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 GABRA3 2556 broad.mit.edu 37 X 151336735 151336735 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chrX:151336735C>T ENST00000370314.4 - 10 1682 c.1444G>A c.(1444-1446)Gag>Aag p.E482K RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Missense_Mutation_p.E482K|GABRA3_ENST00000370311.1_Missense_Mutation_p.E482K NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 482 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATAGCTGACTCCCGGTTGACA 0.498000 35 13 0 0 0.003271 0 0 LAPTM5 7805 broad.mit.edu 37 1 31210496 31210496 + Missense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:31210496C>A ENST00000294507.3 - 6 635 c.561G>T c.(559-561)atG>atT p.M187I NM_006762.2 NP_006753.1 Q13571 LAPM5_HUMAN lysosomal protein transmembrane 5 187 transport integral to plasma membrane|lysosomal membrane p.M187I(1) large_intestine(2)|lung(7)|skin(1) 10 Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192) STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649) AGATGATCATCATCTTGATGA 0.522000 23 45 7.07758e-08 7.8931e-08 0.004656 1 0 KRT25 147183 broad.mit.edu 37 17 38910653 38910653 + Missense_Mutation SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:38910653T>G ENST00000312150.4 - 2 557 c.497A>C c.(496-498)gAt>gCt p.D166A NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 166 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) TCTGAAATCATCAGCTGTAAG 0.383000 29 67 0 0 0.005443 0 0 ZNF134 7693 broad.mit.edu 37 19 58132578 58132578 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:58132578G>T ENST00000396161.5 + 3 1401 c.1091G>T c.(1090-1092)aGg>aTg p.R364M NM_003435.3 NP_003426.3 P52741 ZN134_HUMAN zinc finger protein 134 364 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1) 11 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) GCACACCAGAGGGTTCACACT 0.438000 39 36 2.51541e-25 3.11268e-25 0.004878 1 0 DNAH8 1769 broad.mit.edu 37 6 38885712 38885712 + Silent SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr6:38885712A>G ENST00000359357.3 + 68 9923 c.9669A>G c.(9667-9669)gcA>gcG p.A3223A DNAH8_ENST00000449981.2_Silent_p.A3440A|DNAH8_ENST00000441566.1_Silent_p.A3187A dynein, axonemal, heavy chain 8 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 TGATGAGTGCAACAGGATTCC 0.333000 3 43 0 0 0.009096 0 0 CSPG4 1464 broad.mit.edu 37 15 75983101 75983101 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr15:75983101G>A ENST00000308508.5 - 3 397 c.305C>T c.(304-306)aCg>aTg p.T102M NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 102 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity p.T102M(1) breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 ACTCAGCAGCGTCTCTGCTGG 0.582000 29 66 0 0 0.003271 0 0 OS9 10956 broad.mit.edu 37 12 58088661 58088661 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:58088661G>A ENST00000315970.7 + 2 332 c.291G>A c.(289-291)ggG>ggA p.G97G OS9_ENST00000552285.1_Silent_p.G97G|OS9_ENST00000439210.2_Intron|OS9_ENST00000413095.2_Silent_p.G97G|OS9_ENST00000435406.2_Silent_p.G97G|OS9_ENST00000389142.5_Silent_p.G97G|OS9_ENST00000551035.1_Silent_p.G97G|OS9_ENST00000389146.6_Silent_p.G97G|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000257966.8_Silent_p.G97G NM_001017958.2|NM_006812.3 NP_001017958.1|NP_006803.1 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum lectin 97 ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 21 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) AAGGGCCTGGGATCCCTGAGT 0.522000 20 41 0 0 0.008871 0 0 HNF1A 6927 broad.mit.edu 37 12 121434487 121434487 + Silent SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:121434487T>A ENST00000257555.6 + 6 1477 c.1251T>A c.(1249-1251)ggT>ggA p.G417G HNF1A_ENST00000400024.2_Silent_p.G417G|HNF1A_ENST00000543427.1_Silent_p.G300G|HNF1A_ENST00000402929.1_Silent_p.G417G|HNF1A_ENST00000541395.1_Silent_p.G417G|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Silent_p.G417G P20823 HNF1A_HUMAN HNF1 homeobox A 417 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TCGGGCCTGGTGAGCCTGCCT 0.632000 Hepatic Adenoma, Familial Clustering of 19 32 0 0 0.014323 0 0 CR1 1378 broad.mit.edu 37 1 207760880 207760880 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:207760880G>A ENST00000367049.4 + 34 5680 c.5680G>A c.(5680-5682)Gtc>Atc p.V1894I CR1_ENST00000400960.2_Missense_Mutation_p.V1444I|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Missense_Mutation_p.V1444I|CR1_ENST00000367051.1_Missense_Mutation_p.V1444I|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.V1444I NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1444 Sushi 29. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity 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 AGAAAACTTGGTCTGGTCAAG 0.453000 45 81 0 0 0.014410 0 0 LINC00521 256369 broad.mit.edu 37 14 94464411 94464411 + RNA SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr14:94464411G>A ENST00000444118.1 + 0 91 NR_024182.1 GTCCCTTTTCGGTCTGTCTTC 0.572000 6 18 0 0 0.001984 0 0 SLIT2 9353 broad.mit.edu 37 4 20619185 20619185 + Missense_Mutation SNP G G T rs111791287 TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr4:20619185G>T ENST00000504154.1 + 36 4512 c.4260G>T c.(4258-4260)aaG>aaT p.K1420N SLIT2_ENST00000503823.1_Missense_Mutation_p.K1412N|SLIT2_ENST00000503837.1_Missense_Mutation_p.K1416N|SLIT2_ENST00000273739.5_Missense_Mutation_p.K1433N NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1420 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 AGGCGATCAAGTGCAAGCATG 0.557000 13 15 5.50884e-06 5.94779e-06 0.013537 1 0 MC5R 4161 broad.mit.edu 37 18 13826439 13826439 + Silent SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr18:13826439C>A ENST00000324750.3 + 1 897 c.675C>A c.(673-675)gcC>gcA p.A225A NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 225 ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 TGCCCGGGGCCAGCTCTGCGC 0.622000 87 179 3.56499e-28 4.43171e-28 0.014410 1 0 BAGE2 85319 broad.mit.edu 37 21 11058238 11058238 + RNA SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr21:11058238G>A ENST00000470054.1 - 0 409 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTCGGCTCCTGCAGCACAAGG 0.433000 14 83 0 0 0.001855 0 0 SYDE1 85360 broad.mit.edu 37 19 15222125 15222125 + Splice_Site SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:15222125T>C ENST00000600252.1 + 2 1905 c.261_splice c.e2-1 p.V88_splice SYDE1_ENST00000342784.2_Splice_Site_p.V431_splice|SYDE1_ENST00000600440.1_Splice_Site_p.V364_splice Q6ZW31 SYDE1_HUMAN synapse defective 1, Rho GTPase, homolog 1 (C. elegans) 431 Pro-rich. activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1) 17 CACCCCCAGGTAGTGGGACTG 0.587000 33 22 0 0 0.003755 0 0 SLAMF6 114836 broad.mit.edu 37 1 160466073 160466073 + Missense_Mutation SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:160466073T>G ENST00000368059.3 - 2 229 c.160A>C c.(160-162)Act>Cct p.T54P SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368057.3_Missense_Mutation_p.T54P NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4 NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1 Q96DU3 SLAF6_HUMAN SLAM family member 6 54 integral to membrane|plasma membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) AAAAGCCAAGTGATGAAGTTG 0.463000 48 135 0 0 0.014410 0 0 WDR17 116966 broad.mit.edu 37 4 177077229 177077229 + Splice_Site SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr4:177077229G>T ENST00000393643.2 + 18 2712 c.e18-1 WDR17_ENST00000280190.4_Splice_Site|WDR17_ENST00000507824.2_Splice_Site|WDR17_ENST00000508596.1_Splice_Site NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 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;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TTCTATTGTAGTGGGACAAAG 0.368000 24 69 2.27525e-19 2.8027e-19 0.003954 1 0 FAM184A 79632 broad.mit.edu 37 6 119345399 119345399 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr6:119345399C>G ENST00000338891.7 - 2 1182 c.739G>C c.(739-741)Gat>Cat p.D247H FAM184A_ENST00000521531.1_Missense_Mutation_p.D247H|FAM184A_ENST00000522284.1_Missense_Mutation_p.D127H|FAM184A_ENST00000368475.4_Missense_Mutation_p.D127H|FAM184A_ENST00000352896.5_Missense_Mutation_p.D127H|RP11-351A11.1_ENST00000518570.1_RNA NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 247 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 CCTTCATAATCCTCAATTAGT 0.423000 16 39 0 0 0.003163 0 0 FKBP11 51303 broad.mit.edu 37 12 49319149 49319149 + Silent SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:49319149C>A ENST00000550765.1 - 1 461 c.63G>T c.(61-63)gcG>gcT p.A21A FKBP11_ENST00000453172.2_Silent_p.A21A|AC073610.5_ENST00000537495.1_Intron|ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Intron|FKBP11_ENST00000552878.1_Silent_p.A21A NM_016594.2 NP_057678.1 Q9NYL4 FKB11_HUMAN FK506 binding protein 11, 19 kDa 21 protein folding integral to membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity kidney(1)|large_intestine(3)|lung(1) 5 CCCGGCACACCGCCGCACTGa 0.697000 3 25 0.00909568 0.0094805 0.009096 1 0 PTPRB 5787 broad.mit.edu 37 12 71002999 71002999 + Missense_Mutation SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:71002999T>G ENST00000334414.6 - 4 873 c.829A>C c.(829-831)Agc>Cgc p.S277R PTPRB_ENST00000550857.1_Missense_Mutation_p.S59R|PTPRB_ENST00000550358.1_Missense_Mutation_p.S277R|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Missense_Mutation_p.S59R|PTPRB_ENST00000451516.2_Missense_Mutation_p.S59R|PTPRB_ENST00000261266.5_Missense_Mutation_p.S59R|PTPRB_ENST00000551525.1_Missense_Mutation_p.S276R NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 59 Fibronectin type-III 3. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity 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) GTGTCACTGCTATAGATGAGG 0.498000 3 67 0 0 0.004672 0 0 OR1J2 26740 broad.mit.edu 37 9 125273891 125273891 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr9:125273891G>A ENST00000335302.5 + 1 811 c.811G>A c.(811-813)Gat>Aat p.D271N NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 TATTGACAAGGATGTCATTGT 0.473000 62 126 0 0 0.014410 0 0 SPECC1 92521 broad.mit.edu 37 17 20108048 20108048 + Missense_Mutation SNP T T C rs149577639 by1000genomes TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:20108048T>C ENST00000395530.2 + 2 651 c.443T>C c.(442-444)cTt>cCt p.L148P AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395525.3_Missense_Mutation_p.L148P|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.L148P|SPECC1_ENST00000261503.5_Missense_Mutation_p.L229P|SPECC1_ENST00000395529.3_Missense_Mutation_p.L229P|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395527.4_Missense_Mutation_p.L229P NM_001033555.2 NP_001028727.1 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 229 nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) ATAAGAGCTCTTGAGGAGAAG 0.478000 33 153 0 0 0.012213 0 0 ZNF763 284390 broad.mit.edu 37 19 12088200 12088200 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:12088200G>T ENST00000343949.5 + 3 309 c.154G>T c.(154-156)Gac>Tac p.D52Y ZNF763_ENST00000592625.1_Intron|ZNF763_ENST00000358987.3_Missense_Mutation_p.D49Y|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Missense_Mutation_p.D69Y|ZNF763_ENST00000538752.1_Missense_Mutation_p.D69Y NM_001012753.1 NP_001012771.1 zinc finger protein 763 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9) 15 AAAGTGGAAAGACCAGAACAT 0.333000 18 32 2.35188e-11 2.68928e-11 0.006122 1 0 PRKCH 5583 broad.mit.edu 37 14 61917604 61917604 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr14:61917604C>T ENST00000332981.5 + 6 1132 c.747C>T c.(745-747)agC>agT p.S249S PRKCH_ENST00000555082.1_Silent_p.S88S NM_006255.3 NP_006246.2 P24723 KPCL_HUMAN protein kinase C, eta 249 intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) ACAAGTTCAGCATCCACAACT 0.438000 23 38 0 0 0.003330 0 0 PDE10A 10846 broad.mit.edu 37 6 165862443 165862443 + Silent SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr6:165862443T>A ENST00000366882.1 - 6 493 c.339A>T c.(337-339)gcA>gcT p.A113A PDE10A_ENST00000354448.4_Silent_p.A113A|PDE10A_ENST00000539869.2_Silent_p.A123A Q9Y233 PDE10_HUMAN phosphodiesterase 10A 113 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) GGAAATACAGTGCAAATCCAT 0.368000 23 38 0 0 0.003330 0 0 ZNF571 51276 broad.mit.edu 37 19 38057174 38057174 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:38057174C>T ENST00000328550.2 - 4 255 c.156G>A c.(154-156)gtG>gtA p.V52V ZNF571_ENST00000358744.3_Silent_p.V52V|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000451802.2_Silent_p.V52V|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000589802.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000593133.1_Silent_p.V52V Q7Z3V5 ZN571_HUMAN zinc finger protein 571 52 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 25 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACTTTTTGGTCACACAACTGG 0.338000 16 51 0 0 0.004007 0 0 ITGA8 8516 broad.mit.edu 37 10 15726024 15726024 + Nonsense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr10:15726024C>A ENST00000378076.3 - 4 900 c.547G>T c.(547-549)Gag>Tag p.E183* NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 183 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 GGAGAGAACTCGGCATAGGCG 0.458000 16 42 3.45872e-05 3.70479e-05 0.004007 1 0 CHRM2 1129 broad.mit.edu 37 7 136700385 136700385 + Missense_Mutation SNP A A G rs142006633 byFrequency TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr7:136700385A>G ENST00000445907.2 + 3 1301 c.773A>G c.(772-774)aAc>aGc p.N258S CHRM2_ENST00000401861.1_Missense_Mutation_p.N258S|CHRM2_ENST00000397608.3_Missense_Mutation_p.N258S|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.N258S|CHRM2_ENST00000402486.3_Missense_Mutation_p.N258S|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.N258S|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 258 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CTGGAGCACAACAAAATCCAG 0.512000 10 19 0 0 0.010729 0 0 RNF44 22838 broad.mit.edu 37 5 175956543 175956543 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:175956543G>A ENST00000274811.4 - 9 1641 c.1117C>T c.(1117-1119)Cat>Tat p.H373Y RNF44_ENST00000537487.1_Missense_Mutation_p.H292Y NM_014901.4 NP_055716.1 Q7L0R7 RNF44_HUMAN ring finger protein 44 373 zinc ion binding endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCGACTGATGGCTGTCCGGG 0.647000 22 25 0 0 0.002780 0 0 TOX4 9878 broad.mit.edu 37 14 21955828 21955828 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr14:21955828G>A ENST00000405508.1 + 4 570 c.294G>A c.(292-294)ggG>ggA p.G98G TOX4_ENST00000262709.3_Silent_p.G98G|TOX4_ENST00000494242.1_3'UTR|TOX4_ENST00000448790.2_Silent_p.G75G O94842 TOX4_HUMAN TOX high mobility group box family member 4 98 chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) AGGGCGGGGGGCTCCTGAGTG 0.557000 35 55 0 0 0.013726 0 0 RNF17 56163 broad.mit.edu 37 13 25448319 25448319 + Missense_Mutation SNP A A T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr13:25448319A>T ENST00000255324.5 + 33 4567 c.4515A>T c.(4513-4515)gaA>gaT p.E1505D RNF17_ENST00000339524.3_Missense_Mutation_p.E515D|RNF17_ENST00000381921.1_Missense_Mutation_p.E1463D NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1505 Tudor 4. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CCATTAAAGAATTTAATCCTT 0.328000 31 36 0 0 0.010818 0 0 SLITRK5 26050 broad.mit.edu 37 13 88329860 88329860 + Silent SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr13:88329860C>A ENST00000325089.6 + 2 2436 c.2217C>A c.(2215-2217)ccC>ccA p.P739P SLITRK5_ENST00000400028.3_Silent_p.P498P NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 739 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) CCGCGCTGCCCAAGGTGAAGA 0.667000 37 101 1.90571e-15 2.26512e-15 0.004289 1 0 ATP2B3 492 broad.mit.edu 37 X 152825277 152825277 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chrX:152825277G>A ENST00000370186.1 + 16 3000 c.2674G>A c.(2674-2676)Gag>Aag p.E892K ATP2B3_ENST00000349466.2_Missense_Mutation_p.E906K|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E892K|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E892K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E906K|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E906K Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 906 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCCACCCACAGAGTCGCTGCT 0.597000 35 11 0 0 0.004878 0 0 MYCBP2 23077 broad.mit.edu 37 13 77632376 77632376 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr13:77632376G>A ENST00000407578.2 - 78 13572 c.13306C>T c.(13306-13308)Ctc>Ttc p.L4436F MYCBP2_ENST00000357337.6_Missense_Mutation_p.L4398F|MYCBP2_ENST00000544440.2_Missense_Mutation_p.L4398F NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 4398 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GCTGCCGAGAGCGCTTCGGTG 0.458000 49 105 0 0 0.014410 0 0 ZNF678 339500 broad.mit.edu 37 1 227842404 227842404 + Silent SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:227842404A>G ENST00000343776.4 + 4 798 c.453A>G c.(451-453)aaA>aaG p.K151K ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Silent_p.K206K F5GXA7 F5GXA7_HUMAN zinc finger protein 678 206 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) CTGGAGAGAAACCCTACAAAT 0.353000 26 78 0 0 0.004656 0 0 TMEM87A 25963 broad.mit.edu 37 15 42560198 42560198 + Translation_Start_Site SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr15:42560198T>C ENST00000568432.1 - 0 283 TMEM87A_ENST00000448392.1_Missense_Mutation_p.I19V|TMEM87A_ENST00000307216.6_Missense_Mutation_p.I80V|TMEM87A_ENST00000389834.4_Missense_Mutation_p.I80V Q8NBN3 TM87A_HUMAN transmembrane protein 87A integral to membrane breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;1.03e-06) TACCAGGTTATATTCAAAGAC 0.323000 25 46 0 0 0.004656 0 0 EARS2 124454 broad.mit.edu 37 16 23563530 23563530 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr16:23563530C>G ENST00000449606.1 - 2 266 c.235G>C c.(235-237)Gat>Cat p.D79H EARS2_ENST00000564501.1_Missense_Mutation_p.D79H|EARS2_ENST00000563232.1_Missense_Mutation_p.D79H|EARS2_ENST00000563459.1_Missense_Mutation_p.D79H NM_001083614.1 NP_001077083.1 Q5JPH6 SYEM_HUMAN glutamyl-tRNA synthetase 2, mitochondrial 79 glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|glutamate-tRNA ligase activity|RNA binding central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) CGAGTCTGATCTGTGTCCTCT 0.547000 35 71 0 0 0.004289 0 0 LZTS3 9762 broad.mit.edu 37 20 3147717 3147717 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr20:3147717C>T ENST00000329152.3 - 1 1490 c.93G>A c.(91-93)ccG>ccA p.P31P LZTS3_ENST00000360342.3_Silent_p.P31P|LZTS3_ENST00000337576.5_Silent_p.P31P NM_014731.2 NP_055546.1 GGCGGGGGTCCGGGGGTCCAA 0.706000 9 10 0 0 0.008291 0 0 NARS 4677 broad.mit.edu 37 18 55283091 55283091 + Missense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr18:55283091C>A ENST00000256854.5 - 3 665 c.210G>T c.(208-210)tgG>tgT p.W70C NARS_ENST00000423481.2_5'UTR NM_004539.3 NP_004530.1 O43776 SYNC_HUMAN asparaginyl-tRNA synthetase 70 asparaginyl-tRNA aminoacylation cytosol|soluble fraction asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1) 20 Colorectal(73;0.227) L-Asparagine(DB00174) GTTCCCTATGCCACATCTTTT 0.388000 22 55 1.87028e-06 2.04374e-06 0.012319 1 0 MAZ 4150 broad.mit.edu 37 16 29820025 29820025 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr16:29820025C>G ENST00000219782.6 + 4 1348 c.1242C>G c.(1240-1242)agC>agG p.S414R MAZ_ENST00000568544.1_Missense_Mutation_p.S15R|MAZ_ENST00000562337.1_Missense_Mutation_p.S109R|MAZ_ENST00000568282.1_Missense_Mutation_p.S15R|MAZ_ENST00000563402.1_Intron|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000322945.6_Missense_Mutation_p.S414R|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000569978.1_Missense_Mutation_p.S15R|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000545521.1_Missense_Mutation_p.S391R NM_001042539.1 NP_001036004.1 P56270 MAZ_HUMAN MYC-associated zinc finger protein (purine-binding transcription factor) 414 regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 AGGTGCACAGCCAGGGTCCTC 0.612000 12 18 0 0 0.001855 0 0 CTAGE5 4253 broad.mit.edu 37 14 39764138 39764138 + Missense_Mutation SNP A A G rs150627486 byFrequency TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr14:39764138A>G ENST00000553728.1 + 12 2395 c.2182A>G c.(2182-2184)Acc>Gcc p.T728A CTAGE5_ENST00000553352.1_Missense_Mutation_p.T164A|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.T164A|CTAGE5_ENST00000348007.3_Missense_Mutation_p.T193A|CTAGE5_ENST00000556148.1_Missense_Mutation_p.T118A|CTAGE5_ENST00000396158.2_Missense_Mutation_p.T198A|CTAGE5_ENST00000557038.1_Missense_Mutation_p.T113A|CTAGE5_ENST00000341502.5_Missense_Mutation_p.T193A|CTAGE5_ENST00000396165.4_Missense_Mutation_p.T164A|CTAGE5_ENST00000280083.3_Missense_Mutation_p.T193A|CTAGE5_ENST00000341749.3_Missense_Mutation_p.T181A GGCCAAAATGACCTTCAAGAT 0.313000 4 88 0 0 0.000602 0 0 SYVN1 84447 broad.mit.edu 37 11 64897499 64897499 + Missense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr11:64897499C>A ENST00000526060.1 - 13 1572 c.1380G>T c.(1378-1380)atG>atT p.M460I SYVN1_ENST00000377190.3_Missense_Mutation_p.M461I|SYVN1_ENST00000307289.6_Missense_Mutation_p.M409I|SYVN1_ENST00000294256.8_Missense_Mutation_p.M460I Q86TM6 SYVN1_HUMAN synovial apoptosis inhibitor 1, synoviolin 461 Pro-rich. ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 GGGGCATACCCATCCAGGGAG 0.647000 7 14 5.18039e-06 5.61554e-06 0.003080 1 0 MYO1A 4640 broad.mit.edu 37 12 57431381 57431381 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:57431381C>G ENST00000442789.2 - 20 2293 c.2006G>C c.(2005-2007)gGg>gCg p.G669A MYO1A_ENST00000300119.3_Missense_Mutation_p.G669A|MYO1A_ENST00000544473.1_Missense_Mutation_p.G507A NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 669 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 GGCCAGCTCCCCCGAGGACAT 0.512000 107 229 0 0 0.014410 0 0 NIPBL 25836 broad.mit.edu 37 5 37048756 37048756 + Missense_Mutation SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:37048756A>G ENST00000282516.8 + 39 7241 c.6742A>G c.(6742-6744)Atg>Gtg p.M2248V NIPBL_ENST00000448238.2_Missense_Mutation_p.M2248V NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2248 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) AGATACACGTATGCAGCAGGC 0.269000 9 24 0 0 0.008291 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125686264 125686264 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chrX:125686264G>T ENST00000371126.1 - 1 570 c.328C>A c.(328-330)Cag>Aag p.Q110K NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 110 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 CACACCACCTGCCTGGAGTTC 0.637000 36 17 4.65686e-17 5.63397e-17 0.003755 1 0 DRD5 1816 broad.mit.edu 37 4 9784899 9784899 + Missense_Mutation SNP A A C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr4:9784899A>C ENST00000304374.2 + 1 1642 c.1246A>C c.(1246-1248)Aac>Cac p.N416H NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 416 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CATGATGCCCAACGCCGTTAC 0.567000 19 48 0 0 0.008871 0 0 ZFAND2A 90637 broad.mit.edu 37 7 1197827 1197827 + Missense_Mutation SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr7:1197827T>G ENST00000401903.1 - 2 281 c.22A>C c.(22-24)Aag>Cag p.K8Q ZFAND2A_ENST00000316495.3_Missense_Mutation_p.K8Q Q8N6M9 ZFN2A_HUMAN zinc finger, AN1-type domain 2A 8 cytoplasm|nucleus zinc ion binding lung(2)|ovary(1) 3 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15) GAACAATGCTTCCCCAAATCA 0.408000 48 230 0 0 0.014410 0 0 SLC30A1 7779 broad.mit.edu 37 1 211751730 211751730 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:211751730G>A ENST00000367001.4 - 1 354 c.225C>T c.(223-225)atC>atT p.I75I NM_021194.2 NP_067017.2 Q9Y6M5 ZNT1_HUMAN solute carrier family 30 (zinc transporter), member 1 75 cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import integral to membrane|T-tubule calcium channel inhibitor activity|zinc ion transmembrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1) 11 OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978) CCTCGGCTCGGATCCAGCCGA 0.662000 16 20 0 0 0.004990 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33111164 33111164 + Translation_Start_Site SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr13:33111164T>A ENST00000446957.2 - 1 0 c.1A>T c.(1-3)Atg>Ttg p.M1L N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000399396.3_Splice_Site_p.M1_splice|N4BP2L2_ENST00000267068.3_Splice_Site_p.M1_splice Q92802 N42L2_HUMAN NEDD4 binding protein 2-like 2 1 kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) CCATAAGACATCTGAGAAATA 0.289000 10 14 0 0 0.006214 0 0 ARMC4 55130 broad.mit.edu 37 10 28196653 28196653 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr10:28196653G>A ENST00000305242.5 - 17 2641 c.2549C>T c.(2548-2550)cCt>cTt p.P850L ARMC4_ENST00000537576.1_Missense_Mutation_p.P542L|ARMC4_ENST00000545014.1_Missense_Mutation_p.P375L NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 850 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GTCTGGGTGAGGATTTTTCAG 0.443000 18 40 0 0 0.007413 0 0 NBEA 26960 broad.mit.edu 37 13 35619137 35619137 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr13:35619137G>A ENST00000540320.1 + 3 1114 c.580G>A c.(580-582)Gag>Aag p.E194K NBEA_ENST00000379939.2_Missense_Mutation_p.E194K|NBEA_ENST00000310336.4_Missense_Mutation_p.E194K|NBEA_ENST00000400445.3_Missense_Mutation_p.E194K Q8NFP9 NBEA_HUMAN neurobeachin 194 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CACTGTCAAGGAGTTGAAGCT 0.418000 9 14 0 0 0.006214 0 0 ING5 84289 broad.mit.edu 37 2 242650884 242650884 + Silent SNP C C T rs142180451 byFrequency TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:242650884C>T ENST00000313552.6 + 4 395 c.369C>T c.(367-369)tcC>tcT p.S123S ING5_ENST00000406941.1_Silent_p.S123S|ING5_ENST00000482774.1_3'UTR NM_032329.4 NP_115705.2 Q8WYH8 ING5_HUMAN inhibitor of growth family, member 5 123 DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding large_intestine(1)|lung(1)|skin(1) 3 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) TTGAAAGCTCCGGAGGGCGAG 0.393000 44 94 0 0 0.007835 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21467564 21467564 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:21467564C>G ENST00000307378.6 - 5 974 c.254G>C c.(253-255)aGa>aCa p.R85T SLCO1A2_ENST00000452078.1_Missense_Mutation_p.R85T|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.R83T|SLCO1A2_ENST00000473830.1_Intron|SLCO1A2_ENST00000458504.1_Intron NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 85 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 CATTATAGGTCTATGCAGTTT 0.328000 19 41 0 0 0.008871 0 0 SUPV3L1 6832 broad.mit.edu 37 10 70962246 70962246 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr10:70962246C>G ENST00000359655.4 + 12 1630 c.1570C>G c.(1570-1572)Ctc>Gtc p.L524V NM_003171.3 NP_003162.2 Q8IYB8 SUV3_HUMAN suppressor of var1, 3-like 1 (S. cerevisiae) 524 DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TGCCTACCATCTCCCTGATGC 0.373000 23 53 0 0 0.006320 0 0 SEC24D 9871 broad.mit.edu 37 4 119649746 119649746 + Silent SNP A A T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr4:119649746A>T ENST00000379735.5 - 22 3202 c.2931T>A c.(2929-2931)atT>atA p.I977I SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000429811.2_3'UTR|SEC24D_ENST00000511481.1_Silent_p.I607I|SEC24D_ENST00000280551.6_Silent_p.I976I NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 976 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 TTTGTTGGATAATACCCATTA 0.308000 7 25 0 0 0.004482 0 0 MCOLN3 55283 broad.mit.edu 37 1 85491754 85491754 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:85491754G>T ENST00000370589.2 - 9 1015 c.963C>A c.(961-963)ttC>ttA p.F321L MCOLN3_ENST00000341115.4_Missense_Mutation_p.F265L|MCOLN3_ENST00000370587.1_3'UTR|WDR63_ENST00000370596.1_Intron NM_018298.10 NP_060768.8 Q8TDD5 MCLN3_HUMAN mucolipin 3 321 integral to membrane ion channel activity endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1) 34 all cancers(265;0.00957)|Epithelial(280;0.0254) AATGGAGGAGGAAAAAATTGA 0.363000 10 16 2.80697e-09 3.15639e-09 0.010729 1 0 GPC4 2239 broad.mit.edu 37 X 132438794 132438794 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chrX:132438794G>A ENST00000370828.3 - 7 1775 c.1251C>T c.(1249-1251)aaC>aaT p.N417N GPC4_ENST00000535467.1_Silent_p.N347N NM_001448.2 NP_001439.2 O75487 GPC4_HUMAN glypican 4 417 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) CCTCATTGCCGTTTCCTGCAG 0.468000 74 35 0 0 0.014410 0 0 PLCL2 23228 broad.mit.edu 37 3 17052859 17052859 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr3:17052859G>A ENST00000418129.2 + 2 2108 c.1643G>A c.(1642-1644)aGg>aAg p.R548K PLCL2_ENST00000396755.2_Missense_Mutation_p.R548K|PLCL2_ENST00000432376.1_Missense_Mutation_p.R548K NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 674 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 TTTCTTGCTAGGGTTTTTCCC 0.398000 16 23 0 0 0.006122 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45479008 45479008 + Missense_Mutation SNP A A T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr21:45479008A>T ENST00000291574.4 + 6 878 c.703A>T c.(703-705)Atg>Ttg p.M235L TRAPPC10_ENST00000380221.3_Missense_Mutation_p.M235L NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 235 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 TGTTTTCGAGATGCTGCAGCA 0.468000 9 28 0 0 0.008291 0 0 GOLGA2P5 55592 broad.mit.edu 37 12 100559710 100559710 + RNA SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:100559710T>G ENST00000397112.4 - 0 599 NR_036632.1 large_intestine(1)|lung(3) 4 CAGAGGCTGGTGCCCGCCTTC 0.602000 5 15 0 0 0.001984 0 0 RASD1 51655 broad.mit.edu 37 17 17399294 17399294 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:17399294G>T ENST00000225688.3 - 1 413 c.202C>A c.(202-204)Cgc>Agc p.R68S RASD1_ENST00000579152.1_Missense_Mutation_p.R68S NM_001199989.1|NM_016084.4 NP_001186918.1|NP_057168.1 Q9Y272 RASD1_HUMAN RAS, dexamethasone-induced 1 68 G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction nucleus|perinuclear region of cytoplasm|plasma membrane GTP binding|GTPase activity endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 4 ACCTCGCCGCGGATGGAGTAG 0.672000 15 72 3.41278e-10 3.86972e-10 0.004990 1 0 ACSM3 6296 broad.mit.edu 37 16 20797459 20797459 + Silent SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr16:20797459T>G ENST00000289416.5 + 9 1678 c.1203T>G c.(1201-1203)ccT>ccG p.P401P ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Silent_p.P393P|ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000440284.2_Silent_p.P401P NM_005622.3 NP_005613.2 Q53FZ2 ACSM3_HUMAN acyl-CoA synthetase medium-chain family member 3 401 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 21 TGGGAAAACCTTCTCCTGCTT 0.388000 15 23 0 0 0.008871 0 0 UBE4A 9354 broad.mit.edu 37 11 118267058 118267058 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr11:118267058C>T ENST00000252108.3 + 20 3235 c.3104C>T c.(3103-3105)cCc>cTc p.P1035L UBE4A_ENST00000431736.2_Missense_Mutation_p.P1042L|UBE4A_ENST00000545354.1_Missense_Mutation_p.P507L NM_001204077.1|NM_004788.3 NP_001191006.1|NP_004779.2 Q14139 UBE4A_HUMAN ubiquitination factor E4A 1035 U-box. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) AACCGTAGTCCCCTCACCATG 0.418000 23 42 0 0 0.003954 0 0 PHF21B 112885 broad.mit.edu 37 22 45281799 45281799 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr22:45281799C>T ENST00000313237.5 - 11 1367 c.1217G>A c.(1216-1218)gGt>gAt p.G406D PHF21B_ENST00000403565.1_Missense_Mutation_p.G202D|PHF21B_ENST00000404079.2_Missense_Mutation_p.G352D|PHF21B_ENST00000396103.3_Missense_Mutation_p.G364D NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 406 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) CCAGGGCACACCCTCGTCTTT 0.597000 57 84 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179457367 179457367 + Missense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:179457367C>A ENST00000589042.1 - 301 59589 c.59365G>T c.(59365-59367)Gat>Tat p.D19789Y TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D18148Y|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10724Y|TTN_ENST00000342992.6_Missense_Mutation_p.D17221Y|TTN_ENST00000342175.6_Missense_Mutation_p.D10916Y|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D10849Y|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18148 Fibronectin type-III 43. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGTTGGCATCAAGAATCAAC 0.363000 35 51 7.65355e-07 8.46577e-07 0.012213 1 0 RIN2 54453 broad.mit.edu 37 20 19981537 19981537 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr20:19981537G>T ENST00000255006.6 + 12 2941 c.2792G>T c.(2791-2793)gGc>gTc p.G931V RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.G449V NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 882 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 GATCCTTATGGCATCATTTTC 0.532000 22 63 5.45024e-15 6.44985e-15 0.003330 1 0 NRIP1 8204 broad.mit.edu 37 21 16339770 16339770 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr21:16339770T>A ENST00000400202.1 - 3 1456 c.744A>T c.(742-744)gaA>gaT p.E248D NRIP1_ENST00000318948.4_Missense_Mutation_p.E248D|NRIP1_ENST00000400199.1_Missense_Mutation_p.E248D P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 248 Repression domain 1. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) TAGCCCTTTTTTCCACCATGC 0.473000 19 47 0 0 0.012319 0 0 ASB4 51666 broad.mit.edu 37 7 95157465 95157465 + Silent SNP C C A rs146416403 by1000genomes TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr7:95157465C>A ENST00000325885.5 + 3 899 c.828C>A c.(826-828)gcC>gcA p.A276A ASB4_ENST00000428113.1_Silent_p.A276A NM_016116.2 NP_057200.1 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box containing 4 276 intracellular signal transduction central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) AAGCTGGCGCCGAAGCCAATC 0.577000 OREG0018172 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 35 8.10497e-08 9.00183e-08 0.010504 1 0 ZNF71 58491 broad.mit.edu 37 19 57133864 57133864 + Silent SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:57133864G>T ENST00000328070.6 + 3 1443 c.1209G>T c.(1207-1209)gtG>gtT p.V403V NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 403 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) ACCAGATCGTGCACACCGGGG 0.647000 15 47 8.60227e-14 1.00483e-13 0.004007 1 0 PIK3CA 5290 broad.mit.edu 37 3 178916946 178916946 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr3:178916946G>C ENST00000263967.3 + 2 490 c.333G>C c.(331-333)aaG>aaC p.K111N NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 111 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.K111N(12)|p.K111_L113delKIL(2)|p.K111_I112>N(1)|p.K111del(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GTGAAGAAAAGATCCTCAATC 0.328000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 6 42 0 0 0.003080 0 0 C15orf39 56905 broad.mit.edu 37 15 75498857 75498857 + Silent SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr15:75498857T>C ENST00000360639.2 + 2 788 c.468T>C c.(466-468)gaT>gaC p.D156D C15orf39_ENST00000567617.1_Silent_p.D156D|C15orf39_ENST00000394987.4_Silent_p.D156D Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 156 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 GGCCACTGGATGTTGACTGGA 0.622000 37 66 0 0 0.007835 0 0 BRD2 6046 broad.mit.edu 37 6 32947816 32947816 + Nonsense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr6:32947816G>T ENST00000395289.2 + 12 3759 c.2158G>T c.(2158-2160)Gag>Tag p.E720* BRD2_ENST00000374825.4_Nonsense_Mutation_p.E685*|BRD2_ENST00000449085.2_Nonsense_Mutation_p.E638*|BRD2_ENST00000374831.4_Nonsense_Mutation_p.E685*|BRD2_ENST00000395287.1_Nonsense_Mutation_p.E720*|BRD2_ENST00000443797.2_Nonsense_Mutation_p.E565* P25440 BRD2_HUMAN bromodomain containing 2 685 ET. spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 AGAAGAGATTGAGATTGATTT 0.483000 4 60 1.23904e-05 1.33246e-05 0.000602 1 0 RFC4 5984 broad.mit.edu 37 3 186518927 186518927 + Missense_Mutation SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr3:186518927T>G ENST00000392481.2 - 3 470 c.189A>C c.(187-189)aaA>aaC p.K63N RFC4_ENST00000296273.2_Missense_Mutation_p.K63N|RFC4_ENST00000433496.1_Missense_Mutation_p.K63N NM_181573.2 NP_853551.1 P35249 RFC4_HUMAN replication factor C (activator 1) 4, 37kDa 63 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) CTAAAGATTTTTTCAGCACTG 0.378000 24 106 0 0 0.006320 0 0 ANO4 121601 broad.mit.edu 37 12 101520815 101520815 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:101520815G>C ENST00000392979.3 + 26 3091 c.2730G>C c.(2728-2730)aaG>aaC p.K910N ANO4_ENST00000392977.3_Missense_Mutation_p.K945N|ANO4_ENST00000299222.9_Missense_Mutation_p.K465N|ANO4_ENST00000550015.1_Missense_Mutation_p.K465N NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 945 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 AGAGGAAGAAGAATGGAAAAG 0.488000 HNSCC(74;0.22) 6 16 0 0 0.001984 0 0 LIFR 3977 broad.mit.edu 37 5 38482196 38482196 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:38482196C>T ENST00000263409.4 - 20 2957 c.2795G>A c.(2794-2796)cGt>cAt p.R932H LIFR_ENST00000453190.2_Missense_Mutation_p.R932H NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 932 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) ATCTTCAGGACGCTCAGCTAC 0.433000 T PLAG1 salivary adenoma 29 188 0 0 0.012213 0 0 TSPYL5 85453 broad.mit.edu 37 8 98289495 98289495 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr8:98289495G>A ENST00000322128.3 - 1 681 c.578C>T c.(577-579)tCg>tTg p.S193L NM_033512.2 NP_277047.2 Q86VY4 TSYL5_HUMAN TSPY-like 5 193 cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth nucleus protein binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 20 Breast(36;2.56e-06) TGGGGGCCCCGACCCTGCATC 0.622000 24 96 0 0 0.003954 0 0 DEFB114 245928 broad.mit.edu 37 6 49928037 49928037 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr6:49928037C>T ENST00000322066.3 - 2 177 c.178G>A c.(178-180)Gag>Aag p.E60K NM_001037499.1 NP_001032588.1 Q30KQ6 DB114_HUMAN defensin, beta 114 60 defense response to bacterium extracellular region kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 Lung NSC(77;0.042) TACAATTTCTCAGTGCAGCAA 0.378000 12 24 0 0 0.001855 0 0 PCDH8 5100 broad.mit.edu 37 13 53419596 53419596 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr13:53419596C>T ENST00000377942.3 - 2 3006 c.2803G>A c.(2803-2805)Gct>Act p.A935T PCDH8_ENST00000338862.4_Missense_Mutation_p.A838T NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 935 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) TTTTTCAGAGCGTCCCCGCTG 0.522000 7 74 0 0 0.003080 0 0 TEX101 83639 broad.mit.edu 37 19 43920656 43920656 + Missense_Mutation SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:43920656T>C ENST00000602198.1 + 6 836 c.394T>C c.(394-396)Tgt>Cgt p.C132R TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Missense_Mutation_p.C132R|TEX101_ENST00000598265.1_Missense_Mutation_p.C114R NM_031451.4 NP_113639.4 Q9BY14 TX101_HUMAN testis expressed 101 114 anchored to membrane|plasma membrane large_intestine(1)|lung(12)|ovary(1)|skin(1) 15 Prostate(69;0.0199) GGATTCCTTCTGTAATGACAA 0.507000 98 142 0 0 0.014410 0 0 SKIDA1 387640 broad.mit.edu 37 10 21804965 21804965 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr10:21804965C>G ENST00000449193.2 - 4 4039 c.1787G>C c.(1786-1788)cGa>cCa p.R596P SKIDA1_ENST00000444772.3_Missense_Mutation_p.R517P NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 CCTAGCCTCTCGGAGTATTCT 0.438000 16 81 0 0 0.003163 0 0 MUC16 94025 broad.mit.edu 37 19 9088493 9088493 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:9088493C>G ENST00000397910.4 - 1 3525 c.3322G>C c.(3322-3324)Gat>Cat p.D1108H NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1108 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding 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 TAGACATCATCAGAAAATGTG 0.443000 18 36 0 0 0.004990 0 0 NEB 4703 broad.mit.edu 37 2 152397296 152397296 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:152397296G>T ENST00000427231.2 - 137 20904 c.20702C>A c.(20701-20703)gCc>gAc p.A6901D NEB_ENST00000409198.1_Missense_Mutation_p.A5200D|NEB_ENST00000604864.1_Missense_Mutation_p.A6901D|NEB_ENST00000172853.10_Missense_Mutation_p.A5200D|NEB_ENST00000397345.3_Missense_Mutation_p.A6901D|NEB_ENST00000603639.1_Missense_Mutation_p.A6901D NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 5200 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 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) CTCTTTGGTGGCAAGTTCAAC 0.413000 26 45 2.79863e-10 3.18668e-10 0.004656 1 0 NIN 51199 broad.mit.edu 37 14 51259494 51259494 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr14:51259494G>A ENST00000245441.5 - 5 561 c.371C>T c.(370-372)aCg>aTg p.T124M NIN_ENST00000486200.1_5'UTR|NIN_ENST00000453196.1_Missense_Mutation_p.T124M|NIN_ENST00000382041.3_Missense_Mutation_p.T124M|NIN_ENST00000382043.4_Missense_Mutation_p.T124M|NIN_ENST00000389868.3_Missense_Mutation_p.T124M|NIN_ENST00000530997.2_Missense_Mutation_p.T124M|NIN_ENST00000324330.9_Missense_Mutation_p.T124M NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 124 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) CTCAATCACCGTCACTTCAGG 0.542000 T PDGFRB MPD 26 45 0 0 0.004656 0 0 NR0B1 190 broad.mit.edu 37 X 30327172 30327172 + Silent SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chrX:30327172C>A ENST00000378970.4 - 1 543 c.309G>T c.(307-309)ccG>ccT p.P103P NR0B1_ENST00000453287.1_Silent_p.P103P NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 103 4 X 67 AA tandem repeats. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) AGCCCCAGCACGGACCCAGCG 0.677000 OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 15 2.37509e-13 2.73894e-13 0.010504 1 0 FAM86DP 692099 broad.mit.edu 37 3 75477008 75477008 + RNA SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr3:75477008C>T ENST00000459803.1 - 0 430 NR_024241.1 CCTGTGGTACCATGGGAGATG 0.582000 20 10 0 0 0.002780 0 0 IGKV1D-43 28891 broad.mit.edu 37 2 90249391 90249391 + RNA SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:90249391C>T ENST00000468879.1 + 0 528 TATTATAGTACCCCTCCCACA 0.517000 54 138 0 0 0.014410 0 0 SCN3A 6328 broad.mit.edu 37 2 166003416 166003416 + Nonsense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:166003416G>A ENST00000360093.3 - 12 1995 c.1504C>T c.(1504-1506)Cga>Tga p.R502* SCN3A_ENST00000409101.3_Nonsense_Mutation_p.R502*|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.R502* NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 502 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TTCTTCCTTCGGTTCCTCCAT 0.428000 51 96 0 0 0.014410 0 0 SAA4 6291 broad.mit.edu 37 11 18257396 18257396 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr11:18257396C>T ENST00000278222.4 - 2 258 c.78G>A c.(76-78)aaG>aaA p.K26K SAA2-SAA4_ENST00000524555.1_RNA NM_006512.3 NP_006503.2 serum amyloid A4, constitutive haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1) 13 GGAGAGCCTCCTTGAAAAACG 0.493000 24 79 0 0 0.005443 0 0 VPS16 64601 broad.mit.edu 37 20 2845938 2845938 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr20:2845938C>T ENST00000380445.3 + 21 2221 c.2149C>T c.(2149-2151)Cgt>Tgt p.R717C VPS16_ENST00000380443.3_Missense_Mutation_p.R403C|VPS16_ENST00000380469.3_Missense_Mutation_p.R573C|PTPRA_ENST00000380393.3_5'UTR NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 717 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 GCAGCTGGCACGTGACTTCCG 0.592000 23 60 0 0 0.014323 0 0 POLE 5426 broad.mit.edu 37 12 133249289 133249289 + Missense_Mutation SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:133249289T>C ENST00000320574.5 - 15 1653 c.1610A>G c.(1609-1611)gAg>gGg p.E537G POLE_ENST00000535270.1_Missense_Mutation_p.E510G NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 537 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GACGTAGGTCTCAGAGTCCAG 0.577000 DNA polymerases (catalytic subunits) 31 64 0 0 0.012213 0 0 SEC16A 9919 broad.mit.edu 37 9 139366454 139366454 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr9:139366454C>T ENST00000313050.7 - 2 3750 c.3677G>A c.(3676-3678)aGc>aAc p.S1226N SEC16A_ENST00000290037.6_Missense_Mutation_p.S1048N|SEC16A_ENST00000371706.3_Missense_Mutation_p.S1048N|SEC16A_ENST00000431893.2_Missense_Mutation_p.S1048N NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 1048 Required for endoplasmic reticulum localization. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) CGAGGAGTGGCTGGCTCGGGA 0.637000 33 37 0 0 0.013726 0 0 PLEKHH3 79990 broad.mit.edu 37 17 40823111 40823111 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:40823111C>T ENST00000293349.6 - 9 1752 c.1322G>A c.(1321-1323)cGg>cAg p.R441Q PLEKHH3_ENST00000591022.1_Missense_Mutation_p.R441Q|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.R441Q Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 441 FERM. signal transduction cytoskeleton endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2) 13 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) GTTGCGGCTCCGGGCCAAGCC 0.667000 32 55 0 0 0.012213 0 0 DCLK2 166614 broad.mit.edu 37 4 151168815 151168815 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr4:151168815G>A ENST00000296550.7 + 13 2593 c.1839G>A c.(1837-1839)ccG>ccA p.P613P DCLK2_ENST00000302176.8_Silent_p.P630P|DCLK2_ENST00000506325.1_Silent_p.P612P NM_001040260.3 NP_001035350.2 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 613 Protein kinase. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) TGGAGTTTCCGGCCCCCTACT 0.512000 12 25 0 0 0.001855 0 0 ITPR2 3709 broad.mit.edu 37 12 26808679 26808679 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:26808679G>A ENST00000381340.3 - 20 2967 c.2551C>T c.(2551-2553)Cct>Tct p.P851S NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 851 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TCCCCAAAAGGAAAGGGCTGG 0.338000 37 61 0 0 0.004289 0 0 CST3 1471 broad.mit.edu 37 20 23614554 23614554 + Nonstop_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr20:23614554T>A ENST00000398411.1 - 3 522 c.440A>T c.(439-441)tAg>tTg p.*147L CST3_ENST00000398409.1_Nonstop_Mutation_p.*147L|CST3_ENST00000376925.3_Nonstop_Mutation_p.*147L P01034 CYTC_HUMAN cystatin C 0 defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly extracellular space beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding large_intestine(2)|lung(1)|ovary(1) 4 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) TACAGACCCCTAGGCGTCCTG 0.577000 31 97 0 0 0.010818 0 0 SYN3 8224 broad.mit.edu 37 22 32909744 32909744 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr22:32909744C>G ENST00000358763.2 - 14 1920 c.1678G>C c.(1678-1680)Gac>Cac p.D560H SYN3_ENST00000467095.1_5'UTR|SYN3_ENST00000332840.5_Missense_Mutation_p.D560H NM_001135774.1 NP_001129246.1 O14994 SYN3_HUMAN synapsin III 560 E. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity 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 TTGGCCTCGTCTTCACTTGGG 0.562000 28 55 0 0 0.005443 0 0 WDR54 84058 broad.mit.edu 37 2 74652827 74652827 + Nonstop_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:74652827G>C ENST00000348227.4 + 10 1092 c.1004G>C c.(1003-1005)tGa>tCa p.*335S WDR54_ENST00000409791.1_3'UTR NM_032118.2 NP_115494.1 Q9H977 WDR54_HUMAN WD repeat domain 54 0 breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 AGCAGTGTGTGAGAAGAGCAG 0.507000 71 98 0 0 0.014410 0 0 NLRP11 204801 broad.mit.edu 37 19 56303779 56303779 + Missense_Mutation SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:56303779A>G ENST00000443188.1 - 9 3111 c.2401T>C c.(2401-2403)Ttc>Ctc p.F801L NLRP11_ENST00000589093.1_Missense_Mutation_p.F801L|NLRP11_ENST00000589824.2_Missense_Mutation_p.F747L|NLRP11_ENST00000360133.3_Missense_Mutation_p.F747L|NLRP11_ENST00000592953.1_Missense_Mutation_p.F702L NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 801 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) GTTGGGCTGAACAGAAGCACT 0.473000 9 78 0 0 0.004482 0 0 TARS2 80222 broad.mit.edu 37 1 150478094 150478094 + Missense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:150478094C>A ENST00000369064.3 + 17 1955 c.1921C>A c.(1921-1923)Ctg>Atg p.L641M TARS2_ENST00000606933.1_Missense_Mutation_p.L559M|TARS2_ENST00000369054.2_Missense_Mutation_p.L511M NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 641 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) GGCTGCAGGACTGGTCAGTGA 0.527000 42 69 4.0306e-16 4.83315e-16 0.014410 1 0 HSPA8 3312 broad.mit.edu 37 11 122928593 122928593 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr11:122928593T>A ENST00000534624.1 - 9 2066 c.1790A>T c.(1789-1791)aAa>aTa p.K597I HSPA8_ENST00000526110.1_Missense_Mutation_p.K578I|HSPA8_ENST00000532636.1_Missense_Mutation_p.K597I|HSPA8_ENST00000227378.3_Missense_Mutation_p.K597I|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000534319.1_Missense_Mutation_p.K361I|HSPA8_ENST00000533540.1_Missense_Mutation_p.K451I NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 597 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CTCCAGCTCTTTCTGTTGATG 0.463000 53 88 0 0 0.014410 0 0 IKBIP 121457 broad.mit.edu 37 12 99020188 99020188 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:99020188T>A ENST00000299157.4 - 3 1027 c.654A>T c.(652-654)agA>agT p.R218S IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron NM_153687.3 NP_710154.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 219 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 CTTCTTCTTGTCTTTTTACTG 0.408000 25 58 0 0 0.003330 0 0 GNB2L1 10399 broad.mit.edu 37 5 180666087 180666087 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:180666087G>A ENST00000512805.1 - 5 1024 c.616C>T c.(616-618)Ctc>Ttc p.L206F GNB2L1_ENST00000511900.1_Missense_Mutation_p.L158F|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000376817.4_Missense_Mutation_p.L162F|GNB2L1_ENST00000511566.1_Missense_Mutation_p.L206F NM_006098.4 NP_006089.1 P63244 GBLP_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 206 apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding p.L206I(1) lung(3)|skin(2) 5 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11) GAAGCACAGAGGGATCCATCT 0.522000 47 45 0 0 0.014410 0 0 MGAM 8972 broad.mit.edu 37 7 141730195 141730195 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr7:141730195G>A ENST00000475668.2 + 11 1309 c.1255G>A c.(1255-1257)Gag>Aag p.E419K MGAM_ENST00000549489.2_Missense_Mutation_p.E419K O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 419 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TTATATGGATGAGAGAAGGGA 0.348000 7 13 0 0 0.004482 0 0 RRM2B 50484 broad.mit.edu 37 8 103236307 103236307 + Silent SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr8:103236307A>G ENST00000251810.3 - 5 760 c.517T>C c.(517-519)Ttg>Ctg p.L173L RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000395912.2_Silent_p.L121L NM_001172478.1|NM_015713.4 NP_001165949.1|NP_056528.2 Q7LG56 RIR2B_HUMAN ribonucleotide reductase M2 B (TP53 inducible) 173 deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion nucleoplasm ribonucleoside-diphosphate reductase activity|transition metal ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 9 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000728) ATCCATCGCAAGGCCCAATCT 0.333000 Modulation of nucleotide pools 66 82 0 0 0.014410 0 0 ATP13A1 57130 broad.mit.edu 37 19 19766741 19766741 + Splice_Site SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:19766741C>G ENST00000357324.6 - 9 1241 c.1213_splice c.e9-1 p.P405_splice ATP13A1_ENST00000291503.5_Splice_Site_p.P287_splice NM_020410.2 NP_065143.2 Q9HD20 AT131_HUMAN ATPase type 13A1 405 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.P405P(1)|p.?(1) central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 CGCTGTCAACCGCTGGGGAGA 0.652000 4 16 0 0 0.009096 0 0 DUSP26 78986 broad.mit.edu 37 8 33451188 33451188 + Missense_Mutation SNP C C T rs141858173 TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr8:33451188C>T ENST00000256261.4 - 3 816 c.299G>A c.(298-300)cGa>cAa p.R100Q DUSP26_ENST00000523956.1_Missense_Mutation_p.R100Q NM_024025.1 NP_076930.1 Q9BV47 DUS26_HUMAN dual specificity phosphatase 26 (putative) 100 Tyrosine-protein phosphatase. Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1) 15 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) GGGCGTGCCTCGCCACCGGCT 0.632000 10 34 0 0 0.006214 0 0 TRIM48 79097 broad.mit.edu 37 11 55032387 55032387 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr11:55032387C>T ENST00000417545.2 + 2 142 c.56C>T c.(55-57)tCt>tTt p.S19F NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 3 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AACATGAATTCTGGAATCTCG 0.463000 89 188 0 0 0.014410 0 0 EPHA3 2042 broad.mit.edu 37 3 89456492 89456492 + Silent SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr3:89456492C>G ENST00000336596.2 + 8 1893 c.1668C>G c.(1666-1668)ctC>ctG p.L556L EPHA3_ENST00000494014.1_Silent_p.L556L NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 556 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TTATTCTCCTCACTGTTGTCA 0.408000 TSP Lung(6;0.00050) 10 13 0 0 0.010729 0 0 AFTPH 54812 broad.mit.edu 37 2 64780007 64780007 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:64780007C>T ENST00000422803.1 + 2 1713 c.1399C>T c.(1399-1401)Cac>Tac p.H467Y AFTPH_ENST00000409183.1_Missense_Mutation_p.H98Y|AFTPH_ENST00000238855.7_Missense_Mutation_p.H467Y|AFTPH_ENST00000238856.4_Missense_Mutation_p.H467Y|AFTPH_ENST00000409933.1_Missense_Mutation_p.H467Y Q6ULP2 AFTIN_HUMAN aftiphilin 467 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 GTCTTCAGAGCACTTTCCACA 0.413000 33 58 0 0 0.010818 0 0 PKD1L1 168507 broad.mit.edu 37 7 47898336 47898336 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr7:47898336C>G ENST00000289672.2 - 27 4347 c.4297G>C c.(4297-4299)Gaa>Caa p.E1433Q NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1433 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TTCGAGTTTTCTTGCTCAGAG 0.438000 16 57 0 0 0.004990 0 0 RFX6 222546 broad.mit.edu 37 6 117198535 117198535 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr6:117198535C>T ENST00000332958.2 + 1 113 c.97C>T c.(97-99)Ctg>Ttg p.L33L NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 33 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TGTGCAGCTCCTGGGCAAGGG 0.667000 15 6 0 0 0.004007 0 0 ENTPD8 377841 broad.mit.edu 37 9 140330690 140330690 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr9:140330690G>A ENST00000371506.2 - 7 1008 c.825C>T c.(823-825)ctC>ctT p.L275L ENTPD8_ENST00000472938.1_Silent_p.L275L|ENTPD8_ENST00000344119.2_Silent_p.L275L NM_001033113.1 NP_001028285.1 Q5MY95 ENTP8_HUMAN ectonucleoside triphosphate diphosphohydrolase 8 275 integral to membrane|plasma membrane ATP binding biliary_tract(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898) GGTAGCCGCTGAGGTAGCACG 0.706000 12 32 0 0 0.013537 0 0 ABCF1 23 broad.mit.edu 37 6 30546284 30546284 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr6:30546284G>C ENST00000326195.8 + 6 531 c.419G>C c.(418-420)aGt>aCt p.S140T ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.S140T NM_001025091.1 NP_001020262.1 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F (GCN20), member 1 140 inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 CAGGATCAGAGTGAGGAAGAG 0.502000 19 5 0 0 0.012319 0 0 PLBD1 79887 broad.mit.edu 37 12 14706306 14706306 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:14706306C>G ENST00000240617.5 - 2 808 c.156G>C c.(154-156)aaG>aaC p.K52N NM_024829.5 NP_079105.4 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 52 lipid catabolic process extracellular region hydrolase activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 CTTGTACTGTCTTTTCAGCAG 0.413000 26 38 0 0 0.005443 0 0 SRGAP1 57522 broad.mit.edu 37 12 64521813 64521813 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:64521813G>A ENST00000355086.3 + 21 3237 c.2713G>A c.(2713-2715)Gac>Aac p.D905N SRGAP1_ENST00000543397.1_Missense_Mutation_p.D842N|SRGAP1_ENST00000357825.3_Missense_Mutation_p.D882N NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 905 axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CCTCAACAATGACAGTCCTGA 0.617000 31 54 0 0 0.010818 0 0 SELP 6403 broad.mit.edu 37 1 169576215 169576215 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:169576215G>C ENST00000263686.6 - 9 1528 c.1491C>G c.(1489-1491)aaC>aaG p.N497K SELP_ENST00000367786.2_Missense_Mutation_p.N435K|SELP_ENST00000367794.2_Missense_Mutation_p.N435K|SELP_ENST00000367793.2_Missense_Mutation_p.N435K|SELP_ENST00000367791.2_Missense_Mutation_p.N373K|SELP_ENST00000458599.2_Missense_Mutation_p.N435K|SELP_ENST00000367792.2_Missense_Mutation_p.N435K|SELP_ENST00000367788.2_Missense_Mutation_p.N435K NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 497 Sushi 5. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CAGAATTCCAGTTTCCAGTAG 0.453000 38 40 0 0 0.007835 0 0 CPS1 1373 broad.mit.edu 37 2 211473156 211473156 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:211473156C>T ENST00000233072.5 + 19 2460 c.2264C>T c.(2263-2265)tCc>tTc p.S755F CPS1_ENST00000451903.2_Missense_Mutation_p.S304F|CPS1_ENST00000430249.2_Missense_Mutation_p.S761F NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 755 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 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) AACGTCGTATCCGGGAAGACA 0.423000 27 47 0 0 0.006320 0 0 SERPINH1 871 broad.mit.edu 37 11 75277799 75277799 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr11:75277799C>T ENST00000524558.1 + 2 1840 c.405C>T c.(403-405)taC>taT p.Y135Y SERPINH1_ENST00000358171.3_Silent_p.Y135Y|SERPINH1_ENST00000533603.1_Silent_p.Y135Y|SERPINH1_ENST00000530284.1_Silent_p.Y135Y P50454 SERPH_HUMAN serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 135 regulation of proteolysis|response to unfolded protein endoplasmic reticulum lumen|ER-Golgi intermediate compartment collagen binding|serine-type endopeptidase inhibitor activity endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1) 15 Ovarian(111;0.11) GCCGACTGTACGGACCCAGCT 0.642000 16 25 0 0 0.003163 0 0 TEX2 55852 broad.mit.edu 37 17 62290905 62290905 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:62290905T>A ENST00000258991.3 - 2 757 c.673A>T c.(673-675)Act>Tct p.T225S TEX2_ENST00000583097.1_Missense_Mutation_p.T225S|TEX2_ENST00000584379.1_Missense_Mutation_p.T225S Q8IWB9 TEX2_HUMAN testis expressed 2 225 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) TGCCGGGAAGTGTCCGTGGAC 0.532000 41 58 0 0 0.007835 0 0 PTPRN2 5799 broad.mit.edu 37 7 157959789 157959789 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr7:157959789G>A ENST00000389413.3 - 6 847 c.744C>T c.(742-744)gcC>gcT p.A248A PTPRN2_ENST00000409483.1_Silent_p.A210A|PTPRN2_ENST00000404321.2_Silent_p.A271A|PTPRN2_ENST00000389418.4_Silent_p.A248A|PTPRN2_ENST00000389416.4_Silent_p.A231A NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 248 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity 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) GGGCAGCATAGGCACTGAGGG 0.662000 13 12 0 0 0.001855 0 0 CASP7 840 broad.mit.edu 37 10 115481445 115481445 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr10:115481445G>A ENST00000369321.2 + 5 702 c.382G>A c.(382-384)Gag>Aag p.E128K CASP7_ENST00000345633.4_Missense_Mutation_p.E95K|CASP7_ENST00000468790.1_3'UTR|CASP7_ENST00000369315.1_Missense_Mutation_p.E95K|CASP7_ENST00000369331.4_Missense_Mutation_p.E95K|CASP7_ENST00000369318.3_Missense_Mutation_p.E95K|CASP7_ENST00000452490.2_Missense_Mutation_p.E70K NM_033338.5 NP_203124.1 P55210 CASP7_HUMAN caspase 7, apoptosis-related cysteine peptidase 95 activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm cysteine-type endopeptidase activity|protein binding kidney(1)|large_intestine(1)|lung(5)|ovary(1) 8 Colorectal(252;0.0946)|Breast(234;0.188) Epithelial(162;0.012)|all cancers(201;0.014) CAAAGATGCCGAGGCGCTCTT 0.502000 39 71 0 0 0.005524 0 0 PSG11 5680 broad.mit.edu 37 19 43529018 43529018 + Silent SNP G G A rs138426313 TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:43529018G>A ENST00000401740.1 - 2 358 c.255C>T c.(253-255)gaC>gaT p.D85D PSG11_ENST00000320078.7_Silent_p.D85D|PSG11_ENST00000403486.1_Intron|PSG11_ENST00000306322.7_Intron Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 85 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) TTATTTGACCGTCTACTACAT 0.443000 56 179 0 0 0.014410 0 0 ZNF347 84671 broad.mit.edu 37 19 53644866 53644866 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:53644866T>A ENST00000452676.2 - 5 1644 c.1218A>T c.(1216-1218)gaA>gaT p.E406D ZNF347_ENST00000334197.7_Missense_Mutation_p.E405D|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.E406D NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) CCTTGCCACATTCATTACATT 0.423000 42 60 0 0 0.006230 0 0 MFI2 4241 broad.mit.edu 37 3 196735690 196735690 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr3:196735690C>T ENST00000296350.5 - 12 1785 c.1672G>A c.(1672-1674)Ggc>Agc p.G558S NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 558 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) CTGAAGGCGCCGCGGTAGCCG 0.672000 26 60 0 0 0.006320 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999149 46999149 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr10:46999149G>C ENST00000374314.4 + 1 1224 c.269G>C c.(268-270)tGg>tCg p.W90S GPRIN2_ENST00000374317.1_Missense_Mutation_p.W90S O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 90 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 GGAGGCCACTGGTGGAGCAGC 0.667000 9 58 0 0 0.004007 0 0 MICU3 286097 broad.mit.edu 37 8 16884802 16884802 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr8:16884802G>T ENST00000318063.5 + 1 56 c.14G>T c.(13-15)cGa>cTa p.R5L NM_181723.2 NP_859074.1 mitochondrial calcium uptake family, member 3 p.R5P(1) GCTGCGCTGCGAAGGCTCTTG 0.731000 8 15 1.58986e-06 1.74434e-06 0.008291 1 0 MTHFD2P1 100287639 broad.mit.edu 37 3 95374086 95374086 + RNA SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr3:95374086C>T ENST00000494840.1 - 0 1775 NR_077228.1 CTATTGTGAACAGGTTTAGAA 0.393000 4 22 0 0 0.009096 0 0 OR10S1 219873 broad.mit.edu 37 11 123847492 123847492 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr11:123847492T>A ENST00000531945.1 - 1 996 c.907A>T c.(907-909)Act>Tct p.T303S NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TTCCGCAAAGTGTAAATGAAT 0.537000 43 83 0 0 0.010771 0 0 ALKBH1 8846 broad.mit.edu 37 14 78161201 78161201 + Nonsense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr14:78161201C>T ENST00000216489.3 - 3 350 c.335G>A c.(334-336)tGg>tAg p.W112* ALKBH1_ENST00000554097.1_5'UTR NM_006020.2 NP_006011.2 Q13686 ALKB1_HUMAN alkB, alkylation repair homolog 1 (E. coli) 112 DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) CACCCAGTGCCACTGGTAACC 0.418000 27 51 0 0 0.003954 0 0 MMP21 118856 broad.mit.edu 37 10 127462420 127462420 + Missense_Mutation SNP A A T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr10:127462420A>T ENST00000368808.3 - 2 676 c.677T>A c.(676-678)aTc>aAc p.I226N NM_147191.1 NP_671724.1 Q8N119 MMP21_HUMAN matrix metallopeptidase 21 226 proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 16 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) GCCCAGCTTGATGTCGACCGC 0.726000 22 41 0 0 0.006320 0 0 NUTM1 256646 broad.mit.edu 37 15 34638159 34638159 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr15:34638159G>T ENST00000537011.1 + 2 405 c.23G>T c.(22-24)gGa>gTa p.G8V NUTM1_ENST00000333756.4_5'UTR|NUTM1_ENST00000438749.3_Intron NUT midline carcinoma, family member 1 CTGGGTCCTGGACCTGACTGC 0.527000 24 44 1.64293e-13 1.91088e-13 0.003330 1 0 MYO7B 4648 broad.mit.edu 37 2 128384629 128384629 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:128384629T>A ENST00000389524.4 + 31 4270 c.4217T>A c.(4216-4218)cTg>cAg p.L1406Q MYO7B_ENST00000428314.1_Missense_Mutation_p.L1406Q|MYO7B_ENST00000409090.1_Missense_Mutation_p.L259Q|MYO7B_ENST00000409816.2_Missense_Mutation_p.L1406Q Q6PIF6 MYO7B_HUMAN myosin VIIB 1406 FERM 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CAGTGGCCGCTGCTCTTCTCC 0.637000 7 12 0 0 0.003080 0 0 NBEA 26960 broad.mit.edu 37 13 35619136 35619136 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr13:35619136G>A ENST00000540320.1 + 3 1113 c.579G>A c.(577-579)aaG>aaA p.K193K NBEA_ENST00000379939.2_Silent_p.K193K|NBEA_ENST00000310336.4_Silent_p.K193K|NBEA_ENST00000400445.3_Silent_p.K193K Q8NFP9 NBEA_HUMAN neurobeachin 193 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TCACTGTCAAGGAGTTGAAGC 0.418000 9 14 0 0 0.006214 0 0 XYLT1 64131 broad.mit.edu 37 16 17292261 17292261 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr16:17292261T>A ENST00000261381.6 - 5 1181 c.1097A>T c.(1096-1098)tAc>tTc p.Y366F NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 366 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CCGATGCAGGTAATTAGAGCG 0.587000 10 17 0 0 0.008291 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140769259 140769259 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:140769259C>T ENST00000519479.1 + 1 1808 c.1808C>T c.(1807-1809)tCc>tTc p.S603F PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCTGGCTGTCCTACCACGTG 0.662000 28 21 0 0 0.006320 0 0 CLSTN2 64084 broad.mit.edu 37 3 140281753 140281753 + Nonsense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr3:140281753C>A ENST00000458420.3 + 14 2503 c.2313C>A c.(2311-2313)tgC>tgA p.C771* NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 771 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 GGATTAAGTGCTCAGAACTCA 0.562000 HNSCC(16;0.037) 10 38 0.000673444 0.00071013 0.008291 1 0 FOSB 2354 broad.mit.edu 37 19 45971882 45971882 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:45971882C>T ENST00000353609.3 + 1 630 c.38C>T c.(37-39)tCc>tTc p.S13F FOSB_ENST00000585836.1_Missense_Mutation_p.S13F|FOSB_ENST00000592436.1_Missense_Mutation_p.S13F|FOSB_ENST00000590335.1_Missense_Mutation_p.S13F|FOSB_ENST00000443841.2_Missense_Mutation_p.S13F|FOSB_ENST00000591858.1_Missense_Mutation_p.S13F|FOSB_ENST00000417353.2_Missense_Mutation_p.S13F|ERCC1_ENST00000423698.2_Intron NM_006732.2 NP_006723.2 P53539 FOSB_HUMAN FBJ murine osteosarcoma viral oncogene homolog B 13 behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 13 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) GACTCCGGCTCCCGGTGCAGC 0.632000 56 66 0 0 0.014410 0 0 VPS72 6944 broad.mit.edu 37 1 151150569 151150569 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:151150569C>T ENST00000354473.4 - 5 651 c.615G>A c.(613-615)cgG>cgA p.R205R VPS72_ENST00000496809.1_5'UTR NM_001271087.1|NM_005997.1 NP_001258016.1|NP_005988.1 Q15906 VPS72_HUMAN vacuolar protein sorting 72 homolog (S. cerevisiae) 205 chromatin modification|negative regulation of transcription from RNA polymerase II promoter nucleus|protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 14 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CGGGGCACTTCCGCTTCTTAT 0.493000 19 57 0 0 0.006122 0 0 KALRN 8997 broad.mit.edu 37 3 124369736 124369736 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr3:124369736C>T ENST00000360013.3 + 38 5870 c.5743C>T c.(5743-5745)Cct>Tct p.P1915S KALRN_ENST00000393496.1_Missense_Mutation_p.P256S|KALRN_ENST00000428018.2_Missense_Mutation_p.P186S|KALRN_ENST00000459915.1_Missense_Mutation_p.P7S|KALRN_ENST00000291478.4_Missense_Mutation_p.P218S NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1914 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 ACCCACACCTCCTAAAAACCC 0.542000 23 55 0 0 0.003954 0 0 APLP2 334 broad.mit.edu 37 11 130005458 130005458 + Splice_Site SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr11:130005458A>G ENST00000263574.5 + 13 1757 c.1684_splice c.e13-1 p.D562_splice APLP2_ENST00000345598.5_Splice_Site_p.D333_splice|APLP2_ENST00000338167.5_Splice_Site_p.D562_splice|APLP2_ENST00000278756.7_Splice_Site_p.D572_splice|APLP2_ENST00000543137.1_Splice_Site_p.D469_splice|APLP2_ENST00000528499.1_Splice_Site_p.D506_splice|APLP2_ENST00000539648.1_Splice_Site_p.D350_splice NM_001642.2 NP_001633.1 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 562 G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) TCTTCATCAGATGAGCTCCTT 0.587000 45 83 0 0 0.014410 0 0 LRG1 116844 broad.mit.edu 37 19 4538051 4538051 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:4538051C>T ENST00000306390.6 - 2 1405 c.945G>A c.(943-945)caG>caA p.Q315Q CTB-50L17.14_ENST00000586020.1_Intron NM_052972.2 NP_443204.1 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 315 LRRCT. extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CTTTTTGGGCCTGAAGCCAAC 0.592000 40 35 0 0 0.005524 0 0 AIDA 64853 broad.mit.edu 37 1 222843263 222843263 + Missense_Mutation SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:222843263T>C ENST00000340020.6 - 10 1099 c.893A>G c.(892-894)cAt>cGt p.H298R AIDA_ENST00000355727.2_Missense_Mutation_p.H216R|AIDA_ENST00000541237.1_Missense_Mutation_p.H274R|AIDA_ENST00000474863.1_5'UTR NM_022831.2 NP_073742.2 Q96BJ3 AIDA_HUMAN axin interactor, dorsalization associated 298 dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 10 TTGATGTAGATGAAGATAAAG 0.353000 18 31 0 0 0.003330 0 0 CELSR1 9620 broad.mit.edu 37 22 46931727 46931727 + Silent SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr22:46931727G>T ENST00000262738.3 - 1 1340 c.1341C>A c.(1339-1341)atC>atA p.I447I CELSR1_ENST00000395964.1_Silent_p.I447I NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 447 Cadherin 2. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCTCCACCTCGATGTACACGG 0.667000 16 35 1.52009e-12 1.74553e-12 0.003163 1 0 NARG2 79664 broad.mit.edu 37 15 60741642 60741642 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr15:60741642C>G ENST00000261520.4 - 10 1758 c.1524G>C c.(1522-1524)ttG>ttC p.L508F NARG2_ENST00000439632.1_Missense_Mutation_p.L371F NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 508 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 CAGATGTTTTCAAGTCACTAT 0.333000 28 51 0 0 0.009535 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135851202 135851202 + Missense_Mutation SNP A A T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:135851202A>T ENST00000264158.8 + 5 344 c.301A>T c.(301-303)Atg>Ttg p.M101L RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.M101L|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.M57L NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 101 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) TCCACAATCTATGCAAGATTT 0.348000 21 39 0 0 0.010504 0 0 MARCH10 162333 broad.mit.edu 37 17 60821758 60821758 + Missense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:60821758C>A ENST00000544856.2 - 6 889 c.511G>T c.(511-513)Gtg>Ttg p.V171L MARCH10_ENST00000583600.1_Missense_Mutation_p.V210L|MARCH10_ENST00000311269.5_Missense_Mutation_p.V172L|MARCH10_ENST00000456609.2_Missense_Mutation_p.V172L Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 172 ligase activity|zinc ion binding p.V172L(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 GGAACCGGCACCTTTGCAGGC 0.557000 52 96 3.89483e-19 4.77601e-19 0.014410 1 0 LCORL 254251 broad.mit.edu 37 4 17910776 17910776 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr4:17910776T>A ENST00000382226.5 - 5 731 c.623A>T c.(622-624)gAg>gTg p.E208V LCORL_ENST00000326877.3_Missense_Mutation_p.E208V|LCORL_ENST00000382224.1_Missense_Mutation_p.E124V|LCORL_ENST00000539056.1_Missense_Mutation_p.E121V NM_001166139.1 NP_001159611.1 Q8N3X6 LCORL_HUMAN ligand dependent nuclear receptor corepressor-like 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(1)|lung(1)|prostate(1) 4 GCCTTCCTGCTCTTCCTGAAG 0.348000 28 42 0 0 0.008361 0 0 CD34 947 broad.mit.edu 37 1 208072364 208072364 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:208072364G>A ENST00000356522.4 - 3 791 c.470C>T c.(469-471)cCc>cTc p.P157L CD34_ENST00000310833.7_Missense_Mutation_p.P157L|CD34_ENST00000537704.1_Intron|CD34_ENST00000485761.1_5'UTR NM_001773.2 NP_001764.1 P28906 CD34_HUMAN CD34 molecule 157 cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding p.P157H(1) kidney(2)|large_intestine(2)|lung(8)|ovary(1) 13 GGGTTTAGTGGGAGATGTTGC 0.468000 78 185 0 0 0.014410 0 0 PPAN 56342 broad.mit.edu 37 19 10225320 10225320 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:10225320C>G ENST00000556468.1 + 13 2318 c.2291C>G c.(2290-2292)cCa>cGa p.P764R P2RY11_ENST00000321826.4_Missense_Mutation_p.P344R|PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.P764R peter pan homolog (Drosophila) endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) AGCTGGAACCCAGAGGACGCC 0.657000 14 50 0 0 0.001855 0 0 GGNBP2 79893 broad.mit.edu 37 17 34943490 34943490 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:34943490C>T ENST00000304718.4 + 13 2021 c.1705C>T c.(1705-1707)Cac>Tac p.H569Y NM_024835.3 NP_079111.1 Q9H3C7 GGNB2_HUMAN gametogenetin binding protein 2 569 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 38 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) AAATACCATGCACACAGTGTT 0.463000 14 64 0 0 0.002450 0 0 PDGFRB 5159 broad.mit.edu 37 5 149503837 149503837 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:149503837G>T ENST00000261799.4 - 14 2468 c.1999C>A c.(1999-2001)Ctg>Atg p.L667M NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 667 Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GCCCCCAACAGGTTGACCACG 0.632000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 19 22 4.35082e-09 4.8722e-09 0.010504 1 0 AGO1 26523 broad.mit.edu 37 1 36372612 36372612 + Missense_Mutation SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:36372612T>G ENST00000373204.4 + 12 1687 c.1474T>G c.(1474-1476)Tat>Gat p.Y492D AGO1_ENST00000373206.1_Missense_Mutation_p.Y417D NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 TTTCTGCAAATATGCACAGGG 0.537000 37 52 0 0 0.006999 0 0 DNAH5 1767 broad.mit.edu 37 5 13928288 13928288 + Splice_Site SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:13928288C>A ENST00000265104.4 - 3 297 c.e3-1 NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity 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) TTCTTTCAATCTGGGAAAAAG 0.318000 Kartagener syndrome 23 72 3.5997e-14 4.22302e-14 0.014323 1 0 ACAP1 9744 broad.mit.edu 37 17 7251469 7251469 + Silent SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:7251469C>G ENST00000158762.3 + 16 1643 c.1437C>G c.(1435-1437)gtC>gtG p.V479V NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 479 Arf-GAP.|Required for interaction with GULP1. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 TGGGAAATGTCATCATCAACC 0.617000 7 24 0 0 0.001984 0 0 ENPEP 2028 broad.mit.edu 37 4 111398004 111398004 + Missense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr4:111398004C>A ENST00000265162.5 + 1 776 c.434C>A c.(433-435)cCg>cAg p.P145Q NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 145 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) ACCCGGCTCCCGGAGCTGAAG 0.627000 51 108 2.52991e-16 3.04713e-16 0.014410 1 0 SPEN 23013 broad.mit.edu 37 1 16254612 16254612 + Missense_Mutation SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:16254612A>G ENST00000375759.3 + 11 2081 c.1877A>G c.(1876-1878)tAt>tGt p.Y626C NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 626 Arg-rich.|Tyr-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TCCTACGACTATAACCAAGAT 0.398000 19 24 0 0 0.007413 0 0 RCOR1 23186 broad.mit.edu 37 14 103148296 103148296 + Silent SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr14:103148296A>G ENST00000262241.6 + 3 652 c.426A>G c.(424-426)caA>caG p.Q142Q RCOR1_ENST00000570597.1_Silent_p.Q139Q NM_015156.3 NP_055971.2 Q9UKL0 RCOR1_HUMAN REST corepressor 1 139 ELM2.|Interaction with HDAC1. blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 12 CACCCAATCAAAATCTGTCAG 0.373000 13 18 0 0 0.003163 0 0 SLC27A6 28965 broad.mit.edu 37 5 128302163 128302163 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:128302163G>A ENST00000262462.4 + 1 1343 c.333G>A c.(331-333)ctG>ctA p.L111L SLC27A6_ENST00000395266.1_Silent_p.L111L|SLC27A6_ENST00000506176.1_Silent_p.L111L Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 111 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TGGCTCTGCTGATGAGCAATG 0.552000 13 10 0 0 0.013537 0 0 CUX2 23316 broad.mit.edu 37 12 111746236 111746236 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:111746236G>A ENST00000261726.6 + 14 1318 c.1164G>A c.(1162-1164)atG>atA p.M388I NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 388 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 CCTAGGGCATGGCCAAGCCTG 0.612000 18 27 0 0 0.006122 0 0 ZNF521 25925 broad.mit.edu 37 18 22807174 22807174 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr18:22807174C>T ENST00000361524.3 - 4 856 c.708G>A c.(706-708)agG>agA p.R236R ZNF521_ENST00000584787.1_Silent_p.R16R|ZNF521_ENST00000538137.2_Silent_p.R236R NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 236 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AGTCCTCCATCCTGGAACCGG 0.522000 T PAX5 ALL 13 67 0 0 0.001855 0 0 PRPSAP2 5636 broad.mit.edu 37 17 18833957 18833957 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:18833957C>T ENST00000268835.2 + 12 1339 c.1056C>T c.(1054-1056)atC>atT p.I352I PRPSAP2_ENST00000536323.1_Silent_p.I266I|PRPSAP2_ENST00000419071.2_Silent_p.I312I|PRPSAP2_ENST00000542013.1_Silent_p.I303I NM_002767.3 NP_002758.1 O60256 KPRB_HUMAN phosphoribosyl pyrophosphate synthetase-associated protein 2 352 nucleotide biosynthetic process enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 TCCGTCGGATCCACAATGGGG 0.458000 12 23 0 0 0.013537 0 0 TMEM67 91147 broad.mit.edu 37 8 94821068 94821068 + Splice_Site SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr8:94821068G>A ENST00000453321.3 + 24 2498 c.2439_splice c.e24-1 p.E814_splice TMEM67_ENST00000409623.3_Splice_Site_p.E733_splice NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 814 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) AACTTTTCAGGAAAATTTGTG 0.308000 4 18 0 0 0.000602 0 0 SYK 6850 broad.mit.edu 37 9 93650843 93650843 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr9:93650843G>A ENST00000375754.4 + 13 1917 c.1769G>A c.(1768-1770)cGg>cAg p.R590Q SYK_ENST00000375746.1_Missense_Mutation_p.R590Q|SYK_ENST00000375751.4_Missense_Mutation_p.R567Q|SYK_ENST00000375747.1_Missense_Mutation_p.R567Q NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 590 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 AAAGGAGAGCGGATGGGGTGC 0.438000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 6 16 0 0 0.001984 0 0 FAM189B 10712 broad.mit.edu 37 1 155223908 155223908 + Silent SNP A A T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:155223908A>T ENST00000361361.2 - 3 869 c.360T>A c.(358-360)gcT>gcA p.A120A FAM189B_ENST00000368368.3_Silent_p.A101A|FAM189B_ENST00000350210.2_Intron|FAM189B_ENST00000472550.1_Intron NM_006589.2 NP_006580.2 P81408 F189B_HUMAN family with sequence similarity 189, member B 120 integral to membrane WW domain binding breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 GGGCCAGTTGAGCATTCTTAC 0.532000 83 111 0 0 0.014410 0 0 SEZ6 124925 broad.mit.edu 37 17 27283247 27283247 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:27283247C>G ENST00000317338.12 - 16 3310 c.2882G>C c.(2881-2883)cGc>cCc p.R961P SEZ6_ENST00000442608.3_Missense_Mutation_p.R948P|SEZ6_ENST00000335960.6_Silent_p.P493P|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.R961P Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 961 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) ggggcgggggcggggCAGCTG 0.582000 3 13 0 0 0.004672 0 0 GPR75 10936 broad.mit.edu 37 2 54080317 54080317 + Missense_Mutation SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:54080317T>C ENST00000394705.2 - 2 1847 c.1577A>G c.(1576-1578)gAa>gGa p.E526G ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron NM_006794.3 NP_006785.1 O95800 GPR75_HUMAN G protein-coupled receptor 75 526 integral to plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GCTGTCATATTCCTGCACTAA 0.408000 29 70 0 0 0.008361 0 0 NUTM1 256646 broad.mit.edu 37 15 34640628 34640628 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr15:34640628C>T ENST00000537011.1 + 3 941 c.559C>T c.(559-561)Ccg>Tcg p.P187S NUTM1_ENST00000333756.4_Missense_Mutation_p.P159S|NUTM1_ENST00000438749.3_Missense_Mutation_p.P177S NUT midline carcinoma, family member 1 TCCAGGCCTTCCGCCTCAGCC 0.587000 11 28 0 0 0.008291 0 0 GULP1 51454 broad.mit.edu 37 2 189458684 189458684 + Missense_Mutation SNP A A T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:189458684A>T ENST00000409843.1 + 13 1541 c.872A>T c.(871-873)gAc>gTc p.D291V GULP1_ENST00000409609.1_Silent_p.G287G|GULP1_ENST00000409805.1_Silent_p.G184G|GULP1_ENST00000359135.3_Silent_p.G287G|GULP1_ENST00000409580.1_Silent_p.G287G|GULP1_ENST00000409830.1_Silent_p.G287G NM_001252668.1|NM_016315.3 NP_001239597.1|NP_057399.1 Q9UBP9 GULP1_HUMAN GULP, engulfment adaptor PTB domain containing 1 0 apoptosis|lipid transport|phagocytosis, engulfment cytoplasm|intracellular membrane-bounded organelle signal transducer activity endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158) TCAAAATGGGACTAACTCTTG 0.338000 9 26 0 0 0.008291 0 0 ANKRD26 22852 broad.mit.edu 37 10 27366291 27366291 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr10:27366291C>T ENST00000376087.4 - 9 1218 c.1053G>A c.(1051-1053)tcG>tcA p.S351S ANKRD26_ENST00000436985.2_Silent_p.S400S|ANKRD26_ENST00000466890.1_5'UTR NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 351 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 GGTTTGCTAACGACTTGTGGG 0.403000 38 58 0 0 0.006999 0 0 RNF10 9921 broad.mit.edu 37 12 121000765 121000765 + Silent SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:121000765G>T ENST00000325954.4 + 8 1607 c.1146G>T c.(1144-1146)ctG>ctT p.L382L RNF10_ENST00000413266.2_Silent_p.L382L NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 382 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AAGAGGCTCTGTCGGGATTGG 0.537000 30 48 6.00712e-18 7.30014e-18 0.012213 1 0 OR11H4 390442 broad.mit.edu 37 14 20711094 20711094 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr14:20711094C>T ENST00000315409.2 + 1 197 c.144C>T c.(142-144)acC>acT p.T48T NM_001004479.1 NP_001004479.1 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, member 4 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) ATGTCTTGACCTTGCTGGGAA 0.443000 30 60 0 0 0.006320 0 0 HTR7 3363 broad.mit.edu 37 10 92509226 92509226 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr10:92509226G>C ENST00000371721.3 - 2 907 c.665C>G c.(664-666)gCt>gGt p.A222G HTR7_ENST00000277874.6_Missense_Mutation_p.A222G|HTR7_ENST00000371719.2_Missense_Mutation_p.A222G|HTR7_ENST00000336152.3_Missense_Mutation_p.A222G P34969 5HT7R_HUMAN 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled 222 blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) TACATTCTGAGCCCATCCAAA 0.483000 40 58 0 0 0.009718 0 0 TRPM7 54822 broad.mit.edu 37 15 50906378 50906378 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr15:50906378C>T ENST00000313478.7 - 14 1858 c.1577G>A c.(1576-1578)tGc>tAc p.C526Y TRPM7_ENST00000560955.1_Missense_Mutation_p.C526Y NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 526 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) AGTATAGGTGCATCTGTAGGT 0.328000 19 39 0 0 0.008871 0 0 COL6A3 1293 broad.mit.edu 37 2 238287849 238287849 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:238287849G>C ENST00000295550.4 - 6 2379 c.1927C>G c.(1927-1929)Ctt>Gtt p.L643V COL6A3_ENST00000353578.4_Missense_Mutation_p.L437V|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.L437V|COL6A3_ENST00000392004.3_Missense_Mutation_p.L437V|COL6A3_ENST00000347401.3_Missense_Mutation_p.L442V|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000392003.2_Missense_Mutation_p.L236V NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 643 Nonhelical region.|VWFA 4. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCATCCAAAAGAAAGATGATA 0.388000 11 24 0 0 0.008291 0 0 GPC6 10082 broad.mit.edu 37 13 95055462 95055462 + Silent SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr13:95055462G>T ENST00000377047.4 + 9 2274 c.1659G>T c.(1657-1659)ctG>ctT p.L553L NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 553 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) TGCAGAGACTGTGCAGATAAT 0.517000 6 41 8.12818e-05 8.63819e-05 0.001984 1 0 SYNCRIP 10492 broad.mit.edu 37 6 86324795 86324795 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr6:86324795G>A ENST00000503906.1 - 1 157 c.158C>T c.(157-159)cCc>cTc p.P53L SYNCRIP_ENST00000355238.6_Silent_p.P517P|SYNCRIP_ENST00000369622.3_Silent_p.P517P CTCTACCGCGGGGAGGAGCAG 0.577000 85 45 0 0 0.014410 0 0 STAG1 10274 broad.mit.edu 37 3 136141433 136141433 + Missense_Mutation SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr3:136141433T>C ENST00000383202.2 - 19 2112 c.1856A>G c.(1855-1857)cAg>cGg p.Q619R STAG1_ENST00000536929.1_Missense_Mutation_p.Q203R|STAG1_ENST00000236698.5_Missense_Mutation_p.Q619R|STAG1_ENST00000434713.2_Missense_Mutation_p.Q393R NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 619 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 AAACTTAATCTGTTTTAATAA 0.308000 21 52 0 0 0.008871 0 0 CDX1 1044 broad.mit.edu 37 5 149562339 149562339 + Silent SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:149562339C>A ENST00000231656.8 + 2 536 c.454C>A c.(454-456)Cgg>Agg p.R152R NM_001804.2 NP_001795.2 P47902 CDX1_HUMAN caudal type homeobox 1 152 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|lung(1)|ovary(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGGTAAGACTCGGACCAAGGA 0.557000 97 73 9.72315e-31 1.21427e-30 0.014410 1 0 CSGALNACT2 55454 broad.mit.edu 37 10 43650762 43650762 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr10:43650762G>A ENST00000374466.3 + 2 500 c.165G>A c.(163-165)gaG>gaA p.E55E CSGALNACT2_ENST00000374464.1_Silent_p.E55E NM_018590.3 NP_061060.3 Q8N6G5 CGAT2_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 2 55 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 ATGGTAAAGAGTATTATCAAG 0.418000 15 44 0 0 0.003163 0 0 DOCK8 81704 broad.mit.edu 37 9 289552 289552 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr9:289552C>T ENST00000432829.2 + 4 487 c.171C>T c.(169-171)taC>taT p.Y57Y DOCK8_ENST00000469391.1_Silent_p.Y57Y|DOCK8_ENST00000453981.1_Silent_p.Y125Y NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 125 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) TTCAGACCTACATCCGTGAGT 0.333000 9 47 0 0 0.013537 0 0 MCF2L2 23101 broad.mit.edu 37 3 182897459 182897459 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr3:182897459C>T ENST00000328913.3 - 29 3424 c.3127G>A c.(3127-3129)Gac>Aac p.D1043N MCF2L2_ENST00000473233.1_Missense_Mutation_p.D1043N NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 1043 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TGACTGTCGTCCGACTGGAAA 0.587000 85 82 0 0 0.014410 0 0 MYEOV2 150678 broad.mit.edu 37 2 241069334 241069334 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:241069334C>T ENST00000307266.3 - 4 374 c.375G>A c.(373-375)tcG>tcA p.S125S NM_138336.1 NP_612209.1 Q8WXC6 MYOV2_HUMAN myeloma overexpressed 2 0 breast(1)|lung(5)|pancreas(1) 7 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) TTACCTCTTCCGACACCACAG 0.617000 34 65 0 0 0.006230 0 0 NAV2 89797 broad.mit.edu 37 11 20083856 20083856 + Missense_Mutation SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr11:20083856A>G ENST00000396085.1 + 20 5196 c.4835A>G c.(4834-4836)cAt>cGt p.H1612R NAV2_ENST00000396087.3_Missense_Mutation_p.H1668R|NAV2_ENST00000349880.4_Missense_Mutation_p.H1612R|NAV2_ENST00000527559.2_Missense_Mutation_p.H1597R|NAV2_ENST00000540292.1_Missense_Mutation_p.H1599R|NAV2_ENST00000533917.1_Missense_Mutation_p.H676R|NAV2_ENST00000311043.8_Missense_Mutation_p.H676R|NAV2_ENST00000360655.4_Missense_Mutation_p.H1548R NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1668 Ser-rich. nucleus ATP binding|helicase activity 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 TTAATAGTTCATGGATCCTCA 0.423000 11 50 0 0 0.013537 0 0 NR2F1 7025 broad.mit.edu 37 5 92923999 92923999 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:92923999C>T ENST00000327111.3 + 2 2527 c.840C>T c.(838-840)gcC>gcT p.A280A NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 280 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) TGGCCGCCGCCGGCCTGCATG 0.667000 25 23 0 0 0.004656 0 0 TRPM7 54822 broad.mit.edu 37 15 50906377 50906377 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr15:50906377G>A ENST00000313478.7 - 14 1859 c.1578C>T c.(1576-1578)tgC>tgT p.C526C TRPM7_ENST00000560955.1_Silent_p.C526C NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 526 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TAGTATAGGTGCATCTGTAGG 0.323000 18 38 0 0 0.007413 0 0 APLP1 333 broad.mit.edu 37 19 36368688 36368688 + Missense_Mutation SNP G G A rs142258705 TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:36368688G>A ENST00000221891.4 + 12 1705 c.1513G>A c.(1513-1515)Gag>Aag p.E505K APLP1_ENST00000537454.2_Missense_Mutation_p.E466K|APLP1_ENST00000586861.1_Missense_Mutation_p.E499K|APLP1_ENST00000589298.2_3'UTR NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 505 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGGCAGCAGCGAGGACAAGGG 0.582000 17 44 0 0 0.006122 0 0 EYS 346007 broad.mit.edu 37 6 66205124 66205124 + Missense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr6:66205124C>A ENST00000503581.1 - 4 717 c.180G>T c.(178-180)ttG>ttT p.L60F EYS_ENST00000393380.2_Missense_Mutation_p.L60F|EYS_ENST00000370618.3_Missense_Mutation_p.L60F|EYS_ENST00000370621.3_Missense_Mutation_p.L60F|EYS_ENST00000342421.5_Missense_Mutation_p.L60F|EYS_ENST00000370616.2_Missense_Mutation_p.L60F NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 60 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 TGTTTACACCCAAAAACCAGC 0.388000 15 75 1.3612e-06 1.49954e-06 0.003163 1 0 SLC16A6 9120 broad.mit.edu 37 17 66267356 66267356 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:66267356G>A ENST00000327268.4 - 6 1109 c.945C>T c.(943-945)atC>atT p.I315I ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.I315I NM_001174166.1 NP_001167637.1 O15403 MOT7_HUMAN solute carrier family 16, member 6 315 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2) 15 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) CCAGAGGAATGATGTACAAGG 0.423000 12 24 0 0 0.010729 0 0 RYR2 6262 broad.mit.edu 37 1 237802492 237802492 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:237802492G>T ENST00000366574.2 + 46 7423 c.7106G>T c.(7105-7107)aGt>aTt p.S2369I RYR2_ENST00000542537.1_Missense_Mutation_p.S2353I|RYR2_ENST00000360064.6_Missense_Mutation_p.S2367I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2369 4 X approximate repeats. 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 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) AGCGGATCCAGTAAAACACTG 0.418000 7 20 2.0095e-06 2.18704e-06 0.001984 1 0 TRIOBP 11078 broad.mit.edu 37 22 38119801 38119801 + Missense_Mutation SNP A A G rs71317064 TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr22:38119801A>G ENST00000406386.3 + 7 1493 c.1238A>G c.(1237-1239)aAa>aGa p.K413R RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 413 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.K413R(2) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GACAATCCCAAAGCCTCCAGA 0.582000 4 159 0 0 0.001168 0 0 NSD1 64324 broad.mit.edu 37 5 176709523 176709523 + Nonsense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:176709523C>T ENST00000439151.2 + 19 5995 c.5950C>T c.(5950-5952)Cga>Tga p.R1984* NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1715*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1715*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1881* NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1984 SET. R -> Q (in SOTOSS; loss of enzyme activity). negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) ATGCAGAGCTCGAATTCGCTA 0.373000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 38 28 0 0 0.005524 0 0 MARCH4 57574 broad.mit.edu 37 2 217124378 217124378 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:217124378G>A ENST00000273067.4 - 4 2656 c.890C>T c.(889-891)tCg>tTg p.S297L AC012513.6_ENST00000417481.1_RNA NM_020814.2 NP_065865.1 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase 297 Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) GCGGTACACCGAGGGTCCTTC 0.537000 23 25 0 0 0.003954 0 0 RCHY1 25898 broad.mit.edu 37 4 76407873 76407873 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr4:76407873G>C ENST00000324439.5 - 9 1059 c.661C>G c.(661-663)Ctc>Gtc p.L221V RCHY1_ENST00000512706.1_Missense_Mutation_p.L199V|RCHY1_ENST00000451788.1_3'UTR|RCHY1_ENST00000513257.1_Missense_Mutation_p.L212V|RCHY1_ENST00000380840.2_Missense_Mutation_p.L181V NM_001278536.1|NM_001278538.1|NM_001278539.1 NP_001265465.1|NP_001265467.1|NP_001265468.1 Q96PM5 ZN363_HUMAN ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase 221 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nuclear speck|ubiquitin ligase complex electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding p.L221I(1) large_intestine(2)|pancreas(1) 3 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TCATTGCAGAGAATCTGAAAA 0.318000 7 17 0 0 0.001984 0 0 CNTROB 116840 broad.mit.edu 37 17 7839728 7839728 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:7839728G>C ENST00000380262.3 + 5 1564 c.639G>C c.(637-639)gaG>gaC p.E213D CNTROB_ENST00000380255.3_Missense_Mutation_p.E213D|CNTROB_ENST00000563694.1_Missense_Mutation_p.E213D|CNTROB_ENST00000565740.1_Missense_Mutation_p.E213D NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 213 centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) GAGTGTTAGAGCTACAGCAAC 0.527000 38 98 0 0 0.006230 0 0 SELPLG 6404 broad.mit.edu 37 12 109017613 109017613 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:109017613C>T ENST00000388962.3 - 3 600 c.441G>A c.(439-441)acG>acA p.T147T SELPLG_ENST00000228463.6_Silent_p.T173T|SELPLG_ENST00000550948.1_Silent_p.T157T NM_003006.4 NP_002997.2 Q14242 SELPL_HUMAN selectin P ligand 157 12 X 10 AA tandem repeats. blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1) 12 CCTCCGTGGCCGTCAGTCGAG 0.637000 53 78 0 0 0.014410 0 0 NCBP1 4686 broad.mit.edu 37 9 100403139 100403139 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr9:100403139C>G ENST00000375147.3 + 2 354 c.98C>G c.(97-99)tCt>tGt p.S33C NM_002486.4 NP_002477.1 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 33 MIF4G. gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding p.S33F(1) NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4) 19 Acute lymphoblastic leukemia(62;0.158) CATTTGGAATCTTTAATATGT 0.358000 28 51 0 0 0.007291 0 0 SMARCA1 6594 broad.mit.edu 37 X 128599869 128599869 + Missense_Mutation SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chrX:128599869T>G ENST00000371122.4 - 22 2898 c.2769A>C c.(2767-2769)gaA>gaC p.E923D SMARCA1_ENST00000371123.1_Missense_Mutation_p.E911D|SMARCA1_ENST00000371121.3_Missense_Mutation_p.E911D NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 923 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 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 GAATTCTTGCTTCTCCACGTT 0.333000 29 21 0 0 0.007291 0 0 COL14A1 7373 broad.mit.edu 37 8 121256222 121256222 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr8:121256222C>T ENST00000297848.3 + 20 2724 c.2454C>T c.(2452-2454)gtC>gtT p.V818V COL14A1_ENST00000309791.4_Silent_p.V818V|COL14A1_ENST00000247781.3_Silent_p.V723V|COL14A1_ENST00000432943.2_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 818 Fibronectin type-III 6. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging 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) GCGAAGGCGTCAGCGTCTCCG 0.498000 15 153 0 0 0.003163 0 0 PCDHGC3 5098 broad.mit.edu 37 5 140857945 140857945 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:140857945G>A ENST00000308177.3 + 1 2366 c.2262G>A c.(2260-2262)ccG>ccA p.P754P PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATGTCGCCGCACCTTTACC 0.642000 OREG0016865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 37 0 0 0.014410 0 0 CTSA 5476 broad.mit.edu 37 20 44519983 44519983 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr20:44519983G>C ENST00000372484.3 + 1 301 c.19G>C c.(19-21)Gcg>Ccg p.A7P CTSA_ENST00000354880.5_Missense_Mutation_p.A7P|CTSA_ENST00000191018.5_5'UTR NM_000308.2|NM_001127695.1 NP_000299.2|NP_001121167.1 P10619 PPGB_HUMAN cathepsin A 0 intracellular protein transport|proteolysis endoplasmic reticulum|lysosome|nucleus enzyme activator activity|protein binding|serine-type carboxypeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) CAGTCCCCGGGCGCCTCCTGG 0.692000 4 2 0 0 0.001168 0 0 GPR98 84059 broad.mit.edu 37 5 90106737 90106737 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr5:90106737C>T ENST00000405460.2 + 74 15756 c.15660C>T c.(15658-15660)ttC>ttT p.F5220F GPR98_ENST00000425867.2_Silent_p.F881F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5220 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATGGAACATTCAGCCTTGGGC 0.463000 28 32 0 0 0.005443 0 0 TTC16 158248 broad.mit.edu 37 9 130482360 130482360 + Nonsense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr9:130482360C>T ENST00000373289.3 + 5 510 c.430C>T c.(430-432)Caa>Taa p.Q144* TTC16_ENST00000393748.4_5'UTR|PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 144 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 TCCCCAGGGACAATGCCTTTT 0.577000 45 51 0 0 0.010771 0 0 EPHA6 285220 broad.mit.edu 37 3 97439174 97439174 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr3:97439174G>C ENST00000389672.5 + 15 2892 c.2854G>C c.(2854-2856)Gat>Cat p.D952H NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 857 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CTCAGCAAGCGATGCATGGAG 0.463000 45 60 0 0 0.014410 0 0 FAT1 2195 broad.mit.edu 37 4 187538253 187538253 + Missense_Mutation SNP A A C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr4:187538253A>C ENST00000441802.2 - 11 9190 c.8981T>G c.(8980-8982)cTt>cGt p.L2994R NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2994 Cadherin 27. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CGTGATAGTAAGAAGGTAATT 0.413000 HNSCC(5;0.00058) 13 23 0 0 0.013537 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890016 23890016 + Nonsense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr15:23890016C>T ENST00000532292.1 - 1 1159 c.1065G>A c.(1063-1065)tgG>tgA p.W355* NM_019066.4 NP_061939.3 MAGE-like 2 p.W387L(1) breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) TGGGCCCTTCCCAGCCACTCA 0.672000 19 29 0 0 0.006122 0 0 DPYD 1806 broad.mit.edu 37 1 97915726 97915726 + Silent SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:97915726G>C ENST00000370192.3 - 14 1894 c.1794C>G c.(1792-1794)ccC>ccG p.P598P NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 598 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GGCCATACATGGGGCCAGAGG 0.448000 28 52 0 0 0.005443 0 0 ULBP2 80328 broad.mit.edu 37 6 150263229 150263229 + Silent SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr6:150263229C>A ENST00000367351.3 + 1 94 c.21C>A c.(19-21)acC>acA p.T7T NM_025217.2 NP_079493.1 Q9BZM5 N2DL2_HUMAN UL16 binding protein 2 7 antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response anchored to membrane|cell surface|extracellular space|MHC class I protein complex MHC class I receptor activity breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) CCGCCGCTACCAAGATCCTTC 0.607000 18 7 1.33834e-09 1.51121e-09 0.007413 1 0 ARHGEF7 8874 broad.mit.edu 37 13 111919973 111919973 + Silent SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr13:111919973T>C ENST00000375741.2 + 10 1342 c.1092T>C c.(1090-1092)taT>taC p.Y364Y ARHGEF7_ENST00000375739.2_Silent_p.Y314Y|ARHGEF7_ENST00000544132.1_Silent_p.L67L|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000317133.5_Silent_p.Y343Y|ARHGEF7_ENST00000426073.2_Silent_p.Y186Y|ARHGEF7_ENST00000478679.1_Silent_p.Y108Y|ARHGEF7_ENST00000370623.3_Silent_p.Y271Y|ARHGEF7_ENST00000375723.1_Silent_p.Y186Y|ARHGEF7_ENST00000218789.5_Silent_p.Y186Y|ARHGEF7_ENST00000375736.4_Silent_p.Y186Y|ARHGEF7_ENST00000375737.5_Silent_p.Y261Y NM_001113511.1|NM_145735.2 NP_001106983.1|NP_663788.1 Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 364 DH. apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) ACCTCACGTATTGTGCCAATC 0.532000 30 60 0 0 0.006320 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110461669 110461669 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr8:110461669T>A ENST00000378402.5 + 40 6232 c.6128T>A c.(6127-6129)cTt>cAt p.L2043H NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2043 IPT/TIG 13. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTGACAGGCTTAGATCTGAT 0.353000 HNSCC(38;0.096) 5 5 0 0 0.001984 0 0 FBXL19 54620 broad.mit.edu 37 16 30958233 30958233 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr16:30958233C>G ENST00000338343.4 + 10 2197 c.1810C>G c.(1810-1812)Cca>Gca p.P604A FBXL19_ENST00000380310.2_Missense_Mutation_p.P624A|FBXL19_ENST00000471231.2_Missense_Mutation_p.P312A|FBXL19_ENST00000565690.1_Missense_Mutation_p.P488A|FBXL19_ENST00000562319.1_Missense_Mutation_p.P604A Q6PCT2 FXL19_HUMAN F-box and leucine-rich repeat protein 19 624 DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 CCCCACGTCCCCACTCCGCGA 0.682000 5 14 0 0 0.001168 0 0 WDR66 144406 broad.mit.edu 37 12 122361573 122361573 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:122361573G>A ENST00000288912.4 + 3 1278 c.424G>A c.(424-426)Gat>Aat p.D142N WDR66_ENST00000397454.2_Missense_Mutation_p.D142N NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 142 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) ACAATTGGAGGATGCAGAAAC 0.363000 23 61 0 0 0.003330 0 0 SORL1 6653 broad.mit.edu 37 11 121444948 121444948 + Splice_Site SNP A A T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr11:121444948A>T ENST00000260197.7 + 24 3466 c.e24-1 SORL1_ENST00000525532.1_Splice_Site NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) ATCCCATTTTAGCTACCACCA 0.418000 52 107 0 0 0.014410 0 0 PLEKHH3 79990 broad.mit.edu 37 17 40823110 40823110 + Silent SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:40823110C>G ENST00000293349.6 - 9 1753 c.1323G>C c.(1321-1323)cgG>cgC p.R441R PLEKHH3_ENST00000591022.1_Silent_p.R441R|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000412503.1_Silent_p.R441R Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 441 FERM. signal transduction cytoskeleton endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2) 13 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) CGTTGCGGCTCCGGGCCAAGC 0.667000 33 56 0 0 0.013726 0 0 UBE4A 9354 broad.mit.edu 37 11 118267059 118267059 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr11:118267059C>T ENST00000252108.3 + 20 3236 c.3105C>T c.(3103-3105)ccC>ccT p.P1035P UBE4A_ENST00000431736.2_Silent_p.P1042P|UBE4A_ENST00000545354.1_Silent_p.P507P NM_001204077.1|NM_004788.3 NP_001191006.1|NP_004779.2 Q14139 UBE4A_HUMAN ubiquitination factor E4A 1035 U-box. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) ACCGTAGTCCCCTCACCATGG 0.423000 22 41 0 0 0.003330 0 0 GRAP2 9402 broad.mit.edu 37 22 40364132 40364132 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr22:40364132G>T ENST00000344138.4 + 6 809 c.546G>T c.(544-546)atG>atT p.M182I GRAP2_ENST00000399090.2_Missense_Mutation_p.M69I|GRAP2_ENST00000540310.1_Missense_Mutation_p.M116I|GRAP2_ENST00000407075.3_Missense_Mutation_p.M182I|GRAP2_ENST00000544756.1_Missense_Mutation_p.M110I|GRAP2_ENST00000543252.1_Missense_Mutation_p.M142I NM_004810.2 NP_004801.1 O75791 GRAP2_HUMAN GRB2-related adaptor protein 2 182 cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway cytosol SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 GACCTTCGATGAACCGGAAGC 0.657000 8 10 0.00448238 0.00470824 0.004482 1 0 KRT78 196374 broad.mit.edu 37 12 53241878 53241878 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr12:53241878C>T ENST00000359499.4 - 2 93 c.82G>A c.(82-84)Gtc>Atc p.V28I KRT78_ENST00000304620.4_Missense_Mutation_p.V138I Q8N1N4 K2C78_HUMAN keratin 78 138 Gly-rich.|Head. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 GTCTCCAGGACCTTGTTCTGC 0.597000 11 32 0 0 0.008291 0 0 OR5D16 390144 broad.mit.edu 37 11 55606573 55606573 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr11:55606573C>G ENST00000378396.1 + 1 346 c.346C>G c.(346-348)Cta>Gta p.L116V NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) TGAATTAATTCTATTTGCGGT 0.438000 47 84 0 0 0.011902 0 0 MMP21 118856 broad.mit.edu 37 10 127462419 127462419 + Silent SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr10:127462419G>T ENST00000368808.3 - 2 677 c.678C>A c.(676-678)atC>atA p.I226I NM_147191.1 NP_671724.1 Q8N119 MMP21_HUMAN matrix metallopeptidase 21 226 proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 16 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AGCCCAGCTTGATGTCGACCG 0.726000 23 40 1.75199e-13 2.02901e-13 0.007291 1 0 MYO16 23026 broad.mit.edu 37 13 109475526 109475526 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr13:109475526T>A ENST00000356711.2 + 9 1057 c.931T>A c.(931-933)Tgg>Agg p.W311R MYO16_ENST00000357550.2_Missense_Mutation_p.W311R|MYO16_ENST00000251041.5_Missense_Mutation_p.W311R NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 311 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CGAAATTGCCTGGGAAGAAAA 0.393000 48 141 0 0 0.014410 0 0 HIST1H3H 8357 broad.mit.edu 37 6 27778004 27778004 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr6:27778004G>A ENST00000369163.2 + 1 163 c.153G>A c.(151-153)gaG>gaA p.E51E NM_003536.2 NP_003527.1 P68431 H31_HUMAN histone cluster 1, H3h 51 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3) 10 CTCTCCGCGAGATTCGCCGCT 0.627000 29 53 0 0 0.006320 0 0 DOCK9 23348 broad.mit.edu 37 13 99566619 99566619 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr13:99566619C>T ENST00000376460.1 - 9 1003 c.923G>A c.(922-924)gGt>gAt p.G308D DOCK9_ENST00000442173.1_Missense_Mutation_p.G308D|DOCK9_ENST00000339416.2_Missense_Mutation_p.G309D|DOCK9_ENST00000448493.2_Missense_Mutation_p.G320D NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 309 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TAAACCGGAACCAGAACCTTC 0.393000 5 13 0 0 0.000602 0 0 PRDM14 63978 broad.mit.edu 37 8 70978695 70978695 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr8:70978695C>T ENST00000276594.2 - 5 1159 c.958G>A c.(958-960)Ggt>Agt p.G320S NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 320 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) TTCCCCGTACCTCCTTTTCCA 0.408000 36 50 0 0 0.006230 0 0 C1orf168 199920 broad.mit.edu 37 1 57257988 57257988 + Silent SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:57257988G>T ENST00000343433.6 - 2 578 c.498C>A c.(496-498)gcC>gcA p.A166A C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 166 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 CCAGATGGATGGCCTTACTTC 0.483000 37 62 1.836e-18 2.24125e-18 0.003755 1 0 OTOF 9381 broad.mit.edu 37 2 26702480 26702480 + Silent SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr2:26702480G>T ENST00000272371.2 - 17 2080 c.1954C>A c.(1954-1956)Cgg>Agg p.R652R OTOF_ENST00000403946.3_Silent_p.R652R NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 652 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCCGAGGCCGCTGGGGCCGG 0.642000 22 38 2.44723e-14 2.88348e-14 0.004656 1 0 SMG7 9887 broad.mit.edu 37 1 183518407 183518407 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:183518407G>T ENST00000367537.3 + 20 3101 c.2906G>T c.(2905-2907)gGa>gTa p.G969V SMG7_ENST00000515829.2_Missense_Mutation_p.G890V|SMG7_ENST00000507469.1_Missense_Mutation_p.G940V|SMG7_ENST00000456731.2_Missense_Mutation_p.G848V|SMG7_ENST00000508461.1_Missense_Mutation_p.G944V|SMG7_ENST00000347615.2_Missense_Mutation_p.G936V Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 936 Ser-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 TCCCTCACCGGATTCTCTCTC 0.403000 18 26 0.000132079 0.000139818 0.008871 1 0 GABRA3 2556 broad.mit.edu 37 X 151336735 151336735 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chrX:151336735C>T ENST00000370314.4 - 10 1682 c.1444G>A c.(1444-1446)Gag>Aag p.E482K RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000370311.1_Missense_Mutation_p.E482K|GABRA3_ENST00000535043.1_Missense_Mutation_p.E482K NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 482 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATAGCTGACTCCCGGTTGACA 0.498000 35 13 0 0 0.003271 0 0 LAPTM5 7805 broad.mit.edu 37 1 31210496 31210496 + Missense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr1:31210496C>A ENST00000294507.3 - 6 635 c.561G>T c.(559-561)atG>atT p.M187I NM_006762.2 NP_006753.1 Q13571 LAPM5_HUMAN lysosomal protein transmembrane 5 187 transport integral to plasma membrane|lysosomal membrane p.M187I(1) large_intestine(2)|lung(7)|skin(1) 10 Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192) STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649) AGATGATCATCATCTTGATGA 0.522000 23 45 7.07758e-08 7.93374e-08 0.004656 1 0 KRT25 147183 broad.mit.edu 37 17 38910653 38910653 + Missense_Mutation SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr17:38910653T>G ENST00000312150.4 - 2 557 c.497A>C c.(496-498)gAt>gCt p.D166A NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 166 Coil 1B.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) TCTGAAATCATCAGCTGTAAG 0.383000 29 67 0 0 0.005443 0 0 ZNF134 7693 broad.mit.edu 37 19 58132578 58132578 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr19:58132578G>T ENST00000396161.5 + 3 1401 c.1091G>T c.(1090-1092)aGg>aTg p.R364M NM_003435.3 NP_003426.3 P52741 ZN134_HUMAN zinc finger protein 134 364 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1) 11 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) GCACACCAGAGGGTTCACACT 0.438000 39 36 2.51541e-25 3.1218e-25 0.004878 1 0 DNAH8 1769 broad.mit.edu 37 6 38885712 38885712 + Silent SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr6:38885712A>G ENST00000359357.3 + 68 9923 c.9669A>G c.(9667-9669)gcA>gcG p.A3223A DNAH8_ENST00000449981.2_Silent_p.A3440A|DNAH8_ENST00000441566.1_Silent_p.A3187A dynein, axonemal, heavy chain 8 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 TGATGAGTGCAACAGGATTCC 0.333000 3 43 0 0 0.009096 0 0 CSPG4 1464 broad.mit.edu 37 15 75983101 75983101 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr15:75983101G>A ENST00000308508.5 - 3 397 c.305C>T c.(304-306)aCg>aTg p.T102M NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 102 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity p.T102M(1) breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 ACTCAGCAGCGTCTCTGCTGG 0.582000 29 66 0 0 0.003271 0 0 OS9 10956 broad.mit.edu 37 12 58088661 58088661 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr12:58088661G>A ENST00000315970.7 + 2 332 c.291G>A c.(289-291)ggG>ggA p.G97G OS9_ENST00000552285.1_Silent_p.G97G|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000551035.1_Silent_p.G97G|OS9_ENST00000413095.2_Silent_p.G97G|OS9_ENST00000389142.5_Silent_p.G97G|OS9_ENST00000389146.6_Silent_p.G97G|OS9_ENST00000439210.2_Intron|OS9_ENST00000257966.8_Silent_p.G97G|OS9_ENST00000435406.2_Silent_p.G97G NM_001017958.2|NM_006812.3 NP_001017958.1|NP_006803.1 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum lectin 97 ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 21 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) AAGGGCCTGGGATCCCTGAGT 0.522000 20 41 0 0 0.008871 0 0 HNF1A 6927 broad.mit.edu 37 12 121434487 121434487 + Silent SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr12:121434487T>A ENST00000257555.6 + 6 1477 c.1251T>A c.(1249-1251)ggT>ggA p.G417G HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Silent_p.G417G|HNF1A_ENST00000543427.1_Silent_p.G300G|HNF1A_ENST00000402929.1_Silent_p.G417G|HNF1A_ENST00000400024.2_Silent_p.G417G|HNF1A_ENST00000541395.1_Silent_p.G417G P20823 HNF1A_HUMAN HNF1 homeobox A 417 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TCGGGCCTGGTGAGCCTGCCT 0.632000 Hepatic Adenoma, Familial Clustering of 19 32 0 0 0.014323 0 0 CR1 1378 broad.mit.edu 37 1 207760880 207760880 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr1:207760880G>A ENST00000367049.4 + 34 5680 c.5680G>A c.(5680-5682)Gtc>Atc p.V1894I CR1_ENST00000367051.1_Missense_Mutation_p.V1444I|CR1_ENST00000367052.1_Missense_Mutation_p.V1444I|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.V1444I|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.V1444I NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1444 Sushi 29. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity 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 AGAAAACTTGGTCTGGTCAAG 0.453000 45 81 0 0 0.014410 0 0 LINC00521 256369 broad.mit.edu 37 14 94464411 94464411 + RNA SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr14:94464411G>A ENST00000444118.1 + 0 91 NR_024182.1 GTCCCTTTTCGGTCTGTCTTC 0.572000 6 18 0 0 0.001984 0 0 SLIT2 9353 broad.mit.edu 37 4 20619185 20619185 + Missense_Mutation SNP G G T rs111791287 TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr4:20619185G>T ENST00000504154.1 + 36 4512 c.4260G>T c.(4258-4260)aaG>aaT p.K1420N SLIT2_ENST00000273739.5_Missense_Mutation_p.K1433N|SLIT2_ENST00000503823.1_Missense_Mutation_p.K1412N|SLIT2_ENST00000503837.1_Missense_Mutation_p.K1416N NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1420 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 AGGCGATCAAGTGCAAGCATG 0.557000 13 15 5.50884e-06 5.98225e-06 0.013537 1 0 MC5R 4161 broad.mit.edu 37 18 13826439 13826439 + Silent SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr18:13826439C>A ENST00000324750.3 + 1 897 c.675C>A c.(673-675)gcC>gcA p.A225A NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 225 ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 TGCCCGGGGCCAGCTCTGCGC 0.622000 87 179 3.56499e-28 4.44425e-28 0.014410 1 0 BAGE2 85319 broad.mit.edu 37 21 11058238 11058238 + RNA SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr21:11058238G>A ENST00000470054.1 - 0 409 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTCGGCTCCTGCAGCACAAGG 0.433000 14 83 0 0 0.001855 0 0 SYDE1 85360 broad.mit.edu 37 19 15222125 15222125 + Splice_Site SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr19:15222125T>C ENST00000600252.1 + 2 1905 c.261_splice c.e2-1 p.V88_splice SYDE1_ENST00000600440.1_Splice_Site_p.V364_splice|SYDE1_ENST00000342784.2_Splice_Site_p.V431_splice Q6ZW31 SYDE1_HUMAN synapse defective 1, Rho GTPase, homolog 1 (C. elegans) 431 Pro-rich. activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1) 17 CACCCCCAGGTAGTGGGACTG 0.587000 33 22 0 0 0.003755 0 0 SLAMF6 114836 broad.mit.edu 37 1 160466073 160466073 + Missense_Mutation SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr1:160466073T>G ENST00000368059.3 - 2 229 c.160A>C c.(160-162)Act>Cct p.T54P SLAMF6_ENST00000368057.3_Missense_Mutation_p.T54P|SLAMF6_ENST00000368055.1_Intron NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4 NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1 Q96DU3 SLAF6_HUMAN SLAM family member 6 54 integral to membrane|plasma membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) AAAAGCCAAGTGATGAAGTTG 0.463000 48 135 0 0 0.014410 0 0 WDR17 116966 broad.mit.edu 37 4 177077229 177077229 + Splice_Site SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr4:177077229G>T ENST00000393643.2 + 18 2712 c.e18-1 WDR17_ENST00000280190.4_Splice_Site|WDR17_ENST00000508596.1_Splice_Site|WDR17_ENST00000507824.2_Splice_Site NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 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;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TTCTATTGTAGTGGGACAAAG 0.368000 24 69 2.27525e-19 2.8112e-19 0.003954 1 0 FAM184A 79632 broad.mit.edu 37 6 119345399 119345399 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr6:119345399C>G ENST00000338891.7 - 2 1182 c.739G>C c.(739-741)Gat>Cat p.D247H FAM184A_ENST00000368475.4_Missense_Mutation_p.D127H|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.D127H|FAM184A_ENST00000522284.1_Missense_Mutation_p.D127H|FAM184A_ENST00000521531.1_Missense_Mutation_p.D247H NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 247 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 CCTTCATAATCCTCAATTAGT 0.423000 16 39 0 0 0.003163 0 0 FKBP11 51303 broad.mit.edu 37 12 49319149 49319149 + Silent SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr12:49319149C>A ENST00000550765.1 - 1 461 c.63G>T c.(61-63)gcG>gcT p.A21A FKBP11_ENST00000453172.2_Silent_p.A21A|AC073610.5_ENST00000537495.1_Intron|CCDC65_ENST00000266984.5_Intron|FKBP11_ENST00000552878.1_Silent_p.A21A|ARF3_ENST00000398092.4_Intron NM_016594.2 NP_057678.1 Q9NYL4 FKB11_HUMAN FK506 binding protein 11, 19 kDa 21 protein folding integral to membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity kidney(1)|large_intestine(3)|lung(1) 5 CCCGGCACACCGCCGCACTGa 0.697000 3 25 0.00909568 0.00954188 0.009096 1 0 PTPRB 5787 broad.mit.edu 37 12 71002999 71002999 + Missense_Mutation SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr12:71002999T>G ENST00000334414.6 - 4 873 c.829A>C c.(829-831)Agc>Cgc p.S277R PTPRB_ENST00000451516.2_Missense_Mutation_p.S59R|PTPRB_ENST00000261266.5_Missense_Mutation_p.S59R|PTPRB_ENST00000551525.1_Missense_Mutation_p.S276R|PTPRB_ENST00000550857.1_Missense_Mutation_p.S59R|PTPRB_ENST00000538708.1_Missense_Mutation_p.S59R|PTPRB_ENST00000550358.1_Missense_Mutation_p.S277R|PTPRB_ENST00000538174.2_5'UTR NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 59 Fibronectin type-III 3. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity 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) GTGTCACTGCTATAGATGAGG 0.498000 3 67 0 0 0.004672 0 0 OR1J2 26740 broad.mit.edu 37 9 125273891 125273891 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr9:125273891G>A ENST00000335302.5 + 1 811 c.811G>A c.(811-813)Gat>Aat p.D271N NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 TATTGACAAGGATGTCATTGT 0.473000 62 126 0 0 0.014410 0 0 SPECC1 92521 broad.mit.edu 37 17 20108048 20108048 + Missense_Mutation SNP T T C rs149577639 by1000genomes TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr17:20108048T>C ENST00000395530.2 + 2 651 c.443T>C c.(442-444)cTt>cCt p.L148P SPECC1_ENST00000395522.2_Missense_Mutation_p.L148P|SPECC1_ENST00000536879.1_Intron|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Missense_Mutation_p.L229P|SPECC1_ENST00000395525.3_Missense_Mutation_p.L148P|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395529.3_Missense_Mutation_p.L229P|SPECC1_ENST00000261503.5_Missense_Mutation_p.L229P NM_001033555.2 NP_001028727.1 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 229 nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) ATAAGAGCTCTTGAGGAGAAG 0.478000 33 153 0 0 0.012213 0 0 ZNF763 284390 broad.mit.edu 37 19 12088200 12088200 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr19:12088200G>T ENST00000343949.5 + 3 309 c.154G>T c.(154-156)Gac>Tac p.D52Y ZNF763_ENST00000358987.3_Missense_Mutation_p.D49Y|ZNF763_ENST00000545530.1_Intron|ZNF763_ENST00000590798.1_Missense_Mutation_p.D69Y|ZNF763_ENST00000592625.1_Intron|ZNF763_ENST00000538752.1_Missense_Mutation_p.D69Y|ZNF763_ENST00000591944.1_Intron NM_001012753.1 NP_001012771.1 zinc finger protein 763 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9) 15 AAAGTGGAAAGACCAGAACAT 0.333000 18 32 2.35188e-11 2.71296e-11 0.006122 1 0 PRKCH 5583 broad.mit.edu 37 14 61917604 61917604 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr14:61917604C>T ENST00000332981.5 + 6 1132 c.747C>T c.(745-747)agC>agT p.S249S PRKCH_ENST00000555082.1_Silent_p.S88S NM_006255.3 NP_006246.2 P24723 KPCL_HUMAN protein kinase C, eta 249 intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) ACAAGTTCAGCATCCACAACT 0.438000 23 38 0 0 0.003330 0 0 PDE10A 10846 broad.mit.edu 37 6 165862443 165862443 + Silent SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr6:165862443T>A ENST00000366882.1 - 6 493 c.339A>T c.(337-339)gcA>gcT p.A113A PDE10A_ENST00000354448.4_Silent_p.A113A|PDE10A_ENST00000539869.2_Silent_p.A123A Q9Y233 PDE10_HUMAN phosphodiesterase 10A 113 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) GGAAATACAGTGCAAATCCAT 0.368000 23 38 0 0 0.003330 0 0 ZNF571 51276 broad.mit.edu 37 19 38057174 38057174 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr19:38057174C>T ENST00000328550.2 - 4 255 c.156G>A c.(154-156)gtG>gtA p.V52V ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000358744.3_Silent_p.V52V|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000451802.2_Silent_p.V52V|ZNF571_ENST00000593133.1_Silent_p.V52V|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA Q7Z3V5 ZN571_HUMAN zinc finger protein 571 52 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 25 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACTTTTTGGTCACACAACTGG 0.338000 16 51 0 0 0.004007 0 0 ITGA8 8516 broad.mit.edu 37 10 15726024 15726024 + Nonsense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr10:15726024C>A ENST00000378076.3 - 4 900 c.547G>T c.(547-549)Gag>Tag p.E183* NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 183 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 GGAGAGAACTCGGCATAGGCG 0.458000 16 42 3.45872e-05 3.72683e-05 0.004007 1 0 CHRM2 1129 broad.mit.edu 37 7 136700385 136700385 + Missense_Mutation SNP A A G rs142006633 byFrequency TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr7:136700385A>G ENST00000445907.2 + 3 1301 c.773A>G c.(772-774)aAc>aGc p.N258S AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.N258S|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.N258S|CHRM2_ENST00000401861.1_Missense_Mutation_p.N258S|CHRM2_ENST00000397608.3_Missense_Mutation_p.N258S|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.N258S NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 258 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CTGGAGCACAACAAAATCCAG 0.512000 10 19 0 0 0.010729 0 0 RNF44 22838 broad.mit.edu 37 5 175956543 175956543 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr5:175956543G>A ENST00000274811.4 - 9 1641 c.1117C>T c.(1117-1119)Cat>Tat p.H373Y RNF44_ENST00000537487.1_Missense_Mutation_p.H292Y NM_014901.4 NP_055716.1 Q7L0R7 RNF44_HUMAN ring finger protein 44 373 zinc ion binding endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1) 8 all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCGACTGATGGCTGTCCGGG 0.647000 22 25 0 0 0.002780 0 0 TOX4 9878 broad.mit.edu 37 14 21955828 21955828 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr14:21955828G>A ENST00000405508.1 + 4 570 c.294G>A c.(292-294)ggG>ggA p.G98G TOX4_ENST00000494242.1_3'UTR|TOX4_ENST00000448790.2_Silent_p.G75G|TOX4_ENST00000262709.3_Silent_p.G98G O94842 TOX4_HUMAN TOX high mobility group box family member 4 98 chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) AGGGCGGGGGGCTCCTGAGTG 0.557000 35 55 0 0 0.013726 0 0 RNF17 56163 broad.mit.edu 37 13 25448319 25448319 + Missense_Mutation SNP A A T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr13:25448319A>T ENST00000255324.5 + 33 4567 c.4515A>T c.(4513-4515)gaA>gaT p.E1505D RNF17_ENST00000381921.1_Missense_Mutation_p.E1463D|RNF17_ENST00000339524.3_Missense_Mutation_p.E515D NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1505 Tudor 4. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) CCATTAAAGAATTTAATCCTT 0.328000 31 36 0 0 0.010818 0 0 SLITRK5 26050 broad.mit.edu 37 13 88329860 88329860 + Silent SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr13:88329860C>A ENST00000325089.6 + 2 2436 c.2217C>A c.(2215-2217)ccC>ccA p.P739P SLITRK5_ENST00000400028.3_Silent_p.P498P NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 739 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) CCGCGCTGCCCAAGGTGAAGA 0.667000 37 101 1.90571e-15 2.28356e-15 0.004289 1 0 ATP2B3 492 broad.mit.edu 37 X 152825277 152825277 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chrX:152825277G>A ENST00000370186.1 + 16 3000 c.2674G>A c.(2674-2676)Gag>Aag p.E892K ATP2B3_ENST00000393842.1_Missense_Mutation_p.E892K|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E892K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E906K|ATP2B3_ENST00000349466.2_Missense_Mutation_p.E906K|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E906K Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 906 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCCACCCACAGAGTCGCTGCT 0.597000 35 11 0 0 0.004878 0 0 MYCBP2 23077 broad.mit.edu 37 13 77632376 77632376 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr13:77632376G>A ENST00000407578.2 - 78 13572 c.13306C>T c.(13306-13308)Ctc>Ttc p.L4436F MYCBP2_ENST00000544440.2_Missense_Mutation_p.L4398F|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L4398F NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 4398 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GCTGCCGAGAGCGCTTCGGTG 0.458000 49 105 0 0 0.014410 0 0 ZNF678 339500 broad.mit.edu 37 1 227842404 227842404 + Silent SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr1:227842404A>G ENST00000343776.4 + 4 798 c.453A>G c.(451-453)aaA>aaG p.K151K ZNF678_ENST00000397097.3_Silent_p.K206K|ZNF678_ENST00000498759.1_Intron F5GXA7 F5GXA7_HUMAN zinc finger protein 678 206 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) CTGGAGAGAAACCCTACAAAT 0.353000 26 78 0 0 0.004656 0 0 TMEM87A 25963 broad.mit.edu 37 15 42560198 42560198 + Translation_Start_Site SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr15:42560198T>C ENST00000568432.1 - 0 283 TMEM87A_ENST00000448392.1_Missense_Mutation_p.I19V|TMEM87A_ENST00000389834.4_Missense_Mutation_p.I80V|TMEM87A_ENST00000307216.6_Missense_Mutation_p.I80V Q8NBN3 TM87A_HUMAN transmembrane protein 87A integral to membrane breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;1.03e-06) TACCAGGTTATATTCAAAGAC 0.323000 25 46 0 0 0.004656 0 0 EARS2 124454 broad.mit.edu 37 16 23563530 23563530 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr16:23563530C>G ENST00000449606.1 - 2 266 c.235G>C c.(235-237)Gat>Cat p.D79H EARS2_ENST00000563459.1_Missense_Mutation_p.D79H|EARS2_ENST00000563232.1_Missense_Mutation_p.D79H|EARS2_ENST00000564501.1_Missense_Mutation_p.D79H NM_001083614.1 NP_001077083.1 Q5JPH6 SYEM_HUMAN glutamyl-tRNA synthetase 2, mitochondrial 79 glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|glutamate-tRNA ligase activity|RNA binding central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) CGAGTCTGATCTGTGTCCTCT 0.547000 35 71 0 0 0.004289 0 0 LZTS3 9762 broad.mit.edu 37 20 3147717 3147717 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr20:3147717C>T ENST00000329152.3 - 1 1490 c.93G>A c.(91-93)ccG>ccA p.P31P LZTS3_ENST00000360342.3_Silent_p.P31P|LZTS3_ENST00000337576.5_Silent_p.P31P NM_014731.2 NP_055546.1 GGCGGGGGTCCGGGGGTCCAA 0.706000 9 10 0 0 0.008291 0 0 NARS 4677 broad.mit.edu 37 18 55283091 55283091 + Missense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr18:55283091C>A ENST00000256854.5 - 3 665 c.210G>T c.(208-210)tgG>tgT p.W70C NARS_ENST00000423481.2_5'UTR NM_004539.3 NP_004530.1 O43776 SYNC_HUMAN asparaginyl-tRNA synthetase 70 asparaginyl-tRNA aminoacylation cytosol|soluble fraction asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1) 20 Colorectal(73;0.227) L-Asparagine(DB00174) GTTCCCTATGCCACATCTTTT 0.388000 22 55 1.87028e-06 2.05509e-06 0.012319 1 0 MAZ 4150 broad.mit.edu 37 16 29820025 29820025 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr16:29820025C>G ENST00000219782.6 + 4 1348 c.1242C>G c.(1240-1242)agC>agG p.S414R AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000545521.1_Missense_Mutation_p.S391R|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000568282.1_Missense_Mutation_p.S15R|MAZ_ENST00000322945.6_Missense_Mutation_p.S414R|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000569978.1_Missense_Mutation_p.S15R|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000562337.1_Missense_Mutation_p.S109R|MAZ_ENST00000568544.1_Missense_Mutation_p.S15R NM_001042539.1 NP_001036004.1 P56270 MAZ_HUMAN MYC-associated zinc finger protein (purine-binding transcription factor) 414 regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 AGGTGCACAGCCAGGGTCCTC 0.612000 12 18 0 0 0.001855 0 0 CTAGE5 4253 broad.mit.edu 37 14 39764138 39764138 + Missense_Mutation SNP A A G rs150627486 byFrequency TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr14:39764138A>G ENST00000553728.1 + 12 2395 c.2182A>G c.(2182-2184)Acc>Gcc p.T728A CTAGE5_ENST00000396165.4_Missense_Mutation_p.T164A|CTAGE5_ENST00000341502.5_Missense_Mutation_p.T193A|CTAGE5_ENST00000341749.3_Missense_Mutation_p.T181A|CTAGE5_ENST00000348007.3_Missense_Mutation_p.T193A|CTAGE5_ENST00000280083.3_Missense_Mutation_p.T193A|CTAGE5_ENST00000553352.1_Missense_Mutation_p.T164A|CTAGE5_ENST00000557038.1_Missense_Mutation_p.T113A|CTAGE5_ENST00000556148.1_Missense_Mutation_p.T118A|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.T164A|CTAGE5_ENST00000396158.2_Missense_Mutation_p.T198A GGCCAAAATGACCTTCAAGAT 0.313000 4 88 0 0 0.000602 0 0 SYVN1 84447 broad.mit.edu 37 11 64897499 64897499 + Missense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr11:64897499C>A ENST00000526060.1 - 13 1572 c.1380G>T c.(1378-1380)atG>atT p.M460I SYVN1_ENST00000307289.6_Missense_Mutation_p.M409I|SYVN1_ENST00000377190.3_Missense_Mutation_p.M461I|SYVN1_ENST00000294256.8_Missense_Mutation_p.M460I Q86TM6 SYVN1_HUMAN synovial apoptosis inhibitor 1, synoviolin 461 Pro-rich. ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 GGGGCATACCCATCCAGGGAG 0.647000 7 14 5.18039e-06 5.64764e-06 0.003080 1 0 MYO1A 4640 broad.mit.edu 37 12 57431381 57431381 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr12:57431381C>G ENST00000442789.2 - 20 2293 c.2006G>C c.(2005-2007)gGg>gCg p.G669A MYO1A_ENST00000300119.3_Missense_Mutation_p.G669A|MYO1A_ENST00000544473.1_Missense_Mutation_p.G507A NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 669 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 GGCCAGCTCCCCCGAGGACAT 0.512000 107 229 0 0 0.014410 0 0 NIPBL 25836 broad.mit.edu 37 5 37048756 37048756 + Missense_Mutation SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr5:37048756A>G ENST00000282516.8 + 39 7241 c.6742A>G c.(6742-6744)Atg>Gtg p.M2248V NIPBL_ENST00000448238.2_Missense_Mutation_p.M2248V NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2248 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) AGATACACGTATGCAGCAGGC 0.269000 9 24 0 0 0.008291 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125686264 125686264 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chrX:125686264G>T ENST00000371126.1 - 1 570 c.328C>A c.(328-330)Cag>Aag p.Q110K NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 110 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 CACACCACCTGCCTGGAGTTC 0.637000 36 17 4.65686e-17 5.65331e-17 0.003755 1 0 DRD5 1816 broad.mit.edu 37 4 9784899 9784899 + Missense_Mutation SNP A A C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr4:9784899A>C ENST00000304374.2 + 1 1642 c.1246A>C c.(1246-1248)Aac>Cac p.N416H NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 416 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CATGATGCCCAACGCCGTTAC 0.567000 19 48 0 0 0.008871 0 0 ZFAND2A 90637 broad.mit.edu 37 7 1197827 1197827 + Missense_Mutation SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr7:1197827T>G ENST00000401903.1 - 2 281 c.22A>C c.(22-24)Aag>Cag p.K8Q ZFAND2A_ENST00000316495.3_Missense_Mutation_p.K8Q Q8N6M9 ZFN2A_HUMAN zinc finger, AN1-type domain 2A 8 cytoplasm|nucleus zinc ion binding lung(2)|ovary(1) 3 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15) GAACAATGCTTCCCCAAATCA 0.408000 48 230 0 0 0.014410 0 0 SLC30A1 7779 broad.mit.edu 37 1 211751730 211751730 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr1:211751730G>A ENST00000367001.4 - 1 354 c.225C>T c.(223-225)atC>atT p.I75I NM_021194.2 NP_067017.2 Q9Y6M5 ZNT1_HUMAN solute carrier family 30 (zinc transporter), member 1 75 cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import integral to membrane|T-tubule calcium channel inhibitor activity|zinc ion transmembrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1) 11 OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978) CCTCGGCTCGGATCCAGCCGA 0.662000 16 20 0 0 0.004990 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33111164 33111164 + Translation_Start_Site SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr13:33111164T>A ENST00000446957.2 - 1 0 c.1A>T c.(1-3)Atg>Ttg p.M1L N4BP2L2_ENST00000399396.3_Splice_Site_p.M1_splice|N4BP2L2_ENST00000267068.3_Splice_Site_p.M1_splice|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000504114.1_Intron Q92802 N42L2_HUMAN NEDD4 binding protein 2-like 2 1 kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) CCATAAGACATCTGAGAAATA 0.289000 10 14 0 0 0.006214 0 0 ARMC4 55130 broad.mit.edu 37 10 28196653 28196653 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr10:28196653G>A ENST00000305242.5 - 17 2641 c.2549C>T c.(2548-2550)cCt>cTt p.P850L ARMC4_ENST00000537576.1_Missense_Mutation_p.P542L|ARMC4_ENST00000545014.1_Missense_Mutation_p.P375L NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 850 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GTCTGGGTGAGGATTTTTCAG 0.443000 18 40 0 0 0.007413 0 0 NBEA 26960 broad.mit.edu 37 13 35619137 35619137 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr13:35619137G>A ENST00000400445.3 + 3 1114 c.580G>A c.(580-582)Gag>Aag p.E194K NBEA_ENST00000379939.2_Missense_Mutation_p.E194K|NBEA_ENST00000310336.4_Missense_Mutation_p.E194K|NBEA_ENST00000540320.1_Missense_Mutation_p.E194K NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 194 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CACTGTCAAGGAGTTGAAGCT 0.418000 9 14 0 0 0.006214 0 0 PYCR1 5831 broad.mit.edu 37 17 79892538 79892538 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr17:79892538C>T ENST00000337943.5 - 5 1066 c.624G>A c.(622-624)caG>caA p.Q208Q PYCR1_ENST00000402252.2_Silent_p.Q235Q|PYCR1_ENST00000329875.8_Silent_p.Q208Q|PYCR1_ENST00000403172.4_Intron|PYCR1_ENST00000577756.1_Silent_p.Q208Q NM_153824.1 NP_722546.1 P32322 P5CR1_HUMAN pyrroline-5-carboxylate reductase 1 208 cellular response to oxidative stress|proline biosynthetic process mitochondrial matrix binding|pyrroline-5-carboxylate reductase activity endometrium(2)|kidney(1)|lung(1)|prostate(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) L-Proline(DB00172)|NADH(DB00157) CCAGGAGGGCCTGGGCCCCGA 0.662000 3 5 0 0 0.004672 0 0 ING5 84289 broad.mit.edu 37 2 242650884 242650884 + Silent SNP C C T rs142180451 byFrequency TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr2:242650884C>T ENST00000313552.6 + 4 395 c.369C>T c.(367-369)tcC>tcT p.S123S ING5_ENST00000482774.1_3'UTR|ING5_ENST00000406941.1_Silent_p.S123S NM_032329.4 NP_115705.2 Q8WYH8 ING5_HUMAN inhibitor of growth family, member 5 123 DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding large_intestine(1)|lung(1)|skin(1) 3 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) TTGAAAGCTCCGGAGGGCGAG 0.393000 44 94 0 0 0.007835 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21467564 21467564 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr12:21467564C>G ENST00000307378.6 - 5 974 c.254G>C c.(253-255)aGa>aCa p.R85T SLCO1A2_ENST00000452078.1_Missense_Mutation_p.R85T|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.R83T|SLCO1A2_ENST00000458504.1_Intron|SLCO1A2_ENST00000473830.1_Intron NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 85 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 CATTATAGGTCTATGCAGTTT 0.328000 19 41 0 0 0.008871 0 0 PSG11 5680 broad.mit.edu 37 19 43529018 43529018 + Silent SNP G G A rs138426313 TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr19:43529018G>A ENST00000401740.1 - 2 358 c.255C>T c.(253-255)gaC>gaT p.D85D PSG11_ENST00000306322.7_Intron|PSG11_ENST00000320078.7_Silent_p.D85D|PSG11_ENST00000403486.1_Intron Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 85 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) TTATTTGACCGTCTACTACAT 0.443000 56 179 0 0 0.014410 0 0 SUPV3L1 6832 broad.mit.edu 37 10 70962246 70962246 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr10:70962246C>G ENST00000359655.4 + 12 1630 c.1570C>G c.(1570-1572)Ctc>Gtc p.L524V NM_003171.3 NP_003162.2 Q8IYB8 SUV3_HUMAN suppressor of var1, 3-like 1 (S. cerevisiae) 524 DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TGCCTACCATCTCCCTGATGC 0.373000 23 53 0 0 0.006320 0 0 SEC24D 9871 broad.mit.edu 37 4 119649746 119649746 + Silent SNP A A T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr4:119649746A>T ENST00000379735.5 - 22 3202 c.2931T>A c.(2929-2931)atT>atA p.I977I SEC24D_ENST00000280551.6_Silent_p.I976I|SEC24D_ENST00000511481.1_Silent_p.I607I|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000429811.2_3'UTR NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 976 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 TTTGTTGGATAATACCCATTA 0.308000 7 25 0 0 0.004482 0 0 MCOLN3 55283 broad.mit.edu 37 1 85491754 85491754 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr1:85491754G>T ENST00000370589.2 - 9 1015 c.963C>A c.(961-963)ttC>ttA p.F321L MCOLN3_ENST00000341115.4_Missense_Mutation_p.F265L|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370587.1_3'UTR NM_018298.10 NP_060768.8 Q8TDD5 MCLN3_HUMAN mucolipin 3 321 integral to membrane ion channel activity endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1) 34 all cancers(265;0.00957)|Epithelial(280;0.0254) AATGGAGGAGGAAAAAATTGA 0.363000 10 16 2.80697e-09 3.17211e-09 0.010729 1 0 PLCL2 23228 broad.mit.edu 37 3 17052859 17052859 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr3:17052859G>A ENST00000418129.2 + 2 2108 c.1643G>A c.(1642-1644)aGg>aAg p.R548K PLCL2_ENST00000396755.2_Missense_Mutation_p.R548K|PLCL2_ENST00000432376.1_Missense_Mutation_p.R548K NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 674 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 TTTCTTGCTAGGGTTTTTCCC 0.398000 16 23 0 0 0.006122 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45479008 45479008 + Missense_Mutation SNP A A T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr21:45479008A>T ENST00000291574.4 + 6 878 c.703A>T c.(703-705)Atg>Ttg p.M235L TRAPPC10_ENST00000380221.3_Missense_Mutation_p.M235L NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 235 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 TGTTTTCGAGATGCTGCAGCA 0.468000 9 28 0 0 0.008291 0 0 GOLGA2P5 55592 broad.mit.edu 37 12 100559710 100559710 + RNA SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr12:100559710T>G ENST00000397112.4 - 0 599 NR_036632.1 large_intestine(1)|lung(3) 4 CAGAGGCTGGTGCCCGCCTTC 0.602000 5 15 0 0 0.001984 0 0 RASD1 51655 broad.mit.edu 37 17 17399294 17399294 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr17:17399294G>T ENST00000225688.3 - 1 413 c.202C>A c.(202-204)Cgc>Agc p.R68S RASD1_ENST00000579152.1_Missense_Mutation_p.R68S NM_001199989.1|NM_016084.4 NP_001186918.1|NP_057168.1 Q9Y272 RASD1_HUMAN RAS, dexamethasone-induced 1 68 G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction nucleus|perinuclear region of cytoplasm|plasma membrane GTP binding|GTPase activity endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 4 ACCTCGCCGCGGATGGAGTAG 0.672000 15 72 3.41278e-10 3.90434e-10 0.004990 1 0 ACSM3 6296 broad.mit.edu 37 16 20797459 20797459 + Silent SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr16:20797459T>G ENST00000289416.5 + 9 1678 c.1203T>G c.(1201-1203)ccT>ccG p.P401P ACSM3_ENST00000440284.2_Silent_p.P401P|ACSM3_ENST00000450120.2_Silent_p.P393P|ACSM3_ENST00000567387.1_3'UTR|ERI2_ENST00000300005.3_Intron NM_005622.3 NP_005613.2 Q53FZ2 ACSM3_HUMAN acyl-CoA synthetase medium-chain family member 3 401 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 21 TGGGAAAACCTTCTCCTGCTT 0.388000 15 23 0 0 0.008871 0 0 UBE4A 9354 broad.mit.edu 37 11 118267058 118267058 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr11:118267058C>T ENST00000252108.3 + 20 3235 c.3104C>T c.(3103-3105)cCc>cTc p.P1035L UBE4A_ENST00000431736.2_Missense_Mutation_p.P1042L|UBE4A_ENST00000545354.1_Missense_Mutation_p.P507L NM_001204077.1|NM_004788.3 NP_001191006.1|NP_004779.2 Q14139 UBE4A_HUMAN ubiquitination factor E4A 1035 U-box. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) AACCGTAGTCCCCTCACCATG 0.418000 23 42 0 0 0.003954 0 0 PHF21B 112885 broad.mit.edu 37 22 45281799 45281799 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr22:45281799C>T ENST00000313237.5 - 11 1367 c.1217G>A c.(1216-1218)gGt>gAt p.G406D PHF21B_ENST00000403565.1_Missense_Mutation_p.G202D|PHF21B_ENST00000396103.3_Missense_Mutation_p.G364D|PHF21B_ENST00000404079.2_Missense_Mutation_p.G352D NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 406 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) CCAGGGCACACCCTCGTCTTT 0.597000 57 84 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179457367 179457367 + Missense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr2:179457367C>A ENST00000589042.1 - 301 59589 c.59365G>T c.(59365-59367)Gat>Tat p.D19789Y TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D10916Y|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D17221Y|TTN_ENST00000591111.1_Missense_Mutation_p.D18148Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D10849Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D10724Y NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18148 Fibronectin type-III 43. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGTTGGCATCAAGAATCAAC 0.363000 35 51 7.65355e-07 8.51075e-07 0.012213 1 0 RIN2 54453 broad.mit.edu 37 20 19981537 19981537 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr20:19981537G>T ENST00000255006.6 + 12 2941 c.2792G>T c.(2791-2793)gGc>gTc p.G931V RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.G449V NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 882 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 GATCCTTATGGCATCATTTTC 0.532000 22 63 5.45024e-15 6.50286e-15 0.003330 1 0 NRIP1 8204 broad.mit.edu 37 21 16339770 16339770 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr21:16339770T>A ENST00000400202.1 - 3 1456 c.744A>T c.(742-744)gaA>gaT p.E248D NRIP1_ENST00000400199.1_Missense_Mutation_p.E248D|NRIP1_ENST00000318948.4_Missense_Mutation_p.E248D P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 248 Repression domain 1. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) TAGCCCTTTTTTCCACCATGC 0.473000 19 47 0 0 0.012319 0 0 ASB4 51666 broad.mit.edu 37 7 95157465 95157465 + Silent SNP C C A rs146416403 by1000genomes TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr7:95157465C>A ENST00000325885.5 + 3 899 c.828C>A c.(826-828)gcC>gcA p.A276A ASB4_ENST00000428113.1_Silent_p.A276A NM_016116.2 NP_057200.1 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box containing 4 276 intracellular signal transduction central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) AAGCTGGCGCCGAAGCCAATC 0.577000 OREG0018172 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 35 8.10497e-08 9.04893e-08 0.010504 1 0 ZNF71 58491 broad.mit.edu 37 19 57133864 57133864 + Silent SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr19:57133864G>T ENST00000328070.6 + 3 1443 c.1209G>T c.(1207-1209)gtG>gtT p.V403V NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 403 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) ACCAGATCGTGCACACCGGGG 0.647000 15 47 8.60227e-14 1.01332e-13 0.004007 1 0 PIK3CA 5290 broad.mit.edu 37 3 178916946 178916946 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr3:178916946G>C ENST00000263967.3 + 2 490 c.333G>C c.(331-333)aaG>aaC p.K111N NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 111 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.K111N(12)|p.K111_L113delKIL(2)|p.K111_I112>N(1)|p.K111del(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GTGAAGAAAAGATCCTCAATC 0.328000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 6 42 0 0 0.003080 0 0 C15orf39 56905 broad.mit.edu 37 15 75498857 75498857 + Silent SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr15:75498857T>C ENST00000360639.2 + 2 788 c.468T>C c.(466-468)gaT>gaC p.D156D C15orf39_ENST00000394987.4_Silent_p.D156D|C15orf39_ENST00000567617.1_Silent_p.D156D Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 156 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 GGCCACTGGATGTTGACTGGA 0.622000 37 66 0 0 0.007835 0 0 BRD2 6046 broad.mit.edu 37 6 32947816 32947816 + Nonsense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr6:32947816G>T ENST00000395289.2 + 12 3759 c.2158G>T c.(2158-2160)Gag>Tag p.E720* BRD2_ENST00000374831.4_Nonsense_Mutation_p.E685*|BRD2_ENST00000443797.2_Nonsense_Mutation_p.E565*|BRD2_ENST00000395287.1_Nonsense_Mutation_p.E720*|BRD2_ENST00000449085.2_Nonsense_Mutation_p.E638*|BRD2_ENST00000374825.4_Nonsense_Mutation_p.E685* P25440 BRD2_HUMAN bromodomain containing 2 685 ET. spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 AGAAGAGATTGAGATTGATTT 0.483000 4 60 1.23904e-05 1.34028e-05 0.000602 1 0 RFC4 5984 broad.mit.edu 37 3 186518927 186518927 + Missense_Mutation SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr3:186518927T>G ENST00000392481.2 - 3 470 c.189A>C c.(187-189)aaA>aaC p.K63N RFC4_ENST00000433496.1_Missense_Mutation_p.K63N|RFC4_ENST00000296273.2_Missense_Mutation_p.K63N NM_181573.2 NP_853551.1 P35249 RFC4_HUMAN replication factor C (activator 1) 4, 37kDa 63 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) CTAAAGATTTTTTCAGCACTG 0.378000 24 106 0 0 0.006320 0 0 ANO4 121601 broad.mit.edu 37 12 101520815 101520815 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr12:101520815G>C ENST00000392979.3 + 26 3091 c.2730G>C c.(2728-2730)aaG>aaC p.K910N ANO4_ENST00000392977.3_Missense_Mutation_p.K945N|ANO4_ENST00000299222.9_Missense_Mutation_p.K465N|ANO4_ENST00000550015.1_Missense_Mutation_p.K465N NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 945 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 AGAGGAAGAAGAATGGAAAAG 0.488000 HNSCC(74;0.22) 6 16 0 0 0.001984 0 0 LIFR 3977 broad.mit.edu 37 5 38482196 38482196 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr5:38482196C>T ENST00000263409.4 - 20 2957 c.2795G>A c.(2794-2796)cGt>cAt p.R932H LIFR_ENST00000453190.2_Missense_Mutation_p.R932H NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 932 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) ATCTTCAGGACGCTCAGCTAC 0.433000 T PLAG1 salivary adenoma 29 188 0 0 0.012213 0 0 TSPYL5 85453 broad.mit.edu 37 8 98289495 98289495 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr8:98289495G>A ENST00000322128.3 - 1 681 c.578C>T c.(577-579)tCg>tTg p.S193L NM_033512.2 NP_277047.2 Q86VY4 TSYL5_HUMAN TSPY-like 5 193 cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth nucleus protein binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 20 Breast(36;2.56e-06) TGGGGGCCCCGACCCTGCATC 0.622000 24 96 0 0 0.003954 0 0 DEFB114 245928 broad.mit.edu 37 6 49928037 49928037 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr6:49928037C>T ENST00000322066.3 - 2 177 c.178G>A c.(178-180)Gag>Aag p.E60K NM_001037499.1 NP_001032588.1 Q30KQ6 DB114_HUMAN defensin, beta 114 60 defense response to bacterium extracellular region kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 Lung NSC(77;0.042) TACAATTTCTCAGTGCAGCAA 0.378000 12 24 0 0 0.001855 0 0 PCDH8 5100 broad.mit.edu 37 13 53419596 53419596 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr13:53419596C>T ENST00000377942.3 - 2 3006 c.2803G>A c.(2803-2805)Gct>Act p.A935T PCDH8_ENST00000338862.4_Missense_Mutation_p.A838T NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 935 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) TTTTTCAGAGCGTCCCCGCTG 0.522000 7 74 0 0 0.003080 0 0 TEX101 83639 broad.mit.edu 37 19 43920656 43920656 + Missense_Mutation SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr19:43920656T>C ENST00000602198.1 + 6 836 c.394T>C c.(394-396)Tgt>Cgt p.C132R TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Missense_Mutation_p.C132R|TEX101_ENST00000598265.1_Missense_Mutation_p.C114R NM_031451.4 NP_113639.4 Q9BY14 TX101_HUMAN testis expressed 101 114 anchored to membrane|plasma membrane large_intestine(1)|lung(12)|ovary(1)|skin(1) 15 Prostate(69;0.0199) GGATTCCTTCTGTAATGACAA 0.507000 98 142 0 0 0.014410 0 0 SKIDA1 387640 broad.mit.edu 37 10 21804965 21804965 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr10:21804965C>G ENST00000449193.2 - 4 4039 c.1787G>C c.(1786-1788)cGa>cCa p.R596P SKIDA1_ENST00000444772.3_Missense_Mutation_p.R517P NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 CCTAGCCTCTCGGAGTATTCT 0.438000 16 81 0 0 0.003163 0 0 MUC16 94025 broad.mit.edu 37 19 9088493 9088493 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr19:9088493C>G ENST00000397910.4 - 1 3525 c.3322G>C c.(3322-3324)Gat>Cat p.D1108H NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1108 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding 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 TAGACATCATCAGAAAATGTG 0.443000 18 36 0 0 0.004990 0 0 NEB 4703 broad.mit.edu 37 2 152397296 152397296 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr2:152397296G>T ENST00000397345.3 - 137 20904 c.20702C>A c.(20701-20703)gCc>gAc p.A6901D NEB_ENST00000604864.1_Missense_Mutation_p.A6901D|NEB_ENST00000427231.2_Missense_Mutation_p.A6901D|NEB_ENST00000409198.1_Missense_Mutation_p.A5200D|NEB_ENST00000172853.10_Missense_Mutation_p.A5200D|NEB_ENST00000603639.1_Missense_Mutation_p.A6901D NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 5200 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 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) CTCTTTGGTGGCAAGTTCAAC 0.413000 26 45 2.79863e-10 3.21496e-10 0.004656 1 0 SLC16A6 9120 broad.mit.edu 37 17 66267356 66267356 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr17:66267356G>A ENST00000327268.4 - 6 1109 c.945C>T c.(943-945)atC>atT p.I315I SLC16A6_ENST00000580666.1_Silent_p.I315I|ARSG_ENST00000448504.2_Intron NM_001174166.1 NP_001167637.1 O15403 MOT7_HUMAN solute carrier family 16, member 6 315 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2) 15 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) CCAGAGGAATGATGTACAAGG 0.423000 12 24 0 0 0.010729 0 0 NIN 51199 broad.mit.edu 37 14 51259494 51259494 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr14:51259494G>A ENST00000245441.5 - 5 561 c.371C>T c.(370-372)aCg>aTg p.T124M NIN_ENST00000324330.9_Missense_Mutation_p.T124M|NIN_ENST00000382041.3_Missense_Mutation_p.T124M|NIN_ENST00000382043.4_Missense_Mutation_p.T124M|NIN_ENST00000389868.3_Missense_Mutation_p.T124M|NIN_ENST00000453196.1_Missense_Mutation_p.T124M|NIN_ENST00000530997.2_Missense_Mutation_p.T124M|NIN_ENST00000486200.1_5'UTR NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 124 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) CTCAATCACCGTCACTTCAGG 0.542000 T PDGFRB MPD 26 45 0 0 0.004656 0 0 NR0B1 190 broad.mit.edu 37 X 30327172 30327172 + Silent SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chrX:30327172C>A ENST00000378970.4 - 1 543 c.309G>T c.(307-309)ccG>ccT p.P103P NR0B1_ENST00000453287.1_Silent_p.P103P NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 103 4 X 67 AA tandem repeats. adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) AGCCCCAGCACGGACCCAGCG 0.677000 OREG0019719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 15 2.37509e-13 2.76266e-13 0.010504 1 0 FAM86DP 692099 broad.mit.edu 37 3 75477008 75477008 + RNA SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr3:75477008C>T ENST00000459803.1 - 0 430 NR_024241.1 CCTGTGGTACCATGGGAGATG 0.582000 20 10 0 0 0.002780 0 0 IGKV1D-43 28891 broad.mit.edu 37 2 90249391 90249391 + RNA SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr2:90249391C>T ENST00000468879.1 + 0 528 TATTATAGTACCCCTCCCACA 0.517000 54 138 0 0 0.014410 0 0 SCN3A 6328 broad.mit.edu 37 2 166003416 166003416 + Nonsense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr2:166003416G>A ENST00000360093.3 - 12 1995 c.1504C>T c.(1504-1506)Cga>Tga p.R502* SCN3A_ENST00000409101.3_Nonsense_Mutation_p.R502*|SCN3A_ENST00000283254.7_Nonsense_Mutation_p.R502* NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 502 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TTCTTCCTTCGGTTCCTCCAT 0.428000 51 96 0 0 0.014410 0 0 SAA4 6291 broad.mit.edu 37 11 18257396 18257396 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr11:18257396C>T ENST00000278222.4 - 2 258 c.78G>A c.(76-78)aaG>aaA p.K26K SAA2-SAA4_ENST00000524555.1_RNA NM_006512.3 NP_006503.2 serum amyloid A4, constitutive haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1) 13 GGAGAGCCTCCTTGAAAAACG 0.493000 24 79 0 0 0.005443 0 0 VPS16 64601 broad.mit.edu 37 20 2845938 2845938 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr20:2845938C>T ENST00000380445.3 + 21 2221 c.2149C>T c.(2149-2151)Cgt>Tgt p.R717C PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.R573C|VPS16_ENST00000380443.3_Missense_Mutation_p.R403C NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 717 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 GCAGCTGGCACGTGACTTCCG 0.592000 23 60 0 0 0.014323 0 0 POLE 5426 broad.mit.edu 37 12 133249289 133249289 + Missense_Mutation SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr12:133249289T>C ENST00000320574.5 - 15 1653 c.1610A>G c.(1609-1611)gAg>gGg p.E537G POLE_ENST00000535270.1_Missense_Mutation_p.E510G NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 537 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GACGTAGGTCTCAGAGTCCAG 0.577000 DNA polymerases (catalytic subunits) 31 64 0 0 0.012213 0 0 SEC16A 9919 broad.mit.edu 37 9 139366454 139366454 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr9:139366454C>T ENST00000313050.7 - 2 3750 c.3677G>A c.(3676-3678)aGc>aAc p.S1226N SEC16A_ENST00000290037.6_Missense_Mutation_p.S1048N|SEC16A_ENST00000431893.2_Missense_Mutation_p.S1048N|SEC16A_ENST00000371706.3_Missense_Mutation_p.S1048N NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 1048 Required for endoplasmic reticulum localization. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) CGAGGAGTGGCTGGCTCGGGA 0.637000 33 37 0 0 0.013726 0 0 PLEKHH3 79990 broad.mit.edu 37 17 40823111 40823111 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr17:40823111C>T ENST00000293349.6 - 9 1752 c.1322G>A c.(1321-1323)cGg>cAg p.R441Q PLEKHH3_ENST00000591022.1_Missense_Mutation_p.R441Q|PLEKHH3_ENST00000412503.1_Missense_Mutation_p.R441Q|PLEKHH3_ENST00000456950.2_5'UTR Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 441 FERM. signal transduction cytoskeleton endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2) 13 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) GTTGCGGCTCCGGGCCAAGCC 0.667000 32 55 0 0 0.012213 0 0 DCLK2 166614 broad.mit.edu 37 4 151168815 151168815 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr4:151168815G>A ENST00000296550.7 + 13 2593 c.1839G>A c.(1837-1839)ccG>ccA p.P613P DCLK2_ENST00000506325.1_Silent_p.P612P|DCLK2_ENST00000302176.8_Silent_p.P630P NM_001040260.3 NP_001035350.2 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 613 Protein kinase. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) TGGAGTTTCCGGCCCCCTACT 0.512000 12 25 0 0 0.001855 0 0 ITPR2 3709 broad.mit.edu 37 12 26808679 26808679 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr12:26808679G>A ENST00000381340.3 - 20 2967 c.2551C>T c.(2551-2553)Cct>Tct p.P851S NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 851 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TCCCCAAAAGGAAAGGGCTGG 0.338000 37 61 0 0 0.004289 0 0 CST3 1471 broad.mit.edu 37 20 23614554 23614554 + Nonstop_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr20:23614554T>A ENST00000398411.1 - 3 522 c.440A>T c.(439-441)tAg>tTg p.*147L CST3_ENST00000398409.1_Nonstop_Mutation_p.*147L|CST3_ENST00000376925.3_Nonstop_Mutation_p.*147L P01034 CYTC_HUMAN cystatin C 0 defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly extracellular space beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding large_intestine(2)|lung(1)|ovary(1) 4 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) TACAGACCCCTAGGCGTCCTG 0.577000 31 97 0 0 0.010818 0 0 SYN3 8224 broad.mit.edu 37 22 32909744 32909744 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr22:32909744C>G ENST00000358763.2 - 14 1920 c.1678G>C c.(1678-1680)Gac>Cac p.D560H SYN3_ENST00000332840.5_Missense_Mutation_p.D560H|SYN3_ENST00000467095.1_5'UTR NM_001135774.1 NP_001129246.1 O14994 SYN3_HUMAN synapsin III 560 E. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity 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 TTGGCCTCGTCTTCACTTGGG 0.562000 28 55 0 0 0.005443 0 0 WDR54 84058 broad.mit.edu 37 2 74652827 74652827 + Nonstop_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr2:74652827G>C ENST00000348227.4 + 10 1092 c.1004G>C c.(1003-1005)tGa>tCa p.*335S WDR54_ENST00000409791.1_3'UTR NM_032118.2 NP_115494.1 Q9H977 WDR54_HUMAN WD repeat domain 54 0 breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 AGCAGTGTGTGAGAAGAGCAG 0.507000 71 98 0 0 0.014410 0 0 NLRP11 204801 broad.mit.edu 37 19 56303779 56303779 + Missense_Mutation SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr19:56303779A>G ENST00000443188.1 - 9 3111 c.2401T>C c.(2401-2403)Ttc>Ctc p.F801L NLRP11_ENST00000592953.1_Missense_Mutation_p.F702L|NLRP11_ENST00000589824.2_Missense_Mutation_p.F747L|NLRP11_ENST00000589093.1_Missense_Mutation_p.F801L|NLRP11_ENST00000360133.3_Missense_Mutation_p.F747L NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 801 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) GTTGGGCTGAACAGAAGCACT 0.473000 9 78 0 0 0.004482 0 0 TARS2 80222 broad.mit.edu 37 1 150478094 150478094 + Missense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr1:150478094C>A ENST00000369064.3 + 17 1955 c.1921C>A c.(1921-1923)Ctg>Atg p.L641M TARS2_ENST00000606933.1_Missense_Mutation_p.L559M|TARS2_ENST00000369054.2_Missense_Mutation_p.L511M NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 641 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) GGCTGCAGGACTGGTCAGTGA 0.527000 42 69 4.0306e-16 4.87177e-16 0.014410 1 0 HSPA8 3312 broad.mit.edu 37 11 122928593 122928593 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr11:122928593T>A ENST00000534624.1 - 9 2066 c.1790A>T c.(1789-1791)aAa>aTa p.K597I HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000534319.1_Missense_Mutation_p.K361I|HSPA8_ENST00000526110.1_Missense_Mutation_p.K578I|HSPA8_ENST00000532636.1_Missense_Mutation_p.K597I|HSPA8_ENST00000533540.1_Missense_Mutation_p.K451I|HSPA8_ENST00000227378.3_Missense_Mutation_p.K597I NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 597 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CTCCAGCTCTTTCTGTTGATG 0.463000 53 88 0 0 0.014410 0 0 IKBIP 121457 broad.mit.edu 37 12 99020188 99020188 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr12:99020188T>A ENST00000299157.4 - 3 1027 c.654A>T c.(652-654)agA>agT p.R218S IKBIP_ENST00000342502.2_Intron|IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron NM_153687.3 NP_710154.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 219 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 CTTCTTCTTGTCTTTTTACTG 0.408000 25 58 0 0 0.003330 0 0 GNB2L1 10399 broad.mit.edu 37 5 180666087 180666087 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr5:180666087G>A ENST00000512805.1 - 5 1024 c.616C>T c.(616-618)Ctc>Ttc p.L206F GNB2L1_ENST00000511900.1_Missense_Mutation_p.L158F|GNB2L1_ENST00000376817.4_Missense_Mutation_p.L162F|GNB2L1_ENST00000511566.1_Missense_Mutation_p.L206F|GNB2L1_ENST00000504726.1_Intron NM_006098.4 NP_006089.1 P63244 GBLP_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1 206 apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding p.L206I(1) lung(3)|skin(2) 5 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11) GAAGCACAGAGGGATCCATCT 0.522000 47 45 0 0 0.014410 0 0 MGAM 8972 broad.mit.edu 37 7 141730195 141730195 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr7:141730195G>A ENST00000475668.2 + 11 1309 c.1255G>A c.(1255-1257)Gag>Aag p.E419K MGAM_ENST00000549489.2_Missense_Mutation_p.E419K O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 419 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TTATATGGATGAGAGAAGGGA 0.348000 7 13 0 0 0.004482 0 0 RRM2B 50484 broad.mit.edu 37 8 103236307 103236307 + Silent SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr8:103236307A>G ENST00000251810.3 - 5 760 c.517T>C c.(517-519)Ttg>Ctg p.L173L RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000395912.2_Silent_p.L121L NM_001172478.1|NM_015713.4 NP_001165949.1|NP_056528.2 Q7LG56 RIR2B_HUMAN ribonucleotide reductase M2 B (TP53 inducible) 173 deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion nucleoplasm ribonucleoside-diphosphate reductase activity|transition metal ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 9 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000728) ATCCATCGCAAGGCCCAATCT 0.333000 Modulation of nucleotide pools 66 82 0 0 0.014410 0 0 ATP13A1 57130 broad.mit.edu 37 19 19766741 19766741 + Splice_Site SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr19:19766741C>G ENST00000357324.6 - 9 1241 c.1213_splice c.e9-1 p.P405_splice ATP13A1_ENST00000291503.5_Splice_Site_p.P287_splice NM_020410.2 NP_065143.2 Q9HD20 AT131_HUMAN ATPase type 13A1 405 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.P405P(1)|p.?(1) central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 CGCTGTCAACCGCTGGGGAGA 0.652000 4 16 0 0 0.009096 0 0 DUSP26 78986 broad.mit.edu 37 8 33451188 33451188 + Missense_Mutation SNP C C T rs141858173 TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr8:33451188C>T ENST00000256261.4 - 3 816 c.299G>A c.(298-300)cGa>cAa p.R100Q DUSP26_ENST00000523956.1_Missense_Mutation_p.R100Q NM_024025.1 NP_076930.1 Q9BV47 DUS26_HUMAN dual specificity phosphatase 26 (putative) 100 Tyrosine-protein phosphatase. Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1) 15 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) GGGCGTGCCTCGCCACCGGCT 0.632000 10 34 0 0 0.006214 0 0 TRIM48 79097 broad.mit.edu 37 11 55032387 55032387 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr11:55032387C>T ENST00000417545.2 + 2 142 c.56C>T c.(55-57)tCt>tTt p.S19F NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 3 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AACATGAATTCTGGAATCTCG 0.463000 89 188 0 0 0.014410 0 0 EPHA3 2042 broad.mit.edu 37 3 89456492 89456492 + Silent SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr3:89456492C>G ENST00000336596.2 + 8 1893 c.1668C>G c.(1666-1668)ctC>ctG p.L556L EPHA3_ENST00000494014.1_Silent_p.L556L NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 556 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TTATTCTCCTCACTGTTGTCA 0.408000 TSP Lung(6;0.00050) 10 13 0 0 0.010729 0 0 AFTPH 54812 broad.mit.edu 37 2 64780007 64780007 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr2:64780007C>T ENST00000422803.1 + 2 1713 c.1399C>T c.(1399-1401)Cac>Tac p.H467Y AFTPH_ENST00000409183.1_Missense_Mutation_p.H98Y|AFTPH_ENST00000238856.4_Missense_Mutation_p.H467Y|AFTPH_ENST00000238855.7_Missense_Mutation_p.H467Y|AFTPH_ENST00000409933.1_Missense_Mutation_p.H467Y Q6ULP2 AFTIN_HUMAN aftiphilin 467 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 GTCTTCAGAGCACTTTCCACA 0.413000 33 58 0 0 0.010818 0 0 PKD1L1 168507 broad.mit.edu 37 7 47898336 47898336 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr7:47898336C>G ENST00000289672.2 - 27 4347 c.4297G>C c.(4297-4299)Gaa>Caa p.E1433Q NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1433 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TTCGAGTTTTCTTGCTCAGAG 0.438000 16 57 0 0 0.004990 0 0 RFX6 222546 broad.mit.edu 37 6 117198535 117198535 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr6:117198535C>T ENST00000332958.2 + 1 113 c.97C>T c.(97-99)Ctg>Ttg p.L33L NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 33 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 TGTGCAGCTCCTGGGCAAGGG 0.667000 15 6 0 0 0.004007 0 0 ENTPD8 377841 broad.mit.edu 37 9 140330690 140330690 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr9:140330690G>A ENST00000371506.2 - 7 1008 c.825C>T c.(823-825)ctC>ctT p.L275L ENTPD8_ENST00000344119.2_Silent_p.L275L|ENTPD8_ENST00000472938.1_Silent_p.L275L NM_001033113.1 NP_001028285.1 Q5MY95 ENTP8_HUMAN ectonucleoside triphosphate diphosphohydrolase 8 275 integral to membrane|plasma membrane ATP binding biliary_tract(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898) GGTAGCCGCTGAGGTAGCACG 0.706000 12 32 0 0 0.013537 0 0 ABCF1 23 broad.mit.edu 37 6 30546284 30546284 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr6:30546284G>C ENST00000326195.8 + 6 531 c.419G>C c.(418-420)aGt>aCt p.S140T ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.S140T NM_001025091.1 NP_001020262.1 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F (GCN20), member 1 140 inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 CAGGATCAGAGTGAGGAAGAG 0.502000 19 5 0 0 0.012319 0 0 PLBD1 79887 broad.mit.edu 37 12 14706306 14706306 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr12:14706306C>G ENST00000240617.5 - 2 808 c.156G>C c.(154-156)aaG>aaC p.K52N NM_024829.5 NP_079105.4 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 52 lipid catabolic process extracellular region hydrolase activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 CTTGTACTGTCTTTTCAGCAG 0.413000 26 38 0 0 0.005443 0 0 SRGAP1 57522 broad.mit.edu 37 12 64521813 64521813 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr12:64521813G>A ENST00000355086.3 + 21 3237 c.2713G>A c.(2713-2715)Gac>Aac p.D905N SRGAP1_ENST00000357825.3_Missense_Mutation_p.D882N|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D842N NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 905 axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CCTCAACAATGACAGTCCTGA 0.617000 31 54 0 0 0.010818 0 0 SELP 6403 broad.mit.edu 37 1 169576215 169576215 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr1:169576215G>C ENST00000263686.6 - 9 1528 c.1491C>G c.(1489-1491)aaC>aaG p.N497K SELP_ENST00000367793.2_Missense_Mutation_p.N435K|SELP_ENST00000458599.2_Missense_Mutation_p.N435K|SELP_ENST00000367792.2_Missense_Mutation_p.N435K|SELP_ENST00000367791.2_Missense_Mutation_p.N373K|SELP_ENST00000367786.2_Missense_Mutation_p.N435K|SELP_ENST00000367788.2_Missense_Mutation_p.N435K|SELP_ENST00000367794.2_Missense_Mutation_p.N435K NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 497 Sushi 5. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) CAGAATTCCAGTTTCCAGTAG 0.453000 38 40 0 0 0.007835 0 0 CPS1 1373 broad.mit.edu 37 2 211473156 211473156 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr2:211473156C>T ENST00000233072.5 + 19 2460 c.2264C>T c.(2263-2265)tCc>tTc p.S755F CPS1_ENST00000451903.2_Missense_Mutation_p.S304F|CPS1_ENST00000430249.2_Missense_Mutation_p.S761F NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 755 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 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) AACGTCGTATCCGGGAAGACA 0.423000 27 47 0 0 0.006320 0 0 SERPINH1 871 broad.mit.edu 37 11 75277799 75277799 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr11:75277799C>T ENST00000524558.1 + 2 1840 c.405C>T c.(403-405)taC>taT p.Y135Y SERPINH1_ENST00000358171.3_Silent_p.Y135Y|SERPINH1_ENST00000533603.1_Silent_p.Y135Y|SERPINH1_ENST00000530284.1_Silent_p.Y135Y P50454 SERPH_HUMAN serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 135 regulation of proteolysis|response to unfolded protein endoplasmic reticulum lumen|ER-Golgi intermediate compartment collagen binding|serine-type endopeptidase inhibitor activity endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1) 15 Ovarian(111;0.11) GCCGACTGTACGGACCCAGCT 0.642000 16 25 0 0 0.003163 0 0 BOD1L1 259282 broad.mit.edu 37 4 13610154 13610154 + Splice_Site SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr4:13610154C>T ENST00000040738.5 - 8 1877 c.1742_splice c.e8+1 p.R581_splice NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 581 Lys-rich. DNA binding AAATATGTACCTTGAATCTTT 0.363000 3 4 0 0 0.009096 0 0 TEX2 55852 broad.mit.edu 37 17 62290905 62290905 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr17:62290905T>A ENST00000258991.3 - 2 757 c.673A>T c.(673-675)Act>Tct p.T225S TEX2_ENST00000583097.1_Missense_Mutation_p.T225S|TEX2_ENST00000584379.1_Missense_Mutation_p.T225S Q8IWB9 TEX2_HUMAN testis expressed 2 225 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) TGCCGGGAAGTGTCCGTGGAC 0.532000 41 58 0 0 0.007835 0 0 PTPRN2 5799 broad.mit.edu 37 7 157959789 157959789 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr7:157959789G>A ENST00000389413.3 - 6 847 c.744C>T c.(742-744)gcC>gcT p.A248A PTPRN2_ENST00000389418.4_Silent_p.A248A|PTPRN2_ENST00000389416.4_Silent_p.A231A|PTPRN2_ENST00000404321.2_Silent_p.A271A|PTPRN2_ENST00000409483.1_Silent_p.A210A NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 248 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity 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) GGGCAGCATAGGCACTGAGGG 0.662000 13 12 0 0 0.001855 0 0 CASP7 840 broad.mit.edu 37 10 115481445 115481445 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr10:115481445G>A ENST00000369321.2 + 5 702 c.382G>A c.(382-384)Gag>Aag p.E128K CASP7_ENST00000369318.3_Missense_Mutation_p.E95K|CASP7_ENST00000468790.1_3'UTR|CASP7_ENST00000452490.2_Missense_Mutation_p.E70K|CASP7_ENST00000345633.4_Missense_Mutation_p.E95K|CASP7_ENST00000369331.4_Missense_Mutation_p.E95K|CASP7_ENST00000369315.1_Missense_Mutation_p.E95K NM_033338.5 NP_203124.1 P55210 CASP7_HUMAN caspase 7, apoptosis-related cysteine peptidase 95 activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm cysteine-type endopeptidase activity|protein binding kidney(1)|large_intestine(1)|lung(5)|ovary(1) 8 Colorectal(252;0.0946)|Breast(234;0.188) Epithelial(162;0.012)|all cancers(201;0.014) CAAAGATGCCGAGGCGCTCTT 0.502000 39 71 0 0 0.005524 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 60 0 0 0.009096 0 0 ZNF347 84671 broad.mit.edu 37 19 53644866 53644866 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr19:53644866T>A ENST00000452676.2 - 5 1644 c.1218A>T c.(1216-1218)gaA>gaT p.E406D ZNF347_ENST00000601469.2_Missense_Mutation_p.E406D|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.E405D NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) CCTTGCCACATTCATTACATT 0.423000 42 60 0 0 0.006230 0 0 MFI2 4241 broad.mit.edu 37 3 196735690 196735690 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr3:196735690C>T ENST00000296350.5 - 12 1785 c.1672G>A c.(1672-1674)Ggc>Agc p.G558S NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 558 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) CTGAAGGCGCCGCGGTAGCCG 0.672000 26 60 0 0 0.006320 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999149 46999149 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr10:46999149G>C ENST00000374314.4 + 1 1224 c.269G>C c.(268-270)tGg>tCg p.W90S GPRIN2_ENST00000374317.1_Missense_Mutation_p.W90S O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 90 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 GGAGGCCACTGGTGGAGCAGC 0.667000 9 58 0 0 0.004007 0 0 MICU3 286097 broad.mit.edu 37 8 16884802 16884802 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr8:16884802G>T ENST00000318063.5 + 1 56 c.14G>T c.(13-15)cGa>cTa p.R5L NM_181723.2 NP_859074.1 mitochondrial calcium uptake family, member 3 p.R5P(1) GCTGCGCTGCGAAGGCTCTTG 0.731000 8 15 1.58986e-06 1.7539e-06 0.008291 1 0 MTHFD2P1 100287639 broad.mit.edu 37 3 95374086 95374086 + RNA SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr3:95374086C>T ENST00000494840.1 - 0 1775 NR_077228.1 CTATTGTGAACAGGTTTAGAA 0.393000 4 22 0 0 0.009096 0 0 OR10S1 219873 broad.mit.edu 37 11 123847492 123847492 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr11:123847492T>A ENST00000531945.1 - 1 996 c.907A>T c.(907-909)Act>Tct p.T303S NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TTCCGCAAAGTGTAAATGAAT 0.537000 43 83 0 0 0.010771 0 0 ALKBH1 8846 broad.mit.edu 37 14 78161201 78161201 + Nonsense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr14:78161201C>T ENST00000216489.3 - 3 350 c.335G>A c.(334-336)tGg>tAg p.W112* ALKBH1_ENST00000554097.1_5'UTR NM_006020.2 NP_006011.2 Q13686 ALKB1_HUMAN alkB, alkylation repair homolog 1 (E. coli) 112 DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) CACCCAGTGCCACTGGTAACC 0.418000 27 51 0 0 0.003954 0 0 MMP21 118856 broad.mit.edu 37 10 127462420 127462420 + Missense_Mutation SNP A A T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr10:127462420A>T ENST00000368808.3 - 2 676 c.677T>A c.(676-678)aTc>aAc p.I226N NM_147191.1 NP_671724.1 Q8N119 MMP21_HUMAN matrix metallopeptidase 21 226 proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 16 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) GCCCAGCTTGATGTCGACCGC 0.726000 22 41 0 0 0.006320 0 0 NUTM1 256646 broad.mit.edu 37 15 34638159 34638159 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr15:34638159G>T ENST00000537011.1 + 2 405 c.23G>T c.(22-24)gGa>gTa p.G8V NUTM1_ENST00000333756.4_5'UTR|NUTM1_ENST00000438749.3_Intron NUT midline carcinoma, family member 1 CTGGGTCCTGGACCTGACTGC 0.527000 24 44 1.64293e-13 1.92715e-13 0.003330 1 0 MYO7B 4648 broad.mit.edu 37 2 128384629 128384629 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr2:128384629T>A ENST00000389524.4 + 31 4270 c.4217T>A c.(4216-4218)cTg>cAg p.L1406Q MYO7B_ENST00000409816.2_Missense_Mutation_p.L1406Q|MYO7B_ENST00000428314.1_Missense_Mutation_p.L1406Q|MYO7B_ENST00000409090.1_Missense_Mutation_p.L259Q Q6PIF6 MYO7B_HUMAN myosin VIIB 1406 FERM 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CAGTGGCCGCTGCTCTTCTCC 0.637000 7 12 0 0 0.003080 0 0 NBEA 26960 broad.mit.edu 37 13 35619136 35619136 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr13:35619136G>A ENST00000400445.3 + 3 1113 c.579G>A c.(577-579)aaG>aaA p.K193K NBEA_ENST00000379939.2_Silent_p.K193K|NBEA_ENST00000310336.4_Silent_p.K193K|NBEA_ENST00000540320.1_Silent_p.K193K NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 193 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TCACTGTCAAGGAGTTGAAGC 0.418000 9 14 0 0 0.006214 0 0 XYLT1 64131 broad.mit.edu 37 16 17292261 17292261 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr16:17292261T>A ENST00000261381.6 - 5 1181 c.1097A>T c.(1096-1098)tAc>tTc p.Y366F NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 366 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CCGATGCAGGTAATTAGAGCG 0.587000 10 17 0 0 0.008291 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140769259 140769259 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr5:140769259C>T ENST00000519479.1 + 1 1808 c.1808C>T c.(1807-1809)tCc>tTc p.S603F PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCTGGCTGTCCTACCACGTG 0.662000 28 21 0 0 0.006320 0 0 CLSTN2 64084 broad.mit.edu 37 3 140281753 140281753 + Nonsense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr3:140281753C>A ENST00000458420.3 + 14 2503 c.2313C>A c.(2311-2313)tgC>tgA p.C771* NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 771 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 GGATTAAGTGCTCAGAACTCA 0.562000 HNSCC(16;0.037) 10 38 0.000673444 0.00071457 0.008291 1 0 FOSB 2354 broad.mit.edu 37 19 45971882 45971882 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr19:45971882C>T ENST00000353609.3 + 1 630 c.38C>T c.(37-39)tCc>tTc p.S13F FOSB_ENST00000590335.1_Missense_Mutation_p.S13F|FOSB_ENST00000417353.2_Missense_Mutation_p.S13F|FOSB_ENST00000585836.1_Missense_Mutation_p.S13F|FOSB_ENST00000443841.2_Missense_Mutation_p.S13F|FOSB_ENST00000592436.1_Missense_Mutation_p.S13F|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000591858.1_Missense_Mutation_p.S13F NM_006732.2 NP_006723.2 P53539 FOSB_HUMAN FBJ murine osteosarcoma viral oncogene homolog B 13 behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 13 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) GACTCCGGCTCCCGGTGCAGC 0.632000 56 66 0 0 0.014410 0 0 VPS72 6944 broad.mit.edu 37 1 151150569 151150569 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr1:151150569C>T ENST00000354473.4 - 5 651 c.615G>A c.(613-615)cgG>cgA p.R205R VPS72_ENST00000496809.1_5'UTR NM_001271087.1|NM_005997.1 NP_001258016.1|NP_005988.1 Q15906 VPS72_HUMAN vacuolar protein sorting 72 homolog (S. cerevisiae) 205 chromatin modification|negative regulation of transcription from RNA polymerase II promoter nucleus|protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 14 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CGGGGCACTTCCGCTTCTTAT 0.493000 19 57 0 0 0.006122 0 0 DOCK9 23348 broad.mit.edu 37 13 99512635 99512635 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr13:99512635G>A ENST00000442173.1 - 33 3895 c.3721C>T c.(3721-3723)Ctt>Ttt p.L1241F DOCK9_ENST00000448493.2_Intron|DOCK9_ENST00000376460.1_Intron|DOCK9_ENST00000339416.2_Intron|DOCK9_ENST00000461998.1_5'UTR NM_001130049.1|NM_001130050.1 NP_001123521.1|NP_001123522.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 0 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GTGGAGAGAAGCCCACAAGAG 0.547000 6 5 0 0 0.001984 0 0 KALRN 8997 broad.mit.edu 37 3 124369736 124369736 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr3:124369736C>T ENST00000360013.3 + 38 5870 c.5743C>T c.(5743-5745)Cct>Tct p.P1915S KALRN_ENST00000291478.4_Missense_Mutation_p.P218S|KALRN_ENST00000459915.1_Missense_Mutation_p.P7S|KALRN_ENST00000428018.2_Missense_Mutation_p.P186S|KALRN_ENST00000393496.1_Missense_Mutation_p.P256S NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1914 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 ACCCACACCTCCTAAAAACCC 0.542000 23 55 0 0 0.003954 0 0 APLP2 334 broad.mit.edu 37 11 130005458 130005458 + Splice_Site SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr11:130005458A>G ENST00000263574.5 + 13 1757 c.1684_splice c.e13-1 p.D562_splice APLP2_ENST00000345598.5_Splice_Site_p.D333_splice|APLP2_ENST00000528499.1_Splice_Site_p.D506_splice|APLP2_ENST00000278756.7_Splice_Site_p.D572_splice|APLP2_ENST00000338167.5_Splice_Site_p.D562_splice|APLP2_ENST00000543137.1_Splice_Site_p.D469_splice|APLP2_ENST00000539648.1_Splice_Site_p.D350_splice NM_001642.2 NP_001633.1 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 562 G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) TCTTCATCAGATGAGCTCCTT 0.587000 45 83 0 0 0.014410 0 0 LRG1 116844 broad.mit.edu 37 19 4538051 4538051 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr19:4538051C>T ENST00000306390.6 - 2 1405 c.945G>A c.(943-945)caG>caA p.Q315Q CTB-50L17.14_ENST00000586020.1_Intron NM_052972.2 NP_443204.1 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 315 LRRCT. extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CTTTTTGGGCCTGAAGCCAAC 0.592000 40 35 0 0 0.005524 0 0 AIDA 64853 broad.mit.edu 37 1 222843263 222843263 + Missense_Mutation SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr1:222843263T>C ENST00000340020.6 - 10 1099 c.893A>G c.(892-894)cAt>cGt p.H298R AIDA_ENST00000355727.2_Missense_Mutation_p.H216R|AIDA_ENST00000541237.1_Missense_Mutation_p.H274R|AIDA_ENST00000474863.1_5'UTR NM_022831.2 NP_073742.2 Q96BJ3 AIDA_HUMAN axin interactor, dorsalization associated 298 dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 10 TTGATGTAGATGAAGATAAAG 0.353000 18 31 0 0 0.003330 0 0 CELSR1 9620 broad.mit.edu 37 22 46931727 46931727 + Silent SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr22:46931727G>T ENST00000262738.3 - 1 1340 c.1341C>A c.(1339-1341)atC>atA p.I447I CELSR1_ENST00000395964.1_Silent_p.I447I NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 447 Cadherin 2. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCTCCACCTCGATGTACACGG 0.667000 16 35 1.52009e-12 1.76077e-12 0.003163 1 0 NARG2 79664 broad.mit.edu 37 15 60741642 60741642 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr15:60741642C>G ENST00000261520.4 - 10 1758 c.1524G>C c.(1522-1524)ttG>ttC p.L508F NARG2_ENST00000439632.1_Missense_Mutation_p.L371F NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 508 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 CAGATGTTTTCAAGTCACTAT 0.333000 28 51 0 0 0.009535 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135851202 135851202 + Missense_Mutation SNP A A T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr2:135851202A>T ENST00000264158.8 + 5 344 c.301A>T c.(301-303)Atg>Ttg p.M101L RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.M57L|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.M101L NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 101 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) TCCACAATCTATGCAAGATTT 0.348000 21 39 0 0 0.010504 0 0 MARCH10 162333 broad.mit.edu 37 17 60821758 60821758 + Missense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr17:60821758C>A ENST00000544856.2 - 6 889 c.511G>T c.(511-513)Gtg>Ttg p.V171L MARCH10_ENST00000311269.5_Missense_Mutation_p.V172L|MARCH10_ENST00000583600.1_Missense_Mutation_p.V210L|MARCH10_ENST00000456609.2_Missense_Mutation_p.V172L Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 172 ligase activity|zinc ion binding p.V172L(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 GGAACCGGCACCTTTGCAGGC 0.557000 52 96 3.89483e-19 4.79098e-19 0.014410 1 0 LCORL 254251 broad.mit.edu 37 4 17910776 17910776 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr4:17910776T>A ENST00000382226.5 - 5 731 c.623A>T c.(622-624)gAg>gTg p.E208V LCORL_ENST00000326877.3_Missense_Mutation_p.E208V|LCORL_ENST00000382224.1_Missense_Mutation_p.E124V|LCORL_ENST00000539056.1_Missense_Mutation_p.E121V NM_001166139.1 NP_001159611.1 Q8N3X6 LCORL_HUMAN ligand dependent nuclear receptor corepressor-like 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(1)|lung(1)|prostate(1) 4 GCCTTCCTGCTCTTCCTGAAG 0.348000 28 42 0 0 0.008361 0 0 CD34 947 broad.mit.edu 37 1 208072364 208072364 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr1:208072364G>A ENST00000356522.4 - 3 791 c.470C>T c.(469-471)cCc>cTc p.P157L CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Intron|CD34_ENST00000310833.7_Missense_Mutation_p.P157L NM_001773.2 NP_001764.1 P28906 CD34_HUMAN CD34 molecule 157 cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding p.P157H(1) kidney(2)|large_intestine(2)|lung(8)|ovary(1) 13 GGGTTTAGTGGGAGATGTTGC 0.468000 78 185 0 0 0.014410 0 0 PPAN 56342 broad.mit.edu 37 19 10225320 10225320 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr19:10225320C>G ENST00000556468.1 + 13 2318 c.2291C>G c.(2290-2292)cCa>cGa p.P764R PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.P764R|PPAN-P2RY11_ENST00000428358.1_3'UTR|P2RY11_ENST00000321826.4_Missense_Mutation_p.P344R peter pan homolog (Drosophila) endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) AGCTGGAACCCAGAGGACGCC 0.657000 14 50 0 0 0.001855 0 0 GGNBP2 79893 broad.mit.edu 37 17 34943490 34943490 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr17:34943490C>T ENST00000304718.4 + 13 2021 c.1705C>T c.(1705-1707)Cac>Tac p.H569Y NM_024835.3 NP_079111.1 Q9H3C7 GGNB2_HUMAN gametogenetin binding protein 2 569 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 38 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) AAATACCATGCACACAGTGTT 0.463000 14 64 0 0 0.002450 0 0 PDGFRB 5159 broad.mit.edu 37 5 149503837 149503837 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr5:149503837G>T ENST00000261799.4 - 14 2468 c.1999C>A c.(1999-2001)Ctg>Atg p.L667M NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 667 Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GCCCCCAACAGGTTGACCACG 0.632000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 19 22 4.35082e-09 4.89687e-09 0.010504 1 0 AGO1 26523 broad.mit.edu 37 1 36372612 36372612 + Missense_Mutation SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr1:36372612T>G ENST00000373204.4 + 12 1687 c.1474T>G c.(1474-1476)Tat>Gat p.Y492D AGO1_ENST00000373206.1_Missense_Mutation_p.Y417D NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 TTTCTGCAAATATGCACAGGG 0.537000 37 52 0 0 0.006999 0 0 DNAH5 1767 broad.mit.edu 37 5 13928288 13928288 + Splice_Site SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr5:13928288C>A ENST00000265104.4 - 3 297 c.e3-1 NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity 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) TTCTTTCAATCTGGGAAAAAG 0.318000 Kartagener syndrome 23 72 3.5997e-14 4.25837e-14 0.014323 1 0 ACAP1 9744 broad.mit.edu 37 17 7251469 7251469 + Silent SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr17:7251469C>G ENST00000158762.3 + 16 1643 c.1437C>G c.(1435-1437)gtC>gtG p.V479V NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 479 Arf-GAP.|Required for interaction with GULP1. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 TGGGAAATGTCATCATCAACC 0.617000 7 24 0 0 0.001984 0 0 SPEN 23013 broad.mit.edu 37 1 16254612 16254612 + Missense_Mutation SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr1:16254612A>G ENST00000375759.3 + 11 2081 c.1877A>G c.(1876-1878)tAt>tGt p.Y626C NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 626 Arg-rich.|Tyr-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TCCTACGACTATAACCAAGAT 0.398000 19 24 0 0 0.007413 0 0 RCOR1 23186 broad.mit.edu 37 14 103148296 103148296 + Silent SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr14:103148296A>G ENST00000262241.6 + 3 652 c.426A>G c.(424-426)caA>caG p.Q142Q RCOR1_ENST00000570597.1_Silent_p.Q139Q NM_015156.3 NP_055971.2 Q9UKL0 RCOR1_HUMAN REST corepressor 1 139 ELM2.|Interaction with HDAC1. blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 12 CACCCAATCAAAATCTGTCAG 0.373000 13 18 0 0 0.003163 0 0 SLC27A6 28965 broad.mit.edu 37 5 128302163 128302163 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr5:128302163G>A ENST00000262462.4 + 1 1343 c.333G>A c.(331-333)ctG>ctA p.L111L SLC27A6_ENST00000506176.1_Silent_p.L111L|SLC27A6_ENST00000395266.1_Silent_p.L111L Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 111 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TGGCTCTGCTGATGAGCAATG 0.552000 13 10 0 0 0.013537 0 0 CUX2 23316 broad.mit.edu 37 12 111746236 111746236 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr12:111746236G>A ENST00000261726.6 + 14 1318 c.1164G>A c.(1162-1164)atG>atA p.M388I NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 388 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 CCTAGGGCATGGCCAAGCCTG 0.612000 18 27 0 0 0.006122 0 0 ZNF521 25925 broad.mit.edu 37 18 22807174 22807174 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr18:22807174C>T ENST00000361524.3 - 4 856 c.708G>A c.(706-708)agG>agA p.R236R ZNF521_ENST00000584787.1_Silent_p.R16R|ZNF521_ENST00000538137.2_Silent_p.R236R NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 236 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AGTCCTCCATCCTGGAACCGG 0.522000 T PAX5 ALL 13 67 0 0 0.001855 0 0 PRPSAP2 5636 broad.mit.edu 37 17 18833957 18833957 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr17:18833957C>T ENST00000268835.2 + 12 1339 c.1056C>T c.(1054-1056)atC>atT p.I352I PRPSAP2_ENST00000536323.1_Silent_p.I266I|PRPSAP2_ENST00000542013.1_Silent_p.I303I|PRPSAP2_ENST00000419071.2_Silent_p.I312I NM_002767.3 NP_002758.1 O60256 KPRB_HUMAN phosphoribosyl pyrophosphate synthetase-associated protein 2 352 nucleotide biosynthetic process enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 TCCGTCGGATCCACAATGGGG 0.458000 12 23 0 0 0.013537 0 0 TMEM67 91147 broad.mit.edu 37 8 94821068 94821068 + Splice_Site SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr8:94821068G>A ENST00000453321.3 + 24 2498 c.2439_splice c.e24-1 p.E814_splice TMEM67_ENST00000409623.3_Splice_Site_p.E733_splice NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 814 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) AACTTTTCAGGAAAATTTGTG 0.308000 4 18 0 0 0.000602 0 0 SYK 6850 broad.mit.edu 37 9 93650843 93650843 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr9:93650843G>A ENST00000375754.4 + 13 1917 c.1769G>A c.(1768-1770)cGg>cAg p.R590Q SYK_ENST00000375746.1_Missense_Mutation_p.R590Q|SYK_ENST00000375751.4_Missense_Mutation_p.R567Q|SYK_ENST00000375747.1_Missense_Mutation_p.R567Q NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 590 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 AAAGGAGAGCGGATGGGGTGC 0.438000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 6 16 0 0 0.001984 0 0 FAM189B 10712 broad.mit.edu 37 1 155223908 155223908 + Silent SNP A A T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr1:155223908A>T ENST00000361361.2 - 3 869 c.360T>A c.(358-360)gcT>gcA p.A120A FAM189B_ENST00000472550.1_Intron|FAM189B_ENST00000350210.2_Intron|FAM189B_ENST00000368368.3_Silent_p.A101A NM_006589.2 NP_006580.2 P81408 F189B_HUMAN family with sequence similarity 189, member B 120 integral to membrane WW domain binding breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 GGGCCAGTTGAGCATTCTTAC 0.532000 83 111 0 0 0.014410 0 0 SEZ6 124925 broad.mit.edu 37 17 27283247 27283247 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr17:27283247C>G ENST00000317338.12 - 16 3310 c.2882G>C c.(2881-2883)cGc>cCc p.R961P PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.R961P|SEZ6_ENST00000442608.3_Missense_Mutation_p.R948P|SEZ6_ENST00000335960.6_Silent_p.P493P Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 961 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) ggggcgggggcggggCAGCTG 0.582000 3 13 0 0 0.004672 0 0 GPR75 10936 broad.mit.edu 37 2 54080317 54080317 + Missense_Mutation SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr2:54080317T>C ENST00000394705.2 - 2 1847 c.1577A>G c.(1576-1578)gAa>gGa p.E526G ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron NM_006794.3 NP_006785.1 O95800 GPR75_HUMAN G protein-coupled receptor 75 526 integral to plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GCTGTCATATTCCTGCACTAA 0.408000 29 70 0 0 0.008361 0 0 NUTM1 256646 broad.mit.edu 37 15 34640628 34640628 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr15:34640628C>T ENST00000537011.1 + 3 941 c.559C>T c.(559-561)Ccg>Tcg p.P187S NUTM1_ENST00000333756.4_Missense_Mutation_p.P159S|NUTM1_ENST00000438749.3_Missense_Mutation_p.P177S NUT midline carcinoma, family member 1 TCCAGGCCTTCCGCCTCAGCC 0.587000 11 28 0 0 0.008291 0 0 GULP1 51454 broad.mit.edu 37 2 189458684 189458684 + Missense_Mutation SNP A A T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr2:189458684A>T ENST00000409843.1 + 13 1541 c.872A>T c.(871-873)gAc>gTc p.D291V GULP1_ENST00000359135.3_Silent_p.G287G|GULP1_ENST00000409805.1_Silent_p.G184G|GULP1_ENST00000409580.1_Silent_p.G287G|GULP1_ENST00000409830.1_Silent_p.G287G|GULP1_ENST00000409609.1_Silent_p.G287G NM_001252668.1|NM_016315.3 NP_001239597.1|NP_057399.1 Q9UBP9 GULP1_HUMAN GULP, engulfment adaptor PTB domain containing 1 0 apoptosis|lipid transport|phagocytosis, engulfment cytoplasm|intracellular membrane-bounded organelle signal transducer activity endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158) TCAAAATGGGACTAACTCTTG 0.338000 9 26 0 0 0.008291 0 0 ANKRD26 22852 broad.mit.edu 37 10 27366291 27366291 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr10:27366291C>T ENST00000376087.4 - 9 1218 c.1053G>A c.(1051-1053)tcG>tcA p.S351S ANKRD26_ENST00000436985.2_Silent_p.S400S|ANKRD26_ENST00000466890.1_5'UTR NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 351 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 GGTTTGCTAACGACTTGTGGG 0.403000 38 58 0 0 0.006999 0 0 RNF10 9921 broad.mit.edu 37 12 121000765 121000765 + Silent SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr12:121000765G>T ENST00000325954.4 + 8 1607 c.1146G>T c.(1144-1146)ctG>ctT p.L382L RNF10_ENST00000413266.2_Silent_p.L382L NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 382 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AAGAGGCTCTGTCGGGATTGG 0.537000 30 48 6.00712e-18 7.32447e-18 0.012213 1 0 OR11H4 390442 broad.mit.edu 37 14 20711094 20711094 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr14:20711094C>T ENST00000315409.2 + 1 197 c.144C>T c.(142-144)acC>acT p.T48T NM_001004479.1 NP_001004479.1 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, member 4 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 29 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) ATGTCTTGACCTTGCTGGGAA 0.443000 30 60 0 0 0.006320 0 0 HTR7 3363 broad.mit.edu 37 10 92509226 92509226 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr10:92509226G>C ENST00000371721.3 - 2 907 c.665C>G c.(664-666)gCt>gGt p.A222G HTR7_ENST00000371719.2_Missense_Mutation_p.A222G|HTR7_ENST00000277874.6_Missense_Mutation_p.A222G|HTR7_ENST00000336152.3_Missense_Mutation_p.A222G P34969 5HT7R_HUMAN 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled 222 blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) TACATTCTGAGCCCATCCAAA 0.483000 40 58 0 0 0.009718 0 0 TRPM7 54822 broad.mit.edu 37 15 50906378 50906378 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr15:50906378C>T ENST00000313478.7 - 14 1858 c.1577G>A c.(1576-1578)tGc>tAc p.C526Y TRPM7_ENST00000560955.1_Missense_Mutation_p.C526Y NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 526 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) AGTATAGGTGCATCTGTAGGT 0.328000 19 39 0 0 0.008871 0 0 COL6A3 1293 broad.mit.edu 37 2 238287849 238287849 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr2:238287849G>C ENST00000295550.4 - 6 2379 c.1927C>G c.(1927-1929)Ctt>Gtt p.L643V COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Missense_Mutation_p.L437V|COL6A3_ENST00000392003.2_Missense_Mutation_p.L236V|COL6A3_ENST00000353578.4_Missense_Mutation_p.L437V|COL6A3_ENST00000347401.3_Missense_Mutation_p.L442V|COL6A3_ENST00000392004.3_Missense_Mutation_p.L437V NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 643 Nonhelical region.|VWFA 4. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCATCCAAAAGAAAGATGATA 0.388000 11 24 0 0 0.008291 0 0 GPC6 10082 broad.mit.edu 37 13 95055462 95055462 + Silent SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr13:95055462G>T ENST00000377047.4 + 9 2274 c.1659G>T c.(1657-1659)ctG>ctT p.L553L NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 553 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) TGCAGAGACTGTGCAGATAAT 0.517000 6 41 8.12818e-05 8.6909e-05 0.001984 1 0 SYNCRIP 10492 broad.mit.edu 37 6 86324795 86324795 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr6:86324795G>A ENST00000503906.1 - 1 157 c.158C>T c.(157-159)cCc>cTc p.P53L SYNCRIP_ENST00000355238.6_Silent_p.P517P|SYNCRIP_ENST00000369622.3_Silent_p.P517P CTCTACCGCGGGGAGGAGCAG 0.577000 85 45 0 0 0.014410 0 0 STAG1 10274 broad.mit.edu 37 3 136141433 136141433 + Missense_Mutation SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr3:136141433T>C ENST00000383202.2 - 19 2112 c.1856A>G c.(1855-1857)cAg>cGg p.Q619R STAG1_ENST00000536929.1_Missense_Mutation_p.Q203R|STAG1_ENST00000236698.5_Missense_Mutation_p.Q619R|STAG1_ENST00000434713.2_Missense_Mutation_p.Q393R NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 619 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 AAACTTAATCTGTTTTAATAA 0.308000 21 52 0 0 0.008871 0 0 CDX1 1044 broad.mit.edu 37 5 149562339 149562339 + Silent SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr5:149562339C>A ENST00000231656.8 + 2 536 c.454C>A c.(454-456)Cgg>Agg p.R152R NM_001804.2 NP_001795.2 P47902 CDX1_HUMAN caudal type homeobox 1 152 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|lung(1)|ovary(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGGTAAGACTCGGACCAAGGA 0.557000 97 73 9.72315e-31 1.21758e-30 0.014410 1 0 CSGALNACT2 55454 broad.mit.edu 37 10 43650762 43650762 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr10:43650762G>A ENST00000374466.3 + 2 500 c.165G>A c.(163-165)gaG>gaA p.E55E CSGALNACT2_ENST00000374464.1_Silent_p.E55E NM_018590.3 NP_061060.3 Q8N6G5 CGAT2_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 2 55 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 ATGGTAAAGAGTATTATCAAG 0.418000 15 44 0 0 0.003163 0 0 DOCK8 81704 broad.mit.edu 37 9 289552 289552 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr9:289552C>T ENST00000432829.2 + 4 487 c.171C>T c.(169-171)taC>taT p.Y57Y DOCK8_ENST00000453981.1_Silent_p.Y125Y|DOCK8_ENST00000469391.1_Silent_p.Y57Y NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 125 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) TTCAGACCTACATCCGTGAGT 0.333000 9 47 0 0 0.013537 0 0 MCF2L2 23101 broad.mit.edu 37 3 182897459 182897459 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr3:182897459C>T ENST00000328913.3 - 29 3424 c.3127G>A c.(3127-3129)Gac>Aac p.D1043N MCF2L2_ENST00000473233.1_Missense_Mutation_p.D1043N NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 1043 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TGACTGTCGTCCGACTGGAAA 0.587000 85 82 0 0 0.014410 0 0 MYEOV2 150678 broad.mit.edu 37 2 241069334 241069334 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr2:241069334C>T ENST00000307266.3 - 4 374 c.375G>A c.(373-375)tcG>tcA p.S125S NM_138336.1 NP_612209.1 Q8WXC6 MYOV2_HUMAN myeloma overexpressed 2 0 breast(1)|lung(5)|pancreas(1) 7 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) TTACCTCTTCCGACACCACAG 0.617000 34 65 0 0 0.006230 0 0 NAV2 89797 broad.mit.edu 37 11 20083856 20083856 + Missense_Mutation SNP A A G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr11:20083856A>G ENST00000396085.1 + 20 5196 c.4835A>G c.(4834-4836)cAt>cGt p.H1612R NAV2_ENST00000540292.1_Missense_Mutation_p.H1599R|NAV2_ENST00000527559.2_Missense_Mutation_p.H1597R|NAV2_ENST00000396087.3_Missense_Mutation_p.H1668R|NAV2_ENST00000360655.4_Missense_Mutation_p.H1548R|NAV2_ENST00000533917.1_Missense_Mutation_p.H676R|NAV2_ENST00000349880.4_Missense_Mutation_p.H1612R|NAV2_ENST00000311043.8_Missense_Mutation_p.H676R NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1668 Ser-rich. nucleus ATP binding|helicase activity 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 TTAATAGTTCATGGATCCTCA 0.423000 11 50 0 0 0.013537 0 0 TRPM7 54822 broad.mit.edu 37 15 50906377 50906377 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr15:50906377G>A ENST00000313478.7 - 14 1859 c.1578C>T c.(1576-1578)tgC>tgT p.C526C TRPM7_ENST00000560955.1_Silent_p.C526C NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 526 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TAGTATAGGTGCATCTGTAGG 0.323000 18 38 0 0 0.007413 0 0 APLP1 333 broad.mit.edu 37 19 36368688 36368688 + Missense_Mutation SNP G G A rs142258705 TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr19:36368688G>A ENST00000221891.4 + 12 1705 c.1513G>A c.(1513-1515)Gag>Aag p.E505K APLP1_ENST00000586861.1_Missense_Mutation_p.E499K|APLP1_ENST00000537454.2_Missense_Mutation_p.E466K|APLP1_ENST00000589298.2_3'UTR NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 505 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGGCAGCAGCGAGGACAAGGG 0.582000 17 44 0 0 0.006122 0 0 EYS 346007 broad.mit.edu 37 6 66205124 66205124 + Missense_Mutation SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr6:66205124C>A ENST00000503581.1 - 4 717 c.180G>T c.(178-180)ttG>ttT p.L60F EYS_ENST00000342421.5_Missense_Mutation_p.L60F|EYS_ENST00000393380.2_Missense_Mutation_p.L60F|EYS_ENST00000370616.2_Missense_Mutation_p.L60F|EYS_ENST00000370618.3_Missense_Mutation_p.L60F|EYS_ENST00000370621.3_Missense_Mutation_p.L60F NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 60 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 TGTTTACACCCAAAAACCAGC 0.388000 15 75 1.3612e-06 1.50763e-06 0.003163 1 0 RYR2 6262 broad.mit.edu 37 1 237802492 237802492 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr1:237802492G>T ENST00000366574.2 + 46 7423 c.7106G>T c.(7105-7107)aGt>aTt p.S2369I RYR2_ENST00000360064.6_Missense_Mutation_p.S2367I|RYR2_ENST00000542537.1_Missense_Mutation_p.S2353I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2369 4 X approximate repeats. 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 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) AGCGGATCCAGTAAAACACTG 0.418000 7 20 2.0095e-06 2.19937e-06 0.001984 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 3 74 0 0 0.001168 0 0 NSD1 64324 broad.mit.edu 37 5 176709523 176709523 + Nonsense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr5:176709523C>T ENST00000439151.2 + 19 5995 c.5950C>T c.(5950-5952)Cga>Tga p.R1984* NSD1_ENST00000361032.4_Nonsense_Mutation_p.R1881*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R1715*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R1715* NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1984 SET. R -> Q (in SOTOSS; loss of enzyme activity). negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) ATGCAGAGCTCGAATTCGCTA 0.373000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 38 28 0 0 0.005524 0 0 MARCH4 57574 broad.mit.edu 37 2 217124378 217124378 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr2:217124378G>A ENST00000273067.4 - 4 2656 c.890C>T c.(889-891)tCg>tTg p.S297L AC012513.6_ENST00000417481.1_RNA NM_020814.2 NP_065865.1 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase 297 Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) GCGGTACACCGAGGGTCCTTC 0.537000 23 25 0 0 0.003954 0 0 RCHY1 25898 broad.mit.edu 37 4 76407873 76407873 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr4:76407873G>C ENST00000324439.5 - 9 1059 c.661C>G c.(661-663)Ctc>Gtc p.L221V RCHY1_ENST00000451788.1_3'UTR|RCHY1_ENST00000512706.1_Missense_Mutation_p.L199V|RCHY1_ENST00000380840.2_Missense_Mutation_p.L181V|RCHY1_ENST00000513257.1_Missense_Mutation_p.L212V NM_001278536.1|NM_001278538.1|NM_001278539.1 NP_001265465.1|NP_001265467.1|NP_001265468.1 Q96PM5 ZN363_HUMAN ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase 221 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nuclear speck|ubiquitin ligase complex electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding p.L221I(1) large_intestine(2)|pancreas(1) 3 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TCATTGCAGAGAATCTGAAAA 0.318000 7 17 0 0 0.001984 0 0 CNTROB 116840 broad.mit.edu 37 17 7839728 7839728 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr17:7839728G>C ENST00000380262.3 + 5 1564 c.639G>C c.(637-639)gaG>gaC p.E213D CNTROB_ENST00000563694.1_Missense_Mutation_p.E213D|CNTROB_ENST00000565740.1_Missense_Mutation_p.E213D|CNTROB_ENST00000380255.3_Missense_Mutation_p.E213D NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 213 centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) GAGTGTTAGAGCTACAGCAAC 0.527000 38 98 0 0 0.006230 0 0 SELPLG 6404 broad.mit.edu 37 12 109017613 109017613 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr12:109017613C>T ENST00000388962.3 - 3 600 c.441G>A c.(439-441)acG>acA p.T147T SELPLG_ENST00000550948.1_Silent_p.T157T|SELPLG_ENST00000228463.6_Silent_p.T173T NM_003006.4 NP_002997.2 Q14242 SELPL_HUMAN selectin P ligand 157 12 X 10 AA tandem repeats. blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1) 12 CCTCCGTGGCCGTCAGTCGAG 0.637000 53 78 0 0 0.014410 0 0 NCBP1 4686 broad.mit.edu 37 9 100403139 100403139 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr9:100403139C>G ENST00000375147.3 + 2 354 c.98C>G c.(97-99)tCt>tGt p.S33C NM_002486.4 NP_002477.1 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 33 MIF4G. gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding p.S33F(1) NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4) 19 Acute lymphoblastic leukemia(62;0.158) CATTTGGAATCTTTAATATGT 0.358000 28 51 0 0 0.007291 0 0 SMARCA1 6594 broad.mit.edu 37 X 128599869 128599869 + Missense_Mutation SNP T T G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chrX:128599869T>G ENST00000371122.4 - 22 2898 c.2769A>C c.(2767-2769)gaA>gaC p.E923D SMARCA1_ENST00000371123.1_Missense_Mutation_p.E911D|SMARCA1_ENST00000371121.3_Missense_Mutation_p.E911D NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 923 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 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 GAATTCTTGCTTCTCCACGTT 0.333000 29 21 0 0 0.007291 0 0 COL14A1 7373 broad.mit.edu 37 8 121256222 121256222 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr8:121256222C>T ENST00000297848.3 + 20 2724 c.2454C>T c.(2452-2454)gtC>gtT p.V818V COL14A1_ENST00000309791.4_Silent_p.V818V|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.V723V NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 818 Fibronectin type-III 6. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging 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) GCGAAGGCGTCAGCGTCTCCG 0.498000 15 153 0 0 0.003163 0 0 PCDHGC3 5098 broad.mit.edu 37 5 140857945 140857945 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr5:140857945G>A ENST00000308177.3 + 1 2366 c.2262G>A c.(2260-2262)ccG>ccA p.P754P PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATGTCGCCGCACCTTTACC 0.642000 OREG0016865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 37 0 0 0.014410 0 0 CTSA 5476 broad.mit.edu 37 20 44519983 44519983 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr20:44519983G>C ENST00000372484.3 + 1 301 c.19G>C c.(19-21)Gcg>Ccg p.A7P CTSA_ENST00000354880.5_Missense_Mutation_p.A7P|CTSA_ENST00000191018.5_5'UTR NM_000308.2|NM_001127695.1 NP_000299.2|NP_001121167.1 P10619 PPGB_HUMAN cathepsin A 0 intracellular protein transport|proteolysis endoplasmic reticulum|lysosome|nucleus enzyme activator activity|protein binding|serine-type carboxypeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) CAGTCCCCGGGCGCCTCCTGG 0.692000 4 2 0 0 0.001168 0 0 GPR98 84059 broad.mit.edu 37 5 90106737 90106737 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr5:90106737C>T ENST00000405460.2 + 74 15756 c.15660C>T c.(15658-15660)ttC>ttT p.F5220F GPR98_ENST00000425867.2_Silent_p.F881F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5220 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATGGAACATTCAGCCTTGGGC 0.463000 28 32 0 0 0.005443 0 0 TTC16 158248 broad.mit.edu 37 9 130482360 130482360 + Nonsense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr9:130482360C>T ENST00000373289.3 + 5 510 c.430C>T c.(430-432)Caa>Taa p.Q144* PTRH1_ENST00000419060.1_Intron|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000393748.4_5'UTR NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 144 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 TCCCCAGGGACAATGCCTTTT 0.577000 45 51 0 0 0.010771 0 0 EPHA6 285220 broad.mit.edu 37 3 97439174 97439174 + Missense_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr3:97439174G>C ENST00000389672.5 + 15 2892 c.2854G>C c.(2854-2856)Gat>Cat p.D952H NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 857 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CTCAGCAAGCGATGCATGGAG 0.463000 45 60 0 0 0.014410 0 0 FAT1 2195 broad.mit.edu 37 4 187538253 187538253 + Missense_Mutation SNP A A C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr4:187538253A>C ENST00000441802.2 - 11 9190 c.8981T>G c.(8980-8982)cTt>cGt p.L2994R NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2994 Cadherin 27. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CGTGATAGTAAGAAGGTAATT 0.413000 HNSCC(5;0.00058) 13 23 0 0 0.013537 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890016 23890016 + Nonsense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr15:23890016C>T ENST00000532292.1 - 1 1159 c.1065G>A c.(1063-1065)tgG>tgA p.W355* NM_019066.4 NP_061939.3 MAGE-like 2 p.W387L(1) breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) TGGGCCCTTCCCAGCCACTCA 0.672000 19 29 0 0 0.006122 0 0 DPYD 1806 broad.mit.edu 37 1 97915726 97915726 + Silent SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr1:97915726G>C ENST00000370192.3 - 14 1894 c.1794C>G c.(1792-1794)ccC>ccG p.P598P NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 598 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) GGCCATACATGGGGCCAGAGG 0.448000 28 52 0 0 0.005443 0 0 ULBP2 80328 broad.mit.edu 37 6 150263229 150263229 + Silent SNP C C A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr6:150263229C>A ENST00000367351.3 + 1 94 c.21C>A c.(19-21)acC>acA p.T7T NM_025217.2 NP_079493.1 Q9BZM5 N2DL2_HUMAN UL16 binding protein 2 7 antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response anchored to membrane|cell surface|extracellular space|MHC class I protein complex MHC class I receptor activity breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) CCGCCGCTACCAAGATCCTTC 0.607000 18 7 1.33834e-09 1.5186e-09 0.007413 1 0 ARHGEF7 8874 broad.mit.edu 37 13 111919973 111919973 + Silent SNP T T C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr13:111919973T>C ENST00000375741.2 + 10 1342 c.1092T>C c.(1090-1092)taT>taC p.Y364Y ARHGEF7_ENST00000375739.2_Silent_p.Y314Y|ARHGEF7_ENST00000426073.2_Silent_p.Y186Y|ARHGEF7_ENST00000370623.3_Silent_p.Y271Y|ARHGEF7_ENST00000218789.5_Silent_p.Y186Y|ARHGEF7_ENST00000544132.1_Silent_p.L67L|ARHGEF7_ENST00000317133.5_Silent_p.Y343Y|ARHGEF7_ENST00000375737.5_Silent_p.Y261Y|ARHGEF7_ENST00000375736.4_Silent_p.Y186Y|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000478679.1_Silent_p.Y108Y|ARHGEF7_ENST00000375723.1_Silent_p.Y186Y NM_001113511.1|NM_145735.2 NP_001106983.1|NP_663788.1 Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 364 DH. apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) ACCTCACGTATTGTGCCAATC 0.532000 30 60 0 0 0.006320 0 0 GPC4 2239 broad.mit.edu 37 X 132438794 132438794 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chrX:132438794G>A ENST00000370828.3 - 7 1775 c.1251C>T c.(1249-1251)aaC>aaT p.N417N GPC4_ENST00000535467.1_Silent_p.N347N NM_001448.2 NP_001439.2 O75487 GPC4_HUMAN glypican 4 417 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) CCTCATTGCCGTTTCCTGCAG 0.468000 74 35 0 0 0.014410 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110461669 110461669 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr8:110461669T>A ENST00000378402.5 + 40 6232 c.6128T>A c.(6127-6129)cTt>cAt p.L2043H NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2043 IPT/TIG 13. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTGACAGGCTTAGATCTGAT 0.353000 HNSCC(38;0.096) 5 5 0 0 0.001984 0 0 FBXL19 54620 broad.mit.edu 37 16 30958233 30958233 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr16:30958233C>G ENST00000338343.4 + 10 2197 c.1810C>G c.(1810-1812)Cca>Gca p.P604A FBXL19_ENST00000565690.1_Missense_Mutation_p.P488A|FBXL19_ENST00000471231.2_Missense_Mutation_p.P312A|FBXL19_ENST00000380310.2_Missense_Mutation_p.P624A|FBXL19_ENST00000562319.1_Missense_Mutation_p.P604A Q6PCT2 FXL19_HUMAN F-box and leucine-rich repeat protein 19 624 DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 CCCCACGTCCCCACTCCGCGA 0.682000 5 14 0 0 0.001168 0 0 WDR66 144406 broad.mit.edu 37 12 122361573 122361573 + Missense_Mutation SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr12:122361573G>A ENST00000288912.4 + 3 1278 c.424G>A c.(424-426)Gat>Aat p.D142N WDR66_ENST00000397454.2_Missense_Mutation_p.D142N NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 142 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) ACAATTGGAGGATGCAGAAAC 0.363000 23 61 0 0 0.003330 0 0 SORL1 6653 broad.mit.edu 37 11 121444948 121444948 + Splice_Site SNP A A T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr11:121444948A>T ENST00000260197.7 + 24 3466 c.e24-1 SORL1_ENST00000525532.1_Splice_Site NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) ATCCCATTTTAGCTACCACCA 0.418000 52 107 0 0 0.014410 0 0 PLEKHH3 79990 broad.mit.edu 37 17 40823110 40823110 + Silent SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr17:40823110C>G ENST00000293349.6 - 9 1753 c.1323G>C c.(1321-1323)cgG>cgC p.R441R PLEKHH3_ENST00000591022.1_Silent_p.R441R|PLEKHH3_ENST00000412503.1_Silent_p.R441R|PLEKHH3_ENST00000456950.2_5'UTR Q7Z736 PKHH3_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 441 FERM. signal transduction cytoskeleton endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2) 13 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.14) CGTTGCGGCTCCGGGCCAAGC 0.667000 33 56 0 0 0.013726 0 0 UBE4A 9354 broad.mit.edu 37 11 118267059 118267059 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr11:118267059C>T ENST00000252108.3 + 20 3236 c.3105C>T c.(3103-3105)ccC>ccT p.P1035P UBE4A_ENST00000431736.2_Silent_p.P1042P|UBE4A_ENST00000545354.1_Silent_p.P507P NM_001204077.1|NM_004788.3 NP_001191006.1|NP_004779.2 Q14139 UBE4A_HUMAN ubiquitination factor E4A 1035 U-box. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) ACCGTAGTCCCCTCACCATGG 0.423000 22 41 0 0 0.003330 0 0 GRAP2 9402 broad.mit.edu 37 22 40364132 40364132 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr22:40364132G>T ENST00000344138.4 + 6 809 c.546G>T c.(544-546)atG>atT p.M182I GRAP2_ENST00000544756.1_Missense_Mutation_p.M110I|GRAP2_ENST00000543252.1_Missense_Mutation_p.M142I|GRAP2_ENST00000540310.1_Missense_Mutation_p.M116I|GRAP2_ENST00000407075.3_Missense_Mutation_p.M182I|GRAP2_ENST00000399090.2_Missense_Mutation_p.M69I NM_004810.2 NP_004801.1 O75791 GRAP2_HUMAN GRB2-related adaptor protein 2 182 cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway cytosol SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 GACCTTCGATGAACCGGAAGC 0.657000 8 10 0.00448238 0.00473803 0.004482 1 0 KRT78 196374 broad.mit.edu 37 12 53241878 53241878 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr12:53241878C>T ENST00000359499.4 - 2 93 c.82G>A c.(82-84)Gtc>Atc p.V28I KRT78_ENST00000304620.4_Missense_Mutation_p.V138I Q8N1N4 K2C78_HUMAN keratin 78 138 Gly-rich.|Head. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 GTCTCCAGGACCTTGTTCTGC 0.597000 11 32 0 0 0.008291 0 0 OR5D16 390144 broad.mit.edu 37 11 55606573 55606573 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr11:55606573C>G ENST00000378396.1 + 1 346 c.346C>G c.(346-348)Cta>Gta p.L116V NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) TGAATTAATTCTATTTGCGGT 0.438000 47 84 0 0 0.011902 0 0 MMP21 118856 broad.mit.edu 37 10 127462419 127462419 + Silent SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr10:127462419G>T ENST00000368808.3 - 2 677 c.678C>A c.(676-678)atC>atA p.I226I NM_147191.1 NP_671724.1 Q8N119 MMP21_HUMAN matrix metallopeptidase 21 226 proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 16 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AGCCCAGCTTGATGTCGACCG 0.726000 23 40 1.75199e-13 2.04644e-13 0.007291 1 0 MYO16 23026 broad.mit.edu 37 13 109475526 109475526 + Missense_Mutation SNP T T A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr13:109475526T>A ENST00000356711.2 + 9 1057 c.931T>A c.(931-933)Tgg>Agg p.W311R MYO16_ENST00000357550.2_Missense_Mutation_p.W311R|MYO16_ENST00000251041.5_Missense_Mutation_p.W311R NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 311 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CGAAATTGCCTGGGAAGAAAA 0.393000 48 141 0 0 0.014410 0 0 NR2F1 7025 broad.mit.edu 37 5 92923999 92923999 + Silent SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr5:92923999C>T ENST00000327111.3 + 2 2527 c.840C>T c.(838-840)gcC>gcT p.A280A NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 280 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) TGGCCGCCGCCGGCCTGCATG 0.667000 25 23 0 0 0.004656 0 0 HIST1H3H 8357 broad.mit.edu 37 6 27778004 27778004 + Silent SNP G G A TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr6:27778004G>A ENST00000369163.2 + 1 163 c.153G>A c.(151-153)gaG>gaA p.E51E NM_003536.2 NP_003527.1 P68431 H31_HUMAN histone cluster 1, H3h 51 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3) 10 CTCTCCGCGAGATTCGCCGCT 0.627000 29 53 0 0 0.006320 0 0 DOCK9 23348 broad.mit.edu 37 13 99566619 99566619 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr13:99566619C>T ENST00000376460.1 - 9 1003 c.923G>A c.(922-924)gGt>gAt p.G308D DOCK9_ENST00000448493.2_Missense_Mutation_p.G320D|DOCK9_ENST00000339416.2_Missense_Mutation_p.G309D|DOCK9_ENST00000442173.1_Missense_Mutation_p.G308D NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 309 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TAAACCGGAACCAGAACCTTC 0.393000 5 13 0 0 0.000602 0 0 PRDM14 63978 broad.mit.edu 37 8 70978695 70978695 + Missense_Mutation SNP C C T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr8:70978695C>T ENST00000276594.2 - 5 1159 c.958G>A c.(958-960)Ggt>Agt p.G320S NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 320 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) TTCCCCGTACCTCCTTTTCCA 0.408000 36 50 0 0 0.006230 0 0 C1orf168 199920 broad.mit.edu 37 1 57257988 57257988 + Silent SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr1:57257988G>T ENST00000343433.6 - 2 578 c.498C>A c.(496-498)gcC>gcA p.A166A C1orf168_ENST00000484327.1_5'UTR NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 166 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 CCAGATGGATGGCCTTACTTC 0.483000 37 62 1.836e-18 2.2485e-18 0.003755 1 0 OTOF 9381 broad.mit.edu 37 2 26702480 26702480 + Silent SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr2:26702480G>T ENST00000272371.2 - 17 2080 c.1954C>A c.(1954-1956)Cgg>Agg p.R652R OTOF_ENST00000403946.3_Silent_p.R652R NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 652 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCCGAGGCCGCTGGGGCCGG 0.642000 22 38 2.44723e-14 2.90739e-14 0.004656 1 0 SMG7 9887 broad.mit.edu 37 1 183518407 183518407 + Missense_Mutation SNP G G T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr1:183518407G>T ENST00000367537.3 + 20 3101 c.2906G>T c.(2905-2907)gGa>gTa p.G969V SMG7_ENST00000347615.2_Missense_Mutation_p.G936V|SMG7_ENST00000508461.1_Missense_Mutation_p.G944V|SMG7_ENST00000507469.1_Missense_Mutation_p.G940V|SMG7_ENST00000456731.2_Missense_Mutation_p.G848V|SMG7_ENST00000515829.2_Missense_Mutation_p.G890V Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 936 Ser-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 TCCCTCACCGGATTCTCTCTC 0.403000 18 26 0.000132079 0.000140682 0.008871 1 0 FAM91A3P 729182 broad.mit.edu 37 1 149261363 149261363 + RNA DEL G G - TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr1:149261363delG ENST00000325963.8 + 0 910 tgttcagagtggcagaggaga 0.428 6 5 --- --- --- --- TOP2B 7155 broad.mit.edu 37 3 25665146 25665146 + Frame_Shift_Del DEL T T - TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr3:25665146delT ENST00000435706.2 - 21 2773 c.2572delA c.(2572-2574)ttfs p.I858fs TOP2B_ENST00000264331.4_Frame_Shift_Del_p.I863fs Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 863 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 ATTATAGGAATATACCACTCA 0.398 12 18 --- --- --- --- RP11-473J6.1 0 broad.mit.edu 37 8 35764089 35764089 + RNA DEL C C - TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr8:35764089delC ENST00000523748.1 + 0 366 gctcctgccgcccccactcct 0.557 2 4 --- --- --- --- DENND1A 57706 broad.mit.edu 37 9 126144077 126144077 + Frame_Shift_Del DEL G G - TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr9:126144077delG ENST00000373624.2 - 22 2865 c.2664delC c.(2662-2664)tcfs p.S888fs DENND1A_ENST00000542603.1_Frame_Shift_Del_p.S673fs|DENND1A_ENST00000394219.3_Frame_Shift_Del_p.S899fs|DENND1A_ENST00000473039.1_5'UTR NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 888 Pro-rich. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 TGGAGAGGGCGGAGAGGTTGG 0.682 2 4 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086381 20086382 + RNA INS - - T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr14:20086381_20086382insT ENST00000548261.1 + 0 135 GTCTTACAAGGTAAAAAAAATG 0.312 4 7 --- --- --- --- NIPA2 81614 broad.mit.edu 37 15 23006728 23006729 + Frame_Shift_Ins INS - - G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr15:23006728_23006729insG ENST00000337451.3 - 8 1187_1188 c.575_576insC c.(574-576)tgtfs p.C192fs NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.C173fs|NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.C192fs|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.C192fs|NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.C173fs NM_030922.6 NP_112184.4 Q8N8Q9 NIPA2_HUMAN non imprinted in Prader-Willi/Angelman syndrome 2 192 early endosome|integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353) CACAGGAGACTGAAAACGCGCC 0.520 27 63 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579356 7579359 + Frame_Shift_Del DEL GACG GACG - rs11540654 TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:7579356_7579359delGACG ENST00000420246.2 - 4 460_463 c.328_331delCGTC c.(328-333)tgfs p.RL110fs TP53_ENST00000445888.2_Frame_Shift_Del_p.RL110fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.RL110fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.RL110fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.RL110fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.RL110fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 110 Interaction with HIPK1 (By similarity).|Interaction with WWOX. R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; 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.R110L(36)|p.R110fs*13(11)|p.R110P(9)|p.0?(8)|p.R110C(7)|p.G59fs*23(3)|p.R110H(2)|p.F109_R110delFR(2)|p.Y107fs*38(1)|p.R110fs*18(1)|p.R110fs*39(1)|p.L111fs*10(1)|p.V73fs*9(1)|p.Y107fs*44(1)|p.L111M(1)|p.S33fs*23(1)|p.R110S(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.Y103_L111>L(1)|p.F109_R110insXX(1)|p.G105_T125del21(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) AAGAAGCCCAGACGGAAACCGTAG 0.613 111 """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) 47 34 --- --- --- --- LIMD2 80774 broad.mit.edu 37 17 61776623 61776623 + Frame_Shift_Del DEL G G - TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr17:61776623delG ENST00000259006.3 - 2 194 c.36delC c.(34-36)ccfs p.P12fs LIMD2_ENST00000578993.1_Frame_Shift_Del_p.P12fs|LIMD2_ENST00000578402.1_Frame_Shift_Del_p.P12fs|LIMD2_ENST00000578061.1_Frame_Shift_Del_p.P12fs|LIMD2_ENST00000583211.1_5'UTR NM_030576.3 NP_085053.1 Q9BT23 LIMD2_HUMAN LIM domain containing 2 12 zinc ion binding kidney(1)|lung(2) 3 TTACATGAGAGGGGGTGGCCT 0.682 12 29 --- --- --- --- LENG9 94059 broad.mit.edu 37 19 54973750 54973750 + Frame_Shift_Del DEL T T - TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr19:54973750delT ENST00000333834.4 - 1 1144 c.1026delA c.(1024-1026)gafs p.E342fs NM_198988.1 NP_945339.2 Q96B70 LENG9_HUMAN leukocyte receptor cluster (LRC) member 9 342 RNA metabolic process intracellular catalytic activity|nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5) 11 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.134) GGACCAGGTATTCCTGGGCCT 0.632 40 60 --- --- --- --- SYCP2 10388 broad.mit.edu 37 20 58444989 58444990 + Frame_Shift_Ins INS - - T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 d28213c6-eb6f-4348-aca4-6f384a3b6d71 g.chr20:58444989_58444990insT ENST00000357552.3 - 36 3829_3830 c.3604_3605insA c.(3604-3606)aagfs p.K1202fs SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.K1202fs Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1202 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) CAGAGAACTTATTTTTTTTCTA 0.312 8 37 --- --- --- --- FAM91A3P 729182 broad.mit.edu 37 1 149261363 149261363 + RNA DEL G G - TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr1:149261363delG ENST00000325963.8 + 0 910 tgttcagagtggcagaggaga 0.428 6 5 --- --- --- --- TOP2B 7155 broad.mit.edu 37 3 25665146 25665146 + Frame_Shift_Del DEL T T - TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr3:25665146delT ENST00000435706.2 - 21 2773 c.2572delA c.(2572-2574)ttfs p.I858fs TOP2B_ENST00000264331.4_Frame_Shift_Del_p.I863fs Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 863 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 ATTATAGGAATATACCACTCA 0.398 12 18 --- --- --- --- RP11-473J6.1 0 broad.mit.edu 37 8 35764089 35764089 + RNA DEL C C - TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr8:35764089delC ENST00000523748.1 + 0 366 gctcctgccgcccccactcct 0.557 2 4 --- --- --- --- TSC22D1 8848 broad.mit.edu 37 13 45148691 45148693 + In_Frame_Del DEL TGT TGT - rs148625973 TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr13:45148691_45148693delTGT ENST00000458659.2 - 1 2008_2010 c.1518_1520delACA c.(1516-1521)cag>ca p.QQ508del TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ508del NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 508 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) TGgttgttgctgttgttgttgtt 0.502 8 154 --- --- --- --- NIPA2 81614 broad.mit.edu 37 15 23006728 23006729 + Frame_Shift_Ins INS - - G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr15:23006728_23006729insG ENST00000337451.3 - 8 1187_1188 c.575_576insC c.(574-576)tgtfs p.C192fs NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.C173fs|NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.C173fs|NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.C192fs|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.C192fs NM_030922.6 NP_112184.4 Q8N8Q9 NIPA2_HUMAN non imprinted in Prader-Willi/Angelman syndrome 2 192 early endosome|integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353) CACAGGAGACTGAAAACGCGCC 0.520 27 63 --- --- --- --- MFGE8 4240 broad.mit.edu 37 15 89453067 89453074 + Frame_Shift_Del DEL GTGTACGA GTGTACGA - rs145851768 TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr15:89453067_89453074delGTGTACGA ENST00000539437.1 - 3 266_273 c.130_137delTCGTACAC c.(130-138)cfs p.SYT44fs MFGE8_ENST00000566497.1_Frame_Shift_Del_p.SYT52fs|MFGE8_ENST00000268150.8_Frame_Shift_Del_p.SYT52fs|MFGE8_ENST00000268151.7_Frame_Shift_Del_p.SYT52fs|MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000559997.1_Intron Q08431 MFGM_HUMAN milk fat globule-EGF factor 8 protein 52 EGF-like. angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 22 Lung NSC(78;0.0392)|all_lung(78;0.077) GCACGTGCAGGTGTACGAGGGGAAGACA 0.543 26 85 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579356 7579359 + Frame_Shift_Del DEL GACG GACG - rs11540654 TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr17:7579356_7579359delGACG ENST00000420246.2 - 4 460_463 c.328_331delCGTC c.(328-333)tgfs p.RL110fs TP53_ENST00000413465.2_Frame_Shift_Del_p.RL110fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.RL110fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.RL110fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.RL110fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.RL110fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 110 Interaction with HIPK1 (By similarity).|Interaction with WWOX. R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; 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.R110L(36)|p.R110fs*13(11)|p.R110P(9)|p.0?(8)|p.R110C(7)|p.G59fs*23(3)|p.R110H(2)|p.F109_R110delFR(2)|p.Y107fs*38(1)|p.R110fs*18(1)|p.R110fs*39(1)|p.L111fs*10(1)|p.V73fs*9(1)|p.Y107fs*44(1)|p.L111M(1)|p.S33fs*23(1)|p.R110S(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.Y103_L111>L(1)|p.F109_R110insXX(1)|p.G105_T125del21(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) AAGAAGCCCAGACGGAAACCGTAG 0.613 111 """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) 47 34 --- --- --- --- LIMD2 80774 broad.mit.edu 37 17 61776623 61776623 + Frame_Shift_Del DEL G G - TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr17:61776623delG ENST00000259006.3 - 2 194 c.36delC c.(34-36)ccfs p.P12fs LIMD2_ENST00000578402.1_Frame_Shift_Del_p.P12fs|LIMD2_ENST00000578061.1_Frame_Shift_Del_p.P12fs|LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000578993.1_Frame_Shift_Del_p.P12fs NM_030576.3 NP_085053.1 Q9BT23 LIMD2_HUMAN LIM domain containing 2 12 zinc ion binding kidney(1)|lung(2) 3 TTACATGAGAGGGGGTGGCCT 0.682 12 29 --- --- --- --- LENG9 94059 broad.mit.edu 37 19 54973750 54973750 + Frame_Shift_Del DEL T T - TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr19:54973750delT ENST00000333834.4 - 1 1144 c.1026delA c.(1024-1026)gafs p.E342fs NM_198988.1 NP_945339.2 Q96B70 LENG9_HUMAN leukocyte receptor cluster (LRC) member 9 342 RNA metabolic process intracellular catalytic activity|nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5) 11 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.134) GGACCAGGTATTCCTGGGCCT 0.632 40 60 --- --- --- --- SYCP2 10388 broad.mit.edu 37 20 58444989 58444990 + Frame_Shift_Ins INS - - T TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-11A-01D-2012-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9ccee056-124e-40d5-a07d-c208765d8640 e0a52d9d-41f2-46d3-8c62-df1241806397 g.chr20:58444989_58444990insT ENST00000357552.3 - 36 3829_3830 c.3604_3605insA c.(3604-3606)aagfs p.K1202fs SYCP2_ENST00000371001.2_Frame_Shift_Ins_p.K1202fs Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1202 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) CAGAGAACTTATTTTTTTTCTA 0.312 8 37 --- --- --- ---