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 CCDC74A 90557 broad.mit.edu 37 2 132288316 132288316 + Missense_Mutation SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr2:132288316G>T ENST00000467992.2 + 1 1080 c.766G>T c.(766-768)Ggc>Tgc p.G256C CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000295171.6_Missense_Mutation_p.G154C Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 154 p.G154C(1) endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 GCGTCTTGCGGGCGGTAGCGC 0.632000 6 77 3.59834e-05 4.44635e-05 0.001168 1 0 CDK17 5128 broad.mit.edu 37 12 96694092 96694092 + Missense_Mutation SNP T T C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr12:96694092T>C ENST00000261211.3 - 6 1193 c.590A>G c.(589-591)aAg>aGg p.K197R CDK17_ENST00000553042.1_5'UTR|CDK17_ENST00000542666.1_Missense_Mutation_p.K144R|CDK17_ENST00000543119.2_Missense_Mutation_p.K197R NM_001170464.2|NM_002595.4 NP_001163935.1|NP_002586.2 Q00537 CDK17_HUMAN cyclin-dependent kinase 17 197 Protein kinase. ATP binding|cyclin-dependent protein kinase activity p.K197R(1) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1) 37 CTCTCCAAGCTTTTCCAATTT 0.289000 3 79 0 0 0.004672 0 0 CXorf22 170063 broad.mit.edu 37 X 35971801 35971801 + Missense_Mutation SNP G G A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chrX:35971801G>A ENST00000297866.5 + 7 1205 c.1139G>A c.(1138-1140)gGa>gAa p.G380E NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 380 p.G380E(2) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 AGTAAAGATGGATTTTTGAGA 0.318000 11 62 0 0 0.010729 0 0 RP1 6101 broad.mit.edu 37 8 55540191 55540191 + Missense_Mutation SNP G G A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr8:55540191G>A ENST00000220676.1 + 4 3897 c.3749G>A c.(3748-3750)tGt>tAt p.C1250Y NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1250 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.C1250Y(1) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CCTGAAGTCTGTGTTTTGGAA 0.438000 14 159 0 0 0.003163 0 0 SOS2 6655 broad.mit.edu 37 14 50600930 50600930 + Nonsense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr14:50600930C>A ENST00000216373.5 - 19 3260 c.2986G>T c.(2986-2988)Gga>Tga p.G996* SOS2_ENST00000543680.1_Nonsense_Mutation_p.G963* NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 996 Ras-GEF. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity p.G996*(2) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) GATGCACTTCCCATGGGGTTA 0.313000 28 134 6.38683e-12 1.00735e-11 0.008361 1 0 IRS1 3667 broad.mit.edu 37 2 227660594 227660594 + Missense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr2:227660594C>A ENST00000305123.4 - 1 3881 c.2861G>T c.(2860-2862)tGg>tTg p.W954L NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 954 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity p.W954L(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) GCTCTCCTGCCAGGCTGCCCT 0.672000 14 79 3.52763e-06 4.65551e-06 0.004990 1 0 COL3A1 1281 broad.mit.edu 37 2 189849926 189849926 + Missense_Mutation SNP A A T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr2:189849926A>T ENST00000304636.3 + 3 456 c.286A>T c.(286-288)Act>Tct p.T96S COL3A1_ENST00000317840.5_Missense_Mutation_p.T96S NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 96 axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding p.T96S(1) NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TTATTAGCCTACTCGCCCTCC 0.338000 20 66 0 0 0.008871 0 0 NLRP13 126204 broad.mit.edu 37 19 56424482 56424482 + Missense_Mutation SNP A A T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr19:56424482A>T ENST00000588751.1 - 5 725 c.701T>A c.(700-702)gTg>gAg p.V234E NLRP13_ENST00000342929.3_Missense_Mutation_p.V234E Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 234 NACHT. ATP binding p.V234E(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TGCCCTCCCCACCAAGACTAT 0.502000 55 106 0 0 0.014410 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531256 140531256 + Missense_Mutation SNP C C A rs147347959 TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr5:140531256C>A ENST00000231136.1 + 1 1418 c.1418C>A c.(1417-1419)gCc>gAc p.A473D PCDHB6_ENST00000543635.1_Missense_Mutation_p.A337D NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 473 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.A473D(1) cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCGTCAGCGCCACAGACAGA 0.642000 7 86 0.00621372 0.00696798 0.006214 1 0 MCM4 4173 broad.mit.edu 37 8 48883365 48883365 + Missense_Mutation SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr8:48883365G>T ENST00000262105.2 + 11 1938 c.1729G>T c.(1729-1731)Gac>Tac p.D577Y MCM4_ENST00000523944.1_Missense_Mutation_p.D577Y NM_005914.3 NP_005905.2 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 577 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding p.D577Y(1) biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) CGATGAGTTCGACAAGATGAA 0.498000 13 44 2.32078e-09 3.43689e-09 0.003163 1 0 MXRA5 25878 broad.mit.edu 37 X 3238914 3238914 + Silent SNP T T C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chrX:3238914T>C ENST00000217939.6 - 5 4966 c.4812A>G c.(4810-4812)caA>caG p.Q1604Q NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1604 extracellular region p.Q1604Q(2) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTCTGGTTAGTTGATGAGAAG 0.483000 19 99 0 0 0.007413 0 0 CASS4 57091 broad.mit.edu 37 20 55012296 55012296 + Missense_Mutation SNP T T C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr20:55012296T>C ENST00000371336.3 + 2 314 c.113T>C c.(112-114)cTg>cCg p.L38P CASS4_ENST00000434344.1_Missense_Mutation_p.L38P|CASS4_ENST00000360314.3_Missense_Mutation_p.L38P NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 38 SH3. cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity p.L38P(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 GGGGACATCCTGACCATTCTG 0.597000 8 71 0 0 0.006122 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 65 0 0 0.003080 0 0 OR2AG1 144125 broad.mit.edu 37 11 6806454 6806454 + Silent SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr11:6806454G>T ENST00000307401.4 + 1 207 c.186G>T c.(184-186)ctG>ctT p.L62L NM_001004489.2 NP_001004489.1 Q9H205 O2AG1_HUMAN olfactory receptor, family 2, subfamily AG, member 1 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L62L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.00776)|all_neural(188;0.0652) Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TGTACCTCCTGCTTGGGCAGC 0.532000 27 131 1.06801e-11 1.65755e-11 0.009535 1 0 CDH9 1007 broad.mit.edu 37 5 26881622 26881622 + Missense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr5:26881622C>A ENST00000231021.4 - 12 2165 c.1993G>T c.(1993-1995)Ggg>Tgg p.G665W NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 665 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G665W(1) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TCTTCTTCCCCGCCGCCTTCA 0.428000 19 166 7.21436e-19 1.18609e-18 0.008871 1 0 C16orf72 29035 broad.mit.edu 37 16 9197114 9197114 + Missense_Mutation SNP A A C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr16:9197114A>C ENST00000327827.7 + 3 978 c.581A>C c.(580-582)cAt>cCt p.H194P NM_014117.2 NP_054836.2 Q14CZ0 CP072_HUMAN chromosome 16 open reading frame 72 194 p.H194P(1) endometrium(4)|large_intestine(2)|lung(2) 8 ATAGCTCTGCATGGTAAAGCC 0.443000 9 26 0 0 0.010729 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64589670 64589670 + Silent SNP C C G TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr3:64589670C>G ENST00000498707.1 - 25 4017 c.3675G>C c.(3673-3675)ctG>ctC p.L1225L ADAMTS9_ENST00000295903.4_Silent_p.L1197L NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1225 TSP type-1 7. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.L1225L(1) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CTGGTCTAGGCAGGGTAGCAC 0.542000 21 44 0 0 0.008871 0 0 RYR2 6262 broad.mit.edu 37 1 237774102 237774102 + Missense_Mutation SNP A A G TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr1:237774102A>G ENST00000366574.2 + 36 5041 c.4724A>G c.(4723-4725)cAc>cGc p.H1575R RYR2_ENST00000542537.1_Missense_Mutation_p.H1559R|RYR2_ENST00000360064.6_Missense_Mutation_p.H1573R NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1575 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 p.H1573R(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AAGAGTGAGCACAAGAACCCC 0.532000 3 14 0 0 0.009096 0 0 CSMD3 114788 broad.mit.edu 37 8 113569029 113569029 + Missense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr8:113569029C>A ENST00000297405.5 - 25 4441 c.4197G>T c.(4195-4197)gaG>gaT p.E1399D CSMD3_ENST00000343508.3_Missense_Mutation_p.E1359D|CSMD3_ENST00000455883.2_Missense_Mutation_p.E1295D|CSMD3_ENST00000352409.3_Missense_Mutation_p.E1399D NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1399 Sushi 7. integral to membrane|plasma membrane p.E1399D(1)|p.E1359D(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATGCCCTTCTCTCCCCTGTCA 0.438000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 68 2.68362e-12 4.30266e-12 0.013537 1 0 GCM1 8521 broad.mit.edu 37 6 52993300 52993300 + Missense_Mutation SNP G G C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr6:52993300G>C ENST00000259803.7 - 6 1226 c.1015C>G c.(1015-1017)Cag>Gag p.Q339E NM_003643.3 NP_003634.2 Q9NP62 GCM1_HUMAN glial cells missing homolog 1 (Drosophila) 339 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.Y338_Q339>*(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) GGAAGCTGCTGGTAAAAGGGT 0.458000 17 57 0 0 0.004007 0 0 C1orf173 127254 broad.mit.edu 37 1 75065513 75065513 + Missense_Mutation SNP A A G TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr1:75065513A>G ENST00000326665.5 - 11 1810 c.1592T>C c.(1591-1593)tTg>tCg p.L531S C1orf173_ENST00000420661.2_Missense_Mutation_p.L334S|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 531 Glu-rich. p.L531S(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TTTATCATCCAAAGGTGACTG 0.388000 6 176 0 0 0.001984 0 0 TNK1 8711 broad.mit.edu 37 17 7291918 7291918 + Missense_Mutation SNP A A C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr17:7291918A>C ENST00000570896.1 + 12 2117 c.1671A>C c.(1669-1671)agA>agC p.R557S TNK1_ENST00000311668.2_Missense_Mutation_p.R557S|TNK1_ENST00000576812.1_Missense_Mutation_p.R562S Q13470 TNK1_HUMAN tyrosine kinase, non-receptor, 1 562 Pro-rich. protein autophosphorylation membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity p.R562S(1) central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1) 16 Prostate(122;0.157) GGCCCAAAAGAAAACCCCCAC 0.607000 7 24 0 0 0.001984 0 0 FAM181A 90050 broad.mit.edu 37 14 94394802 94394802 + Silent SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr14:94394802G>T ENST00000267594.5 + 3 664 c.357G>T c.(355-357)cgG>cgT p.R119R FAM181A_ENST00000557000.2_Silent_p.R57R|FAM181A_ENST00000556222.1_Silent_p.R57R|FAM181A_ENST00000557719.1_Silent_p.R57R NM_001207073.1|NM_001207074.1|NM_138344.4 NP_001194002.1|NP_001194003.1|NP_612353.3 Q8N9Y4 F181A_HUMAN family with sequence similarity 181, member A 119 p.R119L(1) cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 GGCTCCCGCGGGGCCTTCCTG 0.657000 9 22 1.12685e-05 1.44774e-05 0.004482 1 0 AFAP1L2 84632 broad.mit.edu 37 10 116060424 116060424 + Missense_Mutation SNP G G A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr10:116060424G>A ENST00000369271.3 - 14 1868 c.1568C>T c.(1567-1569)cCt>cTt p.P523L AFAP1L2_ENST00000545353.1_Missense_Mutation_p.P576L|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.P523L NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 523 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding p.P523L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) ATCTGCAACAGGGGTGGCTTC 0.582000 8 72 0 0 0.008291 0 0 OVCH1 341350 broad.mit.edu 37 12 29614910 29614910 + Silent SNP A A T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr12:29614910A>T ENST00000318184.5 - 19 2156 c.2157T>A c.(2155-2157)atT>atA p.I719I OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 719 Peptidase S1 2. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity p.I719I(1) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) CATGCACTTGAATCTGCTGTA 0.433000 12 146 0 0 0.001855 0 0 CRYZL1 9946 broad.mit.edu 37 21 34974653 34974653 + Splice_Site SNP T T A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr21:34974653T>A ENST00000361534.2 - 9 677 c.e9-2 CRYZL1_ENST00000381540.3_Splice_Site|CRYZL1_ENST00000381554.3_Splice_Site|CRYZL1_ENST00000445393.1_Splice_Site|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000290244.5_Splice_Site O95825 QORL1_HUMAN crystallin, zeta (quinone reductase)-like 1 quinone cofactor metabolic process cytosol NADP binding|NADPH:quinone reductase activity|zinc ion binding p.?(1) lung(1)|prostate(1)|urinary_tract(1) 3 ACCAAATGCCTGTGTAGAAAA 0.338000 12 45 0 0 0.013537 0 0 TUBA3E 112714 broad.mit.edu 37 2 130953906 130953906 + Silent SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr2:130953906G>T ENST00000312988.7 - 2 142 c.42C>A c.(40-42)gtC>gtA p.V14V NM_207312.2 NP_997195.1 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 14 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity p.V14V(1) endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2) 28 Colorectal(110;0.1) TGCCGATCTGGACACCCGCCT 0.502000 15 68 1.1804e-14 1.90831e-14 0.003954 1 0 MFHAS1 9258 broad.mit.edu 37 8 8748245 8748245 + Missense_Mutation SNP G G C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr8:8748245G>C ENST00000276282.6 - 1 2910 c.2324C>G c.(2323-2325)cCc>cGc p.P775R NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 775 p.P775R(1) endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) TTCCTGGCTGGGGGTGGACCG 0.617000 5 61 0 0 0.001168 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 3 65 0 0 0.003080 0 0 IRS4 8471 broad.mit.edu 37 X 107977758 107977758 + Missense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chrX:107977758C>A ENST00000372129.2 - 1 1893 c.1817G>T c.(1816-1818)cGt>cTt p.R606L NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 606 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity p.R606L(1)|p.R606H(1) NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 AGATTTTCCACGTTCACCATC 0.542000 35 154 1.04352e-10 1.58158e-10 0.003755 1 0 DMXL2 23312 broad.mit.edu 37 15 51741321 51741321 + Nonsense_Mutation SNP G G A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr15:51741321G>A ENST00000251076.5 - 43 9258 c.8971C>T c.(8971-8973)Cga>Tga p.R2991* RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.R2355*|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.R2992* NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2991 cell junction|synaptic vesicle membrane Rab GTPase binding p.R2991*(2) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) CCAATGTTTCGAAATATGGAC 0.438000 31 101 0 0 0.013726 0 0 SHOC2 8036 broad.mit.edu 37 10 112764460 112764460 + Missense_Mutation SNP A A G TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr10:112764460A>G ENST00000369452.4 + 5 1414 c.1069A>G c.(1069-1071)Atc>Gtc p.I357V SHOC2_ENST00000489390.1_3'UTR|SHOC2_ENST00000265277.5_Missense_Mutation_p.I311V NM_007373.3 NP_031399.2 Q9UQ13 SHOC2_HUMAN soc-2 suppressor of clear homolog (C. elegans) 357 fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction nucleus|protein phosphatase type 1 complex protein phosphatase binding|protein phosphatase regulator activity p.I357V(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2) 17 Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126) GTTTTCTACCATCTATTCCCT 0.368000 14 65 0 0 0.002450 0 0 TAF6 6878 broad.mit.edu 37 7 99705129 99705129 + Missense_Mutation SNP G G C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr7:99705129G>C ENST00000344095.4 - 15 2299 c.1774C>G c.(1774-1776)Ccc>Gcc p.P592A TAF6_ENST00000453269.2_Missense_Mutation_p.P592A|TAF6_ENST00000437822.2_Missense_Mutation_p.P629A|TAF6_ENST00000452041.1_Missense_Mutation_p.P592A|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000418432.2_Missense_Mutation_p.P516A|TAF6_ENST00000472509.1_Missense_Mutation_p.P649A NM_005641.3 NP_005632.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 592 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.P592A(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GTGCTGGGGGGTGCGGTGGTG 0.667000 22 104 0 0 0.006320 0 0 ADRA2A 150 broad.mit.edu 37 10 112838174 112838174 + Silent SNP C C T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr10:112838174C>T ENST00000280155.2 + 1 1385 c.420C>T c.(418-420)tgC>tgT p.C140C NM_000681.3 NP_000672.3 P08913 ADA2A_HUMAN adrenoceptor alpha 2A 125 actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding p.C125C(1) breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(234;0.0735)|Lung NSC(174;0.238) Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118) Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392) TGCACCTGTGCGCCATCAGCC 0.612000 3 32 0 0 0.004672 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203159 140203159 + Missense_Mutation SNP C C T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr5:140203159C>T ENST00000529859.1 + 1 1799 c.1799C>T c.(1798-1800)tCg>tTg p.S600L PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S600L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S600L NM_018908.2 NP_061731.1 p.S600L(7) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACCCTGATTCGGGCTACAAC 0.672000 10 54 0 0 0.013537 0 0 MPHOSPH8 54737 broad.mit.edu 37 13 20240685 20240685 + Missense_Mutation SNP C C T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr13:20240685C>T ENST00000361479.5 + 10 2208 c.2140C>T c.(2140-2142)Ctt>Ttt p.L714F MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.L714F NM_017520.3 NP_059990.2 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 714 cell cycle cytoplasm|nucleus p.L714F(1) breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) TAACAATGTGCTTGTGTACGA 0.408000 3 82 0 0 0.004672 0 0 ZWINT 11130 broad.mit.edu 37 10 58118343 58118343 + Missense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr10:58118343C>A ENST00000373944.3 - 7 804 c.766G>T c.(766-768)Ggg>Tgg p.G256W ZWINT_ENST00000318387.2_Missense_Mutation_p.G136W|ZWINT_ENST00000361148.6_Missense_Mutation_p.G209W|ZWINT_ENST00000395405.1_Missense_Mutation_p.G256W|ZWINT_ENST00000460654.1_5'UTR O95229 ZWINT_HUMAN ZW10 interacting kinetochore protein 256 cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding p.G256W(1) NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1) 20 GGGTCTCTCCCCATGGTGTCT 0.567000 29 96 9.17885e-22 1.54843e-21 0.003271 1 0 UBQLN4 56893 broad.mit.edu 37 1 156020169 156020169 + Missense_Mutation SNP C C T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr1:156020169C>T ENST00000368309.3 - 4 746 c.654G>A c.(652-654)atG>atA p.M218I UBQLN4_ENST00000472638.1_Intron|UBQLN4_ENST00000368307.1_Intron NM_020131.3 NP_064516.2 Q9NRR5 UBQL4_HUMAN ubiquilin 4 218 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding p.M218I(1) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2) 16 Hepatocellular(266;0.133)|all_neural(408;0.195) TGGCCATAATCATGTGACGCA 0.522000 47 112 0 0 0.014410 0 0 LRP1B 53353 broad.mit.edu 37 2 141625676 141625676 + Silent SNP T T A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr2:141625676T>A ENST00000389484.3 - 26 5297 c.4326A>T c.(4324-4326)acA>acT p.T1442T NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1442 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.T1442T(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACCTGGCGTCTGTCCACACTA 0.363000 TSP Lung(27;0.18) 26 96 0 0 0.005443 0 0 DTX2 113878 broad.mit.edu 37 7 76121568 76121568 + Missense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr7:76121568C>A ENST00000324432.5 + 6 1517 c.1007C>A c.(1006-1008)gCa>gAa p.A336E DTX2_ENST00000446820.2_Missense_Mutation_p.A336E|DTX2_ENST00000446600.1_Missense_Mutation_p.A245E|DTX2_ENST00000413936.2_Missense_Mutation_p.A336E|DTX2_ENST00000307569.8_Missense_Mutation_p.A336E|DTX2_ENST00000430490.2_Missense_Mutation_p.A336E NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 336 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding p.A336E(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 CAGGCGCTCGCAGGTAGGTGC 0.647000 14 31 1.15088e-07 1.59479e-07 0.004007 1 0 ANKRD30B 374860 broad.mit.edu 37 18 14851640 14851640 + Nonsense_Mutation SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr18:14851640G>T ENST00000358984.4 + 36 3520 c.3340G>T c.(3340-3342)Gag>Tag p.E1114* NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1199 p.E1114*(1) breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 TAAATACTTTGAGGACATTAA 0.348000 7 24 2.17888e-05 2.76276e-05 0.006214 1 0 OPALIN 93377 broad.mit.edu 37 10 98105750 98105750 + Missense_Mutation SNP A A G TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr10:98105750A>G ENST00000419479.1 - 7 851 c.344T>C c.(343-345)aTg>aCg p.M115T OPALIN_ENST00000371172.3_Missense_Mutation_p.M125T|OPALIN_ENST00000393870.2_Missense_Mutation_p.M114T|OPALIN_ENST00000393871.1_Missense_Mutation_p.M102T|OPALIN_ENST00000536387.1_Missense_Mutation_p.M115T NM_001040103.1 NP_001035192.1 Q96PE5 OPALI_HUMAN oligodendrocytic myelin paranodal and inner loop protein 125 Golgi apparatus|integral to membrane|plasma membrane p.M115T(1)|p.M125T(1) breast(1)|large_intestine(1)|lung(5)|prostate(2) 9 CCTTCTTTCCATTTCTATAGT 0.517000 38 104 0 0 0.006230 0 0 FGB 2244 broad.mit.edu 37 4 155490722 155490722 + Missense_Mutation SNP G G C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr4:155490722G>C ENST00000302068.4 + 7 1078 c.1015G>C c.(1015-1017)Gaa>Caa p.E339Q FGB_ENST00000509493.1_Missense_Mutation_p.E120Q|FGB_ENST00000502545.1_Intron NM_005141.4 NP_005132.2 P02675 FIBB_HUMAN fibrinogen beta chain 339 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding p.E339Q(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GGGACCCACAGAACTTTTGAT 0.363000 14 77 0 0 0.004990 0 0 NFASC 23114 broad.mit.edu 37 1 204937421 204937421 + Missense_Mutation SNP G G A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr1:204937421G>A ENST00000367172.4 + 9 1079 c.751G>A c.(751-753)Ggc>Agc p.G251S NFASC_ENST00000339876.6_Missense_Mutation_p.G251S|NFASC_ENST00000338586.6_Missense_Mutation_p.G251S|NFASC_ENST00000360049.4_Missense_Mutation_p.G262S|NFASC_ENST00000401399.1_Missense_Mutation_p.G251S|NFASC_ENST00000367169.4_Missense_Mutation_p.G251S|NFASC_ENST00000404907.1_Missense_Mutation_p.G262S|NFASC_ENST00000404076.1_Missense_Mutation_p.G245S|NFASC_ENST00000367171.4_Missense_Mutation_p.G251S|NFASC_ENST00000338515.6_Missense_Mutation_p.G251S|NFASC_ENST00000539706.1_Missense_Mutation_p.G262S|NFASC_ENST00000513543.1_Missense_Mutation_p.G262S|NFASC_ENST00000367170.4_Missense_Mutation_p.G251S|NFASC_ENST00000403080.1_Missense_Mutation_p.G251S O94856 NFASC_HUMAN neurofascin 251 Ig-like C2-type 3. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding p.G251S(2)|p.G262S(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GTATCCCCAGGGCACCGCGAG 0.582000 10 83 0 0 0.008291 0 0 KIAA0232 9778 broad.mit.edu 37 4 6860175 6860175 + Nonsense_Mutation SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr4:6860175G>T ENST00000307659.5 + 6 915 c.460G>T c.(460-462)Gag>Tag p.E154* KIAA0232_ENST00000425103.1_Nonsense_Mutation_p.E154* NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 154 ATP binding p.E154*(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 CAAAAAGTTAGAGGGGTCTCC 0.328000 4 30 0.00116845 0.0013179 0.001168 1 0 TDRD5 163589 broad.mit.edu 37 1 179604812 179604812 + Missense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr1:179604812C>A ENST00000444136.1 + 9 1560 c.1310C>A c.(1309-1311)aCa>aAa p.T437K TDRD5_ENST00000294848.8_Missense_Mutation_p.T437K|TDRD5_ENST00000367614.1_Missense_Mutation_p.T437K NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 437 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding p.T437K(1) NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 CAAGTAGAAACAAACAAATCA 0.393000 8 29 5.4927e-09 7.95212e-09 0.004482 1 0 NPAP1 23742 broad.mit.edu 37 15 24921430 24921430 + Missense_Mutation SNP A A T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr15:24921430A>T ENST00000329468.2 + 1 890 c.416A>T c.(415-417)aAg>aTg p.K139M NM_018958.2 NP_061831.2 nuclear pore associated protein 1 p.K139M(1) AAGGCCAGGAAGCCCATCCCA 0.622000 6 41 0 0 0.001168 0 0 LRRC15 131578 broad.mit.edu 37 3 194081021 194081021 + Missense_Mutation SNP T T A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr3:194081021T>A ENST00000347624.3 - 2 837 c.752A>T c.(751-753)tAc>tTc p.Y251F LRRC15_ENST00000428839.1_Missense_Mutation_p.Y257F|LRRC15_ENST00000439944.2_Missense_Mutation_p.Y257F NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 251 integral to membrane p.Y251F(1) biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) GTTGGACAGGTAGAGTCTCTG 0.552000 16 41 0 0 0.004990 0 0 GCM1 8521 broad.mit.edu 37 6 52993301 52993301 + Nonsense_Mutation SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr6:52993301G>T ENST00000259803.7 - 6 1225 c.1014C>A c.(1012-1014)taC>taA p.Y338* NM_003643.3 NP_003634.2 Q9NP62 GCM1_HUMAN glial cells missing homolog 1 (Drosophila) 338 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.Y338_Q339>*(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) GAAGCTGCTGGTAAAAGGGTT 0.463000 17 55 1.15088e-07 1.59479e-07 0.004007 1 0 EVI2A 2123 broad.mit.edu 37 17 29645432 29645432 + Missense_Mutation SNP T T G TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr17:29645432T>G ENST00000247270.3 - 3 1005 c.669A>C c.(667-669)aaA>aaC p.K223N NF1_ENST00000581113.2_3'UTR|CTD-2370N5.3_ENST00000578584.1_Missense_Mutation_p.T140P|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000461237.1_Missense_Mutation_p.K200N|EVI2A_ENST00000462804.2_Missense_Mutation_p.K200N|NF1_ENST00000358273.4_Intron NM_001003927.2 NP_001003927.1 P22794 EVI2A_HUMAN ecotropic viral integration site 2A 200 integral to membrane transmembrane receptor activity p.0?(8)|p.?(3)|p.K223N(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18) CTGTGAGCTGTTTTGTTCTTT 0.453000 6 44 0 0 0.004482 0 0 KMT2C 58508 broad.mit.edu 37 7 151945190 151945190 + Missense_Mutation SNP T T A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr7:151945190T>A ENST00000355193.2 - 14 2547 c.2329A>T c.(2329-2331)Agc>Tgc p.S777C KMT2C_ENST00000262189.6_Missense_Mutation_p.S777C lysine (K)-specific methyltransferase 2C p.S777C(2) TCTGCCTTGCTTATGTCTGCT 0.423000 37 191 0 0 0.004289 0 0 LCE1F 353137 broad.mit.edu 37 1 152748899 152748899 + Missense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr1:152748899C>A ENST00000334371.2 + 1 52 c.52C>A c.(52-54)Ccc>Acc p.P18T NM_178354.2 NP_848131.1 Q5T754 LCE1F_HUMAN late cornified envelope 1F 18 Pro-rich. keratinization p.P18T(1) kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) caagtgcactcccaagtgccc 0.632000 17 72 8.34094e-07 1.12371e-06 0.008871 1 0 BMS1P20 96610 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 3 88 0 0 0.000602 0 0 TGS1 96764 broad.mit.edu 37 8 56695311 56695311 + Nonsense_Mutation SNP C C T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr8:56695311C>T ENST00000260129.5 + 2 583 c.106C>T c.(106-108)Cga>Tga p.R36* NM_024831.6 NP_079107.6 Q96RS0 TGS1_HUMAN trimethylguanosine synthase 1 36 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity p.R36*(1) breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) TCGCAGGGATCGAAAATTGTA 0.318000 25 78 0 0 0.007291 0 0 NCAM1 4684 broad.mit.edu 37 11 113076778 113076778 + Silent SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr11:113076778C>A ENST00000316851.7 + 4 474 c.474C>A c.(472-474)gtC>gtA p.V158V NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Silent_p.V50V|NCAM1_ENST00000401611.2_Silent_p.V167V NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 168 Ig-like C2-type 2. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane p.V167V(2)|p.V158V(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) GATTCATAGTCCTGTCCAACA 0.502000 23 47 7.88262e-20 1.3183e-19 0.003330 1 0 S1PR1 1901 broad.mit.edu 37 1 101705215 101705215 + Nonsense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr1:101705215C>A ENST00000305352.6 + 2 1050 c.675C>A c.(673-675)taC>taA p.Y225* NM_001400.4 NP_001391.2 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 225 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity p.Y225*(1) NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 GCAGAATCTACTCCTTGGTCA 0.567000 15 61 4.7546e-09 6.93529e-09 0.004007 1 0 SALL3 27164 broad.mit.edu 37 18 76754914 76754914 + Missense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr18:76754914C>A ENST00000537592.2 + 2 2923 c.2923C>A c.(2923-2925)Ccc>Acc p.P975T SALL3_ENST00000575389.2_Intron|SALL3_ENST00000536229.3_Intron NM_171999.3 NP_741996.2 Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 975 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P975T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GGGTAAGTGTCCCAGCACTGT 0.657000 10 12 7.48243e-07 1.0151e-06 0.006214 1 0 COL5A3 50509 broad.mit.edu 37 19 10102467 10102467 + Silent SNP G G A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr19:10102467G>A ENST00000264828.3 - 23 2029 c.1944C>T c.(1942-1944)tcC>tcT p.S648S NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 648 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent p.S648S(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) TTCAAACCTGGGACCCATGGT 0.557000 6 106 0 0 0.004482 0 0 ENTPD2 954 broad.mit.edu 37 9 139944797 139944797 + Missense_Mutation SNP C C T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr9:139944797C>T ENST00000355097.2 - 6 1015 c.968G>A c.(967-969)tGc>tAc p.C323Y ENTPD2_ENST00000312665.5_Missense_Mutation_p.C323Y NM_001246.3|NM_203468.2 NP_001237.1|NP_982293.1 Q9Y5L3 ENTP2_HUMAN ectonucleoside triphosphate diphosphohydrolase 2 323 integral to membrane ATP binding p.C323Y(1) endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3) 12 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GGAGAAGGGGCAGGAGGAGAA 0.607000 OREG0019627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 106 0 0 0.000602 0 0 DMBT1 1755 broad.mit.edu 37 10 124358327 124358327 + Silent SNP A A C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr10:124358327A>C ENST00000368909.3 + 26 3100 c.2994A>C c.(2992-2994)ggA>ggC p.G998G DMBT1_ENST00000368956.2_Silent_p.G499G|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Silent_p.G988G|DMBT1_ENST00000338354.3_Silent_p.G998G|DMBT1_ENST00000368955.3_Silent_p.G988G|DMBT1_ENST00000330163.4_Silent_p.G499G NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 998 SRCR 8. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding p.G998G(3) breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGGTGAATGGAGGTGACAGGT 0.537000 32 271 0 0 0.011902 0 0 CLCN6 1185 broad.mit.edu 37 1 11896114 11896114 + Silent SNP G G A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr1:11896114G>A ENST00000346436.6 + 18 1936 c.1884G>A c.(1882-1884)acG>acA p.T628T CLCN6_ENST00000376487.3_Silent_p.T606T|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Silent_p.T628T NM_001286.3 NP_001277.1 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 628 CBS 1. cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity p.T628T(1) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TGCGCACCACGGTCCACCATG 0.582000 3 20 0 0 0.004672 0 0 LAMA2 3908 broad.mit.edu 37 6 129465145 129465145 + Missense_Mutation SNP A A G TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr6:129465145A>G ENST00000421865.2 + 5 788 c.739A>G c.(739-741)Agg>Ggg p.R247G NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 247 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.R247G(1) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GAGATTTCAGAGGATCCGCAC 0.433000 15 97 0 0 0.003163 0 0 MYO10 4651 broad.mit.edu 37 5 16680116 16680116 + Silent SNP G G A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr5:16680116G>A ENST00000513610.1 - 33 4936 c.4482C>T c.(4480-4482)aaC>aaT p.N1494N MYO10_ENST00000274203.9_Silent_p.N851N|MYO10_ENST00000505695.1_Silent_p.N833N|MYO10_ENST00000515803.1_Silent_p.N833N|MYO10_ENST00000427430.2_Silent_p.N851N NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1494 PH 2. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity p.N1494N(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 TGTCAGTCACGTTTTGAATGG 0.567000 3 29 0 0 0.004672 0 0 RTTN 25914 broad.mit.edu 37 18 67727182 67727182 + Missense_Mutation SNP G G A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr18:67727182G>A ENST00000255674.6 - 36 5130 c.4844C>T c.(4843-4845)tCa>tTa p.S1615L RTTN_ENST00000454359.1_3'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 1615 binding p.S1615L(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) GCACATTGCTGAAAGAAGAGA 0.468000 22 36 0 0 0.012319 0 0 NEIL3 55247 broad.mit.edu 37 4 178257420 178257420 + Missense_Mutation SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr4:178257420G>T ENST00000264596.3 + 4 690 c.572G>T c.(571-573)gGg>gTg p.G191V NM_018248.2 NP_060718.2 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 (E. coli) 191 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding p.G191V(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) CCTGGAGTAGGGAACATCATC 0.378000 Base excision repair (BER), DNA glycosylases 15 103 3.52763e-06 4.65551e-06 0.004990 1 0 BAP1 8314 broad.mit.edu 37 3 52437181 52437181 + Silent SNP G G A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr3:52437181G>A ENST00000460680.1 - 14 2334 c.1863C>T c.(1861-1863)ccC>ccT p.P621P BAP1_ENST00000296288.5_Silent_p.P603P NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 621 Interaction with BRCA1. monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.L622M(1) NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) CCCCACTCAAGGGCTCGCCAG 0.607000 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 4 39 0 0 0.004482 0 0 OR5M3 219482 broad.mit.edu 37 11 56237132 56237132 + Missense_Mutation SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr11:56237132G>T ENST00000312240.2 - 1 882 c.842C>A c.(841-843)cCc>cAc p.P281H NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P281H(1) NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) ATTCAACATGGGGATCACTGT 0.418000 9 32 5.50884e-06 7.17258e-06 0.013537 1 0 SEMA5A 9037 broad.mit.edu 37 5 9154736 9154736 + Missense_Mutation SNP C C T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr5:9154736C>T ENST00000382496.5 - 12 2010 c.1345G>A c.(1345-1347)Gag>Aag p.E449K NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 449 Sema. cell adhesion|cell-cell signaling integral to membrane|plasma membrane p.E449K(1) biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GGGAAGAGCTCAATCTCTTCC 0.542000 8 114 0 0 0.004482 0 0 TATDN2 9797 broad.mit.edu 37 3 10320619 10320619 + Silent SNP G G A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr3:10320619G>A ENST00000287652.4 + 7 3247 c.2196G>A c.(2194-2196)acG>acA p.T732T TATDN2_ENST00000448281.2_Silent_p.T732T|RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000496355.1_3'UTR NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 732 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding p.T732T(1) autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 CCTTGCATACGGTCCGAGAGA 0.537000 5 32 0 0 0.000602 0 0 SEC22A 26984 broad.mit.edu 37 3 122942517 122942517 + Nonsense_Mutation SNP T T G TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr3:122942517T>G ENST00000309934.4 + 2 1190 c.294T>G c.(292-294)taT>taG p.Y98* SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000492595.1_Nonsense_Mutation_p.Y98*|SEC22A_ENST00000481965.2_Intron NM_012430.4 NP_036562.2 Q96IW7 SC22A_HUMAN SEC22 vesicle trafficking protein homolog A (S. cerevisiae) 98 Longin. ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|integral to membrane transporter activity p.Y98*(1) NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 10 GBM - Glioblastoma multiforme(114;0.0548) TTACTACTTATAACATGATGA 0.388000 50 135 0 0 0.014410 0 0 GDPD1 284161 broad.mit.edu 37 17 57311875 57311875 + Silent SNP T T C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr17:57311875T>C ENST00000284116.4 + 2 302 c.165T>C c.(163-165)aaT>aaC p.N55N GDPD1_ENST00000581140.1_Silent_p.N55N|GDPD1_ENST00000581276.1_Silent_p.N55N NM_182569.3 NP_872375.2 Q8N9F7 GDPD1_HUMAN glycerophosphodiester phosphodiesterase domain containing 1 55 GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding p.N55N(2) endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 6 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) ATTTGGAGAATACAATGGCAG 0.289000 5 65 0 0 0.001168 0 0 NCKAP5 344148 broad.mit.edu 37 2 133486443 133486443 + Missense_Mutation SNP C C T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr2:133486443C>T ENST00000409261.1 - 18 5899 c.5526G>A c.(5524-5526)atG>atA p.M1842I NCKAP5_ENST00000409213.1_Missense_Mutation_p.M523I|NCKAP5_ENST00000317721.6_Missense_Mutation_p.M1842I|NCKAP5_ENST00000405974.3_Missense_Mutation_p.M523I NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1842 protein binding p.M362I(1)|p.M1842I(1) NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GCTGGCTTGCCATTGGGTCTT 0.552000 28 122 0 0 0.010818 0 0 PCDH8 5100 broad.mit.edu 37 13 53422550 53422550 + Missense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr13:53422550C>A ENST00000377942.3 - 1 225 c.22G>T c.(22-24)Ggc>Tgc p.G8C PCDH8_ENST00000338862.4_Missense_Mutation_p.G8C NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 8 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding p.G8C(1) 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) CAGGGGCTGCCCCAACGCCTC 0.592000 4 51 0.00024832 0.000291964 0.009096 1 0 FRY 10129 broad.mit.edu 37 13 32653165 32653165 + Missense_Mutation SNP C C T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr13:32653165C>T ENST00000380250.3 + 2 761 c.265C>T c.(265-267)Ccc>Tcc p.P89S NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 89 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane p.P89S(1) NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TATGGCAGAGCCCCTGGTGAG 0.403000 20 114 0 0 0.010504 0 0 SLFN13 146857 broad.mit.edu 37 17 33769261 33769261 + Nonsense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr17:33769261C>A ENST00000285013.6 - 5 1518 c.1243G>T c.(1243-1245)Gag>Tag p.E415* SLFN13_ENST00000526861.1_Nonsense_Mutation_p.E415*|SLFN13_ENST00000360502.2_Nonsense_Mutation_p.E97*|SLFN13_ENST00000542635.1_Nonsense_Mutation_p.E415*|SLFN13_ENST00000534689.1_Nonsense_Mutation_p.E97*|SLFN13_ENST00000533791.1_Nonsense_Mutation_p.E415* NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 415 intracellular ATP binding p.E415*(1) NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AAAGACAGCTCCTTCCAGAGG 0.428000 6 61 3.59834e-05 4.44635e-05 0.001168 1 0 SEC16B 89866 broad.mit.edu 37 1 177930770 177930770 + Missense_Mutation SNP G G A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr1:177930770G>A ENST00000308284.6 - 6 831 c.742C>T c.(742-744)Cgg>Tgg p.R248W RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.R248W|SEC16B_ENST00000464631.1_Missense_Mutation_p.R248W NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 248 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane p.R248W(1) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 GGATCATCCCGCTCCGGGGCA 0.537000 7 76 0 0 0.001984 0 0 IGLV10-54 28772 broad.mit.edu 37 22 22569450 22569450 + RNA SNP G G C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr22:22569450G>C ENST00000390287.2 + 0 155 CAGCAACATTGTTGGCAACCA 0.587000 5 10 0 0 0.001168 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140772816 140772816 + Missense_Mutation SNP G G A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr5:140772816G>A ENST00000398604.2 + 1 436 c.436G>A c.(436-438)Gcg>Acg p.A146T PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_032088.1 NP_114477.1 p.A146T(1) endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAACGAAATCGCGGTTCCTGG 0.443000 23 49 0 0 0.014323 0 0 FRMPD4 9758 broad.mit.edu 37 X 12632918 12632918 + Missense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chrX:12632918C>A ENST00000380682.1 + 4 846 c.340C>A c.(340-342)Ctg>Atg p.L114M NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 114 PDZ. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding p.L104M(1) breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 TGAAGGCAAGCTGATCCCGGG 0.512000 15 92 0.000308642 0.000360702 0.003163 1 0 MARCH1 55016 broad.mit.edu 37 4 164506998 164506998 + Missense_Mutation SNP G G A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr4:164506998G>A ENST00000503008.1 - 6 1302 c.326C>T c.(325-327)tCc>tTc p.S109F MARCH1_ENST00000514618.1_Missense_Mutation_p.S365F|MARCH1_ENST00000274056.7_Missense_Mutation_p.S109F|MARCH1_ENST00000339875.5_Missense_Mutation_p.S92F NM_001166373.1 NP_001159845.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 109 antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding p.S109F(1)|p.S92F(1) endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GTGGAGGCAGGACTGGTGGAC 0.542000 9 58 0 0 0.006214 0 0 XPO4 64328 broad.mit.edu 37 13 21373447 21373447 + Missense_Mutation SNP A A T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr13:21373447A>T ENST00000400602.2 - 16 2214 c.2179T>A c.(2179-2181)Tgg>Agg p.W727R XPO4_ENST00000255305.6_Missense_Mutation_p.W727R NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 727 protein transport cytoplasm|nucleus protein binding p.W700R(1) breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) GCTAAATTCCACCAGTTCTCA 0.378000 6 70 0 0 0.001984 0 0 GPC5 2262 broad.mit.edu 37 13 93518617 93518617 + Silent SNP A A T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr13:93518617A>T ENST00000377067.3 + 8 2016 c.1644A>T c.(1642-1644)gcA>gcT p.A548A NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 548 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.A548A(1) NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CAACAGGAGCAGGATGTGCAG 0.438000 11 82 0 0 0.008291 0 0 TAS2R16 50833 broad.mit.edu 37 7 122635164 122635164 + Missense_Mutation SNP C C G TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr7:122635164C>G ENST00000249284.2 - 1 590 c.525G>C c.(523-525)caG>caC p.Q175H NM_016945.2 NP_058641.1 Q9NYV7 T2R16_HUMAN taste receptor, type 2, member 16 175 detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding p.Q175H(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GGAACTGATACTGATGAAAAT 0.418000 31 88 0 0 0.010818 0 0 MOXD1 26002 broad.mit.edu 37 6 132693821 132693821 + Missense_Mutation SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr6:132693821G>T ENST00000367963.3 - 4 707 c.589C>A c.(589-591)Cca>Aca p.P197T MOXD1_ENST00000336749.3_Missense_Mutation_p.P129T NM_015529.2 NP_056344.2 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 197 catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity p.P197T(1)|p.P129T(1) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) TCTTTGTTTGGGATGGGGACC 0.363000 5 79 1.23904e-05 1.58141e-05 0.000602 1 0 ADAMTSL3 57188 broad.mit.edu 37 15 84659933 84659933 + Nonsense_Mutation SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr15:84659933G>T ENST00000286744.5 + 23 4164 c.3940G>T c.(3940-3942)Gga>Tga p.G1314* ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.G1314* NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1314 Ig-like C2-type 3. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding p.G1314*(1) NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GGCAGCCCTTGGAGCAAACGT 0.498000 45 187 2.77807e-22 4.72759e-22 0.013114 1 0 FLT1 2321 broad.mit.edu 37 13 29041231 29041231 + Missense_Mutation SNP A A G TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr13:29041231A>G ENST00000282397.4 - 3 448 c.197T>C c.(196-198)aTg>aCg p.M66T FLT1_ENST00000539099.1_Missense_Mutation_p.M66T|FLT1_ENST00000541932.1_Missense_Mutation_p.M66T NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 66 Ig-like C2-type 1. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity p.M66T(2) NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) CTTACTCACCATTTCAGGCAA 0.448000 20 107 0 0 0.003330 0 0 DCLK2 166614 broad.mit.edu 37 4 151169531 151169531 + Missense_Mutation SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr4:151169531G>T ENST00000296550.7 + 14 2704 c.1950G>T c.(1948-1950)tgG>tgT p.W650C DCLK2_ENST00000302176.8_Missense_Mutation_p.W667C|DCLK2_ENST00000506325.1_Missense_Mutation_p.W649C NM_001040260.3 NP_001035350.2 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 650 Protein kinase. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity p.W650C(1)|p.W667C(1) 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) GTCACCCCTGGGTGTCAGTAA 0.478000 3 36 0.00024832 0.000291964 0.009096 1 0 IFNA4 3441 broad.mit.edu 37 9 21187398 21187398 + Missense_Mutation SNP C C T rs145690832 byFrequency TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr9:21187398C>T ENST00000421715.1 - 1 200 c.133G>A c.(133-135)Gga>Aga p.G45R NM_021068.2 NP_066546.1 P05014 IFNA4_HUMAN interferon, alpha 4 45 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding p.G45R(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GAGATTCTTCCCATTTGTGCC 0.527000 24 89 0 0 0.003954 0 0 GREB1 9687 broad.mit.edu 37 2 11740993 11740993 + Missense_Mutation SNP T T C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr2:11740993T>C ENST00000381486.2 + 16 2701 c.2401T>C c.(2401-2403)Tgc>Cgc p.C801R GREB1_ENST00000234142.5_Missense_Mutation_p.C801R NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 801 integral to membrane p.C801R(1) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) ATTGCTCAACTGCAGGGAGGT 0.527000 43 182 0 0 0.014410 0 0 TEKT4 150483 broad.mit.edu 37 2 95537412 95537412 + Missense_Mutation SNP G G A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr2:95537412G>A ENST00000295201.4 + 1 225 c.88G>A c.(88-90)Gcc>Acc p.A30T TEKT4_ENST00000427593.2_Missense_Mutation_p.A30T|AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 30 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.A30T(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 CTCCGGCCTGGCCACCGCCAG 0.672000 4 27 0 0 0.009096 0 0 NECAP1 25977 broad.mit.edu 37 12 8244385 8244385 + Missense_Mutation SNP A A G TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr12:8244385A>G ENST00000339754.5 + 4 400 c.322A>G c.(322-324)Att>Gtt p.I108V NM_015509.3 NP_056324.2 Q8NC96 NECP1_HUMAN NECAP endocytosis associated 1 108 endocytosis|protein transport clathrin coated vesicle membrane|plasma membrane p.I108V(1) cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Kidney(36;0.0915) TTTCATTGGCATTGGCTTCAC 0.527000 3 35 0 0 0.004672 0 0 MTMR6 9107 broad.mit.edu 37 13 25848295 25848295 + Missense_Mutation SNP T T C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr13:25848295T>C ENST00000381801.5 - 2 816 c.55A>G c.(55-57)Agt>Ggt p.S19G MTMR6_ENST00000540661.1_Missense_Mutation_p.S19G NM_004685.3 NP_004676.3 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 19 cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity p.S19G(1) breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3) 36 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) TTGCTGGTACTGAATCGGTCA 0.348000 5 52 0 0 0.000602 0 0 STS 412 broad.mit.edu 37 X 7267979 7267979 + Missense_Mutation SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chrX:7267979G>T ENST00000217961.4 + 10 1649 c.1429G>T c.(1429-1431)Ggt>Tgt p.G477C NM_000351.4 NP_000342.2 P08842 STS_HUMAN steroid sulfatase (microsomal), isozyme S 477 female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity p.G477C(1) NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) CAACCCCGTGGGTTCCAACGG 0.478000 Ichthyosis 21 104 1.96292e-10 2.92928e-10 0.010504 1 0 NPAS3 64067 broad.mit.edu 37 14 34243683 34243683 + Silent SNP T T C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr14:34243683T>C ENST00000346562.2 + 7 971 c.897T>C c.(895-897)caT>caC p.H299H NPAS3_ENST00000551492.1_Silent_p.H336H|NPAS3_ENST00000548645.1_Silent_p.H301H|NPAS3_ENST00000357798.5_Silent_p.H318H|NPAS3_ENST00000356141.4_Silent_p.H331H NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 331 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity p.H331H(1)|p.H318H(1)|p.H299H(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) TTGACTGCCATATGTTCGTCA 0.468000 30 95 0 0 0.012213 0 0 SPTA1 6708 broad.mit.edu 37 1 158632684 158632684 + Missense_Mutation SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr1:158632684G>T ENST00000368148.3 - 17 2452 c.2272C>A c.(2272-2274)Cat>Aat p.H758N SPTA1_ENST00000368147.3_Missense_Mutation_p.H758N NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 758 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.H758N(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GAATCAGGATGGCCTATTTCT 0.438000 11 71 3.86212e-05 4.7421e-05 0.008291 1 0 STK26 51765 broad.mit.edu 37 X 131197485 131197485 + Nonsense_Mutation SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chrX:131197485G>T ENST00000394334.2 + 4 551 c.298G>T c.(298-300)Gaa>Taa p.E100* MST4_ENST00000481105.1_Nonsense_Mutation_p.E122*|MST4_ENST00000354719.6_Nonsense_Mutation_p.E100*|MST4_ENST00000496850.1_Nonsense_Mutation_p.E100*|MST4_ENST00000394335.2_Nonsense_Mutation_p.E23* NM_016542.3 NP_057626.2 Q9P289 MST4_HUMAN 100 Protein kinase. cellular component disassembly involved in apoptosis|regulation of apoptosis cytosol|Golgi membrane ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity p.E100*(1) endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(192;0.000127) GATAATAATGGAATACCTGGG 0.323000 16 109 0.00074312 0.000843072 0.006122 1 0 PCDH17 27253 broad.mit.edu 37 13 58207733 58207733 + Silent SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr13:58207733C>A ENST00000377918.3 + 1 1079 c.1053C>A c.(1051-1053)atC>atA p.I351I NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 351 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding p.I351I(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CGCCGTCCATCGGTTTCGTCT 0.662000 4 36 3.59834e-05 4.44635e-05 0.001168 1 0 FSD2 123722 broad.mit.edu 37 15 83451732 83451732 + Nonsense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr15:83451732C>A ENST00000334574.8 - 4 962 c.781G>T c.(781-783)Gag>Tag p.E261* FSD2_ENST00000541889.1_Nonsense_Mutation_p.E261* A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 261 p.E261*(1) breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 TCCAAGATCTCGTTGTAATGT 0.383000 4 213 0.00909568 0.0101412 0.009096 1 0 GPC5 2262 broad.mit.edu 37 13 92560221 92560221 + Silent SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr13:92560221C>A ENST00000377067.3 + 6 1683 c.1311C>A c.(1309-1311)atC>atA p.I437I NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 437 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.I437I(1) NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) GAAATGGAATCAAAGCCCAGT 0.393000 11 59 3.07112e-06 4.10894e-06 0.010729 1 0 MAP3K5 4217 broad.mit.edu 37 6 137041635 137041635 + Missense_Mutation SNP T T A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr6:137041635T>A ENST00000359015.4 - 2 901 c.541A>T c.(541-543)Atc>Ttc p.I181F NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 181 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding p.I181F(1) NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TAGAGGATGATGTTGTTGGCC 0.468000 13 47 0 0 0.002450 0 0 PVRL1 5818 broad.mit.edu 37 11 119509492 119509492 + Missense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr11:119509492C>A ENST00000341398.2 - 7 1175 c.1176G>T c.(1174-1176)aaG>aaT p.K392N RP11-196E1.3_ENST00000532153.1_RNA|RP11-196E1.3_ENST00000601999.1_RNA NM_203285.1 NP_976030.1 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 0 adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity p.K392N(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) AAGGCTCCGGCTTCTGGGAGA 0.632000 5 17 3.59834e-05 4.44635e-05 0.001168 1 0 PDE4D 5144 broad.mit.edu 37 5 58271618 58271618 + Missense_Mutation SNP G G A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr5:58271618G>A ENST00000340635.6 - 14 2054 c.1879C>T c.(1879-1881)Cct>Tct p.P627S PDE4D_ENST00000405755.2_Missense_Mutation_p.P505S|PDE4D_ENST00000507116.1_Missense_Mutation_p.P563S|PDE4D_ENST00000360047.5_Missense_Mutation_p.P491S|PDE4D_ENST00000358923.6_Missense_Mutation_p.P325S|PDE4D_ENST00000502484.2_Missense_Mutation_p.P566S|PDE4D_ENST00000503258.1_Missense_Mutation_p.P497S|PDE4D_ENST00000546160.1_Missense_Mutation_p.P566S|PDE4D_ENST00000317118.8_Missense_Mutation_p.P336S NM_001104631.1 NP_001098101.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 627 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding p.P491S(2)|p.P505S(1)|p.P566S(1)|p.P627S(1)|p.P497S(1)|p.P563S(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) AGCTGGAGAGGCTTTGTTGGG 0.483000 5 26 0 0 0.001168 0 0 KRI1 65095 broad.mit.edu 37 19 10668512 10668512 + Silent SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr19:10668512C>A ENST00000312962.6 - 15 1456 c.1437G>T c.(1435-1437)acG>acT p.T479T KRI1_ENST00000361821.5_Silent_p.T475T NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 479 p.T479T(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) TCTTCTTGCCCGTCAAGGGGG 0.677000 5 27 2.7689e-08 3.94975e-08 0.001984 1 0 GALNT14 79623 broad.mit.edu 37 2 31147016 31147016 + Missense_Mutation SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr2:31147016G>T ENST00000349752.5 - 13 1988 c.1349C>A c.(1348-1350)gCc>gAc p.A450D GALNT14_ENST00000356174.3_Missense_Mutation_p.A417D|GALNT14_ENST00000324589.5_Missense_Mutation_p.A455D|GALNT14_ENST00000486564.1_Intron|GALNT14_ENST00000406653.1_Missense_Mutation_p.A430D|GALNT14_ENST00000420311.2_Missense_Mutation_p.A415D NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 450 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.A450D(1) cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) TTTGACCTTGGCACAGGGGCT 0.517000 54 189 9.79885e-19 1.59746e-18 0.014410 1 0 CREB5 9586 broad.mit.edu 37 7 28610075 28610075 + Missense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr7:28610075C>A ENST00000357727.2 + 5 774 c.384C>A c.(382-384)aaC>aaA p.N128K CREB5_ENST00000409603.1_Missense_Mutation_p.N95K|CREB5_ENST00000396300.2_Missense_Mutation_p.N121K|CREB5_ENST00000396299.2_Missense_Mutation_p.N95K NM_182898.2 NP_878901.2 Q02930 CREB5_HUMAN cAMP responsive element binding protein 5 128 positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.N128K(1) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3) 32 ATGACACCAACGTTGTGATTC 0.592000 15 71 1.01871e-10 1.55614e-10 0.008871 1 0 NOD1 10392 broad.mit.edu 37 7 30492655 30492655 + Splice_Site SNP C C T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr7:30492655C>T ENST00000222823.4 - 6 903 c.376_splice c.e6-1 p.V126_splice NOD1_ENST00000423334.2_Splice_Site_p.V126_splice NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 126 activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity p.V126V(1) breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 TATACCTGCTCACTGGAGGGA 0.582000 11 52 0 0 0.002450 0 0 APOA5 116519 broad.mit.edu 37 11 116660968 116660968 + Missense_Mutation SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr11:116660968G>T ENST00000542499.1 - 4 1049 c.977C>A c.(976-978)cCa>cAa p.P326Q APOA5_ENST00000227665.4_Missense_Mutation_p.P326Q NM_001166598.1|NM_052968.4 NP_001160070.1|NP_443200.2 Q6Q788 APOA5_HUMAN apolipoprotein A-V 326 acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding p.P326Q(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1) 14 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) TTGAAACTCTGGGGCGAAGGC 0.597000 15 28 0.00074312 0.000843072 0.006122 1 0 IL1RL1 9173 broad.mit.edu 37 2 102956626 102956626 + Missense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr2:102956626C>A ENST00000311734.2 + 4 680 c.341C>A c.(340-342)cCa>cAa p.P114Q IL1RL1_ENST00000409584.1_Missense_Mutation_p.P114Q|IL1RL1_ENST00000404917.2_5'UTR|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000233954.1_Missense_Mutation_p.P114Q|IL1RL1_ENST00000393393.3_Missense_Mutation_p.P114Q Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 114 Ig-like C2-type 2. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity p.P114Q(2) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 TGCAATGTTCCAGATTATTTG 0.348000 16 50 1.02788e-11 1.60814e-11 0.004990 1 0 ATF7IP 55729 broad.mit.edu 37 12 14578064 14578064 + Silent SNP T T C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr12:14578064T>C ENST00000544627.1 + 2 1559 c.1239T>C c.(1237-1239)gaT>gaC p.D413D ATF7IP_ENST00000536444.1_Silent_p.D405D|ATF7IP_ENST00000261168.4_Silent_p.D405D|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Silent_p.D405D|ATF7IP_ENST00000540793.1_Silent_p.D405D Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 405 Glu-rich. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding p.D405D(1) cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 CTTCTGCAGATCTTGTAGAAA 0.328000 4 76 0 0 0.000602 0 0 OR2T8 343172 broad.mit.edu 37 1 248084381 248084381 + Missense_Mutation SNP C C T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr1:248084381C>T ENST00000319968.4 + 1 62 c.62C>T c.(61-63)gCc>gTc p.A21V NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A21V(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CACACCAGAGCCCACCAAGTC 0.448000 11 161 0 0 0.010729 0 0 SORCS3 22986 broad.mit.edu 37 10 106937932 106937932 + Splice_Site SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr10:106937932G>T ENST00000369701.3 + 14 2236 c.e14+1 SORCS3_ENST00000369699.4_Intron NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 integral to membrane neuropeptide receptor activity p.?(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) ACATCATGACGTGAGTACTTC 0.498000 3 45 0.00024832 0.000291964 0.009096 1 0 HOXD8 3234 broad.mit.edu 37 2 176995521 176995521 + Missense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr2:176995521C>A ENST00000313173.4 + 1 1054 c.427C>A c.(427-429)Cag>Aag p.Q143K HOXD8_ENST00000429017.1_Intron|HOXD8_ENST00000544999.1_Missense_Mutation_p.Q143K|HOXD8_ENST00000450510.2_Missense_Mutation_p.Q143K|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Intron NM_001199746.1|NM_019558.3 NP_001186675.1|NP_062458.1 P13378 HXD8_HUMAN homeobox D8 143 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.Q143K(1) central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) CGATAACTTACAGAGACAGCC 0.582000 21 97 4.26978e-12 6.78965e-12 0.003330 1 0 HCN3 57657 broad.mit.edu 37 1 155257693 155257693 + Silent SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr1:155257693G>T ENST00000368358.3 + 8 1772 c.1764G>T c.(1762-1764)cgG>cgT p.R588R HCN3_ENST00000496230.1_3'UTR NM_020897.1 NP_065948.1 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 3 588 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.R588R(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TTCGGGGTCGGGCCCCGAGCA 0.617000 10 53 0.000673444 0.000773066 0.008291 1 0 IL1RL1 9173 broad.mit.edu 37 2 102956627 102956627 + Silent SNP A A G TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr2:102956627A>G ENST00000311734.2 + 4 681 c.342A>G c.(340-342)ccA>ccG p.P114P IL1RL1_ENST00000409584.1_Silent_p.P114P|IL1RL1_ENST00000404917.2_5'UTR|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000233954.1_Silent_p.P114P|IL1RL1_ENST00000393393.3_Silent_p.P114P Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 114 Ig-like C2-type 2. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity p.P114Q(2) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 GCAATGTTCCAGATTATTTGA 0.343000 16 50 0 0 0.004990 0 0 FAM181A 90050 broad.mit.edu 37 14 94394801 94394801 + Missense_Mutation SNP G G T rs146784848 TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr14:94394801G>T ENST00000267594.5 + 3 663 c.356G>T c.(355-357)cGg>cTg p.R119L FAM181A_ENST00000557000.2_Missense_Mutation_p.R57L|FAM181A_ENST00000556222.1_Missense_Mutation_p.R57L|FAM181A_ENST00000557719.1_Missense_Mutation_p.R57L NM_001207073.1|NM_001207074.1|NM_138344.4 NP_001194002.1|NP_001194003.1|NP_612353.3 Q8N9Y4 F181A_HUMAN family with sequence similarity 181, member A 119 p.R119L(1) cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 CGGCTCCCGCGGGGCCTTCCT 0.657000 8 22 5.18039e-06 6.79051e-06 0.003080 1 0 MYH11 4629 broad.mit.edu 37 16 15814806 15814806 + Missense_Mutation SNP C C T rs138863103 TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr16:15814806C>T ENST00000338282.6 - 33 4787 c.4681G>A c.(4681-4683)Gcc>Acc p.A1561T MYH11_ENST00000396324.3_Missense_Mutation_p.A1568T|MYH11_ENST00000300036.5_Missense_Mutation_p.A1561T|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000576790.1_Missense_Mutation_p.A1561T|MYH11_ENST00000452625.2_Missense_Mutation_p.A1568T NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1561 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle p.A1561T(1)|p.A1568T(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CGCAGTTTGGCGTCCTCCGTG 0.602000 T CBFB AML 13 81 0 0 0.001855 0 0 RGS9 8787 broad.mit.edu 37 17 63133675 63133675 + Missense_Mutation SNP A A G TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr17:63133675A>G ENST00000449996.3 + 1 89 c.17A>G c.(16-18)cAa>cGa p.Q6R RGS9_ENST00000262406.9_Missense_Mutation_p.Q6R|RGS9_ENST00000443584.3_Missense_Mutation_p.Q6R NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 6 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity p.Q6R(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 ATCCGACACCAAGGCCAGCAG 0.622000 8 54 0 0 0.008291 0 0 OR5H6 79295 broad.mit.edu 37 3 97983253 97983253 + Missense_Mutation SNP C C A rs36040433 byFrequency TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr3:97983253C>A ENST00000383696.2 + 1 166 c.125C>A c.(124-126)cCg>cAg p.P42Q RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 42 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P42Q(1) cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TGTAAAATACCGCTCTTCCTG 0.418000 42 155 1.48734e-19 2.46618e-19 0.013114 1 0 LCE1F 353137 broad.mit.edu 37 1 152749165 152749165 + Silent SNP C C T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr1:152749165C>T ENST00000334371.2 + 1 318 c.318C>T c.(316-318)tgC>tgT p.C106C NM_178354.2 NP_848131.1 Q5T754 LCE1F_HUMAN late cornified envelope 1F 106 keratinization p.C106C(1) kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCAGCTGCTGCGGAGGGGGCA 0.627000 8 40 0 0 0.002450 0 0 GRIN2B 2904 broad.mit.edu 37 12 13768186 13768186 + Missense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr12:13768186C>A ENST00000279593.3 - 7 1725 c.1516G>T c.(1516-1518)Gcc>Tcc p.A506S NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 506 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.A506S(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCCATGTAGGCCCTCTTCATG 0.502000 7 42 8.12818e-05 9.85542e-05 0.001984 1 0 ZMYM5 9205 broad.mit.edu 37 13 20425887 20425887 + Missense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr13:20425887C>A ENST00000337963.4 - 3 698 c.434G>T c.(433-435)gGa>gTa p.G145V ZMYM5_ENST00000382905.4_Missense_Mutation_p.G145V|ZMYM5_ENST00000382907.4_Missense_Mutation_p.G145V NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 145 nucleus zinc ion binding p.G145L(2) kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) GTTTTTAGTTCCAGGAAGTCC 0.368000 8 117 0.000157383 0.000188471 0.003080 1 0 PALM 5064 broad.mit.edu 37 19 746366 746366 + Missense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr19:746366C>A ENST00000264560.7 + 8 778 c.584C>A c.(583-585)gCg>gAg p.A195E PALM_ENST00000338448.5_Missense_Mutation_p.A239E|PALM_ENST00000606643.1_3'UTR NM_001040134.1 NP_001035224.1 O75781 PALM_HUMAN paralemmin 239 cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane p.A239E(1) endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201) ATCCACAAAGCGGACGAGGTC 0.697000 15 36 1.5739e-10 2.36695e-10 0.004007 1 0 HGF 3082 broad.mit.edu 37 7 81386504 81386504 + Splice_Site SNP C C T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr7:81386504C>T ENST00000222390.5 - 4 709 c.e4+1 HGF_ENST00000453018.1_Silent_p.R58R|HGF_ENST00000354224.6_Splice_Site|HGF_ENST00000453411.1_Splice_Site|HGF_ENST00000457544.2_Splice_Site|HGF_ENST00000444829.2_Splice_Site|HGF_ENST00000423064.2_Splice_Site NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity p.?(1) NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 ACTGTTCTTACCTGTGTTCGT 0.388000 15 42 0 0 0.004007 0 0 PLD5 200150 broad.mit.edu 37 1 242264084 242264084 + Splice_Site SNP T T A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr1:242264084T>A ENST00000442594.2 - 10 1473 c.963_splice c.e10-1 p.K322_splice PLD5_ENST00000427495.1_Splice_Site_p.K352_splice|PLD5_ENST00000536534.1_Splice_Site_p.K414_splice NM_152666.2 NP_689879.2 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 414 integral to membrane catalytic activity p.K322*(1)|p.K414*(1) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) TCAAAAAATTTCTGTAAGAAA 0.373000 18 77 0 0 0.007413 0 0 KIT 3815 broad.mit.edu 37 4 55569902 55569902 + Missense_Mutation SNP G G C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr4:55569902G>C ENST00000288135.5 + 5 866 c.769G>C c.(769-771)Gag>Cag p.E257Q NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 257 Ig-like C2-type 3. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity p.E257Q(1) NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TAAACTACAGGAGAAATATAA 0.343000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 5 46 0 0 0.000602 0 0 NLRP14 338323 broad.mit.edu 37 11 7063760 7063760 + Missense_Mutation SNP T T A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr11:7063760T>A ENST00000299481.4 + 4 849 c.503T>A c.(502-504)gTg>gAg p.V168E NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 168 cell differentiation|multicellular organismal development|spermatogenesis ATP binding p.V168E(1) breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TTGTTCGATGTGGATGTCAAA 0.468000 19 88 0 0 0.010504 0 0 PAPPA 5069 broad.mit.edu 37 9 118982243 118982243 + Missense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr9:118982243C>A ENST00000328252.3 + 5 2315 c.1946C>A c.(1945-1947)cCc>cAc p.P649H PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 649 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding p.P649H(1) NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TCCTTCACGCCCAATCAAGTC 0.587000 24 80 5.35356e-11 8.24278e-11 0.002780 1 0 WDFY3 23001 broad.mit.edu 37 4 85662997 85662997 + Missense_Mutation SNP G G A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr4:85662997G>A ENST00000322366.6 - 38 6558 c.6151C>T c.(6151-6153)Cgt>Tgt p.R2051C WDFY3_ENST00000295888.4_Missense_Mutation_p.R2051C Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2051 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding p.R2051C(1) breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TCCACCACACGCTGTGTGAAA 0.383000 9 90 0 0 0.008291 0 0 ZMYM5 9205 broad.mit.edu 37 13 20425888 20425888 + Nonsense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr13:20425888C>A ENST00000337963.4 - 3 697 c.433G>T c.(433-435)Gga>Tga p.G145* ZMYM5_ENST00000382905.4_Nonsense_Mutation_p.G145*|ZMYM5_ENST00000382907.4_Nonsense_Mutation_p.G145* NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 145 nucleus zinc ion binding p.G145L(2) kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) TTTTTAGTTCCAGGAAGTCCC 0.363000 8 118 0.000157383 0.000188471 0.003080 1 0 SCML2 10389 broad.mit.edu 37 X 18264732 18264732 + Missense_Mutation SNP T T A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chrX:18264732T>A ENST00000251900.4 - 13 1946 c.1787A>T c.(1786-1788)cAt>cTt p.H596L SCML2_ENST00000398048.3_Missense_Mutation_p.H332L NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 596 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.H596L(1) breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) TTTAACTTCATGGGGACTGCT 0.413000 19 93 0 0 0.007413 0 0 XYLT1 64131 broad.mit.edu 37 16 17211812 17211812 + Nonsense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr16:17211812C>A ENST00000261381.6 - 11 2332 c.2248G>T c.(2248-2250)Gag>Tag p.E750* NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 750 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity p.E750*(1) 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 AATAGCCTCTCCTTGGCATCC 0.572000 5 40 0.000602214 0.000695414 0.000602 1 0 PAN3 255967 broad.mit.edu 37 13 28854560 28854560 + Missense_Mutation SNP C C G rs141442348 TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr13:28854560C>G ENST00000399613.1 + 15 1664 c.1601C>G c.(1600-1602)aCt>aGt p.T534S PAN3_ENST00000380958.3_Missense_Mutation_p.T734S|PAN3_ENST00000282391.5_Missense_Mutation_p.T422S Q58A45 PAN3_HUMAN PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 734 Interaction with PAN2.|Protein kinase. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity p.T734S(1)|p.T534S(1) endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) TATTTGTTGACTGACCAAAAC 0.383000 3 85 0 0 0.004672 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103006491 103006491 + Silent SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr11:103006491G>T ENST00000375735.2 + 17 2532 c.2388G>T c.(2386-2388)cgG>cgT p.R796R DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.R796R NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 796 Stem (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AAGAAATCCGGGCTAAATATT 0.323000 9 29 3.09899e-07 4.26385e-07 0.004482 1 0 CASS4 57091 broad.mit.edu 37 20 55012297 55012297 + Silent SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr20:55012297G>T ENST00000371336.3 + 2 315 c.114G>T c.(112-114)ctG>ctT p.L38L CASS4_ENST00000434344.1_Silent_p.L38L|CASS4_ENST00000360314.3_Silent_p.L38L NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 38 SH3. cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity p.L38P(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 GGGACATCCTGACCATTCTGG 0.592000 8 71 1.67942e-08 2.41338e-08 0.006122 1 0 WDR17 116966 broad.mit.edu 37 4 177069485 177069485 + Splice_Site SNP T T C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr4:177069485T>C ENST00000393643.2 + 13 2148 c.1897_splice c.e13+1 p.Y632_splice WDR17_ENST00000507824.2_Splice_Site_p.Y639_splice|WDR17_ENST00000508596.1_Splice_Site_p.Y632_splice|WDR17_ENST00000280190.4_Splice_Site_p.Y656_splice NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 656 p.Y656Y(1) 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) CAGATGTATATGGTAGAGTGT 0.358000 12 47 0 0 0.001855 0 0 ASH1L 55870 broad.mit.edu 37 1 155408569 155408569 + Missense_Mutation SNP G G A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr1:155408569G>A ENST00000368346.3 - 5 6016 c.5377C>T c.(5377-5379)Cat>Tat p.H1793Y ASH1L_ENST00000392403.3_Missense_Mutation_p.H1793Y Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 1793 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding p.H1793Y(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TTGATATGATGGGGGGAACAG 0.443000 13 157 0 0 0.001855 0 0 TTN 7273 broad.mit.edu 37 2 179398651 179398651 + Missense_Mutation SNP C C T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr2:179398651C>T ENST00000589042.1 - 358 102915 c.102691G>A c.(102691-102693)Gaa>Aaa p.E34231K TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25291K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31663K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E32590K|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25358K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E25166K|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585358.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32590 Ser-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E25166K(1)|p.E31661K(1)|p.E31663K(1)|p.E25291K(1)|p.E25358K(1) 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) TCATAGACTTCTCTCACACCT 0.408000 7 46 0 0 0.003080 0 0 KEAP1 9817 broad.mit.edu 37 19 10600347 10600347 + Missense_Mutation SNP A A T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr19:10600347A>T ENST00000171111.5 - 4 2055 c.1508T>A c.(1507-1509)aTg>aAg p.M503K KEAP1_ENST00000393623.2_Missense_Mutation_p.M503K NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 503 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.M503K(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GATGGTGTTCATTGCTGTGAT 0.597000 22 49 0 0 0.003330 0 0 EMR2 30817 broad.mit.edu 37 19 14854511 14854511 + Silent SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr19:14854511G>T ENST00000315576.3 - 19 2720 c.2269C>A c.(2269-2271)Cgg>Agg p.R757R EMR2_ENST00000353876.1_Silent_p.R664R|EMR2_ENST00000346057.1_Silent_p.R708R|EMR2_ENST00000392967.2_Silent_p.R746R|EMR2_ENST00000392965.3_Silent_p.R699R|EMR2_ENST00000594076.1_Silent_p.R664R|EMR2_ENST00000601345.1_Silent_p.R746R|EMR2_ENST00000596991.2_Silent_p.R746R|EMR2_ENST00000595839.1_Silent_p.R615R|EMR2_ENST00000594294.1_Silent_p.R708R|EMR2_ENST00000353005.1_Silent_p.R615R NM_013447.2 NP_038475.2 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone receptor-like 2 757 cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.R757R(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 48 GCCATGACCCGGGCAGCCGGA 0.577000 44 67 5.48756e-27 9.42112e-27 0.011902 1 0 MT-CO1 4512 broad.mit.edu 37 MT 6054 6054 + Missense_Mutation SNP G G A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chrM:6054G>A ENST00000361624.2 + 1 151 c.151G>A c.(151-153)Gac>Aac p.51_51insN mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 TTCTAGGTAACGACCACATCT 0.478000 3 0 0 0 0.009096 0 0 MAP3K5 4217 broad.mit.edu 37 6 137041644 137041644 + Missense_Mutation SNP C C A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr6:137041644C>A ENST00000359015.4 - 2 892 c.532G>T c.(532-534)Gcc>Tcc p.A178S NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 178 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding p.A178S(1) NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) ATGTTGTTGGCCATGCTGAAA 0.458000 14 44 4.3838e-07 5.98914e-07 0.001855 1 0 NOL6 65083 broad.mit.edu 37 9 33469596 33469596 + Missense_Mutation SNP A A C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr9:33469596A>C ENST00000379471.2 - 5 715 c.628T>G c.(628-630)Ttg>Gtg p.L210V NOL6_ENST00000455041.2_Missense_Mutation_p.L150V|NOL6_ENST00000464829.1_5'UTR Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 210 rRNA processing condensed nuclear chromosome|nucleolus RNA binding p.L210V(1) endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) TGGTGAGCCAAGTGGGCCAGG 0.617000 4 129 0 0 0.000602 0 0 NRCAM 4897 broad.mit.edu 37 7 107823140 107823140 + Splice_Site SNP G G C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr7:107823140G>C ENST00000379028.3 - 23 2999 c.2530_splice c.e23+1 p.D843_splice NRCAM_ENST00000379024.4_Splice_Site_p.D824_splice|NRCAM_ENST00000351718.4_Splice_Site_p.D827_splice|NRCAM_ENST00000413765.2_Splice_Site_p.D824_splice|NRCAM_ENST00000379022.4_Splice_Site_p.D843_splice|NRCAM_ENST00000425651.2_Splice_Site_p.D843_splice Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 843 angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding p.D827E(1)|p.D843E(1) breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 ATCACTTACGGTCTTCTCCAG 0.522000 10 23 0 0 0.006214 0 0 NMUR2 56923 broad.mit.edu 37 5 151784153 151784153 + Silent SNP G G A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr5:151784153G>A ENST00000255262.3 - 1 687 c.522C>T c.(520-522)tcC>tcT p.S174S NMUR2_ENST00000518933.1_Intron NM_020167.4 NP_064552.3 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 174 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity p.S174S(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 44 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) AGAAGAGCACGGAGAAGCCCC 0.637000 11 75 0 0 0.001855 0 0 ZNF831 128611 broad.mit.edu 37 20 57768653 57768653 + Missense_Mutation SNP C C T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr20:57768653C>T ENST00000371030.2 + 1 2579 c.2579C>T c.(2578-2580)gCc>gTc p.A860V NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 860 intracellular nucleic acid binding|zinc ion binding p.A860V(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AAGCAGGATGCCGATCCCGGG 0.652000 4 85 0 0 0.009096 0 0 FAT3 120114 broad.mit.edu 37 11 92086791 92086791 + Missense_Mutation SNP G G C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr11:92086791G>C ENST00000298047.6 + 1 1530 c.1513G>C c.(1513-1515)Ggg>Cgg p.G505R FAT3_ENST00000525166.1_Missense_Mutation_p.G355R|FAT3_ENST00000541502.1_Missense_Mutation_p.G505R|FAT3_ENST00000409404.2_Missense_Mutation_p.G505R Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 505 Cadherin 5. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.G505R(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGGAGAAAATGGGTACATCAC 0.383000 TCGA Ovarian(4;0.039) 15 33 0 0 0.002450 0 0 ZNF804A 91752 broad.mit.edu 37 2 185731221 185731221 + Nonsense_Mutation SNP T T A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr2:185731221T>A ENST00000302277.6 + 2 831 c.237T>A c.(235-237)taT>taA p.Y79* NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 79 intracellular zinc ion binding p.Y79*(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TTAATTCATATGACCATGCTC 0.353000 4 63 0 0 0.009096 0 0 FAM83B 222584 broad.mit.edu 37 6 54735136 54735136 + Missense_Mutation SNP C C T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr6:54735136C>T ENST00000306858.7 + 2 208 c.92C>T c.(91-93)gCc>gTc p.A31V NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 31 p.A31V(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TATCGAGTAGCCATTGATATT 0.388000 25 106 0 0 0.003330 0 0 MOGAT3 346606 broad.mit.edu 37 7 100839574 100839574 + Silent SNP G G T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr7:100839574G>T ENST00000223114.4 - 6 931 c.765C>A c.(763-765)acC>acA p.T255T MOGAT3_ENST00000440203.2_Silent_p.T255T|MOGAT3_ENST00000379423.3_Intron NM_178176.2 NP_835470.1 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 255 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity p.T255T(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) GCTTCTTGAAGGTGAGCTGGC 0.582000 4 21 0.000602214 0.000695414 0.000602 1 0 IGHV1-58 28464 broad.mit.edu 37 14 107078583 107078583 + RNA SNP G G C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr14:107078583G>C ENST00000390628.2 - 0 201 AGCTAGTAAAGGTGAATCCAG 0.562000 17 31 0 0 0.007413 0 0 PSPH 5723 broad.mit.edu 37 7 56087408 56087408 + Missense_Mutation SNP C C G TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr7:56087408C>G ENST00000395471.3 - 5 965 c.160G>C c.(160-162)Ggg>Cgg p.G54R PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.G54R P78330 SERB_HUMAN phosphoserine phosphatase 54 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity p.G54R(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1) 11 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GGCACTGCCCCGCCCATGGCT 0.617000 3 27 0 0 0.009096 0 0 TENM4 26011 broad.mit.edu 37 11 78412983 78412983 + Nonsense_Mutation SNP G G A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr11:78412983G>A ENST00000278550.7 - 28 5137 c.4675C>T c.(4675-4677)Cga>Tga p.R1559* NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 p.R1559*(4) AACCGAATTCGGATGTTCCCA 0.488000 4 91 0 0 0.009096 0 0 NIFK 84365 broad.mit.edu 37 2 122488515 122488515 + Missense_Mutation SNP C C G TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr2:122488515C>G ENST00000285814.4 - 4 590 c.518G>C c.(517-519)aGg>aCg p.R173T NM_032390.4 NP_115766.3 Q9BYG3 MK67I_HUMAN 173 protein complex assembly|rRNA metabolic process|rRNA transcription condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding p.R173T(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1) 12 TAATTTCTTCCTGAGTAATCT 0.393000 12 116 0 0 0.001855 0 0 KIAA1549 57670 broad.mit.edu 37 7 138603645 138603645 + Missense_Mutation SNP C C G TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr7:138603645C>G ENST00000440172.1 - 2 775 c.727G>C c.(727-729)Gtt>Ctt p.V243L KIAA1549_ENST00000242365.4_Missense_Mutation_p.V193L|KIAA1549_ENST00000422774.1_Missense_Mutation_p.V243L NM_001164665.1|NM_020910.2 NP_001158137.1|NP_065961.2 Q9HCM3 K1549_HUMAN KIAA1549 243 integral to membrane p.V193L(1)|p.V243L(1) KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 GGAGTTGGAACGATGCCCTCA 0.522000 O BRAF pilocytic astrocytoma 17 64 0 0 0.004990 0 0 MAGEL2 54551 broad.mit.edu 37 15 23889141 23889141 + Silent SNP T T C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr15:23889141T>C ENST00000532292.1 - 1 2034 c.1940A>G c.(1939-1941)tAa>tGa p.*647* NM_019066.4 NP_061939.3 MAGE-like 2 p.*647*(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) CTACACCTATTAGCGGGGAGG 0.587000 5 22 0 0 0.000602 0 0 BAP1 8314 broad.mit.edu 37 3 52437180 52437180 + Missense_Mutation SNP A A T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr3:52437180A>T ENST00000460680.1 - 14 2335 c.1864T>A c.(1864-1866)Ttg>Atg p.L622M BAP1_ENST00000296288.5_Missense_Mutation_p.L604M NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 622 Interaction with BRCA1. monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.L622M(1) NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) TCCCCACTCAAGGGCTCGCCA 0.602000 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 4 38 0 0 0.004482 0 0 VARS 7407 broad.mit.edu 37 6 31751989 31751989 + Splice_Site SNP A A G TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr6:31751989A>G ENST00000375663.3 - 13 2112 c.e13+1 VARS_ENST00000444930.2_Splice_Site NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity p.?(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) ACAGTCCCCCACCTGGTATCT 0.572000 9 164 0 0 0.006214 0 0 EXTL3 2137 broad.mit.edu 37 8 28574048 28574048 + Nonsense_Mutation SNP C C T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr8:28574048C>T ENST00000220562.4 + 3 1374 c.472C>T c.(472-474)Cga>Tga p.R158* EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 158 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding p.R158*(1) biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) CCTGCCCATCCGACTGCTCCC 0.602000 3 45 0 0 0.004672 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149221870 149221870 + Nonsense_Mutation SNP C C T TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr5:149221870C>T ENST00000309241.5 + 10 2778 c.2746C>T c.(2746-2748)Cga>Tga p.R916* PPARGC1B_ENST00000360453.4_Nonsense_Mutation_p.R877*|PPARGC1B_ENST00000394320.3_Nonsense_Mutation_p.R916*|PPARGC1B_ENST00000403750.1_Nonsense_Mutation_p.R852* NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 916 RRM. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity p.R916*(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CATGAGCTCCCGAGAGCTGAA 0.532000 8 53 0 0 0.008291 0 0 RENBP 5973 broad.mit.edu 37 X 153209788 153209788 + Missense_Mutation SNP A A C TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chrX:153209788A>C ENST00000393700.3 - 2 190 c.110T>G c.(109-111)aTg>aGg p.M37R RENBP_ENST00000412763.1_Missense_Mutation_p.M37R|RENBP_ENST00000369997.3_Missense_Mutation_p.M37R NM_002910.5 NP_002901.2 P51606 RENBP_HUMAN renin binding protein 37 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity p.M27R(1)|p.M37R(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) GGAGTGCTCCATCCAGAAAGC 0.622000 14 83 0 0 0.003163 0 0 RNASEH1-AS1 100506054 broad.mit.edu 37 2 3608112 3608131 + RNA DEL TTCCTTCCTTCCTTCCTTCT TTCCTTCCTTCCTTCCTTCT - rs66497914 by1000genomes TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr2:3608112_3608131delTTCCTTCCTTCCTTCCTTCT ENST00000438436.1 + 0 789 AC108488.3_ENST00000426725.1_RNA NR_038429.1 ccttccttccttccttccttccttccttcttctttccttc 0.405 2 4 --- --- --- --- ACTR2 10097 broad.mit.edu 37 2 65473856 65473859 + Frame_Shift_Del DEL AGAG AGAG - TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr2:65473856_65473859delAGAG ENST00000260641.5 + 3 515_518 c.358_361delAGAG c.(358-363)agfs p.RE120fs ACTR2_ENST00000542850.1_Frame_Shift_Del_p.RE65fs|ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000377982.4_Frame_Shift_Del_p.RE125fs NM_005722.3 NP_005713.1 P61160 ARP2_HUMAN ARP2 actin-related protein 2 homolog (yeast) 120 cellular component movement Arp2/3 protein complex|cell projection|cytoplasm actin binding|ATP binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1) 12 AACCAAAAACAGAGAGAAGATTGT 0.338 9 130 --- --- --- --- CASC6 101929083 broad.mit.edu 37 6 92356678 92356679 + RNA DEL AA AA - rs56890015 TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr6:92356678_92356679delAA ENST00000437768.1 - 0 263 aattttagccAAAAAAAAAAAA 0.337 2 4 --- --- --- --- TNRC18 84629 broad.mit.edu 37 7 5352636 5352638 + In_Frame_Del DEL GAG GAG - TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr7:5352636_5352638delGAG ENST00000399537.4 - 27 8232_8234 c.7884_7886delCTC c.(7882-7887)tca>tc p.SS2670del TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2670del O15417 TNC18_HUMAN trinucleotide repeat containing 18 2670 Ser-rich. DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) agaggaggatgaggaggaggagg 0.650 2 4 --- --- --- --- TNRC18 84629 broad.mit.edu 37 7 5430007 5430011 + Frame_Shift_Del DEL AAAAG AAAAG - rs34840801 TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr7:5430007_5430011delAAAAG ENST00000399434.2 - 3 528_532 c.370_374delCTTTT c.(370-375)tfs p.LF124fs TNRC18_ENST00000399537.4_Intron|TNRC18_ENST00000430969.1_Intron O15417 TNC18_HUMAN trinucleotide repeat containing 18 0 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) aaaaaaaaaaaaaaGCCAGCATCCT 0.546 2 4 --- --- --- --- MACC1 346389 broad.mit.edu 37 7 20198725 20198726 + Frame_Shift_Ins INS - - A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr7:20198725_20198726insA ENST00000400331.5 - 5 1566_1567 c.1258_1259insT c.(1258-1260)gggfs p.G420fs MACC1_ENST00000589011.1_Frame_Shift_Ins_p.G420fs|MACC1_ENST00000332878.4_Frame_Shift_Ins_p.G420fs NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 420 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 CTGCTTCCCCCAGAGCTGAAAC 0.356 8 52 --- --- --- --- PIK3CG 5294 broad.mit.edu 37 7 106509606 106509606 + Frame_Shift_Del DEL C C - TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr7:106509606delC ENST00000359195.3 + 2 1910 c.1600delC c.(1600-1602)ccfs p.P534fs PIK3CG_ENST00000440650.2_Frame_Shift_Del_p.P534fs|PIK3CG_ENST00000496166.1_Frame_Shift_Del_p.P534fs NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 534 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 TAAGCATCAGCCCACCCCTGA 0.537 19 68 --- --- --- --- KLHL28 54813 broad.mit.edu 37 14 45414728 45414728 + Frame_Shift_Del DEL C C - TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr14:45414728delC ENST00000396128.4 - 2 523 c.404delG c.(403-405)gtfs p.G135fs KLHL28_ENST00000355081.2_Frame_Shift_Del_p.G149fs NM_017658.3 NP_060128.2 Q9NXS3 KLH28_HUMAN kelch-like family member 28 135 breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 AATACAATTACCAGGATCAAG 0.408 9 62 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81183625 81183628 + RNA DEL TTTT TTTT - rs11296516 TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr16:81183625_81183628delTTTT ENST00000533478.1 - 0 2609 PKD1L2_ENST00000525539.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TTGTTCACACtttttttttttttt 0.466 2 4 --- --- --- --- HOXB8 3218 broad.mit.edu 37 17 46690610 46690611 + Frame_Shift_Ins INS - - A TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr17:46690610_46690611insA ENST00000239144.4 - 2 919_920 c.685_686insT c.(685-687)agafs p.R229fs HOXB7_ENST00000567101.1_Intron|HOXB8_ENST00000576562.1_Frame_Shift_Ins_p.R228fs NM_024016.3 NP_076921.1 P17481 HXB8_HUMAN homeobox B8 229 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(8)|urinary_tract(2) 11 CGCCGCCTCTGGGGCCCGCTCC 0.644 23 120 --- --- --- --- KCTD1 284252 broad.mit.edu 37 18 24128325 24128327 + In_Frame_Del DEL TCC TCC - TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr18:24128325_24128327delTCC ENST00000417602.1 - 1 173_175 c.174_176delGGA c.(172-177)gaa>ga p.EE62del KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000317932.7_Intron NM_001142730.2 NP_001136202.1 Q719H9 KCTD1_HUMAN potassium channel tetramerization domain containing 1 0 BTB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|voltage-gated potassium channel complex transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3) 12 all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848) Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05) ctcctcctcttcctcctcctcct 0.724 4 3 --- --- --- --- LDLR 3949 broad.mit.edu 37 19 11242055 11242077 + Frame_Shift_Del DEL ATTCAAAGACAGAGAAGACCAAA ATTCAAAGACAGAGAAGACCAAA - TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr19:11242055_11242077delATTCAAAGACAGAGAAGACCAAA ENST00000557933.1 + 18 2795_2817 c.2708_2730delATTCAAAGACAGAGAAGACCAAA c.(2707-2730)tfs p.YSKTEKTK903fs LDLR_ENST00000545707.1_3'UTR|LDLR_ENST00000455727.2_3'UTR|LDLR_ENST00000558518.1_3'UTR|LDLR_ENST00000560628.1_Intron|LDLR_ENST00000535915.1_3'UTR|LDLR_ENST00000558013.1_3'UTR P01130 LDLR_HUMAN low density lipoprotein receptor 0 cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) GCCTTGTTTTATTCAAAGACAGAGAAGACCAAAGCATTGCCTG 0.511 OREG0025249 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 48 --- --- --- --- CTC-559E9.6 0 broad.mit.edu 37 19 19944580 19944580 + RNA DEL T T - TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr19:19944580delT ENST00000591884.1 + 0 520 ATGTTTAATCttttttttttt 0.378 2 4 --- --- --- --- SIK1 150094 broad.mit.edu 37 21 44841183 44841184 + Frame_Shift_Ins INS - - G TCGA-49-4506-01A-01D-1265-08 TCGA-49-4506-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx d707f8ad-5ea5-493a-a745-9b5dba64f213 b8fa1b54-140b-4a50-bc72-604fe25b0f32 g.chr21:44841183_44841184insG ENST00000270162.6 - 6 695_696 c.563_564insC c.(562-564)ctafs p.L188fs NM_173354.3 NP_775490.2 P57059 SIK1_HUMAN salt-inducible kinase 1 188 Protein kinase. anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1) 21 GGGCGGCATACGGGGGGCTCCC 0.589 16 92 --- --- --- ---