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 TFRC 7037 broad.mit.edu 37 3 195791225 195791225 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr3:195791225G>C ENST00000360110.4 - 11 1442 c.1273C>G c.(1273-1275)Ctc>Gtc p.L425V TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.L425V|TFRC_ENST00000535031.1_Missense_Mutation_p.L143V|TFRC_ENST00000420415.1_Missense_Mutation_p.L344V NM_001128148.1 NP_001121620.1 P02786 TFR1_HUMAN transferrin receptor 425 cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) TTCAATAGGAGAGCTGTGCCT 0.413000 T BCL6 NHL 24 58 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49724213 49724213 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr3:49724213C>T ENST00000449682.2 - 7 1112 c.751G>A c.(751-753)Gac>Aac p.D251N MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.D176N|MST1_ENST00000545762.1_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 237 Kringle 2. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CAATAGTTGTCGTCCAGACCT 0.622000 4 6 0 0 1 0 0 TCF4 6925 broad.mit.edu 37 18 52937170 52937170 + Missense_Mutation SNP C C A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr18:52937170C>A ENST00000354452.3 - 11 1425 c.814G>T c.(814-816)Gac>Tac p.D272Y TCF4_ENST00000561831.3_Missense_Mutation_p.D112Y|TCF4_ENST00000566286.1_Missense_Mutation_p.D270Y|TCF4_ENST00000567880.1_Missense_Mutation_p.D212Y|TCF4_ENST00000398339.1_Missense_Mutation_p.D374Y|TCF4_ENST00000565018.2_Missense_Mutation_p.D272Y|TCF4_ENST00000537856.3_Missense_Mutation_p.D142Y|TCF4_ENST00000543082.1_Missense_Mutation_p.D230Y|TCF4_ENST00000540999.1_Missense_Mutation_p.D248Y|TCF4_ENST00000568673.1_Missense_Mutation_p.D248Y|TCF4_ENST00000564403.2_Missense_Mutation_p.D278Y|TCF4_ENST00000570287.2_Missense_Mutation_p.D112Y|TCF4_ENST00000544241.2_Missense_Mutation_p.D201Y|TCF4_ENST00000564228.1_Missense_Mutation_p.D201Y|TCF4_ENST00000570177.2_Missense_Mutation_p.D142Y|TCF4_ENST00000564999.1_Missense_Mutation_p.D272Y|TCF4_ENST00000537578.1_Missense_Mutation_p.D248Y|TCF4_ENST00000568740.1_Missense_Mutation_p.D247Y|TCF4_ENST00000356073.4_Missense_Mutation_p.D272Y|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000566279.1_Missense_Mutation_p.D212Y|TCF4_ENST00000561992.1_Missense_Mutation_p.D142Y|TCF4_ENST00000457482.3_Missense_Mutation_p.D112Y NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 272 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) GAATTGATGTCTGCTGAGGAG 0.433000 20 63 1.50039e-11 1.60929e-11 1 1 0 SAP30BP 29115 broad.mit.edu 37 17 73663532 73663532 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr17:73663532G>C ENST00000584667.1 + 1 337 c.80G>C c.(79-81)gGa>gCa p.G27A SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.G27A NM_013260.6 NP_037392.1 Q9UHR5 S30BP_HUMAN SAP30 binding protein 27 apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1) 17 all_cancers(13;6.42e-08) all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GGCGAGGCTGGAATCGAGGCG 0.627000 6 31 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35583708 35583708 + Silent SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr8:35583708C>T ENST00000287272.2 + 9 1155 c.1135C>T c.(1135-1137)Ctg>Ttg p.L379L UNC5D_ENST00000404895.2_Silent_p.L448L|UNC5D_ENST00000420357.1_Silent_p.L381L|UNC5D_ENST00000416672.1_Silent_p.L453L|UNC5D_ENST00000449677.1_Silent_p.L24L|UNC5D_ENST00000453357.2_Silent_p.L443L Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 448 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GCAGCCAGATCTGACAGTGAG 0.488000 8 50 0 0 1 0 0 HLA-DMB 3109 broad.mit.edu 37 6 32906744 32906744 + Splice_Site SNP T T C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr6:32906744T>C ENST00000416244.2 - 2 250 c.e2-2 XXbac-BPG181M17.5_ENST00000429234.1_Splice_Site|HLA-DMB_ENST00000418107.2_Splice_Site P28068 DMB_HUMAN major histocompatibility complex, class II, DM beta antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 CGAAGCCACCTAGAGGAGCCA 0.403000 10 48 0 0 1 0 0 SYT9 143425 broad.mit.edu 37 11 7437293 7437293 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr11:7437293G>C ENST00000318881.6 + 4 1302 c.1065G>C c.(1063-1065)gaG>gaC p.E355D NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 355 C2 2. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) ATCTGGGAGAGCTGATGTTTT 0.468000 16 49 0 0 1 0 0 RNF168 165918 broad.mit.edu 37 3 196198834 196198834 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr3:196198834C>G ENST00000318037.3 - 6 2166 c.1572G>C c.(1570-1572)aaG>aaC p.K524N NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase 524 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) TCAACTGCATCTTTAAAGACA 0.418000 147 159 0 0 1 0 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26236190 26236190 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr7:26236190C>G ENST00000354667.4 - 6 768 c.600G>C c.(598-600)agG>agC p.R200S HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.R188S NM_031243.2 NP_112533.1 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 200 RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 CTCTTCCACTCCTAGAACTCT 0.368000 T ETV1 prostate 47 144 0 0 1 0 0 ZNF516 9658 broad.mit.edu 37 18 74091295 74091295 + Silent SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr18:74091295G>A ENST00000443185.2 - 4 3092 c.2775C>T c.(2773-2775)ttC>ttT p.F925F ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CGCTCCTGCTGAAGCCCCCGC 0.726000 6 39 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 449888 449888 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr9:449888G>C ENST00000432829.2 + 45 6034 c.5718G>C c.(5716-5718)caG>caC p.Q1906H DOCK8_ENST00000469391.1_Missense_Mutation_p.Q1874H|DOCK8_ENST00000453981.1_Missense_Mutation_p.Q1974H|DOCK8_ENST00000382329.1_Missense_Mutation_p.Q1441H NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1974 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) AGATGCTTCAGATGGTGCTGC 0.458000 23 38 0 0 1 0 0 KCNAB2 8514 broad.mit.edu 37 1 6150528 6150528 + Silent SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr1:6150528G>A ENST00000164247.1 + 10 1059 c.495G>A c.(493-495)ccG>ccA p.P165P KCNAB2_ENST00000458166.2_Silent_p.P98P|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000602612.1_Silent_p.P165P|KCNAB2_ENST00000378083.3_Silent_p.P198P|KCNAB2_ENST00000378092.1_Silent_p.P151P|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000352527.1_Silent_p.P151P|KCNAB2_ENST00000341524.1_Silent_p.P165P|KCNAB2_ENST00000378097.1_Silent_p.P165P NM_001199860.1 NP_001186789.1 Q13303 KCAB2_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 2 165 cytoplasm|integral to membrane|juxtaparanode region of axon oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity large_intestine(1)|lung(4)|skin(3) 8 Ovarian(185;0.0634) all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649) CCAACACCCCGATGGAAGGTA 0.667000 4 12 0 0 1 0 0 ZNF714 148206 broad.mit.edu 37 19 21299711 21299711 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr19:21299711G>C ENST00000596143.1 + 5 566 c.241G>C c.(241-243)Gag>Cag p.E81Q ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron NM_182515.3 NP_872321 Q96N38 ZN714_HUMAN zinc finger protein 714 81 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 ATGTGAACATGAGAATTTACA 0.383000 8 20 0 0 1 0 0 ZNF219 51222 broad.mit.edu 37 14 21560084 21560084 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr14:21560084C>T ENST00000360947.3 - 3 1783 c.1372G>A c.(1372-1374)Gag>Aag p.E458K ZNF219_ENST00000451119.2_Missense_Mutation_p.E458K|RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000421093.2_Missense_Mutation_p.E458K NM_016423.2 NP_057507.2 Q9P2Y4 ZN219_HUMAN zinc finger protein 219 458 negative regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2) 8 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08) GBM - Glioblastoma multiforme(265;0.0191) CCCGGTCCCTCACCCGGGCGC 0.701000 4 13 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 4 63 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33954872 33954872 + Missense_Mutation SNP T T C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr15:33954872T>C ENST00000389232.4 + 35 5211 c.5141T>C c.(5140-5142)gTa>gCa p.V1714A RYR3_ENST00000415757.3_Missense_Mutation_p.V1714A NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1714 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CGAGACCCTGTAGGGGGGTCT 0.567000 12 35 0 0 1 0 0 FOXB2 442425 broad.mit.edu 37 9 79634744 79634744 + Silent SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr9:79634744G>A ENST00000376708.1 + 1 174 c.174G>A c.(172-174)caG>caA p.Q58Q NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 58 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|lung(8)|ovary(1) 10 AGCGCTGGCAGAACAGCCTGC 0.612000 9 26 0 0 1 0 0 KEAP1 9817 broad.mit.edu 37 19 10610576 10610576 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr19:10610576G>A ENST00000171111.5 - 2 681 c.134C>T c.(133-135)tCc>tTc p.S45F KEAP1_ENST00000393623.2_Missense_Mutation_p.S45F NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 45 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding 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) GCCATGCTGGGAGGGCGTCAC 0.637000 27 48 0 0 1 0 0 ACBD5 91452 broad.mit.edu 37 10 27508685 27508685 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr10:27508685C>T ENST00000396271.3 - 6 718 c.592G>A c.(592-594)Gaa>Aaa p.E198K ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375897.3_Missense_Mutation_p.E89K|ACBD5_ENST00000375905.4_Missense_Mutation_p.E163K|ACBD5_ENST00000375888.1_Missense_Mutation_p.E207K|ACBD5_ENST00000375901.1_Missense_Mutation_p.E89K NM_001271512.1|NM_145698.3 NP_001258441.1|NP_663736.2 Q5T8D3 ACBD5_HUMAN acyl-CoA binding domain containing 5 207 transport integral to membrane|peroxisomal membrane fatty-acyl-CoA binding breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1) 13 TTCACTTCTTCTTGGGCCTCT 0.398000 7 76 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64422337 64422337 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr6:64422337C>G ENST00000262043.3 + 16 5193 c.4853C>G c.(4852-4854)tCt>tGt p.S1618C PHF3_ENST00000393387.1_Missense_Mutation_p.S1618C Q92576 PHF3_HUMAN PHD finger protein 3 1618 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) CCATGCAGATCTAATGTAGGA 0.373000 12 39 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39914374 39914374 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr1:39914374G>C ENST00000564288.1 + 84 20974 c.20197G>C c.(20197-20199)Gac>Cac p.D6733H MACF1_ENST00000317713.7_Missense_Mutation_p.D4674H|MACF1_ENST00000289893.4_Missense_Mutation_p.D5176H|MACF1_ENST00000361689.2_Missense_Mutation_p.D4674H|MACF1_ENST00000567887.1_Missense_Mutation_p.D6770H|MACF1_ENST00000545844.1_Missense_Mutation_p.D4674H|MACF1_ENST00000539005.1_Missense_Mutation_p.D4544H|MACF1_ENST00000372915.3_Missense_Mutation_p.D6632H Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6740 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCAGAAACTTGACAATTTCCT 0.473000 18 55 0 0 1 0 0 PKDCC 91461 broad.mit.edu 37 2 42282494 42282494 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr2:42282494G>A ENST00000294964.5 + 5 1363 c.1183G>A c.(1183-1185)Ggg>Agg p.G395R PKDCC_ENST00000480099.1_Intron NM_138370.2 NP_612379.2 Q504Y2 PKDCC_HUMAN protein kinase domain containing, cytoplasmic 395 Protein kinase. cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport Golgi apparatus ATP binding|protein kinase activity breast(2)|kidney(1)|lung(5) 8 GTACCGGAGCGGGCAGTATCT 0.622000 5 22 0 0 1 0 0 TUBB6 84617 broad.mit.edu 37 18 12325598 12325598 + Silent SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr18:12325598C>T ENST00000317702.5 + 4 1044 c.810C>T c.(808-810)ttC>ttT p.F270F TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron Q9BUF5 TBB6_HUMAN tubulin, beta 6 class V 270 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1) 14 READ - Rectum adenocarcinoma(1;0.0649) TGCCTGGCTTCGCGCCGCTCA 0.682000 19 31 0 0 1 0 0 KANSL1 284058 broad.mit.edu 37 17 44144948 44144948 + Missense_Mutation SNP C C A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr17:44144948C>A ENST00000262419.6 - 5 2089 c.1619G>T c.(1618-1620)gGa>gTa p.G540V KANSL1_ENST00000572904.1_Missense_Mutation_p.G540V|KANSL1_ENST00000575318.1_Missense_Mutation_p.G540V|KANSL1_ENST00000432791.1_Missense_Mutation_p.G540V|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Missense_Mutation_p.G540V NM_001193466.1 NP_001180395 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 540 MLL1 complex protein binding TCTGAGTGCTCCACATGATTT 0.393000 9 36 0.000673444 0.000688985 1 1 0 CEP97 79598 broad.mit.edu 37 3 101484366 101484366 + Nonsense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr3:101484366C>T ENST00000341893.3 + 11 3321 c.2569C>T c.(2569-2571)Cag>Tag p.Q857* CEP97_ENST00000327230.4_Nonsense_Mutation_p.Q883*|CEP97_ENST00000494050.1_Nonsense_Mutation_p.Q798* Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 857 centrosome|nucleus protein binding cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 TTCTACATTTCAGCTATTGCA 0.378000 38 71 0 0 1 0 0 GRHL2 79977 broad.mit.edu 37 8 102570814 102570814 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr8:102570814C>T ENST00000251808.3 + 4 790 c.452C>T c.(451-453)cCg>cTg p.P151L GRHL2_ENST00000395927.1_Missense_Mutation_p.P135L NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 151 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) GCCATCATCCCGGTGTCGGGA 0.532000 28 61 0 0 1 0 0 PDE4C 5143 broad.mit.edu 37 19 18333084 18333084 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr19:18333084G>C ENST00000355502.3 - 6 1163 c.292C>G c.(292-294)Cag>Gag p.Q98E PDE4C_ENST00000594465.3_Missense_Mutation_p.Q98E|PDE4C_ENST00000262805.12_Missense_Mutation_p.Q66E|PDE4C_ENST00000447275.3_5'UTR|PDE4C_ENST00000594617.3_Missense_Mutation_p.Q98E Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 98 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) GGGCTGGACTGAGGGTCCAGG 0.612000 12 15 0 0 1 0 0 HNRNPL 3191 broad.mit.edu 37 19 39328285 39328285 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr19:39328285C>T ENST00000221419.5 - 11 1930 c.1564G>A c.(1564-1566)Gat>Aat p.D522N AC104534.3_ENST00000594769.1_Silent_p.A138A|HNRNPL_ENST00000600873.1_Missense_Mutation_p.D389N NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 522 nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) CCCAGCTCATCGCAGATCTGC 0.498000 5 14 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93563473 93563473 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr15:93563473G>C ENST00000394196.4 + 38 6206 c.5138G>C c.(5137-5139)aGa>aCa p.R1713T CHD2_ENST00000557381.1_Missense_Mutation_p.R1713T NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1713 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) CGGGGACACAGAGATTATTAT 0.493000 12 29 0 0 1 0 0 PLCD3 113026 broad.mit.edu 37 17 43195727 43195727 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr17:43195727G>C ENST00000322765.5 - 6 1159 c.1046C>G c.(1045-1047)tCt>tGt p.S349C PLCD3_ENST00000540511.1_5'UTR NM_133373.3 NP_588614.1 Q8N3E9 PLCD3_HUMAN phospholipase C, delta 3 349 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) GTGGGAGGAAGAGATGAAGTA 0.572000 17 24 0 0 1 0 0 CD83 9308 broad.mit.edu 37 6 14131771 14131771 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr6:14131771G>C ENST00000379153.3 + 3 345 c.174G>C c.(172-174)gaG>gaC p.E58D NM_001040280.1|NM_001251901.1|NM_004233.3 NP_001035370.1|NP_001238830.1|NP_004224.1 Q01151 CD83_HUMAN CD83 molecule 58 Ig-like V-type. defense response|humoral immune response|signal transduction integral to plasma membrane breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1) 12 Breast(50;0.00245)|Ovarian(93;0.137) all_hematologic(90;0.117) GTGGTGAAGAGAGGATGGAGA 0.512000 11 32 0 0 1 0 0 GABPB2 126626 broad.mit.edu 37 1 151079548 151079548 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr1:151079548G>C ENST00000368918.3 + 7 1103 c.772G>C c.(772-774)Gac>Cac p.D258H GABPB2_ENST00000368916.1_Missense_Mutation_p.D220H|GABPB2_ENST00000368917.1_Missense_Mutation_p.D220H|GABPB2_ENST00000467551.1_3'UTR NM_144618.2 NP_653219.1 Q8TAK5 GABP2_HUMAN GA binding protein transcription factor, beta subunit 2 258 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) AAATTCCGTTGACTCATCAAT 0.393000 14 29 0 0 1 0 0 CPN1 1369 broad.mit.edu 37 10 101823405 101823405 + Silent SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr10:101823405G>A ENST00000370418.3 - 5 1088 c.837C>T c.(835-837)atC>atT p.I279I NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 279 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) CCCCATTGGTGATGCCATCTG 0.493000 6 43 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152733513 152733513 + Silent SNP G G T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr1:152733513G>T ENST00000368773.1 + 2 1507 c.1449G>T c.(1447-1449)gcG>gcT p.A483A KPRP_ENST00000606109.1_Silent_p.A483A NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 483 Pro-rich. cytoplasm p.A483A(1) NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCCTGCCGGCGCCCTGCCCAA 0.657000 13 61 9.31168e-06 9.63777e-06 1 1 0 NPC1L1 29881 broad.mit.edu 37 7 44579768 44579768 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr7:44579768C>G ENST00000289547.4 - 2 283 c.228G>C c.(226-228)aaG>aaC p.K76N NPC1L1_ENST00000381160.3_Missense_Mutation_p.K76N|NPC1L1_ENST00000546276.1_Missense_Mutation_p.K76N|NPC1L1_ENST00000423141.1_Missense_Mutation_p.K76N NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 76 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GGGGGCAGATCTTCTGTAATA 0.597000 12 20 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 70880886 70880886 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr7:70880886G>A ENST00000333538.5 + 4 1235 c.601G>A c.(601-603)Gtc>Atc p.V201I WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 201 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GGAGCTGAAGGTCCCCCTAGA 0.498000 7 23 0 0 1 0 0 MAP3K14 9020 broad.mit.edu 37 17 43344950 43344950 + RNA SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr17:43344950G>C ENST00000344686.2 - 0 2254 MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 14 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TCTGGTGGGAGAGGAGGCTGG 0.637000 4 30 0 0 1 0 0 PIP4K2C 79837 broad.mit.edu 37 12 57995323 57995323 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr12:57995323C>G ENST00000354947.5 + 10 1216 c.1200C>G c.(1198-1200)atC>atG p.I400M PIP4K2C_ENST00000550465.1_Missense_Mutation_p.I382M|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.I352M|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.I400M Q8TBX8 PI42C_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, gamma 400 PIPK. cytoplasm|membrane 1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Melanoma(17;0.122) GGGCAGAGATCTCTACTGTCC 0.532000 31 51 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151162973 151162973 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr3:151162973C>T ENST00000282466.3 - 4 4795 c.4796G>A c.(4795-4797)gGc>gAc p.G1599D NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1599 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTCGGACAGGCCTGTAGTAGC 0.443000 39 99 0 0 1 0 0 CNBD2 140894 broad.mit.edu 37 20 34583058 34583058 + Silent SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr20:34583058G>A ENST00000373973.3 + 8 1127 c.954G>A c.(952-954)ctG>ctA p.L318L CNBD2_ENST00000349339.1_Silent_p.L318L|CNBD2_ENST00000538900.1_Silent_p.L318L cyclic nucleotide binding domain containing 2 GCAGACCTCTGAAGACCCACC 0.592000 OREG0025897 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 27 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 5 90 0 0 1 0 0 TTC17 55761 broad.mit.edu 37 11 43429035 43429035 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr11:43429035C>G ENST00000039989.4 + 15 1986 c.1972C>G c.(1972-1974)Ctt>Gtt p.L658V TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.L658V NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 658 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 AGATGTTCCTCTTGTCAACTT 0.443000 13 19 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25310189 25310189 + RNA SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr15:25310189C>G ENST00000549804.2 + 0 538 SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA ATGATGAGTCCTCCAAAAAAA 0.483000 9 87 0 0 1 0 0 HAS2 3037 broad.mit.edu 37 8 122627250 122627250 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr8:122627250G>A ENST00000303924.4 - 4 1295 c.758C>T c.(757-759)tCa>tTa p.S253L NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 253 integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) GCTGAGGAATGAGATCCAGGA 0.388000 22 49 0 0 1 0 0 ELOVL1 64834 broad.mit.edu 37 1 43830026 43830026 + Nonsense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr1:43830026C>T ENST00000372458.3 - 7 704 c.587G>A c.(586-588)tGg>tAg p.W196* ELOVL1_ENST00000413844.2_Nonsense_Mutation_p.W169*|ELOVL1_ENST00000470769.1_5'UTR NM_001256399.1|NM_001256402.1|NM_022821.3 NP_001243328.1|NP_001243331.1|NP_073732.1 Q9BW60 ELOV1_HUMAN ELOVL fatty acid elongase 1 196 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|prostate(1) 4 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CTTTTTCCACCAAAGGTAGGG 0.502000 20 128 0 0 1 0 0 CEP89 84902 broad.mit.edu 37 19 33439190 33439190 + Nonsense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr19:33439190G>A ENST00000305768.5 - 5 665 c.577C>T c.(577-579)Cag>Tag p.Q193* CEP89_ENST00000590597.2_Nonsense_Mutation_p.Q193* NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 TGTGTCCGCTGTGGTGCAGGA 0.328000 7 15 0 0 1 0 0 PCYOX1L 78991 broad.mit.edu 37 5 148745677 148745677 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr5:148745677G>A ENST00000514349.1 + 3 952 c.373G>A c.(373-375)Gcc>Acc p.A125T PCYOX1L_ENST00000274569.4_Missense_Mutation_p.A215T Q8NBM8 PCYXL_HUMAN prenylcysteine oxidase 1 like 215 prenylcysteine catabolic process extracellular region oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTCCTGCGGGCCAGCTATGG 0.602000 12 14 0 0 1 0 0 HSPA9 3313 broad.mit.edu 37 5 137902694 137902694 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr5:137902694C>G ENST00000297185.3 - 8 1000 c.875G>C c.(874-876)aGa>aCa p.R292T NM_004134.6 NP_004125.3 P38646 GRP75_HUMAN heat shock 70kDa protein 9 (mortalin) 292 anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ACTCACCTCTCTCTTGAACTC 0.423000 24 110 0 0 1 0 0 FGF8 2253 broad.mit.edu 37 10 103530308 103530308 + Silent SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr10:103530308C>T ENST00000347978.2 - 5 595 c.426G>A c.(424-426)caG>caA p.Q142Q FGF8_ENST00000320185.2_Silent_p.Q171Q|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000346714.3_Silent_p.Q131Q|FGF8_ENST00000344255.3_Silent_p.Q160Q NM_006119.4 NP_006110.1 P55075 FGF8_HUMAN fibroblast growth factor 8 (androgen-induced) 160 bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation extracellular region|extracellular space growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2) 5 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) ACTTGGCATTCTGCAGCGCTG 0.602000 12 29 0 0 1 0 0 PSMD2 5708 broad.mit.edu 37 3 184026668 184026668 + Missense_Mutation SNP A A G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr3:184026668A>G ENST00000310118.4 + 21 3275 c.2717A>G c.(2716-2718)tAt>tGt p.Y906C EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Missense_Mutation_p.Y747C|PSMD2_ENST00000439383.1_Missense_Mutation_p.Y776C NM_002808.3 NP_002799.3 Q13200 PSMD2_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 906 LRKNPNYDL -> FGRTPIMISK (in Ref. 3 and 4). anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2) 27 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) AACCCCAATTATGATCTCTAA 0.537000 OREG0015948 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 71 0 0 1 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79734607 79734607 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr5:79734607C>G ENST00000338008.5 + 3 2283 c.2103C>G c.(2101-2103)ttC>ttG p.F701L ZFYVE16_ENST00000505560.1_Missense_Mutation_p.F701L|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.F701L NM_001284236.1|NM_014733.3 NP_001271165.1|NP_055548 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 701 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) AGGTTAGCTTCAACTCTAATT 0.388000 11 52 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50463995 50463995 + Nonsense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr2:50463995G>A ENST00000404971.1 - 19 4937 c.3598C>T c.(3598-3600)Cag>Tag p.Q1200* NRXN1_ENST00000401710.1_Nonsense_Mutation_p.Q178*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.Q1152*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.Q1152*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.Q1160*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.Q1160*|NRXN1_ENST00000342183.5_Nonsense_Mutation_p.Q125*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.Q1160* NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1160 Laminin G-like 6. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GCTTCTTTCTGAACAGTGCTA 0.443000 16 32 0 0 1 0 0 MATK 4145 broad.mit.edu 37 19 3781620 3781620 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr19:3781620C>G ENST00000310132.6 - 8 1125 c.727G>C c.(727-729)Gag>Cag p.E243Q MATK_ENST00000585778.1_Missense_Mutation_p.E243Q|MATK_ENST00000395040.2_Missense_Mutation_p.E202Q|MATK_ENST00000395045.2_Missense_Mutation_p.E244Q NM_139355.2 NP_647612.1 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase 243 Protein kinase. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) AACTCTCCCTCTCCGATCTGT 0.557000 13 35 0 0 1 0 0 EAF2 55840 broad.mit.edu 37 3 121591444 121591444 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr3:121591444C>G ENST00000273668.2 + 5 616 c.545C>G c.(544-546)tCc>tGc p.S182C EAF2_ENST00000451944.2_Missense_Mutation_p.S182C NM_018456.4 NP_060926.2 Q96CJ1 EAF2_HUMAN ELL associated factor 2 182 Necessary for transactivation activity.|Ser-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1) 9 GBM - Glioblastoma multiforme(114;0.0972) TCATCAGATTCCAAAAGTTCA 0.363000 34 96 0 0 1 0 0 SPATA17 128153 broad.mit.edu 37 1 217915359 217915359 + Silent SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr1:217915359G>A ENST00000366933.4 + 6 493 c.438G>A c.(436-438)gaG>gaA p.E146E NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 146 cytoplasm calmodulin binding endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) AAAGAGAAGAGAAGAAGGCTA 0.408000 6 25 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 169999206 169999206 + Silent SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr2:169999206C>T ENST00000263816.3 - 71 13371 c.13086G>A c.(13084-13086)ggG>ggA p.G4362G NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4362 EGF-like 16. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CAGTGGTGCTCCCCTCTATAA 0.572000 9 43 0 0 1 0 0 TBC1D4 9882 broad.mit.edu 37 13 75933907 75933907 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr13:75933907G>C ENST00000377636.3 - 3 1514 c.1168C>G c.(1168-1170)Cag>Gag p.Q390E TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.Q390E|TBC1D4_ENST00000377625.2_Missense_Mutation_p.Q390E NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 390 PID 2. cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) ATACATACCTGAGAACAAGAG 0.313000 13 15 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50130617 50130617 + RNA SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chrX:50130617C>G ENST00000376025.2 - 0 2112 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) TTTACAATATCAACCACAAAA 0.388000 4 12 0 0 1 0 0 CYP19A1 1588 broad.mit.edu 37 15 51507277 51507277 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr15:51507277C>G ENST00000396402.1 - 8 1164 c.1011G>C c.(1009-1011)caG>caC p.Q337H RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Missense_Mutation_p.Q337H|CYP19A1_ENST00000260433.2_Missense_Mutation_p.Q337H|CYP19A1_ENST00000559878.1_Missense_Mutation_p.Q337H NM_000103.3 NP_000094.2 P11511 CP19A_HUMAN cytochrome P450, family 19, subfamily A, polypeptide 1 337 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 33 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) CAATAACAGTCTGGATTTCCT 0.333000 6 18 0 0 1 0 0 SAG 6295 broad.mit.edu 37 2 234235785 234235785 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr2:234235785G>C ENST00000409110.1 + 7 684 c.454G>C c.(454-456)Gag>Cag p.E152Q SAG_ENST00000449594.2_Missense_Mutation_p.E18Q NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 152 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) GGTTGACTTTGAGGTCAAAGC 0.592000 14 58 0 0 1 0 0 GEMIN5 25929 broad.mit.edu 37 5 154284173 154284173 + Missense_Mutation SNP C C A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr5:154284173C>A ENST00000285873.7 - 18 2601 c.2526G>T c.(2524-2526)aaG>aaT p.K842N NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 842 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GAGCTTTTCTCTTCTTGATTA 0.403000 10 41 1.08611e-07 1.13296e-07 1 1 0 YPEL1 29799 broad.mit.edu 37 22 22064977 22064977 + Silent SNP T T C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr22:22064977T>C ENST00000339468.3 - 2 440 c.57A>G c.(55-57)cgA>cgG p.R19R YPEL1_ENST00000403503.1_Silent_p.R19R NM_013313.3 NP_037445.1 O60688 YPEL1_HUMAN yippee-like 1 (Drosophila) 19 nucleus breast(1)|large_intestine(1)|lung(1) 3 Colorectal(54;0.105) AGCTGTACGTTCGGTGACAGT 0.493000 66 194 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12476781 12476781 + Silent SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr1:12476781G>A ENST00000358136.3 + 65 12364 c.12234G>A c.(12232-12234)ttG>ttA p.L4078L VPS13D_ENST00000356315.4_Silent_p.L4053L|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000543766.1_Silent_p.L76L NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 4077 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TGGGGCTTTTGAATGATGTTT 0.468000 15 59 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51174261 51174261 + Silent SNP G G A rs143548629 TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr16:51174261G>A ENST00000440970.1 - 2 2012 c.1581C>T c.(1579-1581)agC>agT p.S527S SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.S624S NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 624 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CACTCTCTTCGCTTTTGCCAC 0.642000 11 26 0 0 1 0 0 UNC45A 55898 broad.mit.edu 37 15 91496789 91496789 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr15:91496789C>T ENST00000394275.2 + 23 3468 c.2633C>T c.(2632-2634)tCg>tTg p.S878L AC068831.6_ENST00000553321.1_RNA|UNC45A_ENST00000418476.2_Missense_Mutation_p.S893L NM_001039675.1 NP_001034764.1 Q9H3U1 UN45A_HUMAN unc-45 homolog A (C. elegans) 893 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GTGGAGGCCTCGAGGGAGATT 0.602000 32 75 0 0 1 0 0 ZNF516 9658 broad.mit.edu 37 18 74091033 74091033 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr18:74091033G>C ENST00000443185.2 - 4 3354 c.3037C>G c.(3037-3039)Ctg>Gtg p.L1013V ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 1013 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CAGGTGGCCAGAGTCCTCAGC 0.716000 4 27 0 0 1 0 0 UBASH3A 53347 broad.mit.edu 37 21 43829601 43829601 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr21:43829601C>T ENST00000319294.6 + 3 269 c.238C>T c.(238-240)Cca>Tca p.P80S UBASH3A_ENST00000291535.6_Missense_Mutation_p.P80S|UBASH3A_ENST00000450356.1_Missense_Mutation_p.P80S|UBASH3A_ENST00000398367.1_Missense_Mutation_p.P80S NM_018961.3 NP_061834.1 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing A 80 cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 TTTCCTCTGTCCAACGGGGCC 0.552000 11 68 0 0 1 0 0 CHMP4B 128866 broad.mit.edu 37 20 32438816 32438816 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr20:32438816G>A ENST00000217402.2 + 3 592 c.427G>A c.(427-429)Gag>Aag p.E143K NM_176812.4 NP_789782.1 Q9H444 CHM4B_HUMAN charged multivesicular body protein 4B 143 cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 AGAACTTGCAGAGGAGATTTC 0.413000 19 53 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61778138 61778138 + Silent SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr8:61778138G>A ENST00000423902.2 + 38 9119 c.8640G>A c.(8638-8640)ccG>ccA p.P2880P CHD7_ENST00000524602.1_Silent_p.P831P NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2880 P -> L (in IHH). central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CTACTGCCCCGGCTGGATTGC 0.537000 8 54 0 0 1 0 0 RHO 6010 broad.mit.edu 37 3 129247849 129247849 + Silent SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr3:129247849C>T ENST00000296271.3 + 1 367 c.273C>T c.(271-273)ttC>ttT p.F91F NM_000539.3 NP_000530.1 P08100 OPSD_HUMAN rhodopsin 91 protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 22 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) TAGGTGGCTTCACCAGCACCC 0.587000 33 66 0 0 1 0 0 RPH3A 22895 broad.mit.edu 37 12 113266187 113266187 + Nonsense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr12:113266187C>T ENST00000389385.4 + 3 561 c.64C>T c.(64-66)Caa>Taa p.Q22* RPH3A_ENST00000447659.2_Nonsense_Mutation_p.Q22*|RPH3A_ENST00000548866.1_Nonsense_Mutation_p.Q22*|RPH3A_ENST00000551052.1_Nonsense_Mutation_p.Q22*|RPH3A_ENST00000543106.2_Nonsense_Mutation_p.Q22*|RPH3A_ENST00000415485.3_Nonsense_Mutation_p.Q22*|RPH3A_ENST00000420983.2_Nonsense_Mutation_p.Q22* NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 22 intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) CCGGCCCCTTCAATCAAAGTA 0.448000 14 51 0 0 1 0 0 CYP8B1 1582 broad.mit.edu 37 3 42917105 42917105 + Silent SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr3:42917105G>A ENST00000316161.4 - 1 528 c.204C>T c.(202-204)ttC>ttT p.F68F RP11-141M3.5_ENST00000471537.1_RNA|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Silent_p.F68F NM_004391.2 NP_004382.2 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, polypeptide 1 68 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) GCTGCACTGTGAACACATCCC 0.527000 9 32 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109793200 109793200 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr1:109793200C>G ENST00000271332.3 + 1 560 c.499C>G c.(499-501)Ctg>Gtg p.L167V NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 167 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) AGAAGAGTCCCTGGGTGGGCG 0.642000 15 19 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51569553 51569553 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr8:51569553G>A ENST00000522124.1 + 14 1595 c.934G>A c.(934-936)Ggc>Agc p.G312S SNTG1_ENST00000517473.1_Missense_Mutation_p.G312S|SNTG1_ENST00000276467.5_Missense_Mutation_p.G312S|SNTG1_ENST00000518864.1_Missense_Mutation_p.G312S NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 312 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GGCCCTGAGGGGCTCATGTCT 0.488000 13 70 0 0 1 0 0 TRIM24 8805 broad.mit.edu 37 7 138269679 138269679 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr7:138269679C>T ENST00000343526.4 + 19 3351 c.3136C>T c.(3136-3138)Cgc>Tgc p.R1046C TRIM24_ENST00000415680.2_Missense_Mutation_p.R1012C O15164 TIF1A_HUMAN tripartite motif containing 24 1046 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 CATTGAAGAACGCCAGTTGCT 0.343000 13 49 0 0 1 0 0 SLC19A3 80704 broad.mit.edu 37 2 228552263 228552263 + Silent SNP T T A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr2:228552263T>A ENST00000258403.3 - 6 1412 c.1341A>T c.(1339-1341)gcA>gcT p.A447A SLC19A3_ENST00000541617.1_Silent_p.A443A|SLC19A3_ENST00000409287.1_Intron NM_025243.3 NP_079519.1 Q9BZV2 S19A3_HUMAN solute carrier family 19 (thiamine transporter), member 3 447 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity p.A447A(1) breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3) 30 Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236) Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125) L-Cysteine(DB00151) CAGCAATTACTGCAAAATAGC 0.353000 8 40 0 0 1 0 0 PFN3 345456 broad.mit.edu 37 5 176827232 176827232 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr5:176827232C>T ENST00000358571.2 - 1 405 c.346G>A c.(346-348)Gta>Ata p.V116I NM_001029886.2 NP_001025057.1 P60673 PROF3_HUMAN profilin 3 116 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin binding lung(1) 1 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCCCATGTACGCCGCGTCGG 0.726000 4 19 0 0 1 0 0 ZNF516 9658 broad.mit.edu 37 18 74091117 74091117 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr18:74091117G>A ENST00000443185.2 - 4 3270 c.2953C>T c.(2953-2955)Cca>Tca p.P985S ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 985 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GCAGGAGGTGGACCCTGAGGC 0.657000 7 33 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124838695 124838695 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr12:124838695G>A ENST00000356219.3 - 28 3813 c.3658C>T c.(3658-3660)Ccc>Tcc p.P1220S NCOR2_ENST00000405201.1_Missense_Mutation_p.P1213S|NCOR2_ENST00000404121.2_Missense_Mutation_p.P774S|NCOR2_ENST00000429285.2_Missense_Mutation_p.P1203S|NCOR2_ENST00000404621.1_Missense_Mutation_p.P1203S|NCOR2_ENST00000397355.1_Missense_Mutation_p.P1204S NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1221 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CGTGTGCTGGGAATGCCTTTG 0.642000 5 2 0 0 1 0 0 SLC30A6 55676 broad.mit.edu 37 2 32409378 32409378 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr2:32409378G>C ENST00000282587.5 + 5 292 c.255G>C c.(253-255)ttG>ttC p.L85F SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000379343.2_Missense_Mutation_p.L125F|SLC30A6_ENST00000435660.1_Missense_Mutation_p.L85F|SLC30A6_ENST00000538303.1_Missense_Mutation_p.L56F|SLC30A6_ENST00000406369.1_Missense_Mutation_p.L11F NM_017964.3 NP_060434.2 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), member 6 85 Golgi membrane|integral to membrane zinc ion transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GGGTAACATTGAGGAAACCTA 0.259000 9 18 0 0 1 0 0 MEPCE 56257 broad.mit.edu 37 7 100028723 100028723 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr7:100028723G>A ENST00000310512.2 + 1 1470 c.1082G>A c.(1081-1083)cGa>cAa p.R361Q MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 361 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCCTCCTCCCGACATCGCAAA 0.637000 26 107 0 0 1 0 0 GALNT3 2591 broad.mit.edu 37 2 166616039 166616039 + Missense_Mutation SNP T T C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr2:166616039T>C ENST00000392701.3 - 5 1655 c.880A>G c.(880-882)Ata>Gta p.I294V GALNT3_ENST00000409882.1_Missense_Mutation_p.I32V NM_004482.3 NP_004473.2 Q14435 GALT3_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) 294 protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1) 20 TTCTCAGCTATTCTGGCCAAC 0.368000 6 25 0 0 1 0 0 VPS4B 9525 broad.mit.edu 37 18 61078764 61078764 + Silent SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr18:61078764C>G ENST00000238497.5 - 2 278 c.75G>C c.(73-75)ggG>ggC p.G25G VPS4B_ENST00000591519.1_Silent_p.G25G NM_004869.3 NP_004860.2 O75351 VPS4B_HUMAN vacuolar protein sorting 4 homolog B (S. cerevisiae) 25 MIT. cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane ATP binding|ATPase activity, coupled|protein C-terminus binding breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 13 CTTCGTAGTTCCCAGCCTTGT 0.383000 8 42 0 0 1 0 0 FSCB 84075 broad.mit.edu 37 14 44975863 44975863 + Nonsense_Mutation SNP C C A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr14:44975863C>A ENST00000340446.4 - 1 619 c.328G>T c.(328-330)Gag>Tag p.E110* NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 110 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) TGAACACTCTCTGGCAATTCA 0.418000 59 95 6.60958e-23 7.20552e-23 1 1 0 PRRC2A 7916 broad.mit.edu 37 6 31590590 31590590 + Silent SNP T T C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr6:31590590T>C ENST00000376033.2 + 2 258 c.24T>C c.(22-24)acT>acC p.T8T PRRC2A_ENST00000376007.4_Silent_p.T8T|PRRC2A_ENST00000469577.1_Intron NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 8 cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CGGGGCCGACTGCCAAGGGAA 0.552000 19 145 0 0 1 0 0 PIGG 54872 broad.mit.edu 37 4 515727 515727 + Silent SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr4:515727G>A ENST00000453061.2 + 8 1717 c.1611G>A c.(1609-1611)agG>agA p.R537R PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000536264.1_3'UTR|PIGG_ENST00000504346.1_Silent_p.R448R|PIGG_ENST00000509768.1_Silent_p.R448R|PIGG_ENST00000310340.5_Silent_p.R529R|PIGG_ENST00000503111.1_3'UTR|PIGG_ENST00000383028.4_Silent_p.R404R NM_001127178.1 NP_001120650.1 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 537 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 ACACCCCAAGGAAGGTACGTA 0.562000 4 15 0 0 1 0 0 MAP3K7 6885 broad.mit.edu 37 6 91269806 91269806 + Silent SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr6:91269806C>G ENST00000369329.3 - 5 632 c.471G>C c.(469-471)ctG>ctC p.L157L MAP3K7_ENST00000369332.3_Silent_p.L157L|MAP3K7_ENST00000369327.3_Silent_p.L157L|MAP3K7_ENST00000369325.3_Silent_p.L157L NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 157 Protein kinase. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) TTGGTGGTTTCAGGTCCCTGT 0.473000 11 37 0 0 1 0 0 NOX5 79400 broad.mit.edu 37 15 69328165 69328165 + Silent SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr15:69328165C>T ENST00000260364.5 + 8 1324 c.1023C>T c.(1021-1023)ggC>ggT p.G341G NOX5_ENST00000388866.3_Silent_p.G359G|NOX5_ENST00000530406.2_Silent_p.G331G|NOX5_ENST00000455873.3_Silent_p.G324G|NOX5_ENST00000448182.3_Silent_p.G313G Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 359 Ferric oxidoreductase. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 CGAGGCCTGGCATTGGCTGGG 0.607000 28 61 0 0 1 0 0 KLB 152831 broad.mit.edu 37 4 39448278 39448278 + Silent SNP G G T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr4:39448278G>T ENST00000257408.4 + 4 2029 c.1932G>T c.(1930-1932)ccG>ccT p.P644P NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 644 Glycosyl hydrolase-1 2. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 TGTATTATCCGACCCACGCCC 0.647000 23 27 7.87624e-14 8.48211e-14 1 1 0 POLI 11201 broad.mit.edu 37 18 51813712 51813712 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr18:51813712G>C ENST00000579534.1 + 8 1272 c.1129G>C c.(1129-1131)Gag>Cag p.E377Q POLI_ENST00000406285.3_Missense_Mutation_p.E298Q|POLI_ENST00000579434.1_Missense_Mutation_p.E274Q|POLI_ENST00000217800.5_Missense_Mutation_p.E251Q|POLI_ENST00000582366.1_3'UTR NM_007195.2 NP_009126.2 Q9UNA4 POLI_HUMAN polymerase (DNA directed) iota 377 DNA binding. DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) GTATTCCTCTGAGAAGCACTA 0.388000 DNA polymerases (catalytic subunits) 4 9 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155451167 155451167 + Silent SNP C C T rs140507023 byFrequency TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr6:155451167C>T ENST00000461783.3 + 6 2083 c.810C>T c.(808-810)ccC>ccT p.P270P TIAM2_ENST00000318981.5_Silent_p.P270P|TIAM2_ENST00000529824.2_Silent_p.P270P|TIAM2_ENST00000456144.1_Silent_p.P270P|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Silent_p.P270P Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 270 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TCCTGGCCCCCGGCATGCCTG 0.607000 22 36 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8789561 8789561 + Missense_Mutation SNP C C A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr17:8789561C>A ENST00000447110.1 - 14 2237 c.2113G>T c.(2113-2115)Gcc>Tcc p.A705S PIK3R5_ENST00000581552.1_Missense_Mutation_p.A705S|PIK3R5_ENST00000584803.1_Missense_Mutation_p.A704S NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 705 Interaction with G beta gamma proteins (By similarity). platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 GCCTTGATGGCACGTGTGGCA 0.612000 6 17 0.248553 0.24949 1 1 0 TAGAP 117289 broad.mit.edu 37 6 159457377 159457377 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr6:159457377C>T ENST00000367066.3 - 10 2009 c.1678G>A c.(1678-1680)Gaa>Aaa p.E560K RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.E382K|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA NM_001278733.1|NM_054114.3 NP_001265662.1|NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 560 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TTGTGGGTTTCACACCCATTT 0.607000 15 73 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 6 15 0 0 1 0 0 SLC4A11 83959 broad.mit.edu 37 20 3214831 3214831 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr20:3214831G>A ENST00000380059.3 - 5 651 c.550C>T c.(550-552)Cgc>Tgc p.R184C SLC4A11_ENST00000380056.3_Missense_Mutation_p.R157C|SLC4A11_ENST00000539553.2_Missense_Mutation_p.R141C NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 157 cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 GCGAAGCGGCGAAGCATGGTC 0.637000 13 53 0 0 1 0 0 SMCHD1 23347 broad.mit.edu 37 18 2673303 2673303 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr18:2673303G>A ENST00000320876.6 + 4 786 c.448G>A c.(448-450)Gac>Aac p.D150N SMCHD1_ENST00000261598.8_Missense_Mutation_p.D150N NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 150 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 GGAATTAATTGACAATTCATT 0.323000 5 15 0 0 1 0 0 SLC4A9 83697 broad.mit.edu 37 5 139751849 139751849 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr5:139751849G>A ENST00000230993.6 + 20 2800 c.2765G>A c.(2764-2766)cGa>cAa p.R922Q CTC-329D1.2_ENST00000507521.1_RNA|SLC4A9_ENST00000432095.2_Missense_Mutation_p.R884Q|SLC4A9_ENST00000507527.1_Missense_Mutation_p.R922Q|SLC4A9_ENST00000506545.1_Missense_Mutation_p.R835Q|SLC4A9_ENST00000506757.2_Missense_Mutation_p.R898Q NM_001258428.1 NP_001245357.1 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 9 922 Membrane (anion exchange). integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGGGGTCCGAAAGGCCCTG 0.542000 11 9 0 0 1 0 0 MCM2 4171 broad.mit.edu 37 3 127335797 127335797 + Nonsense_Mutation SNP G G T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr3:127335797G>T ENST00000265056.7 + 10 1853 c.1609G>T c.(1609-1611)Gag>Tag p.E537* NM_004526.2 NP_004517.2 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 537 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 chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 CAAGTATATTGAGAAAGTGTC 0.597000 39 72 1.49673e-21 1.62502e-21 1 1 0 ZNF821 55565 broad.mit.edu 37 16 71898823 71898823 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr16:71898823C>T ENST00000425432.1 - 5 674 c.295G>A c.(295-297)Gaa>Aaa p.E99K ZNF821_ENST00000564134.1_Missense_Mutation_p.E99K|ZNF821_ENST00000446827.2_Missense_Mutation_p.E57K|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000565601.1_Missense_Mutation_p.E99K|ZNF821_ENST00000564943.1_Intron|ZNF821_ENST00000313565.6_Missense_Mutation_p.E57K NM_001201552.1 NP_001188481.1 O75541 ZN821_HUMAN zinc finger protein 821 99 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2) 13 TCTACCACTTCGTTCCCACCA 0.547000 12 58 0 0 1 0 0 MED26 9441 broad.mit.edu 37 19 16687484 16687484 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr19:16687484G>A ENST00000263390.3 - 3 1419 c.1157C>T c.(1156-1158)tCa>tTa p.S386L CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.S394L NM_004831.3 NP_004822.2 O95402 MED26_HUMAN mediator complex subunit 26 386 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1) 8 CGAGCCCCCTGAGGAGGCAGC 0.647000 9 16 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 422131 422131 + Missense_Mutation SNP G G T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr9:422131G>T ENST00000432829.2 + 33 4349 c.4033G>T c.(4033-4035)Gat>Tat p.D1345Y DOCK8_ENST00000469391.1_Missense_Mutation_p.D1313Y|DOCK8_ENST00000453981.1_Missense_Mutation_p.D1413Y|DOCK8_ENST00000493666.2_3'UTR|DOCK8_ENST00000382329.1_Missense_Mutation_p.D880Y NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1413 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TGAGAAGCTAGATAAGTGAGT 0.418000 18 18 5.35267e-07 5.56176e-07 1 1 0 SLC30A8 169026 broad.mit.edu 37 8 118183350 118183350 + Silent SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr8:118183350C>T ENST00000427715.2 + 10 1194 c.760C>T c.(760-762)Ctg>Ttg p.L254L SLC30A8_ENST00000456015.2_Silent_p.L303L|SLC30A8_ENST00000521243.1_Silent_p.L254L|SLC30A8_ENST00000519688.1_Silent_p.L254L NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 303 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) TGTGCACAGCCTGCACATCTG 0.453000 15 66 0 0 1 0 0 CHAF1A 10036 broad.mit.edu 37 19 4409115 4409115 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr19:4409115G>A ENST00000301280.5 + 3 420 c.319G>A c.(319-321)Gaa>Aaa p.E107K NM_005483.2 NP_005474 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 107 Binds to CBX1 chromo shadow domain. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding p.E107K(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) AAATAGAATCGAAACCAGTAT 0.423000 Chromatin Structure 18 88 0 0 1 0 0 YWHAG 7532 broad.mit.edu 37 7 75959465 75959465 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr7:75959465G>C ENST00000307630.3 - 2 395 c.173C>G c.(172-174)tCt>tGt p.S58C NM_012479.3 NP_036611.2 P61981 1433G_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide 58 G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity cytosol insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 8 CCTCCAGGAAGAGCGGCGTGC 0.532000 38 52 0 0 1 0 0 C12orf71 728858 broad.mit.edu 37 12 27234163 27234163 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr12:27234163G>A ENST00000429849.2 - 2 784 c.754C>T c.(754-756)Cac>Tac p.H252Y NM_001080406.1 NP_001073875.1 A8MTZ7 CL071_HUMAN chromosome 12 open reading frame 71 252 endometrium(2)|large_intestine(1)|lung(4)|skin(1) 8 TTGCCTCTGTGAAAGAGTCTT 0.438000 3 40 0 0 1 0 0 NUDT16L1 84309 broad.mit.edu 37 16 4745075 4745075 + Silent SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr16:4745075C>G ENST00000304301.6 + 3 564 c.531C>G c.(529-531)ctC>ctG p.L177L NUDT16L1_ENST00000586252.1_Intron|NUDT16L1_ENST00000586536.1_3'UTR|NUDT16L1_ENST00000405142.1_3'UTR NM_032349.3 NP_115725.1 Q9BRJ7 SDOS_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1 177 Interaction with PXN (By similarity). cytoplasm hydrolase activity endometrium(1)|large_intestine(1)|lung(1)|skin(1) 4 TCTTTGCCCTCAAGGTGCTCA 0.617000 25 39 0 0 1 0 0 AP1M2 10053 broad.mit.edu 37 19 10687928 10687928 + Silent SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr19:10687928G>A ENST00000590923.1 - 9 1082 c.999C>T c.(997-999)agC>agT p.S333S AP1M2_ENST00000250244.6_Silent_p.S331S Q9Y6Q5 AP1M2_HUMAN adaptor-related protein complex 1, mu 2 subunit 331 MHD. cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1) 9 Epithelial(33;1.58e-05)|all cancers(31;6.36e-05) CATACTTGGCGCTGCCCACAC 0.567000 9 10 0 0 1 0 0 CEP78 84131 broad.mit.edu 37 9 80881568 80881568 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr9:80881568G>C ENST00000424347.2 + 15 2297 c.2008G>C c.(2008-2010)Gag>Cag p.E670Q CEP78_ENST00000277082.5_Missense_Mutation_p.E670Q|CEP78_ENST00000376598.2_Missense_Mutation_p.E686Q|CEP78_ENST00000415759.2_Missense_Mutation_p.E671Q|CEP78_ENST00000376597.4_Missense_Mutation_p.E687Q Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa 670 G2/M transition of mitotic cell cycle centrosome|cytosol breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 21 AAGAAAAGAAGAGGAGTTGTC 0.428000 6 15 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116339422 116339422 + Missense_Mutation SNP G G T rs66652208 TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr7:116339422G>T ENST00000397752.3 + 2 484 c.284G>T c.(283-285)tGt>tTt p.C95F MET_ENST00000318493.6_Missense_Mutation_p.C95F|MET_ENST00000436117.2_Missense_Mutation_p.C95F NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 95 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CACCCAGATTGTTTCCCATGT 0.433000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 20 64 4.96729e-08 5.20197e-08 1 1 0 HTR4 3360 broad.mit.edu 37 5 147889125 147889125 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr5:147889125G>A ENST00000360693.3 - 6 1108 c.970C>T c.(970-972)Ctc>Ttc p.L324F HTR4_ENST00000517929.1_Missense_Mutation_p.L324F|HTR4_ENST00000314512.6_Missense_Mutation_p.L324F|HTR4_ENST00000521735.1_Missense_Mutation_p.L324F|HTR4_ENST00000354217.2_Missense_Mutation_p.L324F|HTR4_ENST00000377888.3_Missense_Mutation_p.L324F|HTR4_ENST00000521530.1_Missense_Mutation_p.L324F|HTR4_ENST00000520514.1_Missense_Mutation_p.L324F|HTR4_ENST00000362016.2_Missense_Mutation_p.L338F NM_001040173.2 NP_001035263.1 Q13639 5HT4R_HUMAN 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 324 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) AGGATGATGAGGAAGGCACGT 0.493000 11 26 0 0 1 0 0 COG5 10466 broad.mit.edu 37 7 106843966 106843966 + Nonsense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr7:106843966G>A ENST00000347053.3 - 21 2565 c.2515C>T c.(2515-2517)Cag>Tag p.Q839* COG5_ENST00000297135.3_Nonsense_Mutation_p.Q860* NM_181733.2 NP_859422.2 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 839 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 TGTCATTACTGAAGAGCAGAC 0.383000 15 38 0 0 1 0 0 MRPL17 63875 broad.mit.edu 37 11 6704519 6704519 + Silent SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr11:6704519C>T ENST00000288937.6 - 1 113 c.9G>A c.(7-9)ctG>ctA p.L3L NM_022061.3 NP_071344.1 Q9NRX2 RM17_HUMAN mitochondrial ribosomal protein L17 3 translation ribosome protein domain specific binding|structural constituent of ribosome lung(4) 4 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CAGCGACCGACAGCCGCATGT 0.622000 OREG0020719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 4 0 0 1 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202531973 202531973 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr1:202531973C>T ENST00000608999.1 + 20 2728 c.2575C>T c.(2575-2577)Cgt>Tgt p.R859C PPP1R12B_ENST00000367270.4_Missense_Mutation_p.R85C|PPP1R12B_ENST00000290419.5_3'UTR|PPP1R12B_ENST00000391959.3_Missense_Mutation_p.R85C|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.R859C NM_001197131.1|NM_002481.3 NP_001184060.1|NP_002472.2 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory subunit 12B regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(75;0.166) AGCAAGAGCCCGTCGGGAGGC 0.483000 43 65 0 0 1 0 0 C3orf70 285382 broad.mit.edu 37 3 184870586 184870586 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr3:184870586G>A ENST00000335012.2 - 1 216 c.26C>T c.(25-27)tCg>tTg p.S9L NM_001025266.1 NP_001020437.1 A6NLC5 CC070_HUMAN chromosome 3 open reading frame 70 9 breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1) 13 ACCCCGCTCCGACGCCGGCGA 0.711000 5 16 0 0 1 0 0 PRICKLE1 144165 broad.mit.edu 37 12 42866199 42866199 + Silent SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr12:42866199C>G ENST00000455697.1 - 2 405 c.120G>C c.(118-120)ctG>ctC p.L40L PRICKLE1_ENST00000445766.2_Silent_p.L40L|PRICKLE1_ENST00000345127.3_Silent_p.L40L|PRICKLE1_ENST00000552240.1_Silent_p.L40L|PRICKLE1_ENST00000548696.1_Silent_p.L40L NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 40 PET. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) GCTCTGGTCTCAGGCCCGGGG 0.458000 12 10 0 0 1 0 0 LY6H 4062 broad.mit.edu 37 8 144240221 144240221 + Splice_Site SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr8:144240221G>A ENST00000414417.2 - 4 482 c.249C>T c.(247-249)agC>agT p.S83S LY6H_ENST00000342752.4_Splice_Site_p.S83S|LY6H_ENST00000430474.2_Splice_Site_p.S62S NM_001130478.1 NP_001123950.1 O94772 LY6H_HUMAN lymphocyte antigen 6 complex, locus H 62 UPAR/Ly6. nervous system development|organ morphogenesis anchored to membrane|plasma membrane endometrium(1)|lung(1)|stomach(2) 4 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CCAACTTACTGCTGCTGGGAT 0.602000 25 59 0 0 1 0 0 PHC2 1912 broad.mit.edu 37 1 33795721 33795721 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr1:33795721C>T ENST00000257118.5 - 12 2149 c.2096G>A c.(2095-2097)cGg>cAg p.R699Q PHC2_ENST00000431992.1_Missense_Mutation_p.R670Q|PHC2_ENST00000419414.2_Missense_Mutation_p.R700Q|PHC2_ENST00000373422.3_Missense_Mutation_p.R305Q|PHC2_ENST00000373416.1_Missense_Mutation_p.R164Q|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373418.3_Missense_Mutation_p.R164Q NM_198040.2 NP_932157.1 Q8IXK0 PHC2_HUMAN polyhomeotic homolog 2 (Drosophila) 699 multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) TTTGCTGGCCCGACGGCGGTT 0.602000 4 17 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42004227 42004227 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr7:42004227G>A ENST00000395925.3 - 15 4528 c.4444C>T c.(4444-4446)Cca>Tca p.P1482S GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 1482 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 TTAGCACCTGGGGAAAGTAAC 0.532000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 22 29 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69954213 69954213 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr10:69954213G>C ENST00000358913.5 + 14 3507 c.3019G>C c.(3019-3021)Gaa>Caa p.E1007Q MYPN_ENST00000354393.2_Missense_Mutation_p.E732Q|MYPN_ENST00000540630.1_Missense_Mutation_p.E1007Q NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 1007 Ig-like 3.|Interaction with ACTN. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 TCTGCACATTGAATCCACTAC 0.502000 3 26 0 0 1 0 0 C17orf104 284071 broad.mit.edu 37 17 42744939 42744939 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr17:42744939G>C ENST00000409122.2 + 5 1802 c.1660G>C c.(1660-1662)Gaa>Caa p.E554Q C17orf104_ENST00000359945.3_Missense_Mutation_p.E554Q|C17orf104_ENST00000409464.1_Missense_Mutation_p.E388Q NM_001145080.2 NP_001138552.2 A2RUB1 CQ104_HUMAN chromosome 17 open reading frame 104 554 autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1) 24 CAGTGGTGCAGAAAGAATCCA 0.343000 4 18 0 0 1 0 0 ZNF516 9658 broad.mit.edu 37 18 74091111 74091111 + Missense_Mutation SNP G G T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr18:74091111G>T ENST00000443185.2 - 4 3276 c.2959C>A c.(2959-2961)Cct>Act p.P987T ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 987 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CCCTTTGCAGGAGGTGGACCC 0.672000 5 34 2.7689e-08 2.92272e-08 1 1 0 CASP8 841 broad.mit.edu 37 2 202141669 202141669 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr2:202141669G>C ENST00000358485.4 + 7 1153 c.957G>C c.(955-957)agG>agC p.R319S CASP8_ENST00000432109.2_Missense_Mutation_p.R260S|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392258.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.R277S|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000323492.7_Missense_Mutation_p.R245S NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 260 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 TTAGGGACAGGAATGGAACAC 0.373000 HNSCC(4;0.00038) 4 33 0 0 1 0 0 CYP1A2 1544 broad.mit.edu 37 15 75042616 75042616 + Silent SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr15:75042616G>C ENST00000343932.4 + 2 600 c.537G>C c.(535-537)ctG>ctC p.L179L NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 179 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) TGCAGGAGCTGATGGCAGGGC 0.582000 12 92 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 8 32 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153332577 153332577 + Nonsense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr4:153332577G>A ENST00000281708.4 - 2 1608 c.379C>T c.(379-381)Cag>Tag p.Q127* FBXW7_ENST00000603841.1_Nonsense_Mutation_p.Q127*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.Q127*|FBXW7_ENST00000604872.1_Nonsense_Mutation_p.Q127* NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 127 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TCATCAGACTGATCAAAATCG 0.468000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 16 17 0 0 1 0 0 C7orf55-LUC7L2 100996928 broad.mit.edu 37 7 139092031 139092031 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr7:139092031G>A ENST00000354926.4 + 6 976 c.622G>A c.(622-624)Gat>Aat p.D208N LUC7L2_ENST00000541515.3_Missense_Mutation_p.D274N|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.D207N|C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.D205N NM_001270643.1|NM_016019.4 NP_001257572.1|NP_057103.2 p.D208N(1) ACGACTGGCTGATCATTTTGG 0.398000 10 42 0 0 1 0 0 USP45 85015 broad.mit.edu 37 6 99885183 99885183 + Silent SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr6:99885183C>G ENST00000327681.6 - 17 2785 c.2253G>C c.(2251-2253)gtG>gtC p.V751V USP45_ENST00000539675.1_Silent_p.V44V|USP45_ENST00000500704.2_Silent_p.V751V|USP45_ENST00000369233.2_Silent_p.V703V|USP45_ENST00000392738.2_Silent_p.V431V NM_001080481.1 NP_001073950.1 Q70EL2 UBP45_HUMAN ubiquitin specific peptidase 45 751 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 22 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) TTCTCACTTTCACATAAGCAG 0.383000 23 34 0 0 1 0 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26237349 26237349 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr7:26237349C>G ENST00000354667.4 - 3 214 c.46G>C c.(46-48)Gaa>Caa p.E16Q HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.E4Q NM_031243.2 NP_112533.1 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 16 RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 TGTTCCTTTTCTCTCTGCAAA 0.363000 T ETV1 prostate 13 35 0 0 1 0 0 ZNF23 7571 broad.mit.edu 37 16 71482809 71482809 + Silent SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr16:71482809G>A ENST00000393539.2 - 6 1932 c.1119C>T c.(1117-1119)ttC>ttT p.F373F ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000357254.4_Silent_p.F373F|ZNF23_ENST00000539742.1_5'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000428724.2_Silent_p.F315F|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000564528.1_Silent_p.F315F|ZNF23_ENST00000417828.1_Silent_p.F373F NM_145911.1 NP_666016.1 P17027 ZNF23_HUMAN zinc finger protein 23 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1) 29 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) TATTATTATTGAAGCCTTTTC 0.443000 5 24 0 0 1 0 0 KIRREL2 84063 broad.mit.edu 37 19 36349363 36349363 + Missense_Mutation SNP C C A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr19:36349363C>A ENST00000360202.5 + 3 463 c.265C>A c.(265-267)Cac>Aac p.H89N KIRREL2_ENST00000262625.7_Missense_Mutation_p.H89N|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.H89N|KIRREL2_ENST00000347900.6_Missense_Mutation_p.H39N NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 89 Ig-like C2-type 1. cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCATGACCTCCACATTAGGCC 0.557000 26 27 1.66031e-10 1.77366e-10 1 1 0 PARD3 56288 broad.mit.edu 37 10 34671617 34671617 + Missense_Mutation SNP G G C rs115076370 byFrequency TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr10:34671617G>C ENST00000374789.3 - 9 1575 c.1250C>G c.(1249-1251)tCt>tGt p.S417C PARD3_ENST00000374776.1_Missense_Mutation_p.S417C|PARD3_ENST00000374790.3_Missense_Mutation_p.S373C|PARD3_ENST00000340077.5_Missense_Mutation_p.S417C|PARD3_ENST00000374794.3_Missense_Mutation_p.S373C|PARD3_ENST00000545260.1_Missense_Mutation_p.S373C|PARD3_ENST00000545693.1_Missense_Mutation_p.S417C|PARD3_ENST00000374773.1_Missense_Mutation_p.S417C|PARD3_ENST00000544292.1_Missense_Mutation_p.S147C|PARD3_ENST00000350537.4_Missense_Mutation_p.S417C|PARD3_ENST00000374788.3_Missense_Mutation_p.S417C|PARD3_ENST00000346874.4_Missense_Mutation_p.S417C NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 417 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) TCTTGAGTGAGAGTCTATCTG 0.547000 15 65 0 0 1 0 0 ERAP2 64167 broad.mit.edu 37 5 96215596 96215596 + Silent SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr5:96215596C>T ENST00000437043.3 + 2 918 c.207C>T c.(205-207)ctC>ctT p.L69L ERAP2_ENST00000510309.1_Silent_p.L69L|ERAP2_ENST00000379904.4_Silent_p.L69L|CTD-2260A17.2_ENST00000501338.1_Intron NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 69 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) AGCTAAGGCTCCCCAGTGTGG 0.502000 6 35 0 0 1 0 0 ZNF516 9658 broad.mit.edu 37 18 74091081 74091081 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr18:74091081G>C ENST00000443185.2 - 4 3306 c.2989C>G c.(2989-2991)Cta>Gta p.L997V ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 997 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CGGGGAGGTAGAGGAGGAGCG 0.677000 9 20 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49724228 49724228 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr3:49724228C>G ENST00000449682.2 - 7 1097 c.736G>C c.(736-738)Gac>Cac p.D246H MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.D171H|MST1_ENST00000545762.1_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 232 Kringle 2. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AGACCTTGGTCGAGGAACCTG 0.617000 4 6 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22183799 22183799 + Silent SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr1:22183799G>A ENST00000374695.3 - 43 5452 c.5373C>T c.(5371-5373)ttC>ttT p.F1791F NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 1791 Ig-like C2-type 3. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CTGTGCAGATGAAGGTGACGT 0.632000 28 64 0 0 1 0 0 KLHL21 9903 broad.mit.edu 37 1 6659498 6659498 + Missense_Mutation SNP A A T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr1:6659498A>T ENST00000377663.3 - 2 1219 c.1036T>A c.(1036-1038)Tcc>Acc p.S346T KLHL21_ENST00000377658.4_Missense_Mutation_p.S346T|KLHL21_ENST00000467612.1_5'UTR|KLHL21_ENST00000463043.1_5'UTR Q9UJP4 KLH21_HUMAN kelch-like family member 21 346 anaphase|cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2) 8 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644) TAGAGCCGGGAGCCATCGGAC 0.627000 6 13 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3240254 3240254 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chrX:3240254G>A ENST00000217939.6 - 5 3626 c.3472C>T c.(3472-3474)Cgc>Tgc p.R1158C NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1158 extracellular region 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) TTGTTGGGGCGTAATCTCCTT 0.507000 4 43 0 0 1 0 0 HAGH 3029 broad.mit.edu 37 16 1867236 1867236 + Missense_Mutation SNP T T C rs144037672 TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr16:1867236T>C ENST00000397356.3 - 6 984 c.578A>G c.(577-579)tAt>tGt p.Y193C HAGH_ENST00000566709.1_Missense_Mutation_p.Y145C|HAGH_ENST00000397353.2_Missense_Mutation_p.Y145C|HAGH_ENST00000455446.2_Missense_Mutation_p.M157V NM_005326.4 NP_005317.2 Q16775 GLO2_HUMAN hydroxyacylglutathione hydrolase 193 Substrate. glutathione biosynthetic process cytoplasm|mitochondrial matrix hydroxyacylglutathione hydrolase activity|zinc ion binding kidney(2)|lung(1)|ovary(1)|skin(1) 5 Hepatocellular(780;0.00335) Glutathione(DB00143) AGTCCCTTCATAGAACTTCCC 0.637000 15 20 0 0 1 0 0 PER3 8863 broad.mit.edu 37 1 7858656 7858656 + Missense_Mutation SNP A A T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr1:7858656A>T ENST00000377532.3 + 6 940 c.716A>T c.(715-717)cAt>cTt p.H239L PER3_ENST00000377541.1_Missense_Mutation_p.H238L|PER3_ENST00000361923.2_Missense_Mutation_p.H238L P56645 PER3_HUMAN period circadian clock 3 238 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) ATTCATGTACATCACCCTGCC 0.453000 7 54 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101715193 101715193 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr10:101715193G>C ENST00000342239.3 - 4 2129 c.2038C>G c.(2038-2040)Cat>Gat p.H680D DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Missense_Mutation_p.H680D Q6XZF7 DNMBP_HUMAN dynamin binding protein 680 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) CTTCCCATATGACCAGGGCCC 0.552000 10 23 0 0 1 0 0 C8orf22 492307 broad.mit.edu 37 8 49985442 49985442 + Missense_Mutation SNP G G T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr8:49985442G>T ENST00000303202.8 + 2 226 c.53G>T c.(52-54)cGa>cTa p.R18L C8orf22_ENST00000399653.4_Missense_Mutation_p.R18L|C8orf22_ENST00000517663.1_Missense_Mutation_p.R18L|C8orf22_ENST00000522267.1_Missense_Mutation_p.R18L NM_001256598.1 NP_001243527.1 Q8WWR9 PDPFL_HUMAN chromosome 8 open reading frame 22 18 large_intestine(1)|lung(7)|prostate(1) 9 all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502) CAGTATTATCGAAGTAAGTTG 0.413000 14 52 0.000151284 0.000155373 1 1 0 FBXO39 162517 broad.mit.edu 37 17 6683478 6683478 + Missense_Mutation SNP G G T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr17:6683478G>T ENST00000321535.4 + 2 421 c.291G>T c.(289-291)atG>atT p.M97I NM_153230.2 NP_694962.1 Q8N4B4 FBX39_HUMAN F-box protein 39 97 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 TCAAATTCATGAATCCTTACA 0.478000 59 42 1.21705e-43 1.33775e-43 1 1 0 OGFOD3 79701 broad.mit.edu 37 17 80367279 80367279 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr17:80367279C>G ENST00000313056.5 - 4 539 c.388G>C c.(388-390)Gaa>Caa p.E130Q OGFOD3_ENST00000329197.5_Missense_Mutation_p.E130Q NM_024648.2|NM_175902.4 NP_078924.1|NP_787098.3 2-oxoglutarate and iron-dependent oxygenase domain containing 3 AGCCCCTTTTCAGCTACGCTG 0.438000 4 23 0 0 1 0 0 TXNRD2 10587 broad.mit.edu 37 22 19864727 19864727 + Silent SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr22:19864727C>T ENST00000400519.1 - 17 1472 c.1473G>A c.(1471-1473)cgG>cgA p.R491R TXNRD2_ENST00000400521.1_Silent_p.R492R|TXNRD2_ENST00000535882.1_Silent_p.R491R|TXNRD2_ENST00000400518.1_Silent_p.R462R|TXNRD2_ENST00000542719.1_Silent_p.R462R Q9NNW7 TRXR2_HUMAN thioredoxin reductase 2 492 cell redox homeostasis|response to oxygen radical mitochondrion flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2) 30 Colorectal(54;0.0993) TACCCACGGTCCGCATCACCT 0.657000 20 27 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24570162 24570162 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr6:24570162C>T ENST00000535378.1 - 13 2575 c.1933G>A c.(1933-1935)Ggc>Agc p.G645S KIAA0319_ENST00000537886.1_Missense_Mutation_p.G654S|KIAA0319_ENST00000543707.1_Missense_Mutation_p.G654S|KIAA0319_ENST00000378214.3_Missense_Mutation_p.G654S|KIAA0319_ENST00000430948.2_Missense_Mutation_p.G609S NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 654 PKD 4. negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 AAGACAATGCCGTGGTCATCG 0.537000 4 25 0 0 1 0 0 ZNF181 339318 broad.mit.edu 37 19 35231800 35231800 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr19:35231800G>A ENST00000392232.3 + 6 814 c.646G>A c.(646-648)Gaa>Aaa p.E216K ZNF181_ENST00000459757.2_Missense_Mutation_p.E171K|ZNF181_ENST00000492450.1_Missense_Mutation_p.E172K Q2M3W8 ZN181_HUMAN zinc finger protein 181 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) TACTCTTTCTGAACCACAAAA 0.338000 32 28 0 0 1 0 0 EPB42 2038 broad.mit.edu 37 15 43500925 43500925 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr15:43500925G>A ENST00000300215.3 - 7 1428 c.971C>T c.(970-972)tCa>tTa p.S324L EPB42_ENST00000540029.1_Missense_Mutation_p.S216L|EPB42_ENST00000441366.2_Missense_Mutation_p.S294L P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 294 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) GCCCTGTGCTGAGGCAAACGT 0.602000 36 41 0 0 1 0 0 RIPK4 54101 broad.mit.edu 37 21 43176870 43176870 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr21:43176870C>G ENST00000352483.2 - 2 353 c.289G>C c.(289-291)Gag>Cag p.E97Q RIPK4_ENST00000332512.3_Missense_Mutation_p.E97Q|RIPK4_ENST00000544709.1_Missense_Mutation_p.E34Q|RIPK4_ENST00000542057.1_Missense_Mutation_p.E34Q Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 97 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TCCATGTACTCCATGACCAGG 0.567000 21 25 0 0 1 0 0 BFAR 51283 broad.mit.edu 37 16 14761496 14761496 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr16:14761496G>A ENST00000261658.2 + 8 1442 c.1165G>A c.(1165-1167)Gtg>Atg p.V389M BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000563971.1_Missense_Mutation_p.V264M|BFAR_ENST00000426842.2_Missense_Mutation_p.V261M NM_016561.2 NP_057645.1 Q9NZS9 BFAR_HUMAN bifunctional apoptosis regulator 389 anti-apoptosis|apoptosis endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction structural molecule activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1) 11 TTTCAGGACCGTGCCTCAGAG 0.547000 9 71 0 0 1 0 0 RNASEL 6041 broad.mit.edu 37 1 182554975 182554975 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr1:182554975G>A ENST00000367559.3 - 2 1220 c.967C>T c.(967-969)Cat>Tat p.H323Y RNASEL_ENST00000444138.1_Missense_Mutation_p.H323Y|RNASEL_ENST00000539397.1_Missense_Mutation_p.H323Y NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 323 mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 TTGGCTCCATGAGAGAGAAGA 0.522000 11 43 0 0 1 0 0 SLC1A5 6510 broad.mit.edu 37 19 47290956 47290956 + Silent SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr19:47290956G>A ENST00000542575.2 - 1 895 c.267C>T c.(265-267)ttC>ttT p.F89F NM_005628.2 NP_005619.1 Q15758 AAAT_HUMAN solute carrier family 1 (neutral amino acid transporter), member 5 89 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1) 13 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) CCGGGAAGACGAAGGCGCTCA 0.731000 5 3 0 0 1 0 0 KY 339855 broad.mit.edu 37 3 134369698 134369698 + Silent SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr3:134369698C>G ENST00000508956.1 - 1 162 c.105G>C c.(103-105)gcG>gcC p.A35A KY_ENST00000423778.2_Silent_p.A35A|KY_ENST00000503669.1_Silent_p.A35A Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 35 cytoskeleton|Z disc peptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2) 21 AGCTCGGGTTCGCCTGCTGGT 0.672000 8 12 0 0 1 0 0 EHMT2 10919 broad.mit.edu 37 6 31854617 31854617 + Missense_Mutation SNP C C A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr6:31854617C>A ENST00000395728.3 - 16 2346 c.2347G>T c.(2347-2349)Gtg>Ttg p.V783L EHMT2_ENST00000375537.4_Missense_Mutation_p.V726L|EHMT2_ENST00000375530.4_Missense_Mutation_p.V692L|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.V749L Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 726 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 TTGTTCACCACGGCCTCCATC 0.642000 56 78 3.74213e-36 4.09632e-36 1 1 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr9:21971120G>A ENST00000304494.5 - 2 508 c.238C>T c.(238-240)Cga>Tga p.R80* CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 80 R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGCACGGGTCGGGTGAGAGTG 0.726000 R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 7 6 0 0 1 0 0 OR52B6 340980 broad.mit.edu 37 11 5602241 5602241 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr11:5602241C>G ENST00000345043.2 + 1 135 c.135C>G c.(133-135)atC>atG p.I45M AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron NM_001005162.2 NP_001005162.2 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, member 6 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AACTACATATCTGGCTGTCCA 0.517000 19 24 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23863422 23863422 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr14:23863422G>A ENST00000405093.3 - 21 2610 c.2540C>T c.(2539-2541)aCg>aTg p.T847M MYH6_ENST00000356287.3_Missense_Mutation_p.T847M NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 847 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CTCCTTCTCCGTCTCTGCGCT 0.562000 12 81 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7576852 7576852 + Splice_Site SNP C C T rs11575997 TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr17:7576852C>T ENST00000420246.2 - 9 1126 c.e9+1 TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(24)|p.0?(8)|p.I332fs*49(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGACTTAGTACCTGAAGGGTG 0.458000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 13 18 0 0 1 0 0 SUV420H1 51111 broad.mit.edu 37 11 67957391 67957391 + Silent SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr11:67957391C>T ENST00000304363.4 - 2 506 c.153G>A c.(151-153)tcG>tcA p.S51S SUV420H1_ENST00000402185.2_Silent_p.S51S|SUV420H1_ENST00000401547.2_Silent_p.S51S|SUV420H1_ENST00000402789.1_Silent_p.S51S|SUV420H1_ENST00000405515.1_Silent_p.S51S NM_017635.3 NP_060105 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 51 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 TACATCTGTTCGACCTCCTCT 0.408000 63 98 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135315105 135315105 + Missense_Mutation SNP T T G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr7:135315105T>G ENST00000285968.6 + 35 4972 c.4946T>G c.(4945-4947)cTt>cGt p.L1649R NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1649 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 TTGCAGTTTCTTATTTCACAT 0.333000 11 26 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64457801 64457801 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr14:64457801G>C ENST00000358025.3 + 21 2844 c.2614G>C c.(2614-2616)Gag>Cag p.E872Q SYNE2_ENST00000554584.1_Missense_Mutation_p.E872Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.E872Q|SYNE2_ENST00000357395.3_5'UTR NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 872 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GGGGCAAAGAGAGAGCCCCGG 0.418000 12 19 0 0 1 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134525605 134525605 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr9:134525605C>T ENST00000372195.1 - 3 469 c.226G>A c.(226-228)Gag>Aag p.E76K RAPGEF1_ENST00000372190.3_Missense_Mutation_p.E77K|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.E59K Q13905 RPGF1_HUMAN Rap guanine nucleotide exchange factor (GEF) 1 59 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) GGGTAGCCCTCTGGTAGAAAT 0.512000 5 20 0 0 1 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149215838 149215838 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr5:149215838C>T ENST00000309241.5 + 8 1852 c.1820C>T c.(1819-1821)cCc>cTc p.P607L PPARGC1B_ENST00000403750.1_Missense_Mutation_p.P543L|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.P607L|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.P568L NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 607 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 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) CTCACCCCACCCACCACACCA 0.532000 27 75 0 0 1 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156625114 156625114 + Missense_Mutation SNP A A G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr4:156625114A>G ENST00000296518.7 + 4 495 c.286A>G c.(286-288)Aca>Gca p.T96A GUCY1A3_ENST00000511507.1_Missense_Mutation_p.T96A|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.T96A|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.T96A|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.T96A|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.T96A Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 96 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) ACTTCAGAGAACATTGGCAAA 0.313000 21 27 0 0 1 0 0 ZNF573 126231 broad.mit.edu 37 19 38230505 38230505 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr19:38230505G>A ENST00000339503.4 - 8 1213 c.712C>T c.(712-714)Cat>Tat p.H238Y ZNF573_ENST00000590414.2_Missense_Mutation_p.H296Y|ZNF573_ENST00000357309.3_Missense_Mutation_p.H208Y|ZNF573_ENST00000392138.1_Missense_Mutation_p.H209Y|ZNF573_ENST00000536220.1_Missense_Mutation_p.H208Y NM_152360.3 NP_689573.3 Q86YE8 ZN573_HUMAN zinc finger protein 573 276 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) TCATCAGTATGAAACTGCCCA 0.403000 46 34 0 0 1 0 0 SMOC2 64094 broad.mit.edu 37 6 169064771 169064771 + Nonsense_Mutation SNP G G T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr6:169064771G>T ENST00000354536.5 + 12 1556 c.1336G>T c.(1336-1338)Gaa>Taa p.E446* SMOC2_ENST00000477998.1_3'UTR|SMOC2_ENST00000356284.2_Nonsense_Mutation_p.E435* NM_022138.2 NP_071421.1 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 435 signal transduction basement membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) AGGTCATGCTGAAAGTACGTC 0.299000 8 17 2.80697e-09 2.98662e-09 1 1 0 ZNF733P 643955 broad.mit.edu 37 7 62752310 62752310 + RNA SNP A A G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr7:62752310A>G ENST00000331425.6 - 0 1125 NR_003952.1 TCTTGGCCACATTCTTCATAT 0.433000 12 23 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115997247 115997247 + Nonsense_Mutation SNP C C A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr4:115997247C>A ENST00000264363.2 - 2 1624 c.946G>T c.(946-948)Gag>Tag p.E316* NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 316 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CTTGTTCCCTCTTTCCCAACA 0.368000 9 41 2.17888e-05 2.24644e-05 1 1 0 DYNC1LI1 51143 broad.mit.edu 37 3 32587344 32587344 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr3:32587344C>G ENST00000273130.4 - 3 437 c.334G>C c.(334-336)Gat>Cat p.D112H DYNC1LI1_ENST00000432458.2_Intron NM_016141.3 NP_057225.2 Q9Y6G9 DC1L1_HUMAN dynein, cytoplasmic 1, light intermediate chain 1 112 cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole ATP binding|motor activity kidney(2)|large_intestine(1)|lung(3)|ovary(1) 7 CACTCACCATCCCTGTCTTCA 0.318000 4 44 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152080026 152080026 + Silent SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr1:152080026C>T ENST00000368804.1 - 2 5666 c.5667G>A c.(5665-5667)caG>caA p.Q1889Q NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1889 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTTCCTCCTTCTGCTGGCGGC 0.562000 14 82 0 0 1 0 0 NAALADL2 254827 broad.mit.edu 37 3 175293868 175293868 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr3:175293868G>C ENST00000454872.1 + 10 1821 c.1693G>C c.(1693-1695)Gaa>Caa p.E565Q NAALADL2_ENST00000473253.1_3'UTR NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 565 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) CCAGTGCCCAGAAACCAATAT 0.383000 19 72 0 0 1 0 0 RXFP4 339403 broad.mit.edu 37 1 155912557 155912557 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr1:155912557G>A ENST00000368318.3 + 1 1078 c.1057G>A c.(1057-1059)Gca>Aca p.A353T NM_181885.2 NP_871001.1 Q8TDU9 RL3R2_HUMAN relaxin/insulin-like family peptide receptor 4 353 integral to membrane|plasma membrane angiotensin type II receptor activity endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 13 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) GCGGTGGGTCGCAAGCAACCC 0.647000 15 31 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 154996912 154996912 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr2:154996912G>C ENST00000392825.3 + 4 772 c.205G>C c.(205-207)Gat>Cat p.D69H GALNT13_ENST00000409237.1_Missense_Mutation_p.D69H NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 69 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 GATTCCTAAAGATGACCAGGA 0.373000 12 23 0 0 1 0 0 DSG2 1829 broad.mit.edu 37 18 29116271 29116271 + Silent SNP A A G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr18:29116271A>G ENST00000261590.8 + 11 1739 c.1530A>G c.(1528-1530)gcA>gcG p.A510A NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 510 cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) GTCACGATGCAGAGTATGTGA 0.468000 11 45 0 0 1 0 0 CCDC114 93233 broad.mit.edu 37 19 48807360 48807360 + Missense_Mutation SNP G G A rs113520498 TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr19:48807360G>A ENST00000315396.7 - 7 1274 c.592C>T c.(592-594)Cgc>Tgc p.R198C NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 198 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) TTCTCCGCGCGCTCCCGCAGC 0.667000 26 30 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64457759 64457759 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr14:64457759G>C ENST00000358025.3 + 21 2802 c.2572G>C c.(2572-2574)Gaa>Caa p.E858Q SYNE2_ENST00000554584.1_Missense_Mutation_p.E858Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.E858Q|SYNE2_ENST00000357395.3_5'UTR NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 858 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GAAGGAACTTGAATCATATAT 0.433000 15 21 0 0 1 0 0 ANO5 203859 broad.mit.edu 37 11 22242730 22242730 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr11:22242730G>A ENST00000324559.8 + 5 585 c.268G>A c.(268-270)Gta>Ata p.V90I NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 90 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CGTTGATGATGTAAAGAAAGA 0.353000 9 11 0 0 1 0 0 LRTM2 654429 broad.mit.edu 37 12 1943874 1943874 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr12:1943874C>G ENST00000543818.1 + 5 1942 c.1100C>G c.(1099-1101)tCt>tGt p.S367C CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.S367C|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.S367C|CACNA2D4_ENST00000587995.1_Intron NM_001039029.2|NM_001163925.1|NM_001163926.1 NP_001034118.1|NP_001157397.1|NP_001157398.1 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 367 integral to membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) AAGCAGATCTCTTCTGTGGCC 0.662000 8 27 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44086232 44086232 + Silent SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr1:44086232C>T ENST00000359947.4 + 31 5686 c.5346C>T c.(5344-5346)ttC>ttT p.F1782F PTPRF_ENST00000372414.3_Silent_p.F1782F|PTPRF_ENST00000438120.1_Silent_p.F1773F|PTPRF_ENST00000422171.2_Silent_p.F1141F|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Silent_p.F1773F NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1782 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TGCGTGAGTTCAAGGTCACGG 0.567000 21 49 0 0 1 0 0 ABCB10 23456 broad.mit.edu 37 1 229661685 229661685 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr1:229661685G>A ENST00000344517.4 - 10 1946 c.1904C>T c.(1903-1905)tCa>tTa p.S635L NM_012089.2 NP_036221.2 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 10 635 ABC transporter. integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2) 31 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) AAATGCACCTGAGAGGAGAAC 0.423000 74 104 0 0 1 0 0 ESF1 51575 broad.mit.edu 37 20 13756853 13756853 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr20:13756853C>T ENST00000202816.1 - 3 808 c.701G>A c.(700-702)tGt>tAt p.C234Y NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 234 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 ATCTTTGTCACACATTTCACC 0.368000 42 75 0 0 1 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140801003 140801003 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr5:140801003G>A ENST00000398587.2 + 1 242 c.209G>A c.(208-210)aGa>aAa p.R70K PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.R70K|PCDHGA7_ENST00000518325.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCGTCTCCAGAGGGAAGACA 0.617000 18 49 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67699550 67699550 + Missense_Mutation SNP T T C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr12:67699550T>C ENST00000545606.1 + 10 2539 c.2102T>C c.(2101-2103)aTc>aCc p.I701T NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 701 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) CCACCTCTTATCAGCGAAAGT 0.408000 21 86 0 0 1 0 0 ARHGEF25 115557 broad.mit.edu 37 12 58007841 58007841 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr12:58007841C>G ENST00000286494.4 + 6 1055 c.595C>G c.(595-597)Ctt>Gtt p.L199V AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.L238V|AC025165.8_ENST00000444467.1_RNA NM_182947.3 NP_891992 Q86VW2 ARHGP_HUMAN Rho guanine nucleotide exchange factor (GEF) 25 199 DH. regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 28 CCCCGAGAGTCTTCGAGGCCG 0.557000 29 32 0 0 1 0 0 FKBP9 11328 broad.mit.edu 37 7 33044804 33044804 + Silent SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr7:33044804C>T ENST00000242209.4 + 10 1723 c.1554C>T c.(1552-1554)caC>caT p.H518H FKBP9_ENST00000538443.1_Silent_p.H380H|FKBP9_ENST00000538336.1_Silent_p.H571H|FKBP9_ENST00000490776.2_Silent_p.H286H|AVL9_ENST00000404479.1_Intron NM_001284343.1|NM_007270.3 NP_001271272.1|NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 518 EF-hand 1. protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) AGTACATTCACGCCCAGGTGG 0.542000 21 49 0 0 1 0 0 GUK1 2987 broad.mit.edu 37 1 228335209 228335209 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr1:228335209C>G ENST00000366718.1 + 5 781 c.354C>G c.(352-354)atC>atG p.I118M GUK1_ENST00000391865.3_Missense_Mutation_p.I139M|GUK1_ENST00000366730.1_Missense_Mutation_p.I118M|GUK1_ENST00000366722.1_Missense_Mutation_p.I118M|GUK1_ENST00000366716.1_Missense_Mutation_p.I118M|GUK1_ENST00000366721.1_Missense_Mutation_p.I120M|GUK1_ENST00000366728.2_Missense_Mutation_p.I139M|GUK1_ENST00000366726.1_Missense_Mutation_p.I118M|GUK1_ENST00000470040.1_3'UTR|GUK1_ENST00000366723.1_Missense_Mutation_p.I139M|GUK1_ENST00000312726.4_Missense_Mutation_p.I118M NM_001159391.1 NP_001152863.1 Q16774 KGUA_HUMAN guanylate kinase 1 118 Guanylate kinase-like. nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process cytosol ATP binding|guanylate kinase activity endometrium(2)|lung(5)|prostate(1)|soft_tissue(1) 9 Prostate(94;0.0405) TGCGGCCCATCTACATCTCTG 0.657000 14 57 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2817462 2817462 + Silent SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr16:2817462C>T ENST00000301740.8 + 11 7482 c.6933C>T c.(6931-6933)ctC>ctT p.L2311L NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2311 Ala-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CTCTGAGTCTCACAGGCTCTG 0.622000 64 162 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121414880 121414880 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr3:121414880C>T ENST00000393667.3 - 13 4600 c.4490G>A c.(4489-4491)cGa>cAa p.R1497Q GOLGB1_ENST00000340645.5_Missense_Mutation_p.R1492Q NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 1492 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding p.R1492Q(1)|p.R1492L(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TGCTTCTTTTCGGGAAATAAG 0.418000 30 206 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70049034 70049034 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr12:70049034C>T ENST00000330891.5 - 10 1886 c.1660G>A c.(1660-1662)Gag>Aag p.E554K BEST3_ENST00000488961.1_Missense_Mutation_p.E341K|BEST3_ENST00000553096.1_Missense_Mutation_p.E448K|BEST3_ENST00000331471.4_Intron NM_001282613.1|NM_032735.2 NP_001269542.1|NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 554 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GTCTCCTTCTCTGAGGGAGAC 0.537000 20 43 0 0 1 0 0 GOLGA2 2801 broad.mit.edu 37 9 131028582 131028582 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr9:131028582G>A ENST00000421699.2 - 8 596 c.584C>T c.(583-585)aCg>aTg p.T195M GOLGA2_ENST00000609374.1_Missense_Mutation_p.T183M NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 195 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 CAACTGATCCGTAATTTCTTG 0.502000 17 29 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40376898 40376898 + Missense_Mutation SNP C C A rs138107011 byFrequency TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr19:40376898C>A ENST00000221347.6 - 24 11531 c.11524G>T c.(11524-11526)Ggc>Tgc p.G3842C NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 3842 VWFD 9. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGGATACAGCCCGCGCTCCCC 0.667000 3 12 0.004672 0.0047615 1 1 0 ZNF516 9658 broad.mit.edu 37 18 74091357 74091357 + Silent SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr18:74091357G>A ENST00000443185.2 - 4 3030 c.2713C>T c.(2713-2715)Ctg>Ttg p.L905L ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 905 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GGCTTGGCCAGGGGCCCCTGT 0.721000 13 35 0 0 1 0 0 ANGPTL4 51129 broad.mit.edu 37 19 8429455 8429455 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr19:8429455G>A ENST00000301455.2 + 1 421 c.250G>A c.(250-252)Gag>Aag p.E84K ANGPTL4_ENST00000541807.1_Intron|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.E84K NM_139314.1 NP_647475.1 Q9BY76 ANGL4_HUMAN angiopoietin-like 4 84 angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis extracellular space|proteinaceous extracellular matrix enzyme inhibitor activity|receptor binding large_intestine(1)|lung(1)|ovary(2)|skin(2) 6 TCAGGGAACCGAGGGGTCCAC 0.726000 4 3 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44086185 44086185 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr1:44086185G>C ENST00000359947.4 + 31 5639 c.5299G>C c.(5299-5301)Gac>Cac p.D1767H PTPRF_ENST00000372414.3_Missense_Mutation_p.D1767H|PTPRF_ENST00000438120.1_Missense_Mutation_p.D1758H|PTPRF_ENST00000422171.2_Missense_Mutation_p.D1126H|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.D1758H NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1767 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CTTTGTTGTTGACCCGATGGC 0.557000 17 32 0 0 1 0 0 ALAS1 211 broad.mit.edu 37 3 52248087 52248087 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr3:52248087C>T ENST00000394965.2 + 12 2174 c.1814C>T c.(1813-1815)tCc>tTc p.S605F ALAS1_ENST00000484952.1_Missense_Mutation_p.S605F|ALAS1_ENST00000310271.2_Missense_Mutation_p.S605F|ALAS1_ENST00000469224.1_Missense_Mutation_p.S605F NM_000688.5 NP_000679.1 P13196 HEM1_HUMAN aminolevulinate, delta-, synthase 1 605 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) AAGCCTCATTCCTCAGCTGAG 0.438000 8 31 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20808062 20808062 + Silent SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr19:20808062G>C ENST00000601440.1 - 4 767 c.621C>G c.(619-621)ggC>ggG p.G207G CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 207 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 TAAAGGCTTTGCCACATTCTT 0.368000 23 18 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44887641 44887641 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr15:44887641G>C ENST00000261866.7 - 26 4467 c.4451C>G c.(4450-4452)tCt>tGt p.S1484C SPG11_ENST00000427534.2_Missense_Mutation_p.S1484C|SPG11_ENST00000535302.2_Missense_Mutation_p.S1484C|SPG11_ENST00000558319.1_Missense_Mutation_p.S1484C NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1484 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) ACAGAGACAAGAAATGGCACT 0.438000 15 33 0 0 1 0 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143846 61143846 + RNA SNP A A G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr20:61143846A>G ENST00000475015.1 - 0 492 C20orf166-AS1_ENST00000412495.1_RNA CAGAGTCTGCATGTGCCTCTA 0.657000 33 82 0 0 1 0 0 DDX23 9416 broad.mit.edu 37 12 49227194 49227194 + Missense_Mutation SNP T T C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr12:49227194T>C ENST00000308025.3 - 13 1748 c.1669A>G c.(1669-1671)Atg>Gtg p.M557V NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 557 Helicase ATP-binding. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 TCAAAGCCCATGTCAATCATC 0.552000 14 66 0 0 1 0 0 SESN1 27244 broad.mit.edu 37 6 109311973 109311973 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr6:109311973C>G ENST00000436639.2 - 8 2044 c.1299G>C c.(1297-1299)ttG>ttC p.L433F SESN1_ENST00000356644.7_Missense_Mutation_p.L374F|SESN1_ENST00000302071.2_Missense_Mutation_p.L308F NM_014454.2 NP_055269.1 Q9Y6P5 SESN1_HUMAN sestrin 1 374 cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus nucleus cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 10 all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637) Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117) TTTCATCAATCAACTGTCCCA 0.353000 22 39 0 0 1 0 0 SNRNP27 11017 broad.mit.edu 37 2 70123608 70123608 + Nonsense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr2:70123608C>T ENST00000244227.3 + 3 621 c.196C>T c.(196-198)Cga>Tga p.R66* SNRNP27_ENST00000409116.1_Nonsense_Mutation_p.R66* NM_006857.2 NP_006848.1 Q8WVK2 SNR27_HUMAN small nuclear ribonucleoprotein 27kDa (U4/U6.U5) 66 Arg-rich. mRNA processing|RNA splicing nucleus nucleic acid binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 11 TTCCCCTTCTCGACTgaaaga 0.348000 14 49 0 0 1 0 0 KLHDC2 23588 broad.mit.edu 37 14 50244636 50244636 + Nonsense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr14:50244636C>G ENST00000298307.5 + 4 1292 c.431C>G c.(430-432)tCa>tGa p.S144* KLHDC2_ENST00000554589.1_Nonsense_Mutation_p.S144*|KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000557247.1_Nonsense_Mutation_p.S144* NM_014315.2 NP_055130.1 Q9Y2U9 KLDC2_HUMAN kelch domain containing 2 144 nucleus protein binding endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(31;0.000959)|Breast(41;0.0117) CCTCCATCATCAAAGGACAAA 0.398000 9 49 0 0 1 0 0 NPM3 10360 broad.mit.edu 37 10 103543112 103543112 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr10:103543112C>G ENST00000370110.5 - 1 58 c.36G>C c.(34-36)ttG>ttC p.L12F NPM3_ENST00000474993.1_5'UTR NM_006993.2 NP_008924.1 O75607 NPM3_HUMAN nucleophosmin/nucleoplasmin 3 12 nucleic acid binding large_intestine(3)|lung(1)|skin(1) 5 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) TCTCCTGACTCAAAAACGCTA 0.622000 4 21 0 0 1 0 0 AMACR 23600 broad.mit.edu 37 5 33997453 33997453 + Missense_Mutation SNP T T C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr5:33997453T>C ENST00000382068.3 - 4 757 c.749A>G c.(748-750)aAg>aGg p.K250R AMACR_ENST00000426255.2_3'UTR|AMACR_ENST00000382085.3_Intron|AMACR_ENST00000335606.6_Intron|AMACR_ENST00000382072.2_Intron|RP11-1084J3.4_ENST00000382079.3_Intron|AMACR_ENST00000502637.1_Intron|AMACR_ENST00000441713.2_Intron|AMACR_ENST00000512079.1_Intron|AMACR_ENST00000514195.1_Intron Q9UHK6 AMACR_HUMAN alpha-methylacyl-CoA racemase bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase mitochondrion|peroxisomal matrix alpha-methylacyl-CoA racemase activity endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 19 CATCATTGGCTTGAAAACATC 0.453000 OREG0016555 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 62 0 0 1 0 0 SGCE 8910 broad.mit.edu 37 7 94218031 94218031 + Nonsense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr7:94218031G>A ENST00000415788.2 - 11 1462 c.1375C>T c.(1375-1377)Cag>Tag p.Q459* SGCE_ENST00000428696.2_Nonsense_Mutation_p.Q414*|SGCE_ENST00000437425.2_Nonsense_Mutation_p.Q382*|SGCE_ENST00000445866.2_Nonsense_Mutation_p.Q448*|SGCE_ENST00000265735.7_Nonsense_Mutation_p.Q423*|SGCE_ENST00000447873.1_Nonsense_Mutation_p.Q414* O43556 SGCE_HUMAN sarcoglycan, epsilon 423 cell-matrix adhesion|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma calcium ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 14 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) ATCTGAGTCTGATGTGGCAAG 0.323000 11 54 0 0 1 0 0 ZNF275 10838 broad.mit.edu 37 X 152612686 152612686 + Silent SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chrX:152612686C>T ENST00000421401.3 + 4 720 c.543C>T c.(541-543)ttC>ttT p.F181F ZNF275_ENST00000440091.1_Silent_p.F211F|ZNF275_ENST00000370249.2_Silent_p.F128F|ZNF275_ENST00000370251.3_Silent_p.F181F A6NFS0 A6NFS0_HUMAN zinc finger protein 275 181 intracellular nucleic acid binding|zinc ion binding endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAAAGCCCTTCGAGTGCGAGG 0.602000 10 16 0 0 1 0 0 TMEM67 91147 broad.mit.edu 37 8 94798529 94798529 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr8:94798529G>A ENST00000453321.3 + 13 1425 c.1367G>A c.(1366-1368)gGa>gAa p.G456E TMEM67_ENST00000409623.3_Missense_Mutation_p.G375E NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 456 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) AATGACTTAGGAACTCAGCCA 0.343000 6 39 0 0 1 0 0 LCMT2 9836 broad.mit.edu 37 15 43621512 43621512 + Silent SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr15:43621512G>C ENST00000305641.5 - 1 1291 c.1176C>G c.(1174-1176)ctC>ctG p.L392L LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_5'UTR NM_014793.4 NP_055608.2 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 392 tRNA processing methyltransferase activity|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1) 20 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) AATCTCTTGAGAGCAAGTGAA 0.532000 16 49 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107580556 107580556 + Silent SNP G G A rs141885441 TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr7:107580556G>A ENST00000393561.1 - 23 3895 c.3711C>T c.(3709-3711)atC>atT p.I1237I LAMB1_ENST00000222399.6_Silent_p.I1213I P07942 LAMB1_HUMAN laminin, beta 1 1213 Domain II. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent p.I1213I(1) NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTAAGGCCCGATCACACCAC 0.537000 14 78 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1264097 1264097 + Missense_Mutation SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr11:1264097C>T ENST00000447027.1 + 31 6054 c.5996C>T c.(5995-5997)tCa>tTa p.S1999L RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.S1996L Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1996 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACCCGCCTATCACAGACCACC 0.637000 43 63 0 0 1 0 0 IMPA2 3613 broad.mit.edu 37 18 12028068 12028068 + Missense_Mutation SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr18:12028068G>A ENST00000269159.3 + 6 759 c.517G>A c.(517-519)Gaa>Aaa p.E173K IMPA2_ENST00000588927.1_5'UTR|IMPA2_ENST00000589238.1_5'UTR|IMPA2_ENST00000588752.1_3'UTR NM_014214.2 NP_055029.1 O14732 IMPA2_HUMAN inositol(myo)-1(or 4)-monophosphatase 2 173 inositol phosphate dephosphorylation|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1) 12 Lithium(DB01356) GGTTCTGACAGAAATTGGCCC 0.498000 17 42 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49925824 49925824 + Silent SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr19:49925824G>A ENST00000270631.1 - 2 305 c.204C>T c.(202-204)gaC>gaT p.D68D NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 68 neuropeptide signaling pathway extracellular region endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGAAGGCCGCGTCGTCCGCCA 0.746000 6 16 0 0 1 0 0 RNF139 11236 broad.mit.edu 37 8 125499824 125499824 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr8:125499824G>C ENST00000303545.3 + 2 2306 c.1934G>C c.(1933-1935)aGa>aCa p.R645T NM_007218.3 NP_009149.2 Q8WU17 RN139_HUMAN ring finger protein 139 645 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding p.R645I(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1) 20 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CAAAGAGAAAGAAATGGAGTG 0.383000 22 53 0 0 1 0 0 LRRC8E 80131 broad.mit.edu 37 19 7964617 7964617 + Missense_Mutation SNP C C T rs138177601 byFrequency TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr19:7964617C>T ENST00000539278.1 - 1 3810 c.650G>A c.(649-651)gGc>gAc p.G217D LRRC8E_ENST00000306708.6_Missense_Mutation_p.P404S CGAGTGGACGCCCGAGAAGCT 0.622000 3 38 0 0 1 0 0 ZIC4 84107 broad.mit.edu 37 3 147108799 147108799 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr3:147108799G>C ENST00000383075.3 - 4 1435 c.923C>G c.(922-924)tCg>tGg p.S308W ZIC4_ENST00000473123.1_Missense_Mutation_p.S308W|ZIC4_ENST00000491672.1_Missense_Mutation_p.S102W|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.S346W|ZIC4_ENST00000484399.1_Missense_Mutation_p.S308W|ZIC4_ENST00000525172.2_Missense_Mutation_p.S358W NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 308 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 CGACGAGGGCGACACGAGGGC 0.682000 8 36 0 0 1 0 0 TTC37 9652 broad.mit.edu 37 5 94872765 94872765 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr5:94872765G>C ENST00000358746.2 - 9 922 c.624C>G c.(622-624)ttC>ttG p.F208L NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 208 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 AACTCTGAATGAAATGCCTAT 0.294000 23 31 0 0 1 0 0 PTPN13 5783 broad.mit.edu 37 4 87696775 87696775 + Nonsense_Mutation SNP C C A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr4:87696775C>A ENST00000436978.1 + 35 6356 c.5876C>A c.(5875-5877)tCa>tAa p.S1959* PTPN13_ENST00000411767.2_Nonsense_Mutation_p.S1954*|PTPN13_ENST00000316707.6_Nonsense_Mutation_p.S1763*|PTPN13_ENST00000511467.1_Nonsense_Mutation_p.S1959*|PTPN13_ENST00000427191.2_Nonsense_Mutation_p.S1935* NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 1954 PDZ 5. cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TTAGACATGTCACTTCCTTCA 0.388000 6 12 0.248553 0.24949 1 1 0 ARHGAP29 9411 broad.mit.edu 37 1 94645405 94645405 + Missense_Mutation SNP C C A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr1:94645405C>A ENST00000260526.6 - 20 2538 c.2356G>T c.(2356-2358)Gac>Tac p.D786Y ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 786 Rho-GAP. Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) CATTTTTTGTCTTCAAGACTA 0.303000 21 44 6.33239e-15 6.84721e-15 1 1 0 KIDINS220 57498 broad.mit.edu 37 2 8871724 8871724 + Missense_Mutation SNP T T G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr2:8871724T>G ENST00000256707.3 - 30 4623 c.4442A>C c.(4441-4443)gAa>gCa p.E1481A KIDINS220_ENST00000473731.1_Missense_Mutation_p.E1462A|KIDINS220_ENST00000418530.1_Missense_Mutation_p.E1382A|KIDINS220_ENST00000427284.1_Missense_Mutation_p.E1462A NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 1481 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ATCTGATTTTTCATCTTCTTC 0.458000 16 31 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109697829 109697829 + Silent SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chrX:109697829C>T ENST00000465301.2 + 3 4230 c.3984C>T c.(3982-3984)gcC>gcT p.A1328A RGAG1_ENST00000540313.1_Silent_p.A1328A NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 1328 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 TGCCAACAGCCTGTAAGCGGA 0.537000 17 8 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3241554 3241554 + Silent SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chrX:3241554G>C ENST00000217939.6 - 5 2326 c.2172C>G c.(2170-2172)ctC>ctG p.L724L NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 724 extracellular region 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) CCTTTGTTTTGAGGAACACCT 0.473000 13 20 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658179 72658179 + RNA SNP T T C rs147293416 by1000genomes TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr7:72658179T>C ENST00000425256.1 - 0 1732 cagagtgatttcggatgaatt 0.507000 3 44 0 0 1 0 0 ETNK1 55500 broad.mit.edu 37 12 22826480 22826480 + Silent SNP G G A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr12:22826480G>A ENST00000266517.4 + 6 1187 c.1098G>A c.(1096-1098)caG>caA p.Q366Q NM_018638.4 NP_061108.2 Q9HBU6 EKI1_HUMAN ethanolamine kinase 1 366 phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|ethanolamine kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GAGAACTACAGAGTCAGTGGC 0.368000 19 46 0 0 1 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 5 78 0 0 1 0 0 SLC35F1 222553 broad.mit.edu 37 6 118635189 118635189 + Splice_Site SNP A A G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr6:118635189A>G ENST00000360388.4 + 8 1203 c.e8-1 NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) GTGTTTTTTTAGTTTTCAGGA 0.473000 9 55 0 0 1 0 0 FAM50A 9130 broad.mit.edu 37 X 153673979 153673979 + Splice_Site SNP A A T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chrX:153673979A>T ENST00000393600.3 + 2 221 c.e2-1 NM_004699.3 NP_004690.1 Q14320 FA50A_HUMAN family with sequence similarity 50, member A spermatogenesis nucleus breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1) 15 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CACTCCCCGCAGGAGAACATC 0.572000 8 9 0 0 1 0 0 BPIFC 254240 broad.mit.edu 37 22 32815351 32815351 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr22:32815351C>G ENST00000397452.1 - 13 1368 c.1258G>C c.(1258-1260)Gag>Cag p.E420Q BPIFC_ENST00000534972.1_Missense_Mutation_p.E144Q|BPIFC_ENST00000432451.2_Missense_Mutation_p.E177Q|BPIFC_ENST00000300399.3_Missense_Mutation_p.E420Q Q8NFQ6 BPIL2_HUMAN BPI fold containing family C 420 extracellular region lipopolysaccharide binding|phospholipid binding ATTCCTACCTCAATGTTGCTG 0.393000 37 50 0 0 1 0 0 CENPBD1 92806 broad.mit.edu 37 16 90038223 90038223 + Silent SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr16:90038223C>T ENST00000314994.3 - 1 719 c.108G>A c.(106-108)gcG>gcA p.A36A RP11-566K11.5_ENST00000565150.1_RNA|CENPBD1_ENST00000567035.1_Intron NM_145039.3 NP_659476.2 B2RD01 CENP1_HUMAN CENPB DNA-binding domains containing 1 36 HTH psq-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(1)|lung(2) 3 GCTTCTCACCCGCTTCAAATC 0.463000 6 23 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542370 133542370 + Missense_Mutation SNP C C G TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr2:133542370C>G ENST00000409261.1 - 14 2387 c.2014G>C c.(2014-2016)Gat>Cat p.D672H NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D672H NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 672 protein binding p.D672N(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 TCTTCCGCATCAAATATCACA 0.443000 25 47 0 0 1 0 0 LPPR2 64748 broad.mit.edu 37 19 11472107 11472107 + Silent SNP C C T TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr19:11472107C>T ENST00000251473.5 + 6 982 c.606C>T c.(604-606)cgC>cgT p.R202R DKFZP761J1410_ENST00000591608.1_Silent_p.R177R NM_001170635.1|NM_022737.2 NP_001164106.1|NP_073574.2 CCGCCGCGCGCCGCGCCTTCC 0.697000 9 20 0 0 1 0 0 NPHS2 7827 broad.mit.edu 37 1 179544950 179544950 + Frame_Shift_Del DEL C C - TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr1:179544950delC ENST00000367615.4 - 1 118 c.50delG c.(49-51)ggcfs p.G17fs NPHS2_ENST00000367616.4_Frame_Shift_Del_p.G17fs NM_014625.2 NP_055440.1 Q9NP85 PODO_HUMAN nephrosis 2, idiopathic, steroid-resistant (podocin) 17 excretion integral to plasma membrane protein binding NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 20 CGGAGTCCTGCCGCCTCGCCC 0.751 2 4 --- --- --- --- RP11-608O21.1 0 broad.mit.edu 37 4 19815895 19815895 + RNA DEL A A - rs145239076 TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr4:19815895delA ENST00000511431.1 + 0 288 TCTGGGCTGTaaaaaaaaaaa 0.413 3 3 --- --- --- --- ZNF395 55893 broad.mit.edu 37 8 28209134 28209135 + Frame_Shift_Ins INS - - A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr8:28209134_28209135insA ENST00000344423.5 - 7 1241_1242 c.1110_1111insT c.(1108-1113)cctctgfs p.L371fs ZNF395_ENST00000523202.1_Frame_Shift_Ins_p.L371fs|ZNF395_ENST00000523095.1_Frame_Shift_Ins_p.L371fs NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 371 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GCTTTGTGCAGAGGTGGTGGAA 0.663 14 88 --- --- --- --- ZNF106 64397 broad.mit.edu 37 15 42740304 42740305 + In_Frame_Ins INS - - CAT TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr15:42740304_42740305insCAT ENST00000263805.4 - 3 3357_3358 c.3031_3032insATG c.(3031-3033)ggc>gATGgc p.1010_1011insD ZNF106_ENST00000565380.1_In_Frame_Ins_p.238_239insD|ZNF106_ENST00000565611.1_In_Frame_Ins_p.195_196insD NM_001284306.1|NM_001284307.1|NM_022473.1 NP_001271235.1|NP_001271236.1|NP_071918.1 zinc finger protein 106 AATACTTTGGCCATCATTTTGT 0.446 27 152 --- --- --- --- MESP2 145873 broad.mit.edu 37 15 90320121 90320144 + In_Frame_Del DEL AGGGGCAGGGGCAAGGGCAGGGGC AGGGGCAGGGGCAAGGGCAGGGGC - rs56192595 TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC ENST00000341735.3 + 1 533_556 c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC c.(532-558)gaggggcaggggcaagggcaggggcag>gag p.GQGQGQGQ195del MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 195 13 X 2 AA tandem repeats of G-Q. Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(1) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg 0.777 3 5 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20409068 20409068 + RNA DEL T T - TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chr19:20409068delT ENST00000593655.1 - 0 199 CACAAATATCTGCATGATTTT 0.353 6 4 --- --- --- --- UTY 7404 broad.mit.edu 37 Y 15448217 15448218 + Splice_Site INS - - A TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7120fd44-42a9-4d54-95e3-98c1cf763331 cb5cee13-875e-495c-9be6-1faa417254ab g.chrY:15448217_15448218insA ENST00000331397.4 - 16 2778 c.e16-2 UTY_ENST00000329134.5_Splice_Site|UTY_ENST00000537580.1_Splice_Site|UTY_ENST00000362096.4_Splice_Site|UTY_ENST00000538878.1_Splice_Site|UTY_ENST00000545955.1_Splice_Site|UTY_ENST00000382896.4_Splice_Site|UTY_ENST00000540140.1_Splice_Site NM_001258267.1|NM_007125.4 NP_001245196.1|NP_009056.3 O14607 UTY_HUMAN ubiquitously transcribed tetratricopeptide repeat containing, Y-linked chromatin modification nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(1)|lung(6) 7 ATGAAGCCCCTAAAAAAAAAAA 0.361 3 4 --- --- --- ---