340581.3_Silent_p.T433T|GPR64_ENST00000379876.1_Silent_p.T439T|GPR64_ENST00000357544.3_Silent_p.T433T|GPR64_ENST00000379878.3_Silent_p.T447T|GPR64_ENST00000357991.3_Silent_p.T460T|GPR64_ENST00000360279.4_Silent_p.T441T Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 463 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity p.T460T(1) breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) CCACAAAGGTAGTTGTGTTGA 0.423000 16 104 0 0 0.006122 0 0 NAV3 89795 broad.mit.edu 37 12 78444565 78444565 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr12:78444565C>A ENST00000397909.2 + 11 2327 c.2154C>A c.(2152-2154)gaC>gaA p.D718E NAV3_ENST00000536525.2_Missense_Mutation_p.D718E|NAV3_ENST00000266692.7_Missense_Mutation_p.D718E|NAV3_ENST00000228327.6_Missense_Mutation_p.D718E Q8IVL0 NAV3_HUMAN neuron navigator 3 718 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.D718E(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CAACATTTGACAGCACTGTGA 0.473000 HNSCC(70;0.22) 16 82 2.4624e-09 4.22943e-09 0.001216 1 0 TMTC1 83857 broad.mit.edu 37 12 29669312 29669312 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr12:29669312G>T ENST00000256062.5 - 15 2426 c.1953C>A c.(1951-1953)gcC>gcA p.A651A TMTC1_ENST00000551659.1_Silent_p.A821A|TMTC1_ENST00000552618.1_Silent_p.A783A|TMTC1_ENST00000539277.1_Silent_p.A759A|TMTC1_ENST00000319685.8_5'UTR NM_175861.3 NP_787057.2 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat containing 1 759 integral to membrane binding p.A651A(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) TGCTATAGATGGCTGACAAGA 0.448000 27 119 2.44723e-14 5.00086e-14 0.004656 1 0 ZNF728 388523 broad.mit.edu 37 19 23159803 23159803 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr19:23159803C>A ENST00000594710.1 - 4 481 c.336G>T c.(334-336)caG>caT p.Q112H NM_001267716.1 NP_001254645.1 zinc finger protein 728 CAATTTTTAACTGTAAATTCT 0.358000 19 46 5.3912e-06 7.85142e-06 0.006122 1 0 SPATA6L 55064 broad.mit.edu 37 9 4625413 4625413 + Missense_Mutation SNP A A C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr9:4625413A>C ENST00000454239.2 - 7 828 c.583T>G c.(583-585)Ttc>Gtc p.F195V SPATA6L_ENST00000223517.5_5'UTR|SPATA6L_ENST00000381895.5_Missense_Mutation_p.F72V|SPATA6L_ENST00000475086.1_Missense_Mutation_p.F137V|SPATA6L_ENST00000381890.5_Missense_Mutation_p.F209V B4DIY4 B4DIY4_HUMAN spermatogenesis associated 6-like 137 p.F195V(1) TCCTGGAAGAAATGCCTGGTA 0.433000 19 71 0 0 0.007413 0 0 NEFL 4747 broad.mit.edu 37 8 24811218 24811218 + RNA SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr8:24811218G>A ENST00000221169.5 - 0 1855 P07196 NFL_HUMAN neurofilament, light polypeptide anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton p.R421*(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) TAGGCAGATCGGCCAAAGACC 0.572000 13 78 0 0 0.002450 0 0 UBQLN2 29978 broad.mit.edu 37 X 56591074 56591074 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:56591074C>G ENST00000338222.5 + 1 1049 c.768C>G c.(766-768)agC>agG p.S256R NM_013444.3 NP_038472.2 Q9UHD9 UBQL2_HUMAN ubiquilin 2 256 cytoplasm|nucleus|plasma membrane binding p.S256R(1) breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1) 21 TGGCTCTTAGCAATCTAGAAA 0.483000 14 71 0 0 0.002450 0 0 NXPE3 91775 broad.mit.edu 37 3 101520396 101520396 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr3:101520396G>T ENST00000422132.1 + 2 608 c.411G>T c.(409-411)aaG>aaT p.K137N NXPE3_ENST00000491511.1_Missense_Mutation_p.K137N|NXPE3_ENST00000273347.5_Missense_Mutation_p.K137N|NXPE3_ENST00000477909.1_Missense_Mutation_p.K137N neurexophilin and PC-esterase domain family, member 3 p.K137N(1) GAAAGCCCAAGAAGTATGGTG 0.512000 11 65 3.86212e-05 5.36752e-05 0.000673 1 0 KIAA2026 158358 broad.mit.edu 37 9 5920648 5920648 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr9:5920648C>A ENST00000399933.3 - 8 5347 c.5348G>T c.(5347-5349)cGg>cTg p.R1783L KIAA2026_ENST00000381461.2_Missense_Mutation_p.R1753L NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 1783 p.R1783L(1)|p.R958L(1) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) GAGTGAAGTCCGAGATTGTCT 0.418000 116 487 3.35115e-56 8.49286e-56 0.003610 1 0 BRAF 673 broad.mit.edu 37 7 140453193 140453193 + Splice_Site SNP T T C rs121913370 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr7:140453193T>C ENST00000288602.6 - 15 1802 c.1741_splice c.e15-1 p.N581_splice NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 581 Protein kinase. N -> D (in CFC syndrome).|N -> S (in a colorectal adenocarcinoma sample; somatic mutation). 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.N581S(9)|p.N581I(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) AAGAAATATATCTGAGGTGTA 0.358000 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 8 76 0 0 0.006214 0 0 BIRC2 329 broad.mit.edu 37 11 102239138 102239138 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr11:102239138G>T ENST00000227758.2 + 6 2624 c.1225G>T c.(1225-1227)Gtg>Ttg p.V409L BIRC2_ENST00000530675.1_Missense_Mutation_p.V360L|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000532672.1_Missense_Mutation_p.V388L NM_001166.4|NM_001256163.1 NP_001157.1|NP_001243092.1 Q13490 BIRC2_HUMAN baculoviral IAP repeat containing 2 409 cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination CD40 receptor complex|cytosol|internal side of plasma membrane protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding p.V409L(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0144) TAGAGACCTGGTGAAACAAAC 0.363000 17 103 4.14922e-12 8.00427e-12 0.004007 1 0 EVL 51466 broad.mit.edu 37 14 100604129 100604129 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr14:100604129C>G ENST00000544450.2 + 11 1379 c.1096C>G c.(1096-1098)Cct>Gct p.P366A EVL_ENST00000402714.2_Missense_Mutation_p.P360A|EVL_ENST00000392920.3_Missense_Mutation_p.P362A Q9UI08 EVL_HUMAN Enah/Vasp-like 360 EVH2. actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis cytoskeleton|cytosol|focal adhesion|lamellipodium actin binding|profilin binding|SH3 domain binding p.P362A(1) cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2) 14 Melanoma(154;0.152) TCAGTCGCAGCCTCACTCTAG 0.607000 16 91 0 0 0.004007 0 0 OR2M7 391196 broad.mit.edu 37 1 248487446 248487446 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:248487446C>A ENST00000317965.2 - 1 453 c.425G>T c.(424-426)gGa>gTa p.G142V NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G142V(1) breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGTCATAAGTCCACAAATTTT 0.478000 74 297 1.8615e-32 4.60476e-32 0.003610 1 0 CCL4 6351 broad.mit.edu 37 17 34432678 34432678 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr17:34432678G>T ENST00000250151.4 + 3 568 c.252G>T c.(250-252)gaG>gaT p.E84D CCL4_ENST00000394495.1_Missense_Mutation_p.S46I NM_002984.2 NP_002975.1 P13236 CCL4_HUMAN chemokine (C-C motif) ligand 4 84 cell adhesion|cell-cell signaling|cellular component movement|chemotaxis|establishment or maintenance of cell polarity|immune response|inflammatory response|response to virus|viral genome replication extracellular space chemokine activity|receptor signaling protein tyrosine kinase activity p.E84D(1) endometrium(1)|large_intestine(1)|lung(2) 4 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGGTCCAGGAGTACGTGTATG 0.502000 17 122 1.56452e-12 3.04082e-12 0.007413 1 0 EWSR1 2130 broad.mit.edu 37 22 29664333 29664333 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr22:29664333C>T ENST00000397938.2 + 1 327 c.8C>T c.(7-9)tCc>tTc p.S3F EWSR1_ENST00000333395.6_Missense_Mutation_p.S3F|EWSR1_ENST00000332035.6_Missense_Mutation_p.S3F|EWSR1_ENST00000331029.7_Missense_Mutation_p.S3F|EWSR1_ENST00000414183.2_Missense_Mutation_p.S3F|EWSR1_ENST00000332050.6_Missense_Mutation_p.S3F|EWSR1_ENST00000406548.1_Missense_Mutation_p.S3F NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3 NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2 Q01844 EWS_HUMAN EWS RNA-binding protein 1 3 EAD (Gln/Pro/Thr-rich). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding p.S3F(2) EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AAAATGGCGTCCACGGGTGAG 0.632000 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 5 214 0 0 0.001168 0 0 CCDC173 129881 broad.mit.edu 37 2 170502572 170502572 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:170502572C>T ENST00000447353.1 - 9 1543 c.1438G>A c.(1438-1440)Gaa>Aaa p.E480K NM_001085447.1 NP_001078916.1 coiled-coil domain containing 173 p.E474K(1) GATTCAAGTTCAATTACCTCT 0.413000 9 397 0 0 0.004482 0 0 OR51E2 81285 broad.mit.edu 37 11 4703764 4703764 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr11:4703764G>A ENST00000396950.3 - 2 417 c.178C>T c.(178-180)Ctc>Ttc p.L60F NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L60F(1) NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) CAGAGAAAGAGGTACATCGGA 0.507000 18 73 0 0 0.004990 0 0 AIFM1 9131 broad.mit.edu 37 X 129271088 129271088 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:129271088T>A ENST00000287295.3 - 10 1270 c.1040A>T c.(1039-1041)tAc>tTc p.Y347F AIFM1_ENST00000346424.2_Missense_Mutation_p.Y60F|AIFM1_ENST00000440263.1_5'UTR|AIFM1_ENST00000460436.2_Missense_Mutation_p.Y8F|AIFM1_ENST00000319908.3_Missense_Mutation_p.Y343F|AIFM1_ENST00000535724.1_3'UTR NM_001130847.3|NM_004208.3 NP_001124319.1|NP_004199.1 O95831 AIFM1_HUMAN apoptosis-inducing factor, mitochondrion-associated, 1 347 FAD-dependent oxidoreductase (By similarity). activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding p.Y347F(1)|p.Y343F(1) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 GTTGCTGAGGTATTCGGGGAG 0.468000 32 150 0 0 0.004878 0 0 HAUS7 55559 broad.mit.edu 37 X 152720441 152720441 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:152720441G>T ENST00000370212.3 - 9 1030 c.1031C>A c.(1030-1032)cCc>cAc p.P344H TREX2_ENST00000370232.1_Intron|HAUS7_ENST00000370211.4_Intron|HAUS7_ENST00000421080.2_3'UTR|HAUS7_ENST00000484394.1_5'UTR|HAUS7_ENST00000370219.3_Intron|TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000338525.2_Intron|TREX2_ENST00000334497.2_Intron Q99871 HAUS7_HUMAN HAUS augmin-like complex, subunit 7 312 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle thioesterase binding p.P344H(1) endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3) 19 TTGAGCCAAGGGCAGAGTTGC 0.517000 21 101 1.28384e-07 2.06774e-07 0.001882 1 0 FSCB 84075 broad.mit.edu 37 14 44975985 44975985 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr14:44975985G>T ENST00000340446.4 - 1 497 c.206C>A c.(205-207)aCt>aAt p.T69N NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 69 cilium p.T69N(1) breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) AGACTTACTAGTCATTTCCTG 0.423000 27 129 7.92952e-12 1.51275e-11 0.003954 1 0 APOL4 80832 broad.mit.edu 37 22 36587606 36587606 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr22:36587606G>C ENST00000332987.1 - 7 983 c.561C>G c.(559-561)atC>atG p.I187M APOL4_ENST00000352371.1_Missense_Mutation_p.I190M|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000479929.1_5'UTR Q9BPW4 APOL4_HUMAN apolipoprotein L, 4 191 lipid metabolic process|lipid transport|lipoprotein metabolic process extracellular region lipid binding p.I190M(1) lung(1) 1 TGTTCTCCACGATGCTGGAGG 0.547000 10 23 0 0 0.006214 0 0 PTPLAD1 51495 broad.mit.edu 37 15 65847232 65847232 + Silent SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr15:65847232A>T ENST00000261875.5 + 3 304 c.138A>T c.(136-138)ggA>ggT p.G46G PTPLAD1_ENST00000562901.1_5'UTR|PTPLAD1_ENST00000569894.1_5'UTR|PTPLAD1_ENST00000442729.2_Silent_p.G46G|PTPLAD1_ENST00000566511.1_5'UTR|PTPLAD1_ENST00000568793.1_Silent_p.G21G|PTPLAD1_ENST00000566074.1_5'UTR|PTPLAD1_ENST00000565299.1_Silent_p.G84G NM_016395.2 NP_057479.2 Q9P035 HACD3_HUMAN protein tyrosine phosphatase-like A domain containing 1 46 CS. activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction endoplasmic reticulum membrane|integral to membrane GTPase activator activity|lyase activity|protein binding p.G46G(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1) 5 TAGCTCAAGGACATGGTGCCA 0.438000 27 198 0 0 0.005443 0 0 WNT5A 7474 broad.mit.edu 37 3 55504433 55504433 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr3:55504433C>A ENST00000474267.1 - 6 1351 c.830G>T c.(829-831)cGg>cTg p.R277L WNT5A_ENST00000264634.4_Missense_Mutation_p.R277L|WNT5A_ENST00000497027.1_Missense_Mutation_p.R262L P41221 WNT5A_HUMAN wingless-type MMTV integration site family, member 5A 277 activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.R370L(1) breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204) GCTGTTGAGCCGCATGGCCGC 0.612000 3 18 0.00024832 0.000330029 0.000248 1 0 NLGN4X 57502 broad.mit.edu 37 X 5821398 5821398 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:5821398C>A ENST00000381095.3 - 5 1948 c.1321G>T c.(1321-1323)Gtg>Ttg p.V441L NLGN4X_ENST00000275857.6_Missense_Mutation_p.V441L|NLGN4X_ENST00000381092.1_Missense_Mutation_p.V441L|NLGN4X_ENST00000381093.2_Missense_Mutation_p.V461L|NLGN4X_ENST00000538097.1_Missense_Mutation_p.V441L NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 441 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity p.V441L(1) breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 AAGAGAGCCACCAGGGTTTTC 0.597000 16 57 6.49762e-13 1.28708e-12 0.006122 1 0 DLK1 8788 broad.mit.edu 37 14 101200835 101200835 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr14:101200835C>T ENST00000341267.4 + 5 996 c.754C>T c.(754-756)Ccc>Tcc p.P252S DLK1_ENST00000331224.6_Intron NM_003836.5 NP_003827.3 P80370 DLK1_HUMAN delta-like 1 homolog (Drosophila) 252 multicellular organismal development extracellular space|integral to membrane|soluble fraction p.P252S(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1) 29 Melanoma(154;0.155) CGCGCTGAGCCCCCAGCAGGT 0.677000 12 58 0 0 0.001855 0 0 KCNH2 3757 broad.mit.edu 37 7 150644045 150644045 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr7:150644045G>T ENST00000392968.2 - 12 4082 c.2962C>A c.(2962-2964)Ccg>Acg p.P988T KCNH2_ENST00000330883.4_Missense_Mutation_p.P744T|KCNH2_ENST00000262186.5_Missense_Mutation_p.P1084T Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 1084 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity p.P1084T(1) NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CCAGGCCCCGGGGTGGTCACA 0.662000 18 97 8.34094e-07 1.24993e-06 0.001216 1 0 NUP210 23225 broad.mit.edu 37 3 13417095 13417095 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr3:13417095T>A ENST00000254508.5 - 11 1422 c.1340A>T c.(1339-1341)gAg>gTg p.E447V NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 447 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore p.E447G(1)|p.E447V(1) NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) AATTTCCACCTCCTGCTGGTT 0.527000 27 121 0 0 0.002096 0 0 BRPF3 27154 broad.mit.edu 37 6 36196766 36196766 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr6:36196766G>T ENST00000357641.6 + 12 3620 c.3367G>T c.(3367-3369)Gag>Tag p.E1123* BRPF3_ENST00000534400.1_Missense_Mutation_p.R1090I|BRPF3_ENST00000443324.2_Nonsense_Mutation_p.E789*|BRPF3_ENST00000339717.7_Nonsense_Mutation_p.E853*|BRPF3_ENST00000534694.1_Nonsense_Mutation_p.E789*|BRPF3_ENST00000543502.1_Nonsense_Mutation_p.E853* NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 1123 PWWP. histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding p.E1123*(1) breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 GAAGCTGGGAGAGCAGAAACA 0.602000 27 63 2.79863e-10 5.04144e-10 0.004656 1 0 CSMD3 114788 broad.mit.edu 37 8 114186001 114186001 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr8:114186001G>T ENST00000297405.5 - 4 903 c.659C>A c.(658-660)gCc>gAc p.A220D CSMD3_ENST00000343508.3_Missense_Mutation_p.A180D|CSMD3_ENST00000352409.3_Missense_Mutation_p.A220D|CSMD3_ENST00000455883.2_Missense_Mutation_p.A220D|CSMD3_ENST00000519485.1_5'UTR NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 220 Sushi 1. integral to membrane|plasma membrane p.A220D(1)|p.A180D(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AACTGAATTGGCTATGCAGGT 0.428000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 20 99 1.10513e-12 2.18074e-12 0.002299 1 0 POM121L12 285877 broad.mit.edu 37 7 53103500 53103500 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr7:53103500C>A ENST00000408890.4 + 1 152 c.136C>A c.(136-138)Ccc>Acc p.P46T NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 46 p.P46T(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CACGCCATCTCCCCAGGGTCG 0.677000 10 39 1.08611e-07 1.75474e-07 0.000978 1 0 ACTG2 72 broad.mit.edu 37 2 74146648 74146648 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:74146648C>A ENST00000409624.1 + 10 1720 c.1077C>A c.(1075-1077)agC>agA p.S359R ACTG2_ENST00000345517.3_Missense_Mutation_p.S359R|ACTG2_ENST00000409731.3_Missense_Mutation_p.S316R P63267 ACTH_HUMAN actin, gamma 2, smooth muscle, enteric 359 muscle contraction cytoskeleton|cytosol ATP binding p.S359R(1) large_intestine(3)|lung(14)|skin(1) 18 TGTGGATCAGCAAGCCTGAGT 0.532000 27 80 8.24728e-16 1.75467e-15 0.004656 1 0 MAGEA4 4103 broad.mit.edu 37 X 151092221 151092221 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:151092221C>A ENST00000370340.3 + 3 352 c.85C>A c.(85-87)Cag>Aag p.Q29K MAGEA4_ENST00000393920.1_Missense_Mutation_p.Q29K|MAGEA4_ENST00000276344.2_Missense_Mutation_p.Q29K|MAGEA4_ENST00000393921.1_Missense_Mutation_p.Q29K|MAGEA4_ENST00000370335.1_Missense_Mutation_p.Q29K|MAGEA4_ENST00000360243.2_Missense_Mutation_p.Q29K|MAGEA4_ENST00000370337.4_Missense_Mutation_p.Q29K P43358 MAGA4_HUMAN melanoma antigen family A, 4 29 protein binding p.Q29K(1) breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) GGTGGGTGCACAGGCTCCTAC 0.612000 23 80 2.89027e-11 5.41402e-11 0.002299 1 0 FAM47A 158724 broad.mit.edu 37 X 34148514 34148514 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:34148514G>A ENST00000346193.3 - 1 1933 c.1882C>T c.(1882-1884)Ctg>Ttg p.L628L NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 628 p.L628L(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 AAGTCAAACAGATTCCTGATG 0.443000 21 85 0 0 0.001216 0 0 STX2 2054 broad.mit.edu 37 12 131293251 131293251 + Splice_Site SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr12:131293251T>A ENST00000261653.6 - 5 447 c.e5-2 STX2_ENST00000392373.2_Splice_Site NM_001980.3 NP_001971.2 P32856 STX2_HUMAN syntaxin 2 acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction basolateral plasma membrane|integral to membrane|microsome|soluble fraction calcium-dependent protein binding|SNAP receptor activity p.?(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1) 16 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05) GTTCAATAGCTAGGAACAAAT 0.353000 51 226 0 0 0.003610 0 0 UVSSA 57654 broad.mit.edu 37 4 1343559 1343559 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr4:1343559G>T ENST00000389851.4 + 3 793 c.346G>T c.(346-348)Gcc>Tcc p.A116S UVSSA_ENST00000507531.1_Missense_Mutation_p.A116S|UVSSA_ENST00000511216.1_Missense_Mutation_p.A116S NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 116 p.A116S(1) GACCACCCGGGCCGTGGAAGG 0.632000 9 46 9.70103e-10 1.70593e-09 0.000673 1 0 WSB1 26118 broad.mit.edu 37 17 25630509 25630509 + Missense_Mutation SNP T T C rs142114425 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr17:25630509T>C ENST00000262394.2 + 3 642 c.326T>C c.(325-327)aTa>aCa p.I109T WSB1_ENST00000348811.2_Intron|WSB1_ENST00000427287.2_Missense_Mutation_p.I78T|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000579733.1_Intron|WSB1_ENST00000581185.1_Missense_Mutation_p.I109T NM_015626.8 NP_056441.6 Q9Y6I7 WSB1_HUMAN WD repeat and SOCS box containing 1 109 intracellular signal transduction intracellular protein binding p.I109T(1) lung(3) 3 all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152) BRCA - Breast invasive adenocarcinoma(3;0.0152) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) TGTGGAGATATAGTCTGGAGT 0.383000 32 123 0 0 0.002445 0 0 ASB5 140458 broad.mit.edu 37 4 177142368 177142368 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr4:177142368G>A ENST00000296525.3 - 5 721 c.608C>T c.(607-609)aCt>aTt p.T203I ASB5_ENST00000512254.1_Missense_Mutation_p.T150I NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 203 intracellular signal transduction p.T203I(1) endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) ATAGAGAGGAGTTCCCAAATG 0.408000 20 65 0 0 0.001216 0 0 ZBTB33 10009 broad.mit.edu 37 X 119387450 119387450 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:119387450C>A ENST00000326624.2 + 2 408 c.180C>A c.(178-180)ctC>ctA p.L60L ZBTB33_ENST00000557385.1_Silent_p.L60L NM_006777.3 NP_006768.1 Q86T24 KAISO_HUMAN zinc finger and BTB domain containing 33 60 BTB.|Interaction with NCOR1.|Self-association (By similarity). intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding p.L60L(1) breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 26 TCCATCAGCTCTTCTCTGTTG 0.393000 53 303 4.88506e-25 1.18572e-24 0.003610 1 0 RAVER1 125950 broad.mit.edu 37 19 10444193 10444193 + Silent SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr19:10444193C>T ENST00000293677.6 - 1 123 c.42G>A c.(40-42)ggG>ggA p.G14G NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 0 cytoplasm|nucleus nucleotide binding|protein binding|RNA binding p.G14G(1) breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) TCTTGGGAAACCCGGCGCCTT 0.716000 3 22 0 0 0.004672 0 0 LOC220729 220729 broad.mit.edu 37 3 197348668 197348668 + RNA SNP C C G rs79940815 by1000genomes TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr3:197348668C>G ENST00000418868.1 - 0 591 NR_003266.2 ACTTGAGGCTCTGTCCACCAA 0.488000 3 74 0 0 0.000602 0 0 CSMD1 64478 broad.mit.edu 37 8 3076867 3076867 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr8:3076867C>G ENST00000520002.1 - 30 5140 c.4585G>C c.(4585-4587)Gaa>Caa p.E1529Q CSMD1_ENST00000539096.1_Missense_Mutation_p.E1528Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.E1528Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.E1529Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.E1528Q|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Missense_Mutation_p.E1529Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.E1529Q Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1529 CUB 9. integral to membrane p.E1528Q(1)|p.E1257Q(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCTATTCTTTCTGGGGCCTGA 0.498000 2 3 0 0 0.004672 0 0 TAF1A 9015 broad.mit.edu 37 1 222736579 222736579 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:222736579C>A ENST00000350027.4 - 9 1174 c.1021G>T c.(1021-1023)Gga>Tga p.G341* TAF1A_ENST00000352967.4_Nonsense_Mutation_p.G341*|TAF1A_ENST00000366890.1_Nonsense_Mutation_p.G227*|TAF1A_ENST00000391882.1_Nonsense_Mutation_p.G227* NM_001201536.1 NP_001188465.1 Q15573 TAF1A_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa 341 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter RNA polymerase I transcription factor complex DNA binding p.G341*(1) kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1) 18 GBM - Glioblastoma multiforme(131;0.0186) TTAGTGCATCCGGCAAAATCT 0.333000 12 58 1.08611e-07 1.75474e-07 0.000978 1 0 YTHDC1 91746 broad.mit.edu 37 4 69195782 69195782 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr4:69195782C>A ENST00000344157.4 - 9 1622 c.1287G>T c.(1285-1287)gtG>gtT p.V429V YTHDC1_ENST00000579690.1_Silent_p.V429V|YTHDC1_ENST00000355665.3_Silent_p.V411V NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 429 YTH. p.V429V(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 CTGCTGGAAGCACCCAGTGTA 0.353000 19 97 1.56452e-12 3.04082e-12 0.007413 1 0 MAPK8IP1 9479 broad.mit.edu 37 11 45924235 45924235 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr11:45924235G>T ENST00000395629.2 + 5 1217 c.887G>T c.(886-888)cGg>cTg p.R296L MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.R306L Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting protein 1 306 vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity p.R306L(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2) 24 GBM - Glioblastoma multiforme(35;0.231) ACTGAGAGCCGGATGTCAGTC 0.667000 5 36 1.23904e-05 1.75985e-05 0.000602 1 0 BTBD8 284697 broad.mit.edu 37 1 92554451 92554451 + Splice_Site SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:92554451C>T ENST00000370382.3 + 2 613 c.347_splice c.e2+1 p.Q116_splice BTBD8_ENST00000540648.1_Splice_Site_p.Q116_splice|BTBD8_ENST00000342818.3_Splice_Site_p.Q116_splice Q5XKL5 BTBD8_HUMAN BTB (POZ) domain containing 8 116 BTB 1. nucleus p.Q116*(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1) 16 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) AACGTTTTTACAGTAAGTGCT 0.274000 7 49 0 0 0.001984 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220406195 220406195 + Silent SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:220406195T>C ENST00000358951.2 - 2 242 c.126A>G c.(124-126)acA>acG p.T42T NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 42 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity p.T42T(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) CTTCCCAGTCTGTTGATTTAC 0.338000 13 94 0 0 0.001855 0 0 DNAH9 1770 broad.mit.edu 37 17 11592912 11592912 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr17:11592912T>A ENST00000262442.3 + 20 3841 c.3773T>A c.(3772-3774)cTg>cAg p.L1258Q DNAH9_ENST00000454412.2_Missense_Mutation_p.L1258Q NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1258 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.L1258Q(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CATCAAATGCTGGATGCCAGG 0.483000 42 83 0 0 0.002522 0 0 TNXB 7148 broad.mit.edu 37 6 32035686 32035686 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr6:32035686C>A ENST00000375244.3 - 18 6497 c.6296G>T c.(6295-6297)gGg>gTg p.G2099V TNXB_ENST00000375247.2_Missense_Mutation_p.G2099V P22105 TENX_HUMAN tenascin XB 2171 Fibronectin type-III 13. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.G2099V(1)|p.G2186V(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TGTTAGCTCCCCCAGGAGCGG 0.647000 45 87 6.21074e-16 1.33235e-15 0.002852 1 0 HYDIN 54768 broad.mit.edu 37 16 70977730 70977730 + Silent SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr16:70977730C>T ENST00000393567.2 - 42 6804 c.6654G>A c.(6652-6654)ctG>ctA p.L2218L NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2218 p.L2217L(1)|p.L2169L(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TCCGCTCTGCCAGGATCTGCA 0.627000 9 46 0 0 0.000673 0 0 USP29 57663 broad.mit.edu 37 19 57641649 57641649 + Missense_Mutation SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr19:57641649A>G ENST00000254181.4 + 4 2060 c.1606A>G c.(1606-1608)Agt>Ggt p.S536G USP29_ENST00000598197.1_Missense_Mutation_p.S536G NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 536 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAAATCTTTAAGTTTATCTTC 0.423000 3 247 0 0 0.004672 0 0 UNC45B 146862 broad.mit.edu 37 17 33513323 33513323 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr17:33513323C>A ENST00000268876.5 + 20 2638 c.2541C>A c.(2539-2541)acC>acA p.T847T UNC45B_ENST00000591048.1_Silent_p.T766T|UNC45B_ENST00000433649.1_Silent_p.T845T|UNC45B_ENST00000378449.1_Silent_p.T766T|UNC45B_ENST00000394570.2_Silent_p.T845T NM_173167.2 NP_775259.1 Q8IWX7 UN45B_HUMAN unc-45 homolog B (C. elegans) 847 cell differentiation|muscle organ development cytosol binding p.T847T(2) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) TCCAGACAACCCAGTGGTTGG 0.557000 14 68 7.93312e-07 1.19575e-06 0.002450 1 0 SPATA31D5P 347127 broad.mit.edu 37 9 84531794 84531794 + RNA SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr9:84531794T>A ENST00000527857.1 + 0 1816 NR_026851.1 ATCCCAGCCCTACTACCTAGT 0.502000 16 30 0 0 0.003163 0 0 PCNT 5116 broad.mit.edu 37 21 47783460 47783460 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr21:47783460G>A ENST00000359568.5 + 14 2327 c.2220G>A c.(2218-2220)ctG>ctA p.L740L PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 740 Glu-rich. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding p.L740L(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) AGACTGAGCTGATGAAACAGG 0.388000 39 137 0 0 0.004289 0 0 GPHB5 122876 broad.mit.edu 37 14 63784422 63784422 + RNA SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr14:63784422G>T ENST00000539258.1 - 0 198 Q86YW7 GPHB5_HUMAN glycoprotein hormone beta 5 extracellular region hormone activity p.P48T(2) breast(1)|endometrium(1)|lung(4)|urinary_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978) CTGCAGCCTGGCTTCTTGGCC 0.597000 8 40 5.18039e-06 7.56571e-06 0.003080 1 0 ELOVL2 54898 broad.mit.edu 37 6 10995243 10995243 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr6:10995243G>T ENST00000354666.3 - 5 585 c.502C>A c.(502-504)Caa>Aaa p.Q168K NM_017770.3 NP_060240.3 Q9NXB9 ELOV2_HUMAN ELOVL fatty acid elongase 2 168 fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding p.Q168K(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2) 14 Breast(50;0.0418)|Ovarian(93;0.0919) all_hematologic(90;0.117) Epithelial(50;0.176) AACTTACTTTGTCCACAAGGT 0.383000 25 151 6.32553e-13 1.26266e-12 0.004656 1 0 SYN3 8224 broad.mit.edu 37 22 33260992 33260992 + Splice_Site SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr22:33260992C>A ENST00000358763.2 - 6 864 c.e6-1 SYN3_ENST00000332840.5_Splice_Site NM_001135774.1 NP_001129246.1 O14994 SYN3_HUMAN synapsin III neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity p.?(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 GCTGAGAGAACTAGGATAGAA 0.473000 25 150 6.12954e-19 1.3899e-18 0.004656 1 0 FAT4 79633 broad.mit.edu 37 4 126370833 126370833 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr4:126370833G>C ENST00000394329.3 + 9 8675 c.8662G>C c.(8662-8664)Ggc>Cgc p.G2888R FAT4_ENST00000335110.5_Missense_Mutation_p.G1186R NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2888 Cadherin 28. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G2888R(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TACTGAGATTGGCTCCAAAGT 0.353000 17 124 0 0 0.006122 0 0 KIAA1210 57481 broad.mit.edu 37 X 118220782 118220782 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:118220782C>T ENST00000402510.2 - 11 4410 c.4411G>A c.(4411-4413)Gat>Aat p.D1471N NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1471 p.D1295N(1)|p.D1471N(1) breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 TTTTCAACATCATCCTGATTG 0.438000 4 79 0 0 0.000248 0 0 RYR2 6262 broad.mit.edu 37 1 237656342 237656342 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:237656342G>T ENST00000366574.2 + 19 2233 c.1916G>T c.(1915-1917)gGa>gTa p.G639V RYR2_ENST00000542537.1_Missense_Mutation_p.G623V|RYR2_ENST00000360064.6_Missense_Mutation_p.G637V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 639 B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.G637V(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTCCTACCAGGAAGAGACTTG 0.438000 8 31 0.00307968 0.0038929 0.003080 1 0 IL6R 3570 broad.mit.edu 37 1 154422457 154422457 + Splice_Site SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:154422457G>A ENST00000368485.3 + 8 1503 c.e8+1 IL6R_ENST00000344086.4_Splice_Site|IL6R_ENST00000507256.1_Splice_Site NM_000565.3 NP_000556.1 P08887 IL6RA_HUMAN interleukin 6 receptor acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity p.?(1) IL6R/ATP8B2(2) breast(2)|large_intestine(1)|ovary(3) 6 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AGCCTCCCAGGTAAGGACTGG 0.433000 4 83 0 0 0.000248 0 0 PC 5091 broad.mit.edu 37 11 66631269 66631269 + Silent SNP C C A rs148281644 byFrequency TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr11:66631269C>A ENST00000393960.1 - 12 1625 c.1344G>T c.(1342-1344)gcG>gcT p.A448A PC_ENST00000524491.1_Silent_p.A408A|PC_ENST00000393958.2_Silent_p.A448A|PC_ENST00000393955.2_Silent_p.A448A|PC_ENST00000355677.3_Silent_p.A448A NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 448 Biotin carboxylation. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity p.A448A(1) cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CGCGGAACTCCGCAAGGGCCC 0.662000 31 177 1.88708e-17 4.18722e-17 0.001512 1 0 ACRC 93953 broad.mit.edu 37 X 70824043 70824043 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:70824043G>T ENST00000373695.1 + 7 1453 c.916G>T c.(916-918)Gac>Tac p.D306Y ACRC_ENST00000373696.3_Missense_Mutation_p.D306Y Q96QF7 ACRC_HUMAN acidic repeat containing 306 Asp/Ser-rich. nucleus p.D306Y(1) autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) GGAAGCTCCCGACGACAAGAG 0.512000 46 264 2.77807e-22 6.61872e-22 0.003214 1 0 ARHGEF15 22899 broad.mit.edu 37 17 8221720 8221720 + Missense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr17:8221720A>T ENST00000361926.3 + 10 1830 c.1720A>T c.(1720-1722)Aca>Tca p.T574S ARHGEF15_ENST00000421050.1_Missense_Mutation_p.T574S|AC135178.7_ENST00000458568.1_RNA NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 574 DH. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.T574S(1) breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 CCTGCGCCAGACAGAAGAGGG 0.632000 15 141 0 0 0.004990 0 0 KRTAP15-1 254950 broad.mit.edu 37 21 31812741 31812741 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr21:31812741C>G ENST00000334067.3 + 1 145 c.96C>G c.(94-96)agC>agG p.S32R NM_181623.1 NP_853654.1 Q3LI76 KR151_HUMAN keratin associated protein 15-1 32 intermediate filament p.S32R(1) kidney(1)|large_intestine(3)|lung(6)|skin(1) 11 TCTACCCCAGCAATGCCATCT 0.478000 18 96 0 0 0.004990 0 0 BLK 640 broad.mit.edu 37 8 11414294 11414294 + Silent SNP C C T rs139994406 by1000genomes TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr8:11414294C>T ENST00000259089.4 + 9 1492 c.900C>T c.(898-900)taC>taT p.Y300Y BLK_ENST00000529894.1_Silent_p.Y229Y|RP11-148O21.4_ENST00000528629.1_RNA NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 300 Protein kinase. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity p.Y300Y(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) TCCGACTCTACGCAGTGGTCA 0.617000 8 35 0 0 0.003080 0 0 MAP3K19 80122 broad.mit.edu 37 2 135779380 135779380 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:135779380G>T ENST00000375845.3 - 2 73 c.43C>A c.(43-45)Ctt>Att p.L15I MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392915.1_Missense_Mutation_p.L32I|MAP3K19_ENST00000375844.3_Missense_Mutation_p.L15I|MAP3K19_ENST00000392917.3_Missense_Mutation_p.L15I|MAP3K19_ENST00000392918.3_Missense_Mutation_p.L15I|MAP3K19_ENST00000358371.4_Missense_Mutation_p.L15I NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 p.L15I(1) CAAATGTCAAGCAATGACTCA 0.338000 10 63 1.08611e-07 1.75474e-07 0.000978 1 0 NLRP12 91662 broad.mit.edu 37 19 54310879 54310879 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr19:54310879G>C ENST00000324134.6 - 4 2281 c.2113C>G c.(2113-2115)Ctg>Gtg p.L705V NLRP12_ENST00000345770.5_Missense_Mutation_p.L706V|NLRP12_ENST00000391775.3_Missense_Mutation_p.L705V|NLRP12_ENST00000535162.1_Missense_Mutation_p.L705V|NLRP12_ENST00000391773.1_Missense_Mutation_p.L706V|NLRP12_ENST00000351894.4_Missense_Mutation_p.L705V|NLRP12_ENST00000391772.1_Missense_Mutation_p.L706V|NLRP12_ENST00000354278.3_Missense_Mutation_p.L705V NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 705 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding p.L705V(1) NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GCCGCTGCCAGATGTTCACTG 0.562000 11 35 0 0 0.001855 0 0 OR4A47 403253 broad.mit.edu 37 11 48510784 48510784 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr11:48510784G>T ENST00000446524.1 + 1 516 c.440G>T c.(439-441)tGg>tTg p.W147L NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.W147F(1) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 GTAGTGTCCTGGGTTGGAGGA 0.438000 22 98 1.96292e-10 3.56081e-10 0.001523 1 0 CPED1 79974 broad.mit.edu 37 7 120782149 120782149 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr7:120782149C>A ENST00000310396.5 + 16 2476 c.2009C>A c.(2008-2010)cCa>cAa p.P670Q CPED1_ENST00000423795.1_Missense_Mutation_p.P450Q|CPED1_ENST00000450913.2_Missense_Mutation_p.P670Q NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 p.P670Q(1) GAAGACCGCCCAAGTCTGCCC 0.433000 31 156 4.15321e-07 6.5067e-07 0.001786 1 0 PEAK1 79834 broad.mit.edu 37 15 77471208 77471208 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr15:77471208C>A ENST00000560626.2 - 4 3536 c.3061G>T c.(3061-3063)Gag>Tag p.E1021* PEAK1_ENST00000312493.4_Nonsense_Mutation_p.E1021*|PEAK1_ENST00000558305.1_Nonsense_Mutation_p.E1021* Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1021 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.E1021Q(2)|p.E1021*(2) AATGCATTCTCTGCTCTACCC 0.468000 9 63 0.00448238 0.00562474 0.004482 1 0 TEX11 56159 broad.mit.edu 37 X 69902602 69902602 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:69902602G>T ENST00000395889.2 - 15 1278 c.1123C>A c.(1123-1125)Ctg>Atg p.L375M TEX11_ENST00000374333.2_Missense_Mutation_p.L360M|TEX11_ENST00000374320.2_Missense_Mutation_p.L50M|TEX11_ENST00000344304.3_Missense_Mutation_p.L375M NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 375 protein binding p.L360M(1) breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) TGGAGTATCAGAACTTTTCCA 0.358000 14 45 9.31168e-06 1.34099e-05 0.001855 1 0 PI4KA 5297 broad.mit.edu 37 22 21178643 21178643 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr22:21178643C>A ENST00000255882.6 - 4 513 c.427G>T c.(427-429)Gcc>Tcc p.A143S PI4KA_ENST00000572273.1_Missense_Mutation_p.A85S NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 85 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding p.A85S(2) breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) TCCCTATAGGCCACATCAGAC 0.433000 6 59 0.00307968 0.0038929 0.003080 1 0 ARSF 416 broad.mit.edu 37 X 3002590 3002590 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:3002590C>A ENST00000381127.1 + 6 934 c.713C>A c.(712-714)aCg>aAg p.T238K ARSF_ENST00000359361.2_Missense_Mutation_p.T238K|ARSF_ENST00000537104.1_Missense_Mutation_p.T238K NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 238 extracellular region arylsulfatase activity|metal ion binding p.T238K(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCCAGCCACACGTCCCCTTTA 0.547000 14 129 3.41278e-10 6.12642e-10 0.004990 1 0 GRIN2A 2903 broad.mit.edu 37 16 10031860 10031860 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr16:10031860G>A ENST00000396573.2 - 4 1272 c.963C>T c.(961-963)taC>taT p.Y321Y GRIN2A_ENST00000535259.1_Silent_p.Y164Y|GRIN2A_ENST00000396575.2_Silent_p.Y321Y|GRIN2A_ENST00000562109.1_Silent_p.Y321Y|GRIN2A_ENST00000330684.3_Silent_p.Y321Y|GRIN2A_ENST00000404927.2_Silent_p.Y321Y NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 321 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 p.Y321Y(2) 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) CCATCTGCCCGTAGCAGCTGG 0.562000 8 50 0 0 0.003080 0 0 FRMD7 90167 broad.mit.edu 37 X 131212510 131212510 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:131212510C>A ENST00000298542.4 - 12 1710 c.1535G>T c.(1534-1536)aGa>aTa p.R512I FRMD7_ENST00000370879.1_Missense_Mutation_p.R392I|FRMD7_ENST00000464296.1_Missense_Mutation_p.R497I NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 512 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding p.R512I(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) TTCCTCTGCTCTAATTGGGGA 0.483000 58 239 2.14255e-21 5.05798e-21 0.003610 1 0 C5orf24 134553 broad.mit.edu 37 5 134190862 134190862 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr5:134190862G>T ENST00000394976.3 + 2 500 c.272G>T c.(271-273)gGc>gTc p.G91V C5orf24_ENST00000504727.1_Missense_Mutation_p.G91V|C5orf24_ENST00000338051.4_Missense_Mutation_p.G91V|C5orf24_ENST00000435259.2_Missense_Mutation_p.G91V NM_001135586.1 NP_001129058.1 Q7Z6I8 CE024_HUMAN chromosome 5 open reading frame 24 91 p.G91V(1) breast(2)|endometrium(2)|lung(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGTAAGCGTGGCCGGCCTTCG 0.478000 17 80 8.28177e-16 1.75479e-15 0.007413 1 0 CCDC33 80125 broad.mit.edu 37 15 74573106 74573106 + Silent SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr15:74573106C>T ENST00000321288.5 + 11 1596 c.1596C>T c.(1594-1596)ggC>ggT p.G532G CCDC33_ENST00000398814.3_Silent_p.G329G Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 532 protein binding p.G329G(1)|p.G532G(1) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CAGGGAAAGGCTTGGACGGGC 0.642000 10 56 0 0 0.001855 0 0 FOCAD 54914 broad.mit.edu 37 9 20946798 20946798 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr9:20946798G>T ENST00000380249.1 + 32 4018 c.3654G>T c.(3652-3654)ctG>ctT p.L1218L FOCAD_ENST00000605086.1_Silent_p.L654L|FOCAD_ENST00000338382.6_Silent_p.L1218L NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1218 integral to membrane binding p.L1218L(1) AGCTTCGACTGTTAGTGGAGA 0.453000 21 90 8.10497e-08 1.32604e-07 0.001523 1 0 ADAM23 8745 broad.mit.edu 37 2 207460798 207460798 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:207460798C>A ENST00000264377.3 + 24 2599 c.2271C>A c.(2269-2271)tgC>tgA p.C757* ADAM23_ENST00000374416.1_Nonsense_Mutation_p.C757*|ADAM23_ENST00000374415.3_Nonsense_Mutation_p.C757* NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 757 EGF-like. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.C757*(2) NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) AAGCCACCTGCATTTGTGATT 0.433000 8 49 3.09899e-07 4.88468e-07 0.004482 1 0 COL9A1 1297 broad.mit.edu 37 6 70970395 70970395 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr6:70970395C>A ENST00000357250.6 - 20 1572 c.1414G>T c.(1414-1416)Ggc>Tgc p.G472C COL9A1_ENST00000370499.4_Missense_Mutation_p.G229C|COL9A1_ENST00000320755.7_Missense_Mutation_p.G229C|COL9A1_ENST00000489611.1_5'UTR NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 472 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding p.G472C(1)|p.G229C(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 CCGGTGATGCCTCGCAAACCC 0.353000 5 22 0.000157383 0.000211894 0.003080 1 0 IL17B 27190 broad.mit.edu 37 5 148753957 148753957 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr5:148753957G>T ENST00000261796.3 - 3 568 c.518C>A c.(517-519)gCt>gAt p.A173D RP11-394O4.3_ENST00000521756.1_RNA|IL17B_ENST00000505432.1_5'UTR NM_014443.2 NP_055258.1 Q9UHF5 IL17B_HUMAN interleukin 17B 173 cell-cell signaling|immune response|inflammatory response extracellular space cytokine activity|signal transducer activity p.A173D(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGCCCACAGCGATGGTCTC 0.657000 11 36 1.36491e-13 2.77818e-13 0.001855 1 0 AHNAK2 113146 broad.mit.edu 37 14 105419467 105419467 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr14:105419467T>C ENST00000333244.5 - 7 2440 c.2321A>G c.(2320-2322)aAg>aGg p.K774R AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 774 nucleus p.K774R(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTTGGGGCCCTTGAGGTCCAC 0.632000 46 275 0 0 0.003610 0 0 PLXNA3 55558 broad.mit.edu 37 X 153694526 153694526 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:153694526C>A ENST00000369682.3 + 15 2887 c.2712C>A c.(2710-2712)ccC>ccA p.P904P NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 904 IPT/TIG 1. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity p.P904P(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CGCTGGTGCCCAGCCCGCCGC 0.682000 14 77 1.37285e-15 2.87354e-15 0.004007 1 0 RANBP2 5903 broad.mit.edu 37 2 109383771 109383771 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:109383771G>T ENST00000283195.6 + 20 6902 c.6776G>T c.(6775-6777)cGt>cTt p.R2259L NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 2259 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding p.R2259L(2) RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 AATCTTTTCCGTTTTGGTGAG 0.408000 80 507 4.21487e-37 1.0527e-36 0.003610 1 0 MOSPD2 158747 broad.mit.edu 37 X 14915215 14915215 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:14915215G>T ENST00000380492.3 + 5 420 c.332G>T c.(331-333)aGg>aTg p.R111M MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Missense_Mutation_p.R111M NM_001177475.1|NM_152581.3 NP_001170946.1|NP_689794.1 Q8NHP6 MSPD2_HUMAN motile sperm domain containing 2 111 CRAL-TRIO. integral to membrane structural molecule activity p.R111M(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(33;0.183) GTCTGGATCAGGGTGAAGTAT 0.328000 15 97 1.05317e-09 1.83949e-09 0.002450 1 0 CSRNP2 81566 broad.mit.edu 37 12 51458343 51458343 + Missense_Mutation SNP A A C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr12:51458343A>C ENST00000228515.1 - 5 1115 c.818T>G c.(817-819)aTt>aGt p.I273S NM_030809.2 NP_110436.1 Q9H175 CSRN2_HUMAN cysteine-serine-rich nuclear protein 2 273 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.I273S(1) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 14 CAGCTTCATAATGGTGTGGAG 0.592000 25 88 0 0 0.006320 0 0 MDN1 23195 broad.mit.edu 37 6 90428642 90428642 + Nonsense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr6:90428642A>T ENST00000369393.3 - 42 6280 c.6165T>A c.(6163-6165)tgT>tgA p.C2055* MDN1_ENST00000428876.1_Nonsense_Mutation_p.C2055* Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 2055 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding p.C2055*(1) NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCATCTGCACACACTTCATGA 0.577000 22 74 0 0 0.001882 0 0 TRIM2 23321 broad.mit.edu 37 4 154191528 154191528 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr4:154191528G>T ENST00000338700.5 + 2 137 c.72G>T c.(70-72)caG>caT p.Q24H TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_5'UTR NM_015271.3 NP_056086.2 Q9C040 TRIM2_HUMAN tripartite motif containing 2 0 cytoplasm zinc ion binding p.Q24H(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1) 19 all_hematologic(180;0.093) Medulloblastoma(177;0.00225) GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703) CCCCATGTCAGTGGTCTAGGA 0.488000 17 121 3.51602e-12 6.80817e-12 0.001216 1 0 AP1B1 162 broad.mit.edu 37 22 29737726 29737726 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr22:29737726C>A ENST00000357586.2 - 13 1746 c.1560G>T c.(1558-1560)cgG>cgT p.R520R AP1B1_ENST00000317368.7_Silent_p.R520R|AP1B1_ENST00000402502.1_Silent_p.R520R|AP1B1_ENST00000415447.1_Silent_p.R520R|AP1B1_ENST00000405198.1_Silent_p.R520R|AP1B1_ENST00000432560.2_Silent_p.R520R|AP1B1_ENST00000356015.2_Silent_p.R520R NM_001127.3 NP_001118.3 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 520 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity p.R520R(1) endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 AGCCACGGTCCCGCAGGTCTG 0.597000 8 47 0.000157383 0.000211894 0.003080 1 0 OR1F1 4992 broad.mit.edu 37 16 3255074 3255074 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr16:3255074G>T ENST00000304646.2 + 1 828 c.828G>T c.(826-828)gtG>gtT p.V276V AJ003147.9_ENST00000576468.1_RNA NM_012360.1 NP_036492.1 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, member 1 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V276V(1) breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 TGGCTACTGTGTTGTATACAG 0.478000 27 167 1.75199e-13 3.53819e-13 0.007291 1 0 EYA1 2138 broad.mit.edu 37 8 72246386 72246386 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr8:72246386T>A ENST00000340726.3 - 4 787 c.148A>T c.(148-150)Agt>Tgt p.S50C EYA1_ENST00000419131.1_Missense_Mutation_p.S50C|EYA1_ENST00000303824.7_Missense_Mutation_p.S50C|EYA1_ENST00000388740.3_Missense_Mutation_p.S17C|EYA1_ENST00000388742.4_Missense_Mutation_p.S50C|EYA1_ENST00000388743.2_Missense_Mutation_p.S50C|EYA1_ENST00000388741.2_Missense_Mutation_p.S17C NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 50 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity p.S50C(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) GCTGTTTCACTGCTGCTCATT 0.328000 32 62 0 0 0.002836 0 0 LIPI 149998 broad.mit.edu 37 21 15561488 15561488 + Nonsense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr21:15561488A>T ENST00000344577.2 - 2 387 c.362T>A c.(361-363)tTg>tAg p.L121* LIPI_ENST00000536861.1_Nonsense_Mutation_p.L100* NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 100 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity p.L121*(1) endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TTCATTCAGCAAAATCCTTAC 0.373000 8 61 0 0 0.003080 0 0 RIMBP2 23504 broad.mit.edu 37 12 130921572 130921572 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr12:130921572C>A ENST00000261655.4 - 10 2033 c.1870G>T c.(1870-1872)Gcc>Tcc p.A624S RIMBP2_ENST00000536002.1_Missense_Mutation_p.A532S|RIMBP2_ENST00000535703.1_Missense_Mutation_p.A532S NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 624 Pro-rich. cell junction|synapse p.A624S(1) NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TGCTCCCAGGCCTCATCCATC 0.672000 5 30 0.000602214 0.000788215 0.000602 1 0 TEKT1 83659 broad.mit.edu 37 17 6703489 6703489 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr17:6703489G>A ENST00000338694.2 - 8 1243 c.1114C>T c.(1114-1116)Ctg>Ttg p.L372L TEKT1_ENST00000535086.1_Silent_p.L226L NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 372 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.L372L(1) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) TCCTCCTGCAGGGCAAGCTGT 0.483000 13 105 0 0 0.001855 0 0 MUC16 94025 broad.mit.edu 37 19 9061138 9061138 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr19:9061138T>C ENST00000397910.4 - 3 26511 c.26308A>G c.(26308-26310)Atc>Gtc p.I8770V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8772 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.I8770V(2)|p.I4403V(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATTCTAGTGATGGTTTCCGTG 0.493000 26 96 0 0 0.006320 0 0 SERPINB5 5268 broad.mit.edu 37 18 61166417 61166417 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr18:61166417G>A ENST00000382771.4 + 6 924 c.632G>A c.(631-633)aGt>aAt p.S211N SERPINB5_ENST00000464346.1_3'UTR NM_002639.4 NP_002630.2 P36952 SPB5_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 5 211 cellular component movement|regulation of proteolysis cytoplasm|extracellular space protein binding|serine-type endopeptidase inhibitor activity p.S211N(1) kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 12 AACATTGACAGTATCAATTGT 0.423000 9 60 0 0 0.006214 0 0 OR4M1 441670 broad.mit.edu 37 14 20248962 20248962 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr14:20248962G>T ENST00000315957.4 + 1 562 c.481G>T c.(481-483)Gct>Tct p.A161S NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A161S(1) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AATACAGGTGGCTCTCATTGT 0.512000 31 244 8.16721e-17 1.77414e-16 0.002096 1 0 ZNF800 168850 broad.mit.edu 37 7 127014765 127014765 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr7:127014765C>A ENST00000393313.1 - 5 1216 c.625G>T c.(625-627)Gaa>Taa p.E209* ZNF800_ENST00000265827.3_Nonsense_Mutation_p.E209*|ZNF800_ENST00000393312.1_Nonsense_Mutation_p.E209* Q2TB10 ZN800_HUMAN zinc finger protein 800 209 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E209*(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 TGAGGTTGTTCATCAGATGTA 0.418000 32 109 3.57733e-08 5.87136e-08 0.001786 1 0 MAGEB2 4113 broad.mit.edu 37 X 30237292 30237292 + Missense_Mutation SNP C C A rs45513291 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:30237292C>A ENST00000378988.4 + 2 696 c.595C>A c.(595-597)Ccc>Acc p.P199T NM_002364.4 NP_002355.2 O15479 MAGB2_HUMAN melanoma antigen family B, 2 199 MAGE. protein binding p.P199T(2) breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 CTGGGACTTTCCCAGGAGAAA 0.488000 10 33 2.17888e-05 3.06109e-05 0.006214 1 0 C1orf87 127795 broad.mit.edu 37 1 60505798 60505798 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:60505798G>A ENST00000371201.3 - 5 645 c.538C>T c.(538-540)Ctg>Ttg p.L180L C1orf87_ENST00000450089.2_Intron NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 180 calcium ion binding p.L180L(1) breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 CTTCTGACCAGGGCAAGAAGA 0.433000 36 123 0 0 0.005524 0 0 ARMC5 79798 broad.mit.edu 37 16 31476036 31476036 + Silent SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr16:31476036A>T ENST00000457010.2 + 4 2393 c.1692A>T c.(1690-1692)ccA>ccT p.P564P ARMC5_ENST00000268314.4_Silent_p.P564P|ARMC5_ENST00000412665.2_Silent_p.P208P|ARMC5_ENST00000408912.3_Silent_p.P659P|ARMC5_ENST00000563544.1_Silent_p.P564P|ARMC5_ENST00000538189.1_Silent_p.P596P NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 564 binding p.P564P(1)|p.P659P(1) central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CGCCCAGCCCACGTGCACTGC 0.706000 3 14 0 0 0.004672 0 0 LINS 55180 broad.mit.edu 37 15 101114229 101114229 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr15:101114229C>A ENST00000314742.8 - 5 1071 c.849G>T c.(847-849)atG>atT p.M283I LINS_ENST00000560133.1_Missense_Mutation_p.M164I|LINS_ENST00000561308.1_Missense_Mutation_p.M283I|LINS_ENST00000559149.1_5'UTR NM_001040616.2 NP_001035706.1 Q8NG48 LINES_HUMAN lines homolog (Drosophila) 283 p.M283I(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 TAACTTCTAGCATGCAAGATG 0.413000 8 50 1.26484e-09 2.20177e-09 0.003080 1 0 PARP8 79668 broad.mit.edu 37 5 50124151 50124151 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr5:50124151C>T ENST00000281631.5 + 21 2254 c.2096C>T c.(2095-2097)tCa>tTa p.S699L PARP8_ENST00000503750.2_Missense_Mutation_p.S657L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.S657L|PARP8_ENST00000514342.2_Missense_Mutation_p.S410L|PARP8_ENST00000505697.2_Missense_Mutation_p.S699L|PARP8_ENST00000505554.1_Missense_Mutation_p.S678L NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 699 PARP catalytic. intracellular NAD+ ADP-ribosyltransferase activity p.S699L(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) TTTAGTGGCTCACACATTGAA 0.378000 10 107 0 0 0.006214 0 0 XKRX 402415 broad.mit.edu 37 X 100178004 100178004 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:100178004C>A ENST00000328526.5 - 2 986 c.421G>T c.(421-423)Gag>Tag p.E141* XKRX_ENST00000372956.2_Nonsense_Mutation_p.E128*|XKRX_ENST00000468904.1_Intron NM_212559.2 NP_997724.2 Q6PP77 XKR2_HUMAN XK, Kell blood group complex subunit-related, X-linked 128 integral to membrane|plasma membrane p.E141*(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3) 22 TCCTCCTGCTCCTCTTTCTTC 0.512000 32 140 2.46105e-21 5.78347e-21 0.002096 1 0 AKAP12 9590 broad.mit.edu 37 6 151673210 151673210 + Silent SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr6:151673210G>C ENST00000402676.2 + 4 3924 c.3684G>C c.(3682-3684)gtG>gtC p.V1228V AKAP12_ENST00000354675.6_Silent_p.V1130V|AKAP12_ENST00000253332.1_Silent_p.V1228V|AKAP12_ENST00000359755.5_Silent_p.V1123V NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 1228 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding p.V1228V(1) breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) CCAGTTTTGTGTTCCAGGAAG 0.473000 16 59 0 0 0.004990 0 0 LZTR1 8216 broad.mit.edu 37 22 21343151 21343151 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr22:21343151G>T ENST00000215739.8 + 6 942 c.583G>T c.(583-585)Ggc>Tgc p.G195C LZTR1_ENST00000389355.3_Missense_Mutation_p.G176C|LZTR1_ENST00000479606.1_3'UTR NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 195 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity p.G195C(1) breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TGGCTATGACGGCAACGCCAG 0.637000 29 86 1.39806e-14 2.87966e-14 0.001512 1 0 DTX2 113878 broad.mit.edu 37 7 76112318 76112318 + Silent SNP G G T rs146537218 byFrequency TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr7:76112318G>T ENST00000324432.5 + 5 1272 c.762G>T c.(760-762)ggG>ggT p.G254G DTX2_ENST00000446820.2_Silent_p.G254G|DTX2_ENST00000413936.2_Silent_p.G254G|DTX2_ENST00000430490.2_Silent_p.G254G|DTX2_ENST00000446600.1_Silent_p.G163G|DTX2_ENST00000307569.8_Silent_p.G254G NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 254 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding p.G254G(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 CACTCTCCGGGGCCCGGTCTG 0.677000 24 230 4.43304e-23 1.06106e-22 0.006320 1 0 CHI3L2 1117 broad.mit.edu 37 1 111773424 111773424 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:111773424G>A ENST00000445067.2 + 5 902 c.131G>A c.(130-132)gGa>gAa p.G44E CHI3L2_ENST00000369744.2_Missense_Mutation_p.G34E|CHI3L2_ENST00000524472.1_5'UTR|CHI3L2_ENST00000466741.1_5'UTR|CHI3L2_ENST00000369748.4_Missense_Mutation_p.G44E Q15782 CH3L2_HUMAN chitinase 3-like 2 44 chitin catabolic process extracellular space cation binding|chitinase activity p.G44E(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1) 19 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) CAGGAACCAGGAAAATTCACC 0.478000 13 52 0 0 0.001855 0 0 ZNF546 339327 broad.mit.edu 37 19 40520110 40520110 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr19:40520110T>A ENST00000347077.4 + 7 1149 c.933T>A c.(931-933)agT>agA p.S311R ZNF546_ENST00000600094.1_Missense_Mutation_p.S285R|ZNF546_ENST00000596894.1_Intron NM_178544.3 NP_848639.2 Q86UE3 ZN546_HUMAN zinc finger protein 546 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S311R(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 34 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) AAGCCTTTAGTCGTGTTAGAG 0.408000 18 109 0 0 0.006122 0 0 NCAPD3 23310 broad.mit.edu 37 11 134051057 134051057 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr11:134051057C>A ENST00000534548.2 - 20 2538 c.2474G>T c.(2473-2475)gGg>gTg p.G825V RP11-700F16.3_ENST00000531710.1_RNA NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 825 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding p.G825V(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) GAGTACATCCCCACACACCTG 0.522000 16 37 2.32078e-09 4.01286e-09 0.003163 1 0 CCDC112 153733 broad.mit.edu 37 5 114607173 114607173 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr5:114607173C>A ENST00000379611.5 - 7 1356 c.1069G>T c.(1069-1071)Gca>Tca p.A357S CCDC112_ENST00000395557.4_Missense_Mutation_p.A274S|CCDC112_ENST00000506442.1_Missense_Mutation_p.A274S|CCDC112_ENST00000512261.1_Missense_Mutation_p.A274S NM_001040440.2 NP_001035530.1 Q8NEF3 CC112_HUMAN coiled-coil domain containing 112 274 p.A357S(1) endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1) 20 all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06) GCTTCAACTGCCAAtttctgt 0.333000 15 87 1.49906e-05 2.12332e-05 0.002450 1 0 MBOAT1 154141 broad.mit.edu 37 6 20152873 20152873 + Missense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr6:20152873A>T ENST00000324607.7 - 2 391 c.227T>A c.(226-228)gTc>gAc p.V76D MBOAT1_ENST00000536798.1_Missense_Mutation_p.V76D|MBOAT1_ENST00000541730.1_5'UTR NM_001080480.1 NP_001073949.1 Q6ZNC8 MBOA1_HUMAN membrane bound O-acyltransferase domain containing 1 76 phospholipid biosynthetic process integral to membrane acyltransferase activity p.V76D(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5) 20 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) ACAAAAGATGACAAAATAGAT 0.438000 5 8 0 0 0.001168 0 0 HAUS3 79441 broad.mit.edu 37 4 2238091 2238091 + Missense_Mutation SNP T T C rs150101454 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr4:2238091T>C ENST00000243706.4 - 4 1671 c.1442A>G c.(1441-1443)aAt>aGt p.N481S HAUS3_ENST00000506763.1_Intron|POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000443786.2_Missense_Mutation_p.N481S NM_024511.5 NP_078787.2 Q68CZ6 HAUS3_HUMAN HAUS augmin-like complex, subunit 3 481 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle p.N481S(1) breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 TAAAGAAATATTCTGTTTCAA 0.368000 22 66 0 0 0.003330 0 0 EGFL6 25975 broad.mit.edu 37 X 13624574 13624574 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:13624574C>A ENST00000361306.1 + 6 854 c.597C>A c.(595-597)taC>taA p.Y199* EGFL6_ENST00000380602.3_Nonsense_Mutation_p.Y199* NM_001167890.1|NM_015507.3 NP_001161362.1|NP_056322.2 Q8IUX8 EGFL6_HUMAN EGF-like-domain, multiple 6 199 EGF-like 4; calcium-binding (Potential). cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding p.Y199*(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3) 23 GAAGCTACTACTGCAAATGTC 0.413000 41 134 2.87052e-16 6.18358e-16 0.005524 1 0 CDH18 1016 broad.mit.edu 37 5 19520859 19520859 + Silent SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr5:19520859T>A ENST00000507958.1 - 12 2409 c.1419A>T c.(1417-1419)acA>acT p.T473T CDH18_ENST00000502796.1_Silent_p.T473T|CDH18_ENST00000382275.1_Silent_p.T473T|CDH18_ENST00000506372.1_Silent_p.T473T|CDH18_ENST00000511273.1_Silent_p.T473T|CDH18_ENST00000274170.4_Silent_p.T473T Q13634 CAD18_HUMAN cadherin 18, type 2 473 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T473T(2) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TAATACCCACTGTGACATGGC 0.388000 48 93 0 0 0.003610 0 0 TENM4 26011 broad.mit.edu 37 11 78387379 78387379 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr11:78387379G>A ENST00000278550.7 - 30 5776 c.5314C>T c.(5314-5316)Ctg>Ttg p.L1772L NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 p.L1772L(2) CCGTTGGCCAGCAGCAGCCGC 0.622000 3 61 0 0 0.004672 0 0 UBN1 29855 broad.mit.edu 37 16 4910738 4910738 + Silent SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr16:4910738C>T ENST00000396658.4 + 6 1448 c.745C>T c.(745-747)Cta>Tta p.L249L UBN1_ENST00000262376.6_Silent_p.L249L|UBN1_ENST00000590769.1_Silent_p.L249L|UBN1_ENST00000545171.1_Silent_p.L249L NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 249 Lys-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.L249L(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 TAAAGAGATGCTAAAGAAATT 0.478000 38 171 0 0 0.003755 0 0 LCE2C 353140 broad.mit.edu 37 1 152648743 152648743 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:152648743C>A ENST00000368783.1 + 2 307 c.252C>A c.(250-252)cgC>cgA p.R84R LCE2B_ENST00000417924.2_Intron NM_178429.2 NP_848516.1 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 84 Cys-rich. keratinization p.R84R(1) endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 13 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TCCACCGGCGCCGGCACCAGA 0.682000 28 95 7.41945e-09 1.24138e-08 0.005443 1 0 SCN4A 6329 broad.mit.edu 37 17 62018615 62018615 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr17:62018615C>A ENST00000578147.1 - 24 5103 c.5027G>T c.(5026-5028)tGc>tTc p.C1676F SCN4A_ENST00000435607.1_Missense_Mutation_p.C1676F P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1676 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.C1676F(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GATGTCCAGGCAGTGGATCTT 0.567000 23 89 1.85244e-09 3.2138e-09 0.003330 1 0 DHRS4 10901 broad.mit.edu 37 14 24435560 24435560 + Silent SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr14:24435560G>C ENST00000313250.5 + 6 803 c.600G>C c.(598-600)ctG>ctC p.L200L DHRS4_ENST00000558263.1_Intron|DHRS4_ENST00000397075.3_Intron|DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000382761.3_Intron|DHRS4_ENST00000308178.8_Intron|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000421831.1_Silent_p.L148L|DHRS4_ENST00000543741.2_Intron|DHRS4_ENST00000558581.1_Silent_p.L166L|DHRS4_ENST00000559632.1_Intron NM_021004.2 NP_066284.2 Q9BTZ2 DHRS4_HUMAN dehydrogenase/reductase (SDR family) member 4 200 mitochondrion|nuclear membrane|peroxisome binding|carbonyl reductase (NADPH) activity p.L200L(1) central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) CCATAGAGCTGGCCCCAAGGA 0.507000 14 180 0 0 0.003163 0 0 SLC28A1 9154 broad.mit.edu 37 15 85487830 85487830 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr15:85487830C>T ENST00000394573.1 + 17 1899 c.1697C>T c.(1696-1698)tCc>tTc p.S566F SLC28A1_ENST00000286749.3_Missense_Mutation_p.S566F|SLC28A1_ENST00000537624.1_Missense_Mutation_p.S566F|SLC28A1_ENST00000538177.1_Missense_Mutation_p.S400F|SLC28A1_ENST00000537216.1_Intron NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 566 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding p.S566F(1) breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGCGACTTCTCCCAGATAGTG 0.637000 3 35 0 0 0.004672 0 0 CTAG2 30848 broad.mit.edu 37 X 153880408 153880408 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:153880408G>A ENST00000369585.3 - 3 590 c.538C>T c.(538-540)Cgc>Tgc p.R180C CTAG2_ENST00000247306.4_3'UTR NM_172377.3 NP_758965.1 O75638 CTAG2_HUMAN cancer/testis antigen 2 0 centrosome p.R180C(1) central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1) 10 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGGGCTTAGCGCCTCTGCCCT 0.597000 12 61 0 0 0.002450 0 0 MYH2 4620 broad.mit.edu 37 17 10443964 10443964 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr17:10443964C>A ENST00000245503.5 - 11 1339 c.955G>T c.(955-957)Ggg>Tgg p.G319W MYH2_ENST00000397183.2_Missense_Mutation_p.G319W|MYH2_ENST00000532183.1_Missense_Mutation_p.G319W|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 319 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.G319W(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CTGATCTCCCCTTGACTGACA 0.383000 13 54 0.00400662 0.00505226 0.004007 1 0 ARMC3 219681 broad.mit.edu 37 10 23244787 23244787 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr10:23244787C>A ENST00000298032.5 + 4 302 c.218C>A c.(217-219)aCt>aAt p.T73N ARMC3_ENST00000464017.1_3'UTR|ARMC3_ENST00000409049.3_Missense_Mutation_p.T73N|ARMC3_ENST00000376528.4_5'UTR|ARMC3_ENST00000409983.3_Missense_Mutation_p.T73N NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 73 binding p.T73N(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GAACCTTTAACTAAGCTACTC 0.348000 8 49 1.12685e-05 1.60934e-05 0.004482 1 0 ATXN3L 92552 broad.mit.edu 37 X 13337046 13337046 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:13337046G>T ENST00000380622.2 - 1 1472 c.1008C>A c.(1006-1008)gcC>gcA p.A336A GS1-600G8.3_ENST00000431486.1_RNA NM_001135995.1 NP_001129467.1 Q9H3M9 ATX3L_HUMAN ataxin 3-like 336 protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity p.A336A(1) endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 TGTCGACAGCGGCCTGTACTG 0.393000 63 210 2.23399e-28 5.47382e-28 0.003610 1 0 MMEL1 79258 broad.mit.edu 37 1 2524404 2524404 + Splice_Site SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:2524404G>T ENST00000288709.6 - 20 2082 c.1840_splice c.e20-1 p.G614_splice MMEL1_ENST00000502556.1_Splice_Site_p.G466_splice|MMEL1_ENST00000378412.3_Splice_Site_p.G623_splice NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 623 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity p.G614G(1) cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) CGAAGTTCCGGCCTGGGCAGG 0.632000 9 66 0.00185496 0.0023621 0.001855 1 0 LATS2 26524 broad.mit.edu 37 13 21557438 21557438 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr13:21557438C>A ENST00000382592.4 - 5 2812 c.2407G>T c.(2407-2409)Ggt>Tgt p.G803C LATS2_ENST00000542899.1_Missense_Mutation_p.G803C NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 803 Protein kinase. cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.G803C(2) breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) TTAATGTGACCATCCAGATCT 0.458000 13 58 1.61879e-10 2.96778e-10 0.001368 1 0 CR1 1378 broad.mit.edu 37 1 207739213 207739213 + Silent SNP T T C rs56229517 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:207739213T>C ENST00000367049.4 + 24 3897 c.3897T>C c.(3895-3897)taT>taC p.Y1299Y CR1_ENST00000367053.1_Silent_p.Y849Y|CR1_ENST00000367052.1_Intron|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Silent_p.Y849Y|CR1_ENST00000400960.2_Silent_p.Y849Y NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 849 Sushi 20. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.Y854Y(1)|p.Y1299Y(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CTGCTAGTTATTGTGTCTTGG 0.423000 13 166 0 0 0.001855 0 0 HCCAT5 283902 broad.mit.edu 37 16 73126680 73126680 + RNA SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr16:73126680T>C ENST00000569990.2 + 0 433 NR_027756.1 CCCTGCTATTTATGGGTTGCT 0.507000 2 5 0 0 0.004672 0 0 SLC5A7 60482 broad.mit.edu 37 2 108604753 108604753 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:108604753G>T ENST00000264047.2 + 2 418 c.142G>T c.(142-144)Gat>Tat p.D48Y SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Missense_Mutation_p.D48Y NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 48 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity p.D48Y(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TGGTGGCCGAGATATTGGTTT 0.527000 11 60 1.58986e-06 2.35519e-06 0.000673 1 0 SYT13 57586 broad.mit.edu 37 11 45275883 45275883 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr11:45275883T>C ENST00000020926.3 - 3 593 c.482A>G c.(481-483)aAa>aGa p.K161R CTD-2560E9.5_ENST00000534342.1_RNA|CTD-2560E9.5_ENST00000531663.1_RNA NM_001247987.1|NM_020826.2 NP_001234916.1|NP_065877.1 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 161 transport vesicle p.K161R(1) breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2) 23 GTAGTGGAGTTTGGGGGCCTG 0.517000 15 42 0 0 0.003163 0 0 ZBTB2 57621 broad.mit.edu 37 6 151687533 151687533 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr6:151687533T>C ENST00000325144.4 - 3 808 c.668A>G c.(667-669)gAa>gGa p.E223G NM_020861.1 NP_065912.1 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 223 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E223G(1) breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) GGAAGATGCTTCCAGATTGGT 0.552000 16 78 0 0 0.004007 0 0 MYOF 26509 broad.mit.edu 37 10 95126285 95126285 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr10:95126285T>C ENST00000371501.4 - 26 2739 c.2617A>G c.(2617-2619)Aaa>Gaa p.K873E MYOF_ENST00000371502.4_Missense_Mutation_p.K873E|MYOF_ENST00000359263.4_Missense_Mutation_p.K873E|MYOF_ENST00000358334.5_Missense_Mutation_p.K860E Q9NZM1 MYOF_HUMAN myoferlin 873 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding p.K873E(1) NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GTACCCCATTTTCCAAACATG 0.348000 18 61 0 0 0.006122 0 0 GRIA4 2893 broad.mit.edu 37 11 105795225 105795225 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr11:105795225T>C ENST00000393127.2 + 12 2023 c.1577T>C c.(1576-1578)aTc>aCc p.I526T GRIA4_ENST00000282499.5_Missense_Mutation_p.I526T|GRIA4_ENST00000525187.1_Missense_Mutation_p.I526T|GRIA4_ENST00000530497.1_Missense_Mutation_p.I526T NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 526 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TCTATCATGATCAAAAAGCCT 0.438000 4 229 0 0 0.000248 0 0 PDE6B 5158 broad.mit.edu 37 4 647771 647771 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr4:647771C>A ENST00000255622.6 + 4 885 c.842C>A c.(841-843)aCc>aAc p.T281N PDE6B_ENST00000496514.1_Missense_Mutation_p.T281N|RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000429163.2_Missense_Mutation_p.T2N|RP11-1191J2.2_ENST00000489312.1_RNA NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 281 GAF 2. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding p.T281N(1) NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CTGGACATGACCAAGGAGAAG 0.652000 8 61 1.06961e-07 1.74445e-07 0.003080 1 0 SERPINB13 5275 broad.mit.edu 37 18 61259708 61259708 + Nonsense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr18:61259708C>T ENST00000344731.5 + 4 454 c.352C>T c.(352-354)Caa>Taa p.Q118* SERPINB13_ENST00000269489.5_Nonsense_Mutation_p.Q118* NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 118 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 CCTCTTCCTTCAAGTAAGTTT 0.423000 7 38 0 0 0.004482 0 0 LRRC37A 9884 broad.mit.edu 37 17 44408380 44408380 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr17:44408380C>A ENST00000320254.5 + 9 3740 c.3737C>A c.(3736-3738)tCt>tAt p.S1246Y ARL17B_ENST00000434041.2_Intron|ARL17B_ENST00000570618.1_Intron|LRRC37A_ENST00000496930.1_Missense_Mutation_p.S284Y|LRRC37A_ENST00000393465.3_Missense_Mutation_p.S1246Y|ARL17B_ENST00000575960.1_Intron|ARL17B_ENST00000575698.1_Intron NM_014834.4 NP_055649.4 A6NMS7 L37A1_HUMAN leucine rich repeat containing 37A 1246 integral to membrane p.S1246Y(1) endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1) 11 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) GCAGCAGTCTCTGTGCTGAAA 0.557000 11 18 0.00074312 0.000967741 0.006122 1 0 CHST4 10164 broad.mit.edu 37 16 71570875 71570875 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr16:71570875C>A ENST00000338482.5 + 3 638 c.295C>A c.(295-297)Cgg>Agg p.R99R CHST4_ENST00000539698.3_Silent_p.R99R|CHST4_ENST00000572450.1_Silent_p.R99R|ZNF19_ENST00000568446.1_Intron|RP11-510M2.9_ENST00000572693.1_RNA Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 99 cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity p.R99R(1) cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 GGATCTGATACGGGCCGTCTT 0.592000 28 69 4.59853e-10 8.19807e-10 0.005443 1 0 TRPC5 7224 broad.mit.edu 37 X 111195529 111195529 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:111195529C>A ENST00000262839.2 - 2 1038 c.120G>T c.(118-120)gtG>gtT p.V40V NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 40 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity p.V40V(1) biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CCCCCTTCTCCACAGCATTGA 0.542000 19 77 2.4624e-09 4.22943e-09 0.001216 1 0 BIRC8 112401 broad.mit.edu 37 19 53793473 53793473 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr19:53793473T>A ENST00000426466.1 - 1 1402 c.155A>T c.(154-156)aAg>aTg p.K52M NM_033341.4 NP_203127.3 Q96P09 BIRC8_HUMAN baculoviral IAP repeat containing 8 52 apoptosis zinc ion binding p.K52M(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1) 19 GBM - Glioblastoma multiforme(134;0.00304) AGGATCTTCCTTGGGCTTCCA 0.428000 19 80 0 0 0.006122 0 0 MYO10 4651 broad.mit.edu 37 5 16672820 16672820 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr5:16672820C>A ENST00000513610.1 - 37 5741 c.5287G>T c.(5287-5289)Gat>Tat p.D1763Y MYO10_ENST00000505695.1_Missense_Mutation_p.D1102Y|MYO10_ENST00000515803.1_Missense_Mutation_p.D1102Y|MYO10_ENST00000274203.9_Missense_Mutation_p.D1120Y|MYO10_ENST00000427430.2_Missense_Mutation_p.D1120Y NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1763 FERM. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity p.D1763Y(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 GCTAAGACATCAGCTACGACG 0.478000 21 63 1.2644e-06 1.8893e-06 0.001523 1 0 CLEC1A 51267 broad.mit.edu 37 12 10241744 10241744 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr12:10241744G>C ENST00000315330.4 - 2 255 c.193C>G c.(193-195)Ctg>Gtg p.L65V CLEC1A_ENST00000420265.2_Intron|CLEC1A_ENST00000457018.2_Intron NM_016511.2 NP_057595.2 Q8NC01 CLC1A_HUMAN C-type lectin domain family 1, member A 65 cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity p.L65L(1)|p.L65V(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 23 AGGGCTGCCAGCCCTATCAGC 0.552000 5 52 0 0 0.001168 0 0 TFAP2D 83741 broad.mit.edu 37 6 50696930 50696930 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr6:50696930G>C ENST00000008391.3 + 5 1016 c.788G>C c.(787-789)cGc>cCc p.R263P TFAP2D_ENST00000492804.1_3'UTR NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 263 DNA binding|sequence-specific DNA binding transcription factor activity p.R263P(1) NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) AATGGGGGCCGCTGCCTGAGA 0.418000 22 149 0 0 0.002299 0 0 CHEK1 1111 broad.mit.edu 37 11 125497573 125497573 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr11:125497573T>C ENST00000534070.1 + 3 392 c.137T>C c.(136-138)gTa>gCa p.V46A CHEK1_ENST00000278916.3_Missense_Mutation_p.V46A|CHEK1_ENST00000544373.1_Missense_Mutation_p.V46A|CHEK1_ENST00000427383.2_Intron|CHEK1_ENST00000532449.1_Intron|CHEK1_ENST00000524737.1_Missense_Mutation_p.V46A|CHEK1_ENST00000428830.2_Missense_Mutation_p.V46A|CHEK1_ENST00000438015.1_Missense_Mutation_p.V46A NM_001274.5 NP_001265.2 O14757 CHK1_HUMAN checkpoint kinase 1 46 Protein kinase. cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity p.V46A(1) central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) AAGCGTGCCGTAGACTGTCCA 0.343000 Other conserved DNA damage response genes 3 89 0 0 0.004672 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801850 185801850 + Missense_Mutation SNP A A C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:185801850A>C ENST00000302277.6 + 4 2321 c.1727A>C c.(1726-1728)aAa>aCa p.K576T NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 576 intracellular zinc ion binding p.K576T(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 CTAGATGAAAAATACAACAAA 0.303000 3 80 0 0 0.004672 0 0 OR5L1 219437 broad.mit.edu 37 11 55579627 55579627 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr11:55579627G>T ENST00000333973.2 + 1 774 c.685G>T c.(685-687)Ggc>Tgc p.G229C NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G229C(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) CCTGAAGATGGGCTCTGCAGA 0.512000 30 117 3.1745e-13 6.3613e-13 0.001512 1 0 OR1A1 8383 broad.mit.edu 37 17 3119679 3119679 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr17:3119679G>T ENST00000304094.1 + 1 765 c.765G>T c.(763-765)atG>atT p.M255I NM_014565.2 NP_055380.2 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, member 1 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M255I(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 23 GTACAGTCATGGGCACGTATT 0.488000 29 156 3.1745e-13 6.3613e-13 0.001512 1 0 FBN2 2201 broad.mit.edu 37 5 127666379 127666379 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr5:127666379C>G ENST00000508053.1 - 39 5205 c.4231G>C c.(4231-4233)Gaa>Caa p.E1411Q FBN2_ENST00000262464.4_Missense_Mutation_p.E1411Q|FBN2_ENST00000507835.1_Missense_Mutation_p.E261Q|FBN2_ENST00000508989.1_Missense_Mutation_p.E1378Q P35556 FBN2_HUMAN fibrillin 2 1411 EGF-like 23; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.E1411Q(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TTAGAACATTCGTCCAGATCT 0.428000 7 30 0 0 0.001984 0 0 SCG3 29106 broad.mit.edu 37 15 51991556 51991556 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr15:51991556G>C ENST00000220478.3 + 9 1429 c.1026G>C c.(1024-1026)aaG>aaC p.K342N SCG3_ENST00000542355.2_Missense_Mutation_p.K110N NM_013243.3 NP_037375.2 Q8WXD2 SCG3_HUMAN secretogranin III 342 platelet activation|platelet degranulation extracellular region|stored secretory granule p.K342N(1) breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) CCAAAAACAAGCTAGAAAAAA 0.313000 12 128 0 0 0.002450 0 0 OPRK1 4986 broad.mit.edu 37 8 54142028 54142028 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr8:54142028G>T ENST00000265572.3 - 4 1269 c.972C>A c.(970-972)agC>agA p.S324R OPRK1_ENST00000524278.1_Missense_Mutation_p.S235R|OPRK1_ENST00000520287.1_Missense_Mutation_p.S324R|RP11-162D9.3_ENST00000524425.1_RNA NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 324 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding p.S324R(1) NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) TGGGATTCAGGCTACTGTTGG 0.512000 8 65 0.00307968 0.0038929 0.003080 1 0 PDPR 55066 broad.mit.edu 37 16 70190519 70190519 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr16:70190519G>T ENST00000288050.4 + 19 3334 c.2377G>T c.(2377-2379)Ggg>Tgg p.G793W PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Missense_Mutation_p.G693W|PDPR_ENST00000542659.1_Missense_Mutation_p.G138W|PDPR_ENST00000568530.1_Missense_Mutation_p.G793W|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000567046.1_Missense_Mutation_p.G151W NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit 793 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity p.G793W(2) 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) TTACCGGAATGGGCAGTATGT 0.542000 51 267 7.91745e-34 1.96794e-33 0.003610 1 0 CEP44 80817 broad.mit.edu 37 4 175237375 175237375 + Silent SNP A A C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr4:175237375A>C ENST00000503780.1 + 10 1434 c.1020A>C c.(1018-1020)acA>acC p.T340T CEP44_ENST00000426172.1_Silent_p.T340T|CEP44_ENST00000296519.4_Silent_p.T340T|CEP44_ENST00000457424.2_Silent_p.T340T NM_001040157.2 NP_001035247.1 Q9C0F1 CEP44_HUMAN centrosomal protein 44kDa 340 centrosome|midbody|spindle pole p.T340T(1) endometrium(2)|large_intestine(4)|lung(5)|stomach(1) 12 GCTATAGTACAGCATCATCAG 0.373000 29 150 0 0 0.002096 0 0 PLCB4 5332 broad.mit.edu 37 20 9374320 9374320 + Missense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr20:9374320A>T ENST00000378501.2 + 15 1424 c.1409A>T c.(1408-1410)gAa>gTa p.E470V PLCB4_ENST00000378493.1_Missense_Mutation_p.E470V|PLCB4_ENST00000278655.4_Missense_Mutation_p.E470V|PLCB4_ENST00000378473.3_Missense_Mutation_p.E470V|PLCB4_ENST00000334005.3_Missense_Mutation_p.E470V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.E470V NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 470 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.E470V(1) NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 CCTGAAGTTGAAAAAAGTAAG 0.363000 OREG0025771 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 63 0 0 0.002780 0 0 APOC4-APOC2 100533990 broad.mit.edu 37 19 45448463 45448463 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr19:45448463G>A ENST00000419266.2 + 3 325 c.285G>A c.(283-285)ccG>ccA p.P95P APOC4-APOC2_ENST00000436871.1_Silent_p.P95P|APOC4_ENST00000592954.1_Silent_p.P95P|APOC4-APOC2_ENST00000589057.1_Intron p.P95P(1) ACCTGGGTCCGCTCACCAAGG 0.592000 6 298 0 0 0.001984 0 0 FSTL5 56884 broad.mit.edu 37 4 162380417 162380417 + Nonsense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr4:162380417G>A ENST00000306100.5 - 14 2099 c.1663C>T c.(1663-1665)Cag>Tag p.Q555* FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Q554*|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Q554*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Q545* NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 555 extracellular region calcium ion binding p.Q555*(1) central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) ACCCAGACCTGATCATGTGAT 0.358000 13 70 0 0 0.002450 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89104958 89104958 + RNA SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:89104958A>G ENST00000393525.3 + 0 4898 AATTCAAATCATTGATTTCTG 0.289000 3 6 0 0 0.000248 0 0 TAS2R60 338398 broad.mit.edu 37 7 143140666 143140666 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr7:143140666G>T ENST00000332690.1 + 1 121 c.121G>T c.(121-123)Gct>Tct p.A41S EPHA1-AS1_ENST00000429289.1_RNA NM_177437.1 NP_803186.1 P59551 T2R60_HUMAN taste receptor, type 2, member 60 41 sensory perception of bitter taste integral to membrane G-protein coupled receptor activity p.A41S(1) breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2) 31 Melanoma(164;0.172) CATCACTGCTGCTCTGGGCGT 0.493000 42 124 1.62957e-23 3.91855e-23 0.001951 1 0 SLC35G1 159371 broad.mit.edu 37 10 95661109 95661109 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr10:95661109G>T ENST00000371408.3 + 3 1018 c.957G>T c.(955-957)atG>atT p.M319I SLC35G1_ENST00000427197.1_Missense_Mutation_p.M320I Q2M3R5 TMM20_HUMAN solute carrier family 35, member G1 320 DUF6 2. integral to membrane p.M319I(1) TGAAGACAATGGATGTGGTCT 0.403000 8 76 1.12685e-05 1.60934e-05 0.004482 1 0 TENM1 10178 broad.mit.edu 37 X 123839006 123839006 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:123839006G>A ENST00000422452.2 - 5 935 c.872C>T c.(871-873)cCt>cTt p.P291L TENM1_ENST00000371130.3_Missense_Mutation_p.P291L NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 p.P293L(1) AGGCCTGGGAGGGGGCGAGTA 0.527000 38 218 0 0 0.007835 0 0 FANCB 2187 broad.mit.edu 37 X 14882911 14882911 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:14882911T>A ENST00000398334.1 - 3 989 c.722A>T c.(721-723)cAt>cTt p.H241L FANCB_ENST00000324138.3_Missense_Mutation_p.H241L NM_001018113.1 NP_001018123.1 Q8NB91 FANCB_HUMAN Fanconi anemia, complementation group B 241 DNA repair nucleoplasm p.H241L(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) TGCACAAATATGTACATAAGT 0.338000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 20 94 0 0 0.007413 0 0 SMG8 55181 broad.mit.edu 37 17 57288024 57288024 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr17:57288024C>G ENST00000543872.2 + 2 876 c.612C>G c.(610-612)ttC>ttG p.F204L SMG8_ENST00000300917.5_Missense_Mutation_p.F204L|SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.F204L Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 204 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding p.F204L(1) NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 TTTACCTATTCTCTGTCTGTC 0.498000 13 64 0 0 0.001855 0 0 NTF3 4908 broad.mit.edu 37 12 5603979 5603979 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr12:5603979C>A ENST00000423158.3 + 2 850 c.638C>A c.(637-639)cCg>cAg p.P213Q NTF3_ENST00000331010.6_Missense_Mutation_p.P200Q|NTF3_ENST00000535299.1_Intron NM_001102654.1 NP_001096124.1 P20783 NTF3_HUMAN neurotrophin 3 200 signal transduction extracellular region growth factor activity|neurotrophin receptor binding p.P200Q(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1) 22 GAAGCCAGGCCGGTCAAAAAC 0.483000 14 63 1.5739e-10 2.9165e-10 0.004007 1 0 MPPED1 758 broad.mit.edu 37 22 43821177 43821177 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr22:43821177C>A ENST00000417669.1 + 2 630 c.186C>A c.(184-186)aaC>aaA p.N62K MPPED1_ENST00000443721.1_Missense_Mutation_p.N62K|MPPED1_ENST00000538182.1_Missense_Mutation_p.N95K|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Missense_Mutation_p.N62K|MPPED1_ENST00000414469.2_Intron O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 62 hydrolase activity p.N62K(1) endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) CCTTCTACAACATCAACCAGG 0.662000 7 34 1.76689e-08 2.93725e-08 0.006214 1 0 RCAN3 11123 broad.mit.edu 37 1 24840900 24840900 + Missense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:24840900A>T ENST00000374395.4 + 2 351 c.38A>T c.(37-39)cAg>cTg p.Q13L RCAN3_ENST00000538532.1_Missense_Mutation_p.Q13L|RCAN3_ENST00000374393.2_Missense_Mutation_p.Q13L|RCAN3_ENST00000412742.2_Missense_Mutation_p.Q13L|RCAN3_ENST00000436717.2_Missense_Mutation_p.Q13L NM_001251978.1|NM_001251979.1|NM_001251984.1 NP_001238907.1|NP_001238908.1|NP_001238913.1 Q9UKA8 RCAN3_HUMAN RCAN family member 3 13 anatomical structure morphogenesis|calcium-mediated signaling nucleotide binding|RNA binding|troponin I binding p.Q13L(1) central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2) 7 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14) AATGATAGCCAGTCAGATCTG 0.428000 12 76 0 0 0.002450 0 0 RPL10L 140801 broad.mit.edu 37 14 47120853 47120853 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr14:47120853G>T ENST00000298283.3 - 1 175 c.87C>A c.(85-87)gcC>gcA p.A29A NM_080746.2 NP_542784.1 Q96L21 RL10L_HUMAN ribosomal protein L10-like 29 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome p.A29A(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1) 27 TGCGGATCTTGGCATCAGGAA 0.527000 18 148 4.75885e-15 9.88082e-15 0.004990 1 0 GPR142 350383 broad.mit.edu 37 17 72368403 72368403 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr17:72368403G>T ENST00000335666.4 + 4 1101 c.1053G>T c.(1051-1053)cgG>cgT p.R351R NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 351 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity p.R351R(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 TGCAGCCCCGGGTGGGCAAGA 0.632000 14 43 2.61681e-11 4.91961e-11 0.002450 1 0 HCRTR2 3062 broad.mit.edu 37 6 55113436 55113436 + Splice_Site SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr6:55113436G>A ENST00000370862.3 + 2 559 c.e2-1 NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 feeding behavior integral to plasma membrane neuropeptide receptor activity p.?(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TTTCAAATTAGTTTGTGTGGC 0.393000 18 95 0 0 0.007413 0 0 SLC35A2 7355 broad.mit.edu 37 X 48762073 48762073 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:48762073C>A ENST00000445167.2 - 4 542 c.523G>T c.(523-525)Gca>Tca p.A175S SLC35A2_ENST00000376515.3_Missense_Mutation_p.A151S|SLC35A2_ENST00000452555.2_Silent_p.P399P|SLC35A2_ENST00000413561.2_Silent_p.P310P|SLC35A2_ENST00000376529.3_Missense_Mutation_p.A175S|SLC35A2_ENST00000247138.5_Silent_p.P371P|SLC35A2_ENST00000376521.1_Silent_p.P371P NM_001032289.1 NP_001027460.1 P78381 S35A2_HUMAN solute carrier family 35 (UDP-galactose transporter), member A2 0 galactose metabolic process Golgi membrane|integral to membrane|nucleus sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity p.A175S(1)|p.P371P(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2) 15 AAGACAGCTGCGGTGGTGGTG 0.652000 10 35 3.07112e-06 4.49793e-06 0.000978 1 0 SF3B3 23450 broad.mit.edu 37 16 70599102 70599102 + Silent SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr16:70599102C>T ENST00000302516.5 + 19 2809 c.2598C>T c.(2596-2598)atC>atT p.I866I NM_012426.4 NP_036558.3 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3, 130kDa 866 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding p.I866I(1) breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 53 Ovarian(137;0.0694) CCTCTGTGATCCGAGTGATGA 0.542000 26 71 0 0 0.003330 0 0 USP51 158880 broad.mit.edu 37 X 55513306 55513306 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:55513306G>A ENST00000500968.3 - 2 2149 c.2067C>T c.(2065-2067)acC>acT p.T689T USP51_ENST00000586165.1_5'UTR NM_201286.3 NP_958443.1 Q70EK9 UBP51_HUMAN ubiquitin specific peptidase 51 689 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding p.T689T(1) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 AGTCCTCAATGGTAGCCTTGG 0.433000 16 81 0 0 0.003163 0 0 JPH2 57158 broad.mit.edu 37 20 42815287 42815287 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr20:42815287C>A ENST00000372980.3 - 1 931 c.59G>T c.(58-60)gGg>gTg p.G20V JPH2_ENST00000342272.3_Missense_Mutation_p.G20V NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 20 Gly-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane p.G20L(2) NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GGCCTTTCCCCCCTCCCAGCC 0.632000 13 32 4.3838e-07 6.7857e-07 0.001855 1 0 GUCY2F 2986 broad.mit.edu 37 X 108708604 108708604 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:108708604G>C ENST00000218006.2 - 3 1090 c.799C>G c.(799-801)Cat>Gat p.H267D NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 267 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity p.H267D(1) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 TTCAGATCATGAGCACATTCC 0.443000 32 177 0 0 0.003271 0 0 COL14A1 7373 broad.mit.edu 37 8 121381596 121381596 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr8:121381596G>T ENST00000297848.3 + 47 5453 c.5183G>T c.(5182-5184)aGc>aTc p.S1728I COL14A1_ENST00000309791.4_Missense_Mutation_p.S1728I|COL14A1_ENST00000247781.3_Missense_Mutation_p.S1633I NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1728 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging p.S1728I(1) NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CGGCCTGGCAGCCCTGGGCCC 0.582000 16 95 2.23348e-06 3.28043e-06 0.004007 1 0 FAM193A 8603 broad.mit.edu 37 4 2661632 2661632 + Silent SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr4:2661632A>T ENST00000324666.5 + 8 1074 c.723A>T c.(721-723)ccA>ccT p.P241P FAM193A_ENST00000505311.1_Silent_p.P241P|FAM193A_ENST00000502458.1_Silent_p.P265P|FAM193A_ENST00000382839.3_Silent_p.P241P|FAM193A_ENST00000545951.1_Silent_p.P241P NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 241 p.P241P(1) NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 ACCAGCTCCCACTTCAAGTGG 0.557000 21 87 0 0 0.001216 0 0 TFCP2 7024 broad.mit.edu 37 12 51495784 51495784 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr12:51495784C>G ENST00000307660.4 - 10 1652 c.932G>C c.(931-933)aGa>aCa p.R311T TFCP2_ENST00000257915.5_Missense_Mutation_p.R362T|TFCP2_ENST00000548115.1_Missense_Mutation_p.R311T|TFCP2_ENST00000549867.1_Intron NM_001173453.1 NP_001166924.1 Q12800 TFCP2_HUMAN transcription factor CP2 362 DNA-binding. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.R362T(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 23 CACATCATCTCTAGTTAATTT 0.323000 3 85 0 0 0.004672 0 0 PPL 5493 broad.mit.edu 37 16 4940293 4940293 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr16:4940293G>C ENST00000345988.2 - 18 2294 c.2205C>G c.(2203-2205)ttC>ttG p.F735L PPL_ENST00000590782.2_Missense_Mutation_p.F733L NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 735 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton p.F735L(1) breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 GGCCGCGGTGGAAGTGCTCGT 0.607000 6 50 0 0 0.001984 0 0 HOOK3 84376 broad.mit.edu 37 8 42823213 42823213 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr8:42823213G>T ENST00000307602.4 + 11 1178 c.978G>T c.(976-978)aaG>aaT p.K326N NM_032410.3 NP_115786.1 Q86VS8 HOOK3_HUMAN hook microtubule-tethering protein 3 326 cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding p.K326N(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 31 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) ATAAAAAGAAGCTAGAAGACC 0.338000 T RET papillary thyroid 28 57 2.65835e-16 5.75048e-16 0.007291 1 0 PCDH18 54510 broad.mit.edu 37 4 138453002 138453002 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr4:138453002C>A ENST00000344876.4 - 1 627 c.241G>T c.(241-243)Gag>Tag p.E81* PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Nonsense_Mutation_p.E81* NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 81 Cadherin 1. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.E81*(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) CCATTATCCTCGTTTACTACA 0.428000 25 153 4.26978e-12 8.20623e-12 0.003330 1 0 ASB11 140456 broad.mit.edu 37 X 15306059 15306059 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:15306059G>T ENST00000537676.1 - 6 800 c.728C>A c.(727-729)gCg>gAg p.A243E ASB11_ENST00000380470.3_Missense_Mutation_p.A247E|ASB11_ENST00000344384.4_Missense_Mutation_p.A243E|ASB11_ENST00000480796.1_Missense_Mutation_p.A264E Q8WXH4 ASB11_HUMAN ankyrin repeat and SOCS box containing 11 264 intracellular signal transduction p.A264E(2)|p.A243E(1) breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1) 16 Hepatocellular(33;0.183) CAGATCAAGCGCACTTTTGCC 0.542000 18 68 7.07596e-05 9.70364e-05 0.006122 1 0 DNAH10 196385 broad.mit.edu 37 12 124362333 124362333 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr12:124362333G>T ENST00000409039.3 + 47 7921 c.7896G>T c.(7894-7896)acG>acT p.T2632T NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2632 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.T1224T(1)|p.T2632T(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CATTCTGCACGCTAGCACTTT 0.453000 18 111 6.49762e-13 1.28708e-12 0.006122 1 0 CYYR1 116159 broad.mit.edu 37 21 27945291 27945291 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr21:27945291G>A ENST00000435845.2 - 1 312 c.293C>T c.(292-294)cCc>cTc p.P98L CYYR1_ENST00000400043.3_5'UTR|CYYR1_ENST00000299340.4_5'UTR Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 139 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 TGGAGCGAAGGGAGAGCCCGG 0.642000 9 34 0 0 0.000978 0 0 ASTN1 460 broad.mit.edu 37 1 176915238 176915238 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:176915238C>A ENST00000367654.2 - 13 2110 c.2097G>T c.(2095-2097)aaG>aaT p.K699N ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.K691N|ASTN1_ENST00000367657.3_Missense_Mutation_p.K691N|ASTN1_ENST00000361833.2_Missense_Mutation_p.K691N O14525 ASTN1_HUMAN astrotactin 1 699 EGF-like 3. cell migration|neuron cell-cell adhesion integral to membrane p.K691N(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CCACACCAAGCTTGTAGTCCT 0.517000 20 97 0.00121646 0.00156057 0.001216 1 0 PCDHGA5 56110 broad.mit.edu 37 5 140744069 140744069 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr5:140744069G>T ENST00000518069.1 + 1 172 c.172G>T c.(172-174)Gag>Tag p.E58* PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 p.E58*(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGCCCCAGGAGCTGGCGGA 0.647000 9 99 0.000978159 0.00126427 0.000978 1 0 KIF16B 55614 broad.mit.edu 37 20 16352333 16352333 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr20:16352333T>A ENST00000354981.2 - 21 3581 c.3424A>T c.(3424-3426)Agt>Tgt p.S1142C KIF16B_ENST00000378003.2_Missense_Mutation_p.S368C|KIF16B_ENST00000355755.3_Missense_Mutation_p.S1142C|KIF16B_ENST00000408042.1_Missense_Mutation_p.S1142C NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 1142 cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity p.S1142C(2) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 GCAGATGTACTGCAGCCTTCA 0.388000 26 61 0 0 0.006320 0 0 KIF15 56992 broad.mit.edu 37 3 44867888 44867888 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr3:44867888G>T ENST00000326047.4 + 22 2871 c.2722G>T c.(2722-2724)Gca>Tca p.A908S KIF15_ENST00000425755.1_Missense_Mutation_p.A543S NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 908 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity p.A908S(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) GCTTCTTGAGGCAGAAAAAGA 0.318000 8 46 7.48243e-07 1.13777e-06 0.006214 1 0 NEB 4703 broad.mit.edu 37 2 152487674 152487674 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:152487674C>A ENST00000427231.2 - 66 9803 c.9601G>T c.(9601-9603)Gct>Tct p.A3201S NEB_ENST00000397345.3_Missense_Mutation_p.A3201S|NEB_ENST00000604864.1_Missense_Mutation_p.A3201S|NEB_ENST00000603639.1_Missense_Mutation_p.A3201S|NEB_ENST00000409198.1_Missense_Mutation_p.A2958S|NEB_ENST00000172853.10_Intron NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 3201 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle p.A3201S(1) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ATGTTGAGAGCATTGTTCTTG 0.418000 51 280 6.3237e-29 1.55683e-28 0.003610 1 0 ZFC3H1 196441 broad.mit.edu 37 12 72056983 72056983 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr12:72056983C>A ENST00000378743.3 - 1 766 c.408G>T c.(406-408)cgG>cgT p.R136R ZFC3H1_ENST00000552037.1_Silent_p.R136R|ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000548100.1_Silent_p.R136R|THAP2_ENST00000308086.2_5'UTR NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 136 RNA processing intracellular metal ion binding p.R136R(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CGAGGTGGCTCCGCTCCCAGA 0.647000 12 86 0.00010058 0.000136482 0.001368 1 0 HS6ST2 90161 broad.mit.edu 37 X 131803196 131803196 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:131803196C>A ENST00000521489.1 - 5 1427 c.1012G>T c.(1012-1014)Gca>Tca p.A338S HS6ST2-AS1_ENST00000455269.1_RNA|HS6ST2_ENST00000370833.2_Missense_Mutation_p.A192S|HS6ST2_ENST00000406696.3_Intron|HS6ST2_ENST00000370836.2_Intron|HS6ST2_ENST00000370837.1_Intron NM_001077188.1 NP_001070656.1 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 316 integral to membrane sulfotransferase activity p.A338S(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2) 9 Acute lymphoblastic leukemia(192;0.000127) TTGGCGCCTGCGTTAGTGTTT 0.428000 9 64 0.00621372 0.00777843 0.006214 1 0 NAV2 89797 broad.mit.edu 37 11 19735466 19735466 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr11:19735466G>T ENST00000396085.1 + 1 586 c.225G>T c.(223-225)ccG>ccT p.P75P NAV2_ENST00000396087.3_Silent_p.P75P|NAV2_ENST00000349880.4_Silent_p.P75P|NAV2_ENST00000360655.4_Intron NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 75 nucleus ATP binding|helicase activity p.P75P(1) NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 AGGGGCTCCCGCTGCGGAAGA 0.602000 10 48 2.74318e-10 4.95882e-10 0.006214 1 0 ORAI2 80228 broad.mit.edu 37 7 102079390 102079390 + Splice_Site SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr7:102079390G>T ENST00000356387.2 + 3 222 c.e3-1 ORAI2_ENST00000478730.1_Splice_Site|ORAI2_ENST00000473939.1_Splice_Site|ORAI2_ENST00000488996.1_Intron|ORAI2_ENST00000403646.3_Splice_Site NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 integral to membrane protein binding autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 CCCACCCTTAGCCTGGCTCCC 0.582000 23 106 1.5548e-18 3.51018e-18 0.005443 1 0 POT1 25913 broad.mit.edu 37 7 124475445 124475445 + Nonsense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr7:124475445T>A ENST00000357628.3 - 15 1991 c.1393A>T c.(1393-1395)Aaa>Taa p.K465* POT1_ENST00000393329.1_Nonsense_Mutation_p.K334* NM_015450.2 NP_056265.2 Q9NUX5 POTE1_HUMAN protection of telomeres 1 465 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity p.K465*(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 TTCGAGAGTTTGCAAATTTCA 0.363000 21 74 0 0 0.002299 0 0 GBA3 57733 broad.mit.edu 37 4 22729405 22729405 + RNA SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr4:22729405C>A ENST00000511446.1 + 0 61 GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA NM_001277225.1 NP_001264154.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CCTGCAGTATCAAAAAGTCCA 0.393000 52 212 1.81118e-26 4.41689e-26 0.003610 1 0 BCOR 54880 broad.mit.edu 37 X 39933627 39933627 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:39933627G>T ENST00000342274.4 - 4 1334 c.972C>A c.(970-972)ggC>ggA p.G324G BCOR_ENST00000378455.4_Silent_p.G324G|BCOR_ENST00000397354.3_Silent_p.G324G|BCOR_ENST00000378444.4_Silent_p.G324G NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 324 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding p.L325M(1) breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 CCCCCGGCAGGCCACTGGTGA 0.647000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 5 38 0.00116845 0.0015027 0.001168 1 0 TFAP2D 83741 broad.mit.edu 37 6 50696931 50696931 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr6:50696931C>A ENST00000008391.3 + 5 1017 c.789C>A c.(787-789)cgC>cgA p.R263R TFAP2D_ENST00000492804.1_3'UTR NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 263 DNA binding|sequence-specific DNA binding transcription factor activity p.R263P(1) NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) ATGGGGGCCGCTGCCTGAGAG 0.413000 24 147 1.1804e-14 2.44106e-14 0.003954 1 0 CBX6 23466 broad.mit.edu 37 22 39262426 39262426 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr22:39262426C>A ENST00000407418.3 - 5 1150 c.1027G>T c.(1027-1029)Gcc>Tcc p.A343S CBX6_ENST00000216083.6_Missense_Mutation_p.A325S O95503 CBX6_HUMAN chromobox homolog 6 343 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex p.A343S(1) large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 Melanoma(58;0.04) GGCTCAGGGGCCGTGGGAGGT 0.716000 7 29 8.12818e-05 0.000111171 0.001984 1 0 CNOT3 4849 broad.mit.edu 37 19 54647235 54647235 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr19:54647235G>A ENST00000406403.1 + 3 1754 c.151G>A c.(151-153)Gag>Aag p.E51K CNOT3_ENST00000221232.5_Missense_Mutation_p.E51K|CNOT3_ENST00000358389.3_5'UTR O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 51 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding p.E51K(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTAAAGAAGGAGATTAAGAA 0.552000 18 77 0 0 0.007413 0 0 TRABD2A 129293 broad.mit.edu 37 2 85051250 85051250 + Silent SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:85051250C>T ENST00000335459.5 - 5 1219 c.1014G>A c.(1012-1014)ccG>ccA p.P338P TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000409520.2_Silent_p.P387P NM_001080824.1 NP_001074293.1 TraB domain containing 2A p.P387P(1)|p.P338P(1) CTTCTGGTGCCGGTACTTCCA 0.587000 7 27 0 0 0.004482 0 0 SNAI1 6615 broad.mit.edu 37 20 48600678 48600678 + Nonsense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr20:48600678C>T ENST00000244050.2 + 2 461 c.400C>T c.(400-402)Caa>Taa p.Q134* NM_005985.3 NP_005976.2 O95863 SNAI1_HUMAN snail family zinc finger 1 134 Required for FBXL14-triggered degradation. epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|zinc ion binding p.Q134*(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2) 17 BRCA - Breast invasive adenocarcinoma(9;4.03e-06) AGGCTTGGGCCAAGTGCCCAA 0.607000 23 74 0 0 0.001882 0 0 WDR70 55100 broad.mit.edu 37 5 37703125 37703125 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr5:37703125G>A ENST00000265107.4 + 13 1508 c.1352G>A c.(1351-1353)gGc>gAc p.G451D NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 451 central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGTGGCAGCGGCAAACTTGTT 0.413000 8 806 0 0 0.003080 0 0 PDK4 5166 broad.mit.edu 37 7 95216781 95216781 + Silent SNP T T C rs148379762 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr7:95216781T>C ENST00000005178.5 - 9 1127 c.930A>G c.(928-930)acA>acG p.T310T NM_002612.3 NP_002603.1 Q16654 PDK4_HUMAN pyruvate dehydrogenase kinase, isozyme 4 310 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity p.T310T(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) CAGTGGAGTATGTATAACTAA 0.393000 23 83 0 0 0.003330 0 0 EPHA8 2046 broad.mit.edu 37 1 22920043 22920043 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:22920043C>A ENST00000166244.3 + 7 1539 c.1467C>A c.(1465-1467)acC>acA p.T489T NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 489 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity p.T489T(1) breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GCTACTCCACCCTCAAGGCCG 0.697000 7 23 2.7689e-08 4.5882e-08 0.001984 1 0 SMARCA1 6594 broad.mit.edu 37 X 128657272 128657272 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:128657272C>A ENST00000371122.4 - 1 205 c.76G>T c.(76-78)Gac>Tac p.D26Y SMARCA1_ENST00000371123.1_Missense_Mutation_p.D26Y|SMARCA1_ENST00000371121.3_Missense_Mutation_p.D26Y NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 26 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding p.D26Y(1) biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 GGCTGCTCGTCCTCTATGACC 0.697000 14 61 2.31682e-05 3.24606e-05 0.003163 1 0 GPR50 9248 broad.mit.edu 37 X 150349618 150349618 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:150349618C>A ENST00000218316.3 + 2 1632 c.1563C>A c.(1561-1563)ccC>ccA p.P521P NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 521 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity p.P521P(1) breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) CTGACTATCCCAAGCCTGCCA 0.612000 28 80 2.40579e-17 5.29274e-17 0.006230 1 0 GREB1 9687 broad.mit.edu 37 2 11732998 11732998 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:11732998C>T ENST00000381486.2 + 11 1742 c.1442C>T c.(1441-1443)gCg>gTg p.A481V GREB1_ENST00000234142.5_Missense_Mutation_p.A481V NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 481 integral to membrane p.A481V(1) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TACCAGCAGGCGCCGCCGCAG 0.731000 4 14 0 0 0.000602 0 0 ZNF133 7692 broad.mit.edu 37 20 18297153 18297153 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr20:18297153G>T ENST00000377671.3 + 7 2214 c.1655G>T c.(1654-1656)aGg>aTg p.R552M ZNF133_ENST00000401790.1_Missense_Mutation_p.R553M|ZNF133_ENST00000316358.4_Missense_Mutation_p.R553M|ZNF133_ENST00000402618.2_Missense_Mutation_p.R490M|ZNF133_ENST00000538547.1_Missense_Mutation_p.R458M|ZNF133_ENST00000535822.1_Missense_Mutation_p.R458M|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000396026.3_Missense_Mutation_p.R556M NM_001083330.1|NM_003434.4 NP_001076799.1|NP_003425.2 P52736 ZN133_HUMAN zinc finger protein 133 553 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R552M(1) autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 TACATGTGCAGGCAGTGTGGA 0.582000 11 73 0.00010058 0.000136482 0.001368 1 0 SAGE1 55511 broad.mit.edu 37 X 134983834 134983834 + Nonsense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:134983834G>A ENST00000535938.1 + 3 371 c.204G>A c.(202-204)tgG>tgA p.W68* SAGE1_ENST00000537770.1_Nonsense_Mutation_p.W68*|SAGE1_ENST00000324447.3_Nonsense_Mutation_p.W68*|SAGE1_ENST00000370709.3_Nonsense_Mutation_p.W68* NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 68 p.W68*(1) breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) TGTCCTCGTGGTTAGACAAAC 0.428000 65 298 0 0 0.003610 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 4 72 0 0 0.001168 0 0 CACNA1D 776 broad.mit.edu 37 3 53752403 53752403 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr3:53752403G>T ENST00000288139.3 + 10 1584 c.1466G>T c.(1465-1467)tGt>tTt p.C489F CACNA1D_ENST00000350061.5_Missense_Mutation_p.C489F|CACNA1D_ENST00000422281.2_Missense_Mutation_p.C489F NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 489 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity p.C489F(1) breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CGAGGCTGCTGTGGAAGTCTC 0.597000 4 50 0.00024832 0.000330029 0.000248 1 0 LRP1B 53353 broad.mit.edu 37 2 141093256 141093256 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:141093256C>T ENST00000389484.3 - 78 13015 c.12044G>A c.(12043-12045)gGc>gAc p.G4015D NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4015 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.G4015D(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GCAGTTGGGGCCATTCAGCTG 0.418000 TSP Lung(27;0.18) 51 149 0 0 0.003610 0 0 BRINP3 339479 broad.mit.edu 37 1 190068080 190068080 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:190068080G>C ENST00000367462.3 - 8 1600 c.1369C>G c.(1369-1371)Cgc>Ggc p.R457G FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R355G NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 457 extracellular region p.R457G(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) CAGCGGGTGCGGTTGTCTGGT 0.622000 24 113 0 0 0.002299 0 0 BSN 8927 broad.mit.edu 37 3 49694474 49694474 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr3:49694474G>A ENST00000296452.4 + 5 7599 c.7485G>A c.(7483-7485)ttG>ttA p.L2495L NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2495 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding p.L2495L(1) 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) CTGCTGAGTTGGCCCAGAATG 0.637000 8 32 0 0 0.003080 0 0 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C A rs28934575 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr17:7577548C>A ENST00000420246.2 - 7 865 c.733G>T c.(733-735)Ggc>Tgc p.G245C TP53_ENST00000359597.4_Missense_Mutation_p.G245C|TP53_ENST00000269305.4_Missense_Mutation_p.G245C|TP53_ENST00000445888.2_Missense_Mutation_p.G245C|TP53_ENST00000413465.2_Missense_Mutation_p.G245C|TP53_ENST00000455263.2_Missense_Mutation_p.G245C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 245 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGTTCATGCCGCCCATGCAG 0.577000 G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 38 63 2.75727e-19 6.3356e-19 0.004878 1 0 SIRPA 140885 broad.mit.edu 37 20 1895886 1895886 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr20:1895886C>A ENST00000358771.4 + 2 373 c.221C>A c.(220-222)cCa>cAa p.P74Q SIRPA_ENST00000356025.3_Missense_Mutation_p.P74Q|SIRPA_ENST00000400068.3_Missense_Mutation_p.P74Q NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 74 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding p.P74Q(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GGAGCTGGACCAGGCCGGGAA 0.537000 20 100 1.55795e-14 3.19626e-14 0.001882 1 0 SLC1A3 6507 broad.mit.edu 37 5 36608599 36608599 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr5:36608599G>A ENST00000265113.4 + 2 550 c.74G>A c.(73-75)cGc>cAc p.R25H SLC1A3_ENST00000506725.1_3'UTR|SLC1A3_ENST00000381918.3_Missense_Mutation_p.R25H NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 25 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity p.R25H(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) GTCCGTAAACGCACACTTTTG 0.463000 21 1560 0 0 0.006214 0 0 FAM83G 644815 broad.mit.edu 37 17 18907267 18907267 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr17:18907267C>T ENST00000388995.6 - 2 311 c.88G>A c.(88-90)Gag>Aag p.E30K SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.E30K|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.E30K|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 30 p.E30K(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 AGCCGCTGCTCCTCGCTGTAG 0.652000 18 46 0 0 0.004990 0 0 LRP6 4040 broad.mit.edu 37 12 12311984 12311984 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr12:12311984C>A ENST00000261349.4 - 12 2646 c.2570G>T c.(2569-2571)cGt>cTt p.R857L LRP6_ENST00000543091.1_Missense_Mutation_p.R857L NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 857 Beta-propeller 3. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding p.R857L(1)|p.R857H(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) TTTGTTGGCACGCTCAATGCT 0.488000 14 72 1.3612e-06 2.02808e-06 0.003163 1 0 PRAMEF6 440561 broad.mit.edu 37 1 13001343 13001343 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:13001343T>C ENST00000376189.1 - 3 439 c.340A>G c.(340-342)Atg>Gtg p.M114V PRAMEF6_ENST00000415464.2_Missense_Mutation_p.M114V|PRAMEF6_ENST00000376192.5_Intron NM_001010889.2 NP_001010889.1 Q5VXH4 PRAM6_HUMAN PRAME family member 6 114 p.M114V(1) NS(1)|kidney(1)|lung(5)|urinary_tract(2) 9 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GACCAAACCATCCAGAAGTTC 0.483000 39 561 0 0 0.003610 0 0 SOCS6 9306 broad.mit.edu 37 18 67992886 67992886 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr18:67992886G>T ENST00000397942.3 + 2 1298 c.982G>T c.(982-984)Gga>Tga p.G328* SOCS6_ENST00000582322.1_Nonsense_Mutation_p.G328* NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 328 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm p.G328*(1) NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) GAACTTCAGTGGACTCACTGG 0.493000 12 53 6.40141e-05 8.80194e-05 0.000978 1 0 PCDHB7 56129 broad.mit.edu 37 5 140553068 140553068 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr5:140553068G>T ENST00000231137.3 + 1 826 c.652G>T c.(652-654)Ggc>Tgc p.G218C NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 218 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G218S(1)|p.G218C(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTAGACGGCGGCTCTCCTCC 0.537000 11 58 2.27111e-07 3.62396e-07 0.001368 1 0 AMER1 139285 broad.mit.edu 37 X 63410828 63410828 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:63410828C>A ENST00000330258.3 - 2 2611 c.2339G>T c.(2338-2340)gGg>gTg p.G780V AMER1_ENST00000403336.1_Missense_Mutation_p.G780V|AMER1_ENST00000374869.3_Missense_Mutation_p.G780V NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67)|p.G780V(2) AAAGAGGTTCCCATTGCTGGT 0.512000 11 35 2.80697e-09 4.80532e-09 0.000978 1 0 IRS4 8471 broad.mit.edu 37 X 107977841 107977841 + Missense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:107977841A>T ENST00000372129.2 - 1 1810 c.1734T>A c.(1732-1734)gaT>gaA p.D578E NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 578 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity p.D578E(1) NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 AGCCATGGCCATCTCCAGGTC 0.612000 61 277 0 0 0.003610 0 0 OBSL1 23363 broad.mit.edu 37 2 220422763 220422763 + Missense_Mutation SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr2:220422763A>G ENST00000404537.1 - 11 3628 c.3572T>C c.(3571-3573)gTg>gCg p.V1191A OBSL1_ENST00000265318.4_Missense_Mutation_p.V1099A|OBSL1_ENST00000603926.1_Missense_Mutation_p.V1191A|OBSL1_ENST00000373876.1_Missense_Mutation_p.V1191A|OBSL1_ENST00000265317.5_Missense_Mutation_p.V182A NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 1191 Ig-like 10. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity p.V1191A(1) Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) GCTCAGCACCACTGGCTCCCC 0.647000 5 36 0 0 0.000602 0 0 JPH2 57158 broad.mit.edu 37 20 42815288 42815288 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr20:42815288C>A ENST00000372980.3 - 1 930 c.58G>T c.(58-60)Ggg>Tgg p.G20W JPH2_ENST00000342272.3_Missense_Mutation_p.G20W NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 20 Gly-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane p.G20L(2) NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GCCTTTCCCCCCTCCCAGCCC 0.627000 13 32 7.93312e-07 1.19575e-06 0.002450 1 0 FAM45A 404636 broad.mit.edu 37 10 120877099 120877099 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr10:120877099T>A ENST00000361432.2 + 4 427 c.401T>A c.(400-402)aTa>aAa p.I134K FAM45A_ENST00000535029.1_Missense_Mutation_p.I134K|FAM45A_ENST00000544016.1_Intron|FAM45A_ENST00000489988.1_3'UTR NM_207009.2 NP_996892.1 Q8TCE6 FA45A_HUMAN family with sequence similarity 45, member A 134 p.I134K(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 14 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0293) ACAAAGGGGATATGCCAGAGT 0.433000 26 137 0 0 0.004656 0 0 LECT1 11061 broad.mit.edu 37 13 53286963 53286963 + Silent SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr13:53286963A>T ENST00000448904.2 - 5 620 c.510T>A c.(508-510)ctT>ctA p.L170L LECT1_ENST00000377962.3_Silent_p.L170L NM_001011705.1|NM_007015.2 NP_001011705.1|NP_008946.1 O75829 LECT1_HUMAN leukocyte cell derived chemotaxin 1 170 BRICHOS. cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane p.L170L(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) CCACCCAGATAAGAGAATTTT 0.398000 30 94 0 0 0.001512 0 0 SLC28A1 9154 broad.mit.edu 37 15 85448795 85448795 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr15:85448795G>T ENST00000394573.1 + 8 831 c.629G>T c.(628-630)gGa>gTa p.G210V SLC28A1_ENST00000286749.3_Missense_Mutation_p.G210V|SLC28A1_ENST00000537624.1_Missense_Mutation_p.G210V|SLC28A1_ENST00000537703.1_Missense_Mutation_p.G132V|SLC28A1_ENST00000538177.1_Missense_Mutation_p.G210V|SLC28A1_ENST00000537216.1_Missense_Mutation_p.G210V NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 210 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding p.G210V(1) breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) GTGTCTTGGGGACTTGGACTG 0.582000 15 54 1.02788e-11 1.94658e-11 0.004990 1 0 PLCB2 5330 broad.mit.edu 37 15 40586546 40586546 + Missense_Mutation SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr15:40586546A>G ENST00000260402.3 - 19 2231 c.1982T>C c.(1981-1983)aTg>aCg p.M661T PLCB2_ENST00000557821.1_Missense_Mutation_p.M657T|PLCB2_ENST00000456256.2_Missense_Mutation_p.M661T NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 661 PI-PLC Y-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.M657T(1)|p.M661T(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) CGGCCGGCGCATGAACTCATG 0.582000 15 56 0 0 0.002450 0 0 CYBB 1536 broad.mit.edu 37 X 37655268 37655268 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:37655268C>A ENST00000378588.4 + 6 615 c.548C>A c.(547-549)aCg>aAg p.T183K TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.T151K NM_000397.3 NP_000388.2 P04839 CY24B_HUMAN cytochrome b-245, beta polypeptide 183 Ferric oxidoreductase. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity p.T183K(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2) 32 GTTGTCATCACGCTGTGCCTC 0.453000 13 71 9.31168e-06 1.34099e-05 0.001855 1 0 MYOF 26509 broad.mit.edu 37 10 95066741 95066741 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr10:95066741C>A ENST00000371501.4 - 54 6287 c.6165G>T c.(6163-6165)aaG>aaT p.K2055N MYOF_ENST00000371502.4_Missense_Mutation_p.K2045N|MYOF_ENST00000359263.4_Missense_Mutation_p.K2055N|MYOF_ENST00000358334.5_Missense_Mutation_p.K2042N Q9NZM1 MYOF_HUMAN myoferlin 2055 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding p.K2055N(1) NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GCTTTACAATCTTCATTGACA 0.348000 25 135 1.42536e-11 2.68945e-11 0.004656 1 0 CXorf56 63932 broad.mit.edu 37 X 118675326 118675326 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:118675326G>C ENST00000320339.4 - 6 695 c.424C>G c.(424-426)Cgc>Ggc p.R142G CXorf56_ENST00000536133.1_Missense_Mutation_p.R177G|CXorf56_ENST00000469448.1_5'UTR|CXorf56_ENST00000486230.1_Missense_Mutation_p.R191G|CXorf56_ENST00000371594.4_Missense_Mutation_p.R191G|CXorf56_ENST00000476164.1_Missense_Mutation_p.R191G NM_001170569.1 NP_001164040.1 Q9H5V9 CX056_HUMAN chromosome X open reading frame 56 191 protein binding p.R191G(1) cervix(1)|endometrium(2)|lung(7) 10 ATGCCTTTGCGCTCCAGCTGT 0.493000 57 216 0 0 0.003610 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520803 33520803 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr17:33520803G>T ENST00000297307.5 - 1 609 c.524C>A c.(523-525)cCt>cAt p.P175H NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 175 integral to membrane p.P175H(1) CCAGAGTCCAGGTCCCACAAT 0.607000 51 218 2.81731e-22 6.68141e-22 0.003610 1 0 ZNF397 84307 broad.mit.edu 37 18 32822650 32822650 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr18:32822650G>C ENST00000330501.7 + 2 369 c.216G>C c.(214-216)caG>caC p.Q72H ZNF397_ENST00000355632.4_Missense_Mutation_p.Q72H|ZNF397_ENST00000261333.6_Missense_Mutation_p.Q72H|ZNF397_ENST00000585800.1_Missense_Mutation_p.Q72H|ZNF397_ENST00000591206.1_Missense_Mutation_p.Q72H|ZNF397_ENST00000592264.1_Missense_Mutation_p.Q72H|ZNF397_ENST00000589420.1_Intron NM_001135178.2 NP_001128650.1 Q8NF99 ZN397_HUMAN zinc finger protein 397 72 SCAN box. viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Q72H(2) breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1) 12 GCCGACTCCAGGAACTTTGCT 0.512000 13 71 0 0 0.001855 0 0 GPRC6A 222545 broad.mit.edu 37 6 117130516 117130516 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr6:117130516C>A ENST00000310357.3 - 2 480 c.459G>T c.(457-459)atG>atT p.M153I GPRC6A_ENST00000530250.1_Missense_Mutation_p.M153I|GPRC6A_ENST00000368549.3_Missense_Mutation_p.M153I NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 153 response to amino acid stimulus G-protein coupled receptor activity p.M153I(1) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TGGAGACAGCCATAGTTATTT 0.413000 18 122 6.44725e-10 1.14544e-09 0.002299 1 0 LINC00969 440993 broad.mit.edu 37 3 195404651 195404651 + RNA SNP C C G rs1996904 by1000genomes TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr3:195404651C>G ENST00000445430.1 + 0 1508 TGTCACGAATCTTGACAAATT 0.418000 3 111 0 0 0.000248 0 0 PODN 127435 broad.mit.edu 37 1 53542969 53542969 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:53542969G>T ENST00000371500.3 + 8 1117 c.776G>T c.(775-777)cGc>cTc p.R259L PODN_ENST00000312553.5_Missense_Mutation_p.R278L|PODN_ENST00000395871.2_Intron|RP11-334A14.5_ENST00000447867.1_RNA NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 230 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding p.R278L(1)|p.R278H(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AACTTCCTGCGCCACGTGCCC 0.637000 27 147 8.24728e-16 1.75467e-15 0.004656 1 0 TRIML2 205860 broad.mit.edu 37 4 189012705 189012705 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr4:189012705C>G ENST00000512729.1 - 7 1360 c.986G>C c.(985-987)gGg>gCg p.G329A TRIML2_ENST00000326754.3_Missense_Mutation_p.G354A NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 329 B30.2/SPRY. ligase activity p.G329A(1) central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) TGATATCTGCCCGTGTTCGCA 0.507000 38 176 0 0 0.006999 0 0 INADL 10207 broad.mit.edu 37 1 62626589 62626589 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:62626589G>T ENST00000371158.2 + 43 5502 c.5388G>T c.(5386-5388)ctG>ctT p.L1796L NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1796 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding p.L1796L(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 GGGAGCAGCTGCAGATGACGG 0.408000 16 66 1.67942e-08 2.80083e-08 0.006122 1 0 KIF2B 84643 broad.mit.edu 37 17 51901012 51901012 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr17:51901012G>T ENST00000268919.4 + 1 774 c.618G>T c.(616-618)ctG>ctT p.L206L NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 206 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.L206L(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TCTCAGTCCTGGAGCCCCCGC 0.552000 10 64 1.58986e-06 2.35519e-06 0.000673 1 0 TSR2 90121 broad.mit.edu 37 X 54466893 54466893 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:54466893G>T ENST00000375151.4 + 1 60 c.39G>T c.(37-39)cgG>cgT p.R13R NM_058163.1 NP_477511.1 Q969E8 TSR2_HUMAN TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) 13 rRNA processing protein binding p.R13R(1) breast(1)|endometrium(3)|lung(2) 6 CTCTTTTCCGGGCTGGGGTCT 0.697000 4 16 0.00024832 0.000330029 0.000248 1 0 PI16 221476 broad.mit.edu 37 6 36930861 36930861 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr6:36930861T>A ENST00000373674.3 + 5 1071 c.743T>A c.(742-744)gTc>gAc p.V248D PI16_ENST00000491324.1_Intron NM_001199159.1|NM_153370.2 NP_001186088.1|NP_699201.2 Q6UXB8 PI16_HUMAN peptidase inhibitor 16 248 extracellular region|integral to membrane peptidase inhibitor activity p.V248D(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GTAACAGAGGTCTCAGGCTCC 0.577000 22 131 0 0 0.002299 0 0 ADAM9 8754 broad.mit.edu 37 8 38948862 38948862 + Silent SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr8:38948862A>G ENST00000487273.2 + 20 2373 c.2295A>G c.(2293-2295)gaA>gaG p.E765E NM_003816.2 NP_003807.1 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 765 Missing (in Ref. 2; no nucleotide entry). 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 p.E765E(1) 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) CTCCCAGAGAAGTTGTAAGTA 0.348000 19 153 0 0 0.006122 0 0 FAM194A 131831 broad.mit.edu 37 3 150421307 150421307 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr3:150421307G>C ENST00000295910.6 - 1 431 c.379C>G c.(379-381)Ccc>Gcc p.P127A FAM194A_ENST00000491361.1_Intron NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 127 p.P127A(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GTGCTGGAGGGTGGGCTTGCG 0.667000 7 55 0 0 0.001984 0 0 ANO3 63982 broad.mit.edu 37 11 26664731 26664731 + Silent SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr11:26664731T>C ENST00000256737.3 + 23 3130 c.2278T>C c.(2278-2280)Ttg>Ctg p.L760L ANO3_ENST00000537978.1_Silent_p.L744L|ANO3_ENST00000531568.1_Silent_p.L614L|ANO3_ENST00000525139.1_Silent_p.L744L NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 760 chloride channel complex chloride channel activity p.L760L(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 TTTTGCAGTTTTGCAATTTGG 0.343000 24 86 0 0 0.003954 0 0 XIST 7503 broad.mit.edu 37 X 73064562 73064562 + RNA SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chrX:73064562T>C ENST00000429829.1 - 0 8026 NR_001564.2 GCCAGGAAAATGGGCCTTGGT 0.463000 18 98 0 0 0.007413 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 30 0 0 0.004672 0 0 KCNH5 27133 broad.mit.edu 37 14 63447817 63447817 + Nonsense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr14:63447817T>A ENST00000322893.7 - 6 983 c.715A>T c.(715-717)Aaa>Taa p.K239* KCNH5_ENST00000420622.2_Nonsense_Mutation_p.K239*|KCNH5_ENST00000394964.2_Nonsense_Mutation_p.K181*|KCNH5_ENST00000394968.1_Nonsense_Mutation_p.K181* NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 239 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity p.K181*(1)|p.K239*(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TGCTTTGTTTTGAAGGAAACA 0.368000 7 48 0 0 0.001984 0 0 JUN 3725 broad.mit.edu 37 1 59247873 59247873 + Frame_Shift_Del DEL C C - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:59247873delC ENST00000371222.2 - 1 1912 c.870delG c.(868-870)cafs p.Q290fs NM_002228.3 NP_002219.1 P05412 JUN_HUMAN jun proto-oncogene 290 Leucine-zipper. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|kidney(2)|lung(5)|skin(1) 10 all_cancers(7;8.55e-07) Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570) GCTCCGAGTTCTGAGCTTTCA 0.542 A sarcoma OREG0013518 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 173 --- --- --- --- COL11A1 1301 broad.mit.edu 37 1 103355036 103355036 + Frame_Shift_Del DEL C C - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:103355036delC ENST00000358392.2 - 59 4792 c.4475delG c.(4474-4476)gafs p.G1492fs COL11A1_ENST00000370096.3_Frame_Shift_Del_p.G1480fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.G1364fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.G1441fs NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1480 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCCTGGAGATCCTTGAGTTCC 0.458 19 98 --- --- --- --- NIPBL 25836 broad.mit.edu 37 5 37049317 37049317 + Frame_Shift_Del DEL T T - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:37049317delT ENST00000282516.8 + 40 7367 c.6868delT c.(6868-6870)ttfs p.F2291fs NIPBL_ENST00000448238.2_Frame_Shift_Del_p.F2291fs NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2291 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GCTTGAGGCATTTTTTCACAC 0.403 7 2137 --- --- --- --- IFNA7 3444 broad.mit.edu 37 9 21202041 21202041 + Frame_Shift_Del DEL C C - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr9:21202041delC ENST00000239347.3 - 1 163 c.124delG c.(124-126)cafs p.A42fs NM_021057.2 NP_066401.2 P01567 IFNA7_HUMAN interferon, alpha 7 42 blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6) 12 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CCCATTTGTGCCAGGAGTATC 0.512 49 223 --- --- --- --- SWAP70 23075 broad.mit.edu 37 11 9759806 9759806 + Frame_Shift_Del DEL G G - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:9759806delG ENST00000318950.6 + 8 1230 c.1127delG c.(1126-1128)ccfs p.R376fs SWAP70_ENST00000447399.2_Frame_Shift_Del_p.R318fs NM_015055.2 NP_055870.2 Q9UH65 SWP70_HUMAN SWAP switching B-cell complex 70kDa subunit 376 cytoplasm|lamellipodium|nucleus|plasma membrane calcium ion binding|DNA binding NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 11 all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649) GAAAAGAAACGCCTTCAGACT 0.478 16 76 --- --- --- --- TSKU 25987 broad.mit.edu 37 11 76506673 76506675 + In_Frame_Del DEL CTG CTG - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:76506673_76506675delCTG ENST00000527881.1 + 2 1039_1041 c.13_15delCTG c.(13-15)del p.L9del TSKU_ENST00000333090.4_In_Frame_Del_p.L9del Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 9 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) GCCGTGGCCCCTGCTGCTGCTGC 0.616 8 108 --- --- --- --- ZIC2 7546 broad.mit.edu 37 13 100635008 100635010 + In_Frame_Del DEL CCA CCA - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr13:100635008_100635010delCCA ENST00000376335.3 + 1 983_985 c.690_692delCCA c.(688-693)gcc>gc p.AH230del NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 230 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-Ala. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAGCCGCGGCccaccaccaccac 0.621 7 82 --- --- --- --- FANCM 57697 broad.mit.edu 37 14 45639873 45639873 + Frame_Shift_Del DEL G G - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:45639873delG ENST00000267430.5 + 12 2169 c.2084delG c.(2083-2085)agfs p.R695fs FANCM_ENST00000542564.2_Frame_Shift_Del_p.R669fs NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 695 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TATAGATTAAGGGACAGTGAT 0.294 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 12 66 --- --- --- --- FRMD6 122786 broad.mit.edu 37 14 52178252 52178252 + Frame_Shift_Del DEL A A - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:52178252delA ENST00000395718.2 + 8 979 c.694delA c.(694-696)aafs p.K232fs FRMD6_ENST00000554167.1_Frame_Shift_Del_p.K163fs|FRMD6_ENST00000344768.5_Frame_Shift_Del_p.K240fs|FRMD6_ENST00000356218.4_Frame_Shift_Del_p.K232fs NM_001267046.1|NM_152330.3 NP_001253975.1|NP_689543.1 Q96NE9 FRMD6_HUMAN FERM domain containing 6 240 FERM. cytoskeleton|mitochondrion|plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_epithelial(31;0.0163)|Breast(41;0.089) CCTACAGGATAAAAGGGAAAT 0.328 8 53 --- --- --- --- ATP8B3 148229 broad.mit.edu 37 19 1796145 1796145 + Frame_Shift_Del DEL C C - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:1796145delC ENST00000539485.1 - 17 2106 c.1873delG c.(1873-1875)agfs p.E626fs ATP8B3_ENST00000310127.6_Frame_Shift_Del_p.E626fs|ATP8B3_ENST00000525591.1_Frame_Shift_Del_p.E579fs O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 626 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCCGTTCCTCCCCCAGCTCC 0.677 OREG0025127 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 63 --- --- --- --- MGC20647 91370 broad.mit.edu 37 22 30642712 30642712 + Frame_Shift_Del DEL A A - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr22:30642712delA ENST00000593843.1 + 2 528 c.528delA c.(526-528)ggfs p.G177fs LIF_ENST00000249075.3_5'UTR|LIF_ENST00000403987.3_5'UTR AGGGCCTTGGAGGAAACCTCA 0.567 2 4 --- --- --- --- FBLN1 2192 broad.mit.edu 37 22 45959084 45959085 + Frame_Shift_Del DEL CG CG - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr22:45959084_45959085delCG ENST00000402984.3 + 16 2207_2208 c.2104_2105delCG c.(2104-2106)cfs p.R702fs FBLN1_ENST00000442170.2_Intron|FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000262722.7_Frame_Shift_Del_p.R664fs P23142 FBLN1_HUMAN fibulin 1 682 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GGATCTCTCTCGCCACGGCACC 0.624 8 124 --- --- --- --- JUN 3725 broad.mit.edu 37 1 59247873 59247873 + Frame_Shift_Del DEL C C - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:59247873delC ENST00000371222.2 - 1 1912 c.870delG c.(868-870)cafs p.Q290fs NM_002228.3 NP_002219.1 P05412 JUN_HUMAN jun proto-oncogene 290 Leucine-zipper. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|kidney(2)|lung(5)|skin(1) 10 all_cancers(7;8.55e-07) Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570) GCTCCGAGTTCTGAGCTTTCA 0.542 A sarcoma OREG0013518 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 173 --- --- --- --- COL11A1 1301 broad.mit.edu 37 1 103355036 103355036 + Frame_Shift_Del DEL C C - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr1:103355036delC ENST00000358392.2 - 59 4792 c.4475delG c.(4474-4476)gafs p.G1492fs COL11A1_ENST00000512756.1_Frame_Shift_Del_p.G1364fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.G1441fs|COL11A1_ENST00000370096.3_Frame_Shift_Del_p.G1480fs NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1480 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCCTGGAGATCCTTGAGTTCC 0.458 19 98 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr4:147560457_147560458insGGC ENST00000281321.3 + 1 413_414 c.165_166insGGC c.(163-168)gggcgg>ggGGCgcgg p.55_56GR>GAR AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 55 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.762 6 11 --- --- --- --- NIPBL 25836 broad.mit.edu 37 5 37049317 37049317 + Frame_Shift_Del DEL T T - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr5:37049317delT ENST00000282516.8 + 40 7367 c.6868delT c.(6868-6870)ttfs p.F2291fs NIPBL_ENST00000448238.2_Frame_Shift_Del_p.F2291fs NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2291 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GCTTGAGGCATTTTTTCACAC 0.403 7 2137 --- --- --- --- DOCK8 81704 broad.mit.edu 37 9 405014 405015 + Frame_Shift_Ins INS - - T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr9:405014_405015insT ENST00000432829.2 + 27 3443_3444 c.3127_3128insT c.(3127-3129)tttfs p.F1043fs DOCK8_ENST00000382331.1_Frame_Shift_Ins_p.F413fs|DOCK8_ENST00000453981.1_Frame_Shift_Ins_p.F1111fs|DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.F1011fs|DOCK8_ENST00000382329.1_Frame_Shift_Ins_p.F578fs NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1111 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) CAATCTGAACCTTTTTTTTATG 0.396 12 66 --- --- --- --- IFNA7 3444 broad.mit.edu 37 9 21202041 21202041 + Frame_Shift_Del DEL C C - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr9:21202041delC ENST00000239347.3 - 1 163 c.124delG c.(124-126)cafs p.A42fs NM_021057.2 NP_066401.2 P01567 IFNA7_HUMAN interferon, alpha 7 42 blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6) 12 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CCCATTTGTGCCAGGAGTATC 0.512 49 223 --- --- --- --- SWAP70 23075 broad.mit.edu 37 11 9759806 9759806 + Frame_Shift_Del DEL G G - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr11:9759806delG ENST00000318950.6 + 8 1230 c.1127delG c.(1126-1128)ccfs p.R376fs SWAP70_ENST00000447399.2_Frame_Shift_Del_p.R318fs NM_015055.2 NP_055870.2 Q9UH65 SWP70_HUMAN SWAP switching B-cell complex 70kDa subunit 376 cytoplasm|lamellipodium|nucleus|plasma membrane calcium ion binding|DNA binding NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 11 all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649) GAAAAGAAACGCCTTCAGACT 0.478 16 76 --- --- --- --- FANCM 57697 broad.mit.edu 37 14 45639873 45639873 + Frame_Shift_Del DEL G G - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr14:45639873delG ENST00000267430.5 + 12 2169 c.2084delG c.(2083-2085)agfs p.R695fs FANCM_ENST00000542564.2_Frame_Shift_Del_p.R669fs NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 695 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 TATAGATTAAGGGACAGTGAT 0.294 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 12 66 --- --- --- --- FRMD6 122786 broad.mit.edu 37 14 52178252 52178252 + Frame_Shift_Del DEL A A - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr14:52178252delA ENST00000395718.2 + 8 979 c.694delA c.(694-696)aafs p.K232fs FRMD6_ENST00000356218.4_Frame_Shift_Del_p.K232fs|FRMD6_ENST00000554167.1_Frame_Shift_Del_p.K163fs|FRMD6_ENST00000344768.5_Frame_Shift_Del_p.K240fs NM_001267046.1|NM_152330.3 NP_001253975.1|NP_689543.1 Q96NE9 FRMD6_HUMAN FERM domain containing 6 240 FERM. cytoskeleton|mitochondrion|plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_epithelial(31;0.0163)|Breast(41;0.089) CCTACAGGATAAAAGGGAAAT 0.328 8 53 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32095553 32095553 + RNA DEL G G - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr16:32095553delG ENST00000566806.1 - 0 499 CTGGGGCCCCGAGGGAGATGT 0.642 2 4 --- --- --- --- ATP8B3 148229 broad.mit.edu 37 19 1796145 1796145 + Frame_Shift_Del DEL C C - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr19:1796145delC ENST00000539485.1 - 17 2106 c.1873delG c.(1873-1875)agfs p.E626fs ATP8B3_ENST00000525591.1_Frame_Shift_Del_p.E579fs|ATP8B3_ENST00000310127.6_Frame_Shift_Del_p.E626fs O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 626 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCCGTTCCTCCCCCAGCTCC 0.677 OREG0025127 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 63 --- --- --- --- LA16c-23H5.4 0 broad.mit.edu 37 22 16419352 16419352 + RNA DEL T T - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr22:16419352delT ENST00000444162.1 + 0 279 GAATCGACGATTTTTTTTTTG 0.398 3 4 --- --- --- --- ISX-AS1 101926957 broad.mit.edu 37 22 35411562 35411563 + RNA DEL AA AA - rs72115028 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr22:35411562_35411563delAA ENST00000448318.4 - 0 836 CCCAAGGTGGAAAAAAAAAAAA 0.510 2 4 --- --- --- --- FBLN1 2192 broad.mit.edu 37 22 45959084 45959085 + Frame_Shift_Del DEL CG CG - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx f9cc1d71-bece-4693-b953-3e73d1b6c11c 74800a92-e6e7-4db3-9f3b-da6036d63d4e g.chr22:45959084_45959085delCG ENST00000402984.3 + 16 2207_2208 c.2104_2105delCG c.(2104-2106)cfs p.R702fs FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000442170.2_Intron|FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000262722.7_Frame_Shift_Del_p.R664fs P23142 FBLN1_HUMAN fibulin 1 682 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GGATCTCTCTCGCCACGGCACC 0.624 8 124 --- --- --- ---