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 RNF181 51255 broad.mit.edu 37 2 85822893 85822893 + Missense_Mutation SNP T T C TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr2:85822893T>C ENST00000441634.1 + 1 46 c.7T>C c.(7-9)Tcc>Ccc p.S3P RNF181_ENST00000306368.4_Missense_Mutation_p.S3P Q9P0P0 RN181_HUMAN ring finger protein 181 3 ligase activity|zinc ion binding lung(1)|stomach(1) 2 AGCCATGGCGTCCTATTTCGA 0.642000 6 41 0 0 1 0 0 COX15 1355 broad.mit.edu 37 10 101491747 101491747 + Silent SNP G G A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr10:101491747G>A ENST00000370483.5 - 1 110 c.60C>T c.(58-60)ctC>ctT p.L20L CUTC_ENST00000493385.1_Intron|COX15_ENST00000016171.5_Silent_p.L20L NM_004376.5|NM_078470.4 NP_004367.2|NP_510870.1 Q7KZN9 COX15_HUMAN cytochrome c oxidase assembly homolog 15 (yeast) 20 heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(252;0.234) Epithelial(162;3.08e-10)|all cancers(201;2.43e-08) TAGGAGCCAGGAGCGGCAGAT 0.612000 5 15 0 0 1 0 0 SUPT5H 6829 broad.mit.edu 37 19 39955456 39955456 + Missense_Mutation SNP G G A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr19:39955456G>A ENST00000599117.1 + 12 1010 c.643G>A c.(643-645)Gta>Ata p.V215I SUPT5H_ENST00000359191.6_Missense_Mutation_p.V211I|SUPT5H_ENST00000598725.1_Missense_Mutation_p.V215I|SUPT5H_ENST00000402194.2_Missense_Mutation_p.V211I|SUPT5H_ENST00000432763.2_Missense_Mutation_p.V215I O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 215 Interaction with SUPT4H1. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GATCAAGTCAGTAGTGGCACC 0.572000 7 181 0 0 1 0 0 ANKS3 124401 broad.mit.edu 37 16 4750876 4750876 + Missense_Mutation SNP G G A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr16:4750876G>A ENST00000450067.2 - 7 1071 c.761C>T c.(760-762)gCt>gTt p.A254V ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000304283.4_Intron Q6ZW76 ANKS3_HUMAN ankyrin repeat and sterile alpha motif domain containing 3 0 endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 19 TGTTCTCCTAGCAGCGCCTGG 0.577000 21 136 0 0 1 0 0 ZNF383 163087 broad.mit.edu 37 19 37734477 37734477 + Missense_Mutation SNP G G A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr19:37734477G>A ENST00000589413.1 + 8 1922 c.1339G>A c.(1339-1341)Gaa>Aaa p.E447K ZNF383_ENST00000352998.3_Missense_Mutation_p.E447K|ZNF383_ENST00000590503.1_Missense_Mutation_p.E447K Q8NA42 ZN383_HUMAN zinc finger protein 383 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1) 15 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCACACTGGTGAAAAGCCCTA 0.348000 66 54 0 0 1 0 0 PICK1 9463 broad.mit.edu 37 22 38470949 38470949 + Missense_Mutation SNP G G A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr22:38470949G>A ENST00000404072.3 + 13 1405 c.1058G>A c.(1057-1059)cGg>cAg p.R353Q PICK1_ENST00000356976.3_Missense_Mutation_p.R353Q NM_001039583.1|NM_001039584.1 NP_001034672.1|NP_001034673.1 Q9NRD5 PICK1_HUMAN protein interacting with PRKCA 1 353 AH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Melanoma(58;0.045) GCAGTGCTGCGGGATGCCGAC 0.617000 28 36 0 0 1 0 0 PRRC2B 84726 broad.mit.edu 37 9 134351701 134351701 + Silent SNP C C T TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr9:134351701C>T ENST00000357304.4 + 15 4240 c.4185C>T c.(4183-4185)tcC>tcT p.S1395S PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 1395 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 GCCCTGGGTCCGAGCCCGACT 0.647000 OREG0019561 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 3 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296373 145296373 + Missense_Mutation SNP G G T rs3969711 TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr1:145296373G>T ENST00000342960.5 + 3 330 c.295G>T c.(295-297)Gtt>Ttt p.V99F RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 99 p.V99F(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TAAAGTCCTAGTTCACTCTCA 0.473000 5 80 0.000157383 0.000168493 1 1 0 KIFC3 3801 broad.mit.edu 37 16 57795055 57795055 + Missense_Mutation SNP G G C TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr16:57795055G>C ENST00000379655.4 - 15 2158 c.1901C>G c.(1900-1902)aCg>aGg p.T634R KIFC3_ENST00000562903.1_Missense_Mutation_p.T495R|KIFC3_ENST00000465878.2_Missense_Mutation_p.T495R|KIFC3_ENST00000421376.2_Missense_Mutation_p.T495R|KIFC3_ENST00000539578.1_Missense_Mutation_p.T576R|KIFC3_ENST00000543930.1_Missense_Mutation_p.T492R|KIFC3_ENST00000541240.1_Missense_Mutation_p.T656R|KIFC3_ENST00000445690.2_Missense_Mutation_p.T634R|KIFC3_ENST00000540079.2_Missense_Mutation_p.T532R NM_005550.3 NP_005541.3 Q9BVG8 KIFC3_HUMAN kinesin family member C3 634 Kinesin-motor. epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens ATP binding|microtubule motor activity breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(199;0.224) GAACTCGGTCGTGCGATTAGT 0.632000 11 85 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52320810 52320810 + Missense_Mutation SNP C C A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr8:52320810C>A ENST00000356297.4 - 17 3474 c.3374G>T c.(3373-3375)aGg>aTg p.R1125M PXDNL_ENST00000543296.1_Missense_Mutation_p.R1125M NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1125 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GGAGAAGAGCCTCTGGGTCAG 0.577000 27 99 1.2476e-16 1.55523e-16 1 1 0 UST 10090 broad.mit.edu 37 6 149395011 149395011 + Missense_Mutation SNP C C A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr6:149395011C>A ENST00000367463.4 + 8 1083 c.980C>A c.(979-981)aCt>aAt p.T327N UST_ENST00000466695.1_3'UTR NM_005715.2 NP_005706.1 Q9Y2C2 UST_HUMAN uronyl-2-sulfotransferase 327 protein sulfation Golgi membrane|integral to membrane sulfotransferase activity breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2) 12 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138) GTGAAGAAGACTGTCCCCTCT 0.527000 17 39 4.7546e-09 5.40836e-09 1 1 0 MALAT1 0 broad.mit.edu 37 11 65266213 65266213 + RNA SNP A A T TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr11:65266213A>T ENST00000534336.1 + 0 981 NR_002819.2 GAGGTATTTTAAAAGTTCCGG 0.378000 13 151 0 0 1 0 0 TARS2 80222 broad.mit.edu 37 1 150478148 150478148 + Silent SNP C C A rs146012895 TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr1:150478148C>A ENST00000369064.3 + 17 2009 c.1975C>A c.(1975-1977)Cgg>Agg p.R659R TARS2_ENST00000606933.1_Silent_p.R577R|TARS2_ENST00000369054.2_Silent_p.R529R NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 659 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) GAGAATCCGCCGGGCCCAGCT 0.557000 5 98 0.000602214 0.000622744 1 1 0 MARS 4141 broad.mit.edu 37 12 57882857 57882857 + Silent SNP C C T TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr12:57882857C>T ENST00000262027.5 + 2 299 c.165C>T c.(163-165)agC>agT p.S55S MARS_ENST00000447721.2_Intron|MARS_ENST00000315473.5_5'UTR NM_004990.3 NP_004981.2 P56192 SYMC_HUMAN methionyl-tRNA synthetase 55 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 33 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) AGCTGGATAGCGGCAACTACC 0.483000 11 78 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 7075 7075 + Missense_Mutation SNP G G A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chrM:7075G>A ENST00000361624.2 + 1 1172 c.1172G>A c.(1171-1173)gGa>gAa p.391_391insE mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 TGCCATCATAGGAGGCTTCAT 0.423000 20 104 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103788 53103788 + Missense_Mutation SNP G G A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr7:53103788G>A ENST00000408890.4 + 1 440 c.424G>A c.(424-426)Gcg>Acg p.A142T NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 142 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CATCGGGATCGCGCCCCCTGA 0.721000 10 49 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936092 178936092 + Missense_Mutation SNP A A C rs121913274 TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr3:178936092A>C ENST00000263967.3 + 10 1791 c.1634A>C c.(1633-1635)gAg>gCg p.E545A NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545A(96)|p.E545G(78)|p.E545V(4) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GAAATCACTGAGCAGGAGAAA 0.353000 E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 7 19 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121732502 121732502 + Silent SNP C C A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr2:121732502C>A ENST00000452319.1 + 9 1245 c.1185C>A c.(1183-1185)ggC>ggA p.G395G GLI2_ENST00000435313.2_Intron|GLI2_ENST00000361492.4_Silent_p.G395G|GLI2_ENST00000314490.11_Silent_p.G67G P10070 GLI2_HUMAN GLI family zinc finger 2 395 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CTTTTCAGGGCCAGGTGTCTG 0.567000 15 72 3.35478e-16 4.12547e-16 1 1 0 ZNF462 58499 broad.mit.edu 37 9 109691937 109691937 + Missense_Mutation SNP A A G TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr9:109691937A>G ENST00000277225.5 + 3 6033 c.5744A>G c.(5743-5745)aAt>aGt p.N1915S ZNF462_ENST00000457913.1_Missense_Mutation_p.N1915S|ZNF462_ENST00000441147.2_Missense_Mutation_p.N760S Q96JM2 ZN462_HUMAN zinc finger protein 462 1915 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 AACATTCACAATGAGGAATTC 0.493000 17 47 0 0 1 0 0 DCTN5 84516 broad.mit.edu 37 16 23654275 23654275 + Splice_Site SNP G G C TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr16:23654275G>C ENST00000300087.2 + 2 199 c.e2-1 DCTN5_ENST00000568589.1_Splice_Site|DCTN5_ENST00000568272.1_Splice_Site|DCTN5_ENST00000563998.1_Splice_Site NM_001199743.1|NM_032486.3 NP_001186672.1|NP_115875.1 Q9BTE1 DCTN5_HUMAN dynactin 5 (p25) centrosome transferase activity endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 10 GBM - Glioblastoma multiforme(48;0.0156) TTTTCTTTTAGGCATCTGGGA 0.443000 15 78 0 0 1 0 0 CPQ 10404 broad.mit.edu 37 8 97847356 97847356 + Missense_Mutation SNP G G T rs113098340 TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr8:97847356G>T ENST00000220763.5 + 3 799 c.589G>T c.(589-591)Gtg>Ttg p.V197L NM_016134.2 NP_057218.1 Q9Y646 PGCP_HUMAN carboxypeptidase Q 197 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity AGCTGCCAAGGTGGGGGCTTT 0.478000 5 70 0.014758 0.014922 1 1 0 FCRL3 115352 broad.mit.edu 37 1 157665945 157665945 + Silent SNP C C A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr1:157665945C>A ENST00000368184.3 - 7 1308 c.1017G>T c.(1015-1017)ctG>ctT p.L339L FCRL3_ENST00000368186.5_Silent_p.L339L|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 339 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) GCTCTGCCAACAGGGAACGCT 0.522000 22 65 3.5997e-14 4.31017e-14 1 1 0 C1orf43 25912 broad.mit.edu 37 1 154186393 154186393 + Missense_Mutation SNP C C G TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr1:154186393C>G ENST00000368521.5 - 4 514 c.316G>C c.(316-318)Gct>Cct p.A106P C1orf43_ENST00000350592.3_Missense_Mutation_p.A72P|C1orf43_ENST00000362076.4_Intron|C1orf43_ENST00000368516.1_Missense_Mutation_p.A72P|C1orf43_ENST00000368519.1_Intron|C1orf43_ENST00000368518.1_Missense_Mutation_p.A106P NM_001098616.1 NP_001092086.1 Q9BWL3 CA043_HUMAN chromosome 1 open reading frame 43 106 integral to membrane coenzyme binding|oxidoreductase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 10 all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877) GCATCCAGAGCTTTCATCCTA 0.488000 32 103 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 6 110 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53574727 53574727 + Missense_Mutation SNP G G T TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chrX:53574727G>T ENST00000342160.3 - 67 11000 c.10543C>A c.(10543-10545)Cca>Aca p.P3515T HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.P3515T Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3515 Thr-rich. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 ACCAGGGCTGGAGCAGAAGTG 0.592000 8 29 1.12685e-05 1.22075e-05 1 1 0 SEC61A1 29927 broad.mit.edu 37 3 127786361 127786361 + Missense_Mutation SNP C C T TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr3:127786361C>T ENST00000243253.3 + 10 1257 c.1073C>T c.(1072-1074)cCg>cTg p.P358L SEC61A1_ENST00000424880.2_Missense_Mutation_p.P238L|SEC61A1_ENST00000483956.1_3'UTR|RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000464451.1_Missense_Mutation_p.P364L NM_013336.3 NP_037468.1 P61619 S61A1_HUMAN Sec61 alpha 1 subunit (S. cerevisiae) 358 protein targeting to ER integral to endoplasmic reticulum membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4) 21 TTAGAAGACCCGGTCCATGCA 0.512000 14 96 0 0 1 0 0 PCDHA7 0 broad.mit.edu 37 5 140214339 140214339 + Missense_Mutation SNP A A G rs61730624 TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr5:140214339A>G ENST00000525929.1 + 1 371 c.371A>G c.(370-372)aAg>aGg p.K124R PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.K124R|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGAGGTGAAGGACATTAAC 0.607000 20 227 0 0 1 0 0 PDIA4 9601 broad.mit.edu 37 7 148718139 148718139 + Silent SNP T T C TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr7:148718139T>C ENST00000286091.4 - 2 421 c.189A>G c.(187-189)ggA>ggG p.G63G NM_004911.4 NP_004902.1 P13667 PDIA4_HUMAN protein disulfide isomerase family A, member 4 63 Thioredoxin 1. cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) GGACCAAGACTCCATTTTCTT 0.418000 7 22 0 0 1 0 0 PXN 5829 broad.mit.edu 37 12 120652778 120652778 + Silent SNP C C T TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr12:120652778C>T ENST00000397506.3 - 6 1617 c.564G>A c.(562-564)acG>acA p.T188T PXN_ENST00000424649.2_Silent_p.T342T|PXN_ENST00000228307.7_Silent_p.T376T|PXN_ENST00000267257.7_Silent_p.T390T|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000536957.1_Silent_p.T374T|PXN_ENST00000458477.2_Silent_p.T209T P49023 PAXI_HUMAN paxillin 376 cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly cytoplasm|focal adhesion|lamellipodium|microtubule associated complex beta-catenin binding|vinculin binding|zinc ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CGGGGTGCCACGTCTTCCCCA 0.642000 5 29 0 0 1 0 0 ZFAT 57623 broad.mit.edu 37 8 135521992 135521992 + Splice_Site SNP C C T TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr8:135521992C>T ENST00000520727.1 - 16 3625 c.3325_splice c.e16-1 p.G1109_splice ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000520214.1_Splice_Site_p.G1109_splice|ZFAT_ENST00000377838.3_Splice_Site_p.G1121_splice|ZFAT_ENST00000429442.2_Splice_Site_p.G1109_splice|ZFAT_ENST00000523399.1_Splice_Site_p.G1059_splice NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 1121 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) CAGTCGGTCGCCTTAAGAGGA 0.587000 26 144 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45636162 45636162 + Missense_Mutation SNP C C A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr14:45636162C>A ENST00000267430.5 + 11 1883 c.1798C>A c.(1798-1800)Cag>Aag p.Q600K FANCM_ENST00000556036.1_Missense_Mutation_p.Q600K|FANCM_ENST00000542564.2_Missense_Mutation_p.Q574K NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 600 Helicase C-terminal. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 GATTTATAATCAGAGTCAGTC 0.279000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 13 41 4.3838e-07 4.86495e-07 1 1 0 WNT7A 7476 broad.mit.edu 37 3 13896248 13896248 + Silent SNP G G A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr3:13896248G>A ENST00000285018.4 - 3 655 c.351C>T c.(349-351)caC>caT p.H117H NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 117 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 CTGTGATGGCGTGGGCCACGC 0.642000 21 93 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107408631 107408631 + Missense_Mutation SNP G G T TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chrX:107408631G>T ENST00000394872.2 - 38 4011 c.3780C>A c.(3778-3780)gaC>gaA p.D1260E COL4A6_ENST00000372216.4_Missense_Mutation_p.D1260E|COL4A6_ENST00000334504.7_Missense_Mutation_p.D1259E|COL4A6_ENST00000545689.1_Missense_Mutation_p.D1235E|COL4A6_ENST00000538570.1_Missense_Mutation_p.D1235E Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 1260 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 GTCGCCCGGGGTCACCAGGCT 0.557000 Alport syndrome with Diffuse Leiomyomatosis 30 126 3.1745e-13 3.75168e-13 1 1 0 MYO3A 53904 broad.mit.edu 37 10 26434431 26434431 + Missense_Mutation SNP C C A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr10:26434431C>A ENST00000265944.5 + 22 2639 c.2473C>A c.(2473-2475)Ctt>Att p.L825I MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 825 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 AAGAATGGAACTTAGTTTTGG 0.328000 5 29 4.096e-09 4.77867e-09 1 1 0 STK3 6788 broad.mit.edu 37 8 99539092 99539092 + Missense_Mutation SNP T T C TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr8:99539092T>C ENST00000523601.1 - 12 1678 c.1279A>G c.(1279-1281)Aag>Gag p.K427E STK3_ENST00000419617.2_Missense_Mutation_p.K399E NM_001256312.1 NP_001243241.1 Q13188 STK3_HUMAN serine/threonine kinase 3 399 apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis cytoplasm|nucleus ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 Breast(36;2.4e-06) Breast(495;0.106) OV - Ovarian serous cystadenocarcinoma(57;0.0382) KIRC - Kidney renal clear cell carcinoma(542;9.44e-06) AAGTCTTGCTTATCAAAGTAG 0.363000 20 60 0 0 1 0 0 PRDM8 56978 broad.mit.edu 37 4 81123265 81123265 + Missense_Mutation SNP C C G TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr4:81123265C>G ENST00000339711.4 + 10 1880 c.649C>G c.(649-651)Cag>Gag p.Q217E PRDM8_ENST00000415738.2_Missense_Mutation_p.Q217E|PRDM8_ENST00000504452.1_Missense_Mutation_p.Q217E NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 217 Gly-rich.|Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 gcagcagcagcagGAGGCACC 0.672000 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 90 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24921416 24921416 + Silent SNP G G A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr15:24921416G>A ENST00000329468.2 + 1 876 c.402G>A c.(400-402)gcG>gcA p.A134A NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GTGAGCCGGCGGTCAAGGCCA 0.632000 8 57 0 0 1 0 0 WWC3 55841 broad.mit.edu 37 X 10066584 10066584 + Silent SNP C C A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chrX:10066584C>A ENST00000380861.4 + 8 1087 c.696C>A c.(694-696)gtC>gtA p.V232V WWC3_ENST00000454666.1_Silent_p.V232V NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 232 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 TAGACCGAGTCAGACTTAATT 0.368000 8 26 0.000274275 0.000290221 1 1 0 SCN10A 6336 broad.mit.edu 37 3 38798315 38798315 + Silent SNP T T G TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr3:38798315T>G ENST00000449082.2 - 9 1139 c.1140A>C c.(1138-1140)gtA>gtC p.V380V NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 380 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CCAGGAAGATTACGAGCACAA 0.463000 18 140 0 0 1 0 0 NXF5 55998 broad.mit.edu 37 X 101092527 101092527 + Missense_Mutation SNP A A T TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chrX:101092527A>T ENST00000537026.1 - 15 1378 c.1019T>A c.(1018-1020)gTg>gAg p.V340E NXF5_ENST00000473265.2_Missense_Mutation_p.V340E|NXF5_ENST00000361708.2_Missense_Mutation_p.V340E NM_032946.2 NP_116564.2 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 340 NTF2; truncated. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 CCACATGTCCACCAGGATGGA 0.562000 51 176 0 0 1 0 0 PYCR2 29920 broad.mit.edu 37 1 226109286 226109286 + Missense_Mutation SNP C C T TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr1:226109286C>T ENST00000343818.6 - 5 747 c.599G>A c.(598-600)cGc>cAc p.R200H RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.R126H|PYCR2_ENST00000478402.1_5'UTR NM_013328.2 NP_037460.2 Q96C36 P5CR2_HUMAN pyrroline-5-carboxylate reductase family, member 2 200 proline biosynthetic process cytoplasm binding|pyrroline-5-carboxylate reductase activity kidney(1)|lung(3) 4 Breast(184;0.197) L-Proline(DB00172)|NADH(DB00157) GATTGCCAGGCGCCGTGGCAA 0.572000 25 46 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53575115 53575115 + Silent SNP G G A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chrX:53575115G>A ENST00000342160.3 - 67 10612 c.10155C>T c.(10153-10155)tgC>tgT p.C3385C HUWE1_ENST00000262854.6_Silent_p.C3385C Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3385 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 AGAAGTCTGTGCAAATGCCAC 0.532000 5 19 0 0 1 0 0 CLDN4 1364 broad.mit.edu 37 7 73245572 73245572 + Missense_Mutation SNP C C G TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr7:73245572C>G ENST00000435050.1 + 2 2721 c.41C>G c.(40-42)gCc>gGc p.A14G CLDN4_ENST00000340958.2_Missense_Mutation_p.A14G|CLDN4_ENST00000431918.1_Missense_Mutation_p.A14G O14493 CLD4_HUMAN claudin 4 14 calcium-independent cell-cell adhesion integral to plasma membrane|tight junction identical protein binding|structural molecule activity|transmembrane receptor activity kidney(2)|lung(4)|urinary_tract(1) 7 Lung NSC(55;0.159) ATCGCGCTGGCCGTCCTGGGC 0.657000 8 99 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578265 7578265 + Missense_Mutation SNP A A G TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr17:7578265A>G ENST00000420246.2 - 6 716 c.584T>C c.(583-585)aTc>aCc p.I195T TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000269305.4_Missense_Mutation_p.I195T|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 195 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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) TTCCACTCGGATAAGATGCTG 0.552000 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) 12 39 0 0 1 0 0 PYGM 5837 broad.mit.edu 37 11 64519437 64519437 + Missense_Mutation SNP C C T TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr11:64519437C>T ENST00000164139.3 - 14 2125 c.1727G>A c.(1726-1728)cGa>cAa p.R576Q PYGM_ENST00000377432.3_Missense_Mutation_p.R488Q|PYGM_ENST00000462303.1_5'UTR NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 576 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding p.R576Q(1) cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) GAGGAGCTGTCGTTTATATTC 0.517000 9 83 0 0 1 0 0 KRT76 51350 broad.mit.edu 37 12 53162588 53162588 + Missense_Mutation SNP C C A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr12:53162588C>A ENST00000332411.2 - 9 1879 c.1826G>T c.(1825-1827)gGa>gTa p.G609V NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 609 Tail. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GCCACTTCCTCCAGAAGTCTG 0.582000 15 95 4.7546e-09 5.40836e-09 1 1 0 ARFGEF2 10564 broad.mit.edu 37 20 47605195 47605195 + Silent SNP G G A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr20:47605195G>A ENST00000371917.4 + 18 2529 c.2529G>A c.(2527-2529)aaG>aaA p.K843K NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 843 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) AATCTACTAAGCAGAGTAAGG 0.323000 14 64 0 0 1 0 0 ACOT2 10965 broad.mit.edu 37 14 74036495 74036495 + Missense_Mutation SNP A A G TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr14:74036495A>G ENST00000238651.5 + 1 733 c.551A>G c.(550-552)cAg>cGg p.Q184R ACOT2_ENST00000538782.1_Intron NM_006821.5 NP_006812.3 P49753 ACOT2_HUMAN acyl-CoA thioesterase 2 184 acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process mitochondrion carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding p.Q184R(1) breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639) CTGCTGTGCCAGACGCGGCAC 0.736000 3 5 0 0 1 0 0 MAGEA11 4110 broad.mit.edu 37 X 148798278 148798278 + Missense_Mutation SNP G G A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chrX:148798278G>A ENST00000355220.5 + 5 1234 c.1132G>A c.(1132-1134)Gat>Aat p.D378N MAGEA11_ENST00000333104.4_Missense_Mutation_p.D349N NM_005366.4 NP_005357.2 P43364 MAGAB_HUMAN melanoma antigen family A, 11 378 MAGE. cytoplasm|nucleus protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GCCCGGCACTGATCCTGCATG 0.557000 60 227 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55943228 55943228 + Missense_Mutation SNP C C T TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr10:55943228C>T ENST00000373965.2 - 14 1981 c.1587G>A c.(1585-1587)atG>atA p.M529I PCDH15_ENST00000395430.1_Missense_Mutation_p.M522I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.M522I|PCDH15_ENST00000395432.2_Missense_Mutation_p.M485I|PCDH15_ENST00000414778.1_Missense_Mutation_p.M527I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.M500I|PCDH15_ENST00000395438.1_Missense_Mutation_p.M522I|PCDH15_ENST00000437009.1_Missense_Mutation_p.M522I|PCDH15_ENST00000361849.3_Missense_Mutation_p.M522I|PCDH15_ENST00000409834.1_Missense_Mutation_p.M133I|PCDH15_ENST00000373955.1_Missense_Mutation_p.M522I|PCDH15_ENST00000395445.1_Missense_Mutation_p.M529I|PCDH15_ENST00000395446.1_Missense_Mutation_p.M522I|PCDH15_ENST00000373957.3_Missense_Mutation_p.M500I NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 522 Cadherin 5. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CCCCAGGTCTCATGTCTGTAT 0.378000 HNSCC(58;0.16) 4 59 0 0 1 0 0 RHOXF1 158800 broad.mit.edu 37 X 119249749 119249749 + Missense_Mutation SNP G G T TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chrX:119249749G>T ENST00000217999.2 - 1 98 c.24C>A c.(22-24)gaC>gaA p.D8E RP4-755D9.1_ENST00000553843.1_RNA NM_139282.1 NP_644811.1 Q8NHV9 RHXF1_HUMAN Rhox homeobox family, member 1 8 gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 10 AGAACACGGTGTCGTGGACGA 0.607000 21 77 8.34094e-07 9.14488e-07 1 1 0 HAPLN1 1404 broad.mit.edu 37 5 82940357 82940357 + Silent SNP G G A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr5:82940357G>A ENST00000274341.4 - 4 1450 c.600C>T c.(598-600)ggC>ggT p.G200G NM_001884.3 NP_001875.1 P10915 HPLN1_HUMAN hyaluronan and proteoglycan link protein 1 200 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) AGTCCAGCCCGCCCCGCCAGG 0.622000 16 50 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89351378 89351378 + Silent SNP C C A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr16:89351378C>A ENST00000301030.4 - 9 2032 c.1572G>T c.(1570-1572)tcG>tcT p.S524S ANKRD11_ENST00000378330.2_Silent_p.S524S NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 524 Ser-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TCCCGTGAGACGAGGTGGAGG 0.622000 4 68 0.000602214 0.000622744 1 1 0 SYNE4 163183 broad.mit.edu 37 19 36499487 36499487 + Missense_Mutation SNP C C G TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr19:36499487C>G ENST00000324444.3 - 1 208 c.97G>C c.(97-99)Gtc>Ctc p.V33L SYNE4_ENST00000340477.5_Missense_Mutation_p.V33L NM_001039876.1 NP_001034965.1 spectrin repeat containing, nuclear envelope family member 4 GCGGGGCAGACGGTGCATCCA 0.652000 10 166 0 0 1 0 0 KLHL13 90293 broad.mit.edu 37 X 117054245 117054245 + Missense_Mutation SNP A A G TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chrX:117054245A>G ENST00000371876.1 - 2 2597 c.176T>C c.(175-177)gTc>gCc p.V59A KLHL13_ENST00000371882.1_Missense_Mutation_p.V59A|KLHL13_ENST00000469946.1_Missense_Mutation_p.V59A|KLHL13_ENST00000545703.1_Missense_Mutation_p.V68A|KLHL13_ENST00000540167.1_Missense_Mutation_p.V94A|KLHL13_ENST00000262820.3_Missense_Mutation_p.V110A|KLHL13_ENST00000539496.1_Missense_Mutation_p.V113A|KLHL13_ENST00000541812.1_Missense_Mutation_p.V94A|KLHL13_ENST00000371878.1_Missense_Mutation_p.V59A Q9P2N7 KLH13_HUMAN kelch-like family member 13 110 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 TGCCATCATGACTCTATGCAC 0.418000 27 95 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56386441 56386441 + Missense_Mutation SNP C C T TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr17:56386441C>T ENST00000355701.3 - 22 5062 c.4192G>A c.(4192-4194)Gga>Aga p.G1398R BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1338R|BZRAP1_ENST00000343736.4_Missense_Mutation_p.G1398R NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1398 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCAACTAATCCAGGCATGTCT 0.652000 46 104 0 0 1 0 0 PHACTR3 116154 broad.mit.edu 37 20 58348375 58348375 + Missense_Mutation SNP G G A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr20:58348375G>A ENST00000371015.1 + 6 1260 c.793G>A c.(793-795)Gac>Aac p.D265N PHACTR3_ENST00000541461.1_Missense_Mutation_p.D224N|PHACTR3_ENST00000359926.3_Missense_Mutation_p.D262N|PHACTR3_ENST00000355648.4_Missense_Mutation_p.D224N|PHACTR3_ENST00000395636.2_Missense_Mutation_p.D224N|PHACTR3_ENST00000361300.4_Missense_Mutation_p.D154N|PHACTR3_ENST00000395639.4_Missense_Mutation_p.D154N NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 265 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) GAAGAGTGCCGACCCTTCCCT 0.627000 5 162 0 0 1 0 0 NDN 4692 broad.mit.edu 37 15 23931765 23931765 + Silent SNP C C G TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr15:23931765C>G ENST00000331837.4 - 1 685 c.600G>C c.(598-600)gtG>gtC p.V200V NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 200 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CGCGGCCCTTCACGTAGATGA 0.662000 Prader-Willi syndrome 12 46 0 0 1 0 0 PCDHGA6 0 broad.mit.edu 37 5 140754980 140754980 + Missense_Mutation SNP G G A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr5:140754980G>A ENST00000517434.1 + 1 1330 c.1330G>A c.(1330-1332)Gac>Aac p.D444N PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAATGTGGCAGACACCAACGA 0.498000 23 161 0 0 1 0 0 ZNF567 163081 broad.mit.edu 37 19 37210154 37210154 + Silent SNP T T C TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr19:37210154T>C ENST00000585696.1 + 3 1665 c.435T>C c.(433-435)acT>acC p.T145T ZNF567_ENST00000588311.1_Silent_p.T145T|ZNF567_ENST00000536254.2_Silent_p.T176T|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Silent_p.T145T|ZNF567_ENST00000360729.4_Silent_p.T145T Q8N184 ZN567_HUMAN zinc finger protein 567 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AACAAGAGACTACTCATCCTG 0.368000 12 46 0 0 1 0 0 NEDD4 4734 broad.mit.edu 37 15 56209012 56209012 + Silent SNP T T A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr15:56209012T>A ENST00000508342.1 - 1 317 c.18A>T c.(16-18)cgA>cgT p.R6R NEDD4_ENST00000506154.1_Silent_p.R6R|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Silent_p.R6R P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 6 development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) CAAAGTGCAATCGTAAGCTTT 0.443000 11 101 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111096 57111096 + Silent SNP T T C TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr12:57111096T>C ENST00000454682.1 - 3 4499 c.4218A>G c.(4216-4218)gcA>gcG p.A1406A NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GAGGAATCACTGCTGGGGAAG 0.597000 T BCL6 NHL 12 26 0 0 1 0 0 HP1BP3 50809 broad.mit.edu 37 1 21100010 21100010 + Missense_Mutation SNP C C A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr1:21100010C>A ENST00000312239.5 - 5 583 c.444G>T c.(442-444)caG>caT p.Q148H HP1BP3_ENST00000375003.2_5'UTR NM_016287.3 NP_057371.2 Q5SSJ5 HP1B3_HUMAN heterochromatin protein 1, binding protein 3 148 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1) 16 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) GTGTTTGTTTCTGGGCCCTGG 0.423000 17 44 4.75885e-15 5.77407e-15 1 1 0 KLB 152831 broad.mit.edu 37 4 39408897 39408897 + Missense_Mutation SNP T T C TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr4:39408897T>C ENST00000257408.4 + 1 425 c.328T>C c.(328-330)Tgg>Cgg p.W110R NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 110 Glycosyl hydrolase-1 1. 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 ACCTTCTATATGGGATCATTT 0.413000 16 43 0 0 1 0 0 PLA2R1 0 broad.mit.edu 37 2 160801542 160801542 + Missense_Mutation SNP C C A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr2:160801542C>A ENST00000283243.7 - 28 4225 c.4019G>T c.(4018-4020)gGc>gTc p.G1340V NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1340 C-type lectin 8. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CTTCCGAATGCCCCAGTTTGA 0.433000 13 35 7.03913e-09 7.90815e-09 1 1 0 MT-ND5 4540 broad.mit.edu 37 MT 12925 12925 + Missense_Mutation SNP G G A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chrM:12925G>A ENST00000361567.2 + 1 589 c.589G>A c.(589-591)Gac>Aac p.D197N P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 197 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) CCAACTCATGAGACCCACAAC 0.498000 51 125 0 0 1 0 0 TUBA4B 0 broad.mit.edu 37 2 220134932 220134932 + RNA SNP C C G TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr2:220134932C>G ENST00000490341.1 + 0 232 NR_003063.1 AGGCACATACCGCCAGATCTT 0.557000 4 12 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40374023 40374023 + Missense_Mutation SNP C C T TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr19:40374023C>T ENST00000221347.6 - 26 12062 c.12055G>A c.(12055-12057)Gtg>Atg p.V4019M NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4019 Cys-rich. 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) TGGCACACCACGACTTTACCC 0.642000 4 24 0 0 1 0 0 CYP2F1 1572 broad.mit.edu 37 19 41628015 41628015 + Missense_Mutation SNP T T A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr19:41628015T>A ENST00000331105.2 + 6 871 c.799T>A c.(799-801)Tgc>Agc p.C267S NM_000774.3 NP_000765.2 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, polypeptide 1 267 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.C267R(2) central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 CTTCATCCAGTGCTTCCTCAC 0.572000 15 18 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101362360 101362360 + Missense_Mutation SNP G G A TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr11:101362360G>A ENST00000344327.3 - 3 1479 c.1055C>T c.(1054-1056)aCg>aTg p.T352M TRPC6_ENST00000532133.1_Missense_Mutation_p.T352M|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000360497.4_Missense_Mutation_p.T352M NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 352 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) ACTCTGGAGCGTTTCAACATC 0.438000 26 61 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111430866 111430866 + Missense_Mutation SNP C C T rs151125401 TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr4:111430866C>T ENST00000265162.5 + 5 1439 c.1097C>T c.(1096-1098)aCg>aTg p.T366M NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 366 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) GGACTCATCACGTACAGAGAA 0.453000 15 90 0 0 1 0 0 LYPLA2 11313 broad.mit.edu 37 1 24120731 24120731 + Missense_Mutation SNP C C G TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr1:24120731C>G ENST00000400061.1 + 7 434 c.313C>G c.(313-315)Cta>Gta p.L105V LYPLA2_ENST00000374514.3_Silent_p.L129L|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374505.2_Missense_Mutation_p.L105V|LYPLA2_ENST00000374501.1_Silent_p.L62L|LYPLA2_ENST00000374503.3_Silent_p.L129L|LYPLA2_ENST00000374502.3_Silent_p.L129L O95372 LYPA2_HUMAN lysophospholipase II 0 fatty acid metabolic process cytoplasm hydrolase activity endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184) CCCTGTCCCTCTACACGGCCC 0.701000 4 25 0 0 1 0 0 OR1L8 138881 broad.mit.edu 37 9 125330723 125330723 + Missense_Mutation SNP C C T rs143007621 TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr9:125330723C>T ENST00000304865.2 - 1 115 c.34G>A c.(34-36)Gag>Aag p.E12K NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 AGGATAAACTCGGAGACACTG 0.458000 4 61 0 0 1 0 0 RSBN1L 222194 broad.mit.edu 37 7 77378907 77378907 + Silent SNP A A G TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr7:77378907A>G ENST00000334955.7 + 3 897 c.870A>G c.(868-870)caA>caG p.Q290Q RSBN1L_ENST00000445288.1_Silent_p.Q20Q NM_198467.2 NP_940869.2 Q6PCB5 RSBNL_HUMAN round spermatid basic protein 1-like 290 nucleus central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTGAAGATCAAGCAGCCAAAG 0.368000 10 73 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19654969 19654969 + Missense_Mutation SNP C C G TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr19:19654969C>G ENST00000586018.1 + 8 1735 c.1633C>G c.(1633-1635)Cct>Gct p.P545A CILP2_ENST00000291495.4_Missense_Mutation_p.P539A Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 539 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity p.P539S(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 CCGGGTCTTGCCTTTTGATCC 0.602000 16 90 0 0 1 0 0 GLCE 26035 broad.mit.edu 37 15 69553589 69553589 + Missense_Mutation SNP G G C TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr15:69553589G>C ENST00000261858.2 + 4 978 c.750G>C c.(748-750)tgG>tgC p.W250C GLCE_ENST00000559500.1_3'UTR|GLCE_ENST00000559420.2_Missense_Mutation_p.W186C NM_015554.1 NP_056369.1 O94923 GLCE_HUMAN glucuronic acid epimerase 250 heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 18 CTAATGACTGGACTGTGCCAA 0.393000 17 88 0 0 1 0 0 IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr1:46184897_46184898delAC ENST00000396478.3 - 6 1265_1266 c.1163_1164delGT c.(1162-1164)tfs p.C388fs NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 388 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TAGCCCCATAACACACACACAC 0.347 7 68 --- --- --- --- ANKRD20A8P 0 broad.mit.edu 37 2 95513688 95513689 + RNA INS - - TA TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr2:95513688_95513689insTA ENST00000432432.2 - 0 850 NR_040113.1 CTCACCTAATGTATAAGATGGA 0.327 7 96 --- --- --- --- IGFBP1 3484 broad.mit.edu 37 7 45928490 45928490 + Frame_Shift_Del DEL G G - TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr7:45928490delG ENST00000275525.3 + 1 535 c.239delG c.(238-240)cgfs p.R80fs IGFBP1_ENST00000457280.1_Frame_Shift_Del_p.R80fs|IGFBP1_ENST00000468955.1_Frame_Shift_Del_p.R80fs NM_000596.2 NP_000587.1 P08833 IBP1_HUMAN insulin-like growth factor binding protein 1 80 IGFBP N-terminal. extracellular space insulin-like growth factor binding large_intestine(2)|lung(4) 6 CGCTGCGCCCGGGGACTCAGT 0.756 2 4 --- --- --- --- FAM74A3 0 broad.mit.edu 37 9 40715923 40715924 + RNA DEL AA AA - rs62565543 TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr9:40715923_40715924delAA ENST00000604146.1 + 0 262_263 NR_026801.1 endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAAGACGTGGAAAGAGCTCAGA 0.569 7 39 --- --- --- --- AXIN2 8313 broad.mit.edu 37 17 63533589 63533591 + In_Frame_Del DEL TGG TGG - TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr17:63533589_63533591delTGG ENST00000307078.5 - 6 1876_1878 c.1563_1565delCCA c.(1561-1566)cat>ca p.HH521del AXIN2_ENST00000375702.5_In_Frame_Del_p.HH521del NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 521 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 GGGGACGGCATGGTGGTGGATGT 0.655 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 7 94 --- --- --- --- SMAD4 4089 broad.mit.edu 37 18 48573424 48573425 + Frame_Shift_Del DEL AT AT - TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr18:48573424_48573425delAT ENST00000342988.3 + 2 546_547 c.8_9delAT c.(7-9)afs p.N3fs RP11-729L2.2_ENST00000588256.1_3'UTR|SMAD4_ENST00000452201.2_Frame_Shift_Del_p.N3fs|SMAD4_ENST00000398417.2_Frame_Shift_Del_p.N3fs|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Frame_Shift_Del_p.N3fs NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 3 BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(5) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) CAAATGGACAATATGTCTATTA 0.356 11 20 --- --- --- --- NAPA-AS1 0 broad.mit.edu 37 19 47987546 47987546 + RNA DEL G G - TCGA-NA-A4R0-01A-11D-A28R-08 TCGA-NA-A4R0-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx ec89bdc8-d603-4989-a40b-1a113e74c6dd a8070b85-a83f-4ac4-a7de-05934dc2af36 g.chr19:47987546delG ENST00000593284.1 + 0 8 GGAAGCTGCCGGCGTTGCCCT 0.682 OREG0025593 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- ---