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 PPP1R16A 84988 broad.mit.edu 37 8 145726659 145726659 + Silent SNP C C T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr8:145726659C>T ENST00000292539.4 + 10 2102 c.1185C>T c.(1183-1185)ctC>ctT p.L395L PPP1R16A_ENST00000435887.1_Silent_p.L395L Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory subunit 16A 395 plasma membrane protein binding NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GCGCAGAGCTCAGGCCGCCGC 0.736000 4 10 0 0 1 0 0 GALNT3 2591 broad.mit.edu 37 2 166626873 166626873 + Missense_Mutation SNP C C T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr2:166626873C>T ENST00000392701.3 - 2 1113 c.338G>A c.(337-339)cGt>cAt p.R113H NM_004482.3 NP_004473.2 Q14435 GALT3_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) 113 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 CTGAGGTGGACGGTCAAGGAC 0.448000 8 83 0 0 1 0 0 LY6K 54742 broad.mit.edu 37 8 143781999 143781999 + Silent SNP C C T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr8:143781999C>T ENST00000522591.1 + 1 110 c.54C>T c.(52-54)gaC>gaT p.D18D LY6K_ENST00000292430.6_Silent_p.D18D|LY6K_ENST00000561179.1_Silent_p.D76D|LY6K_ENST00000518841.1_Silent_p.D18D|LY6K_ENST00000519387.1_Silent_p.D18D Q17RY6 LY6K_HUMAN lymphocyte antigen 6 complex, locus K 18 anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4) 10 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TGTGGACAGACGCCAACCTGA 0.721000 5 9 0 0 1 0 0 NPR2 4882 broad.mit.edu 37 9 35800721 35800721 + Missense_Mutation SNP T T G TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr9:35800721T>G ENST00000342694.2 + 6 1489 c.1234T>G c.(1234-1236)Tcg>Gcg p.S412A NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 412 intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) AGCCCACTACTCGGGAGCTGA 0.617000 7 18 0 0 1 0 0 RPP30 10556 broad.mit.edu 37 10 92660334 92660334 + Silent SNP A A G TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr10:92660334A>G ENST00000413330.1 + 11 740 c.705A>G c.(703-705)agA>agG p.R235R RPP30_ENST00000489806.1_3'UTR|RPP30_ENST00000371703.3_Silent_p.R235R NM_001104546.1 NP_001098016.1 P78346 RPP30_HUMAN ribonuclease P/MRP 30kDa subunit 235 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 8 CAGAAACTAGAAAAACTGCTT 0.388000 41 88 0 0 1 0 0 DNM1L 10059 broad.mit.edu 37 12 32886660 32886660 + Missense_Mutation SNP A A T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr12:32886660A>T ENST00000452533.2 + 13 1622 c.1458A>T c.(1456-1458)ttA>ttT p.L486F DNM1L_ENST00000547312.1_Missense_Mutation_p.L486F|DNM1L_ENST00000414834.2_Missense_Mutation_p.L283F|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000381000.4_Missense_Mutation_p.L499F|DNM1L_ENST00000358214.5_Missense_Mutation_p.L499F|DNM1L_ENST00000266481.6_Missense_Mutation_p.L486F|DNM1L_ENST00000553257.1_Missense_Mutation_p.L499F|DNM1L_ENST00000549701.1_Missense_Mutation_p.L486F NM_012062.3|NM_012063.2 NP_036192.2|NP_036193.2 O00429 DNM1L_HUMAN dynamin 1-like 486 Interaction with GSK3B.|Middle domain. cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 23 Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TCCATAACTTAGTGGCAATTG 0.289000 17 169 0 0 1 0 0 DBF4B 80174 broad.mit.edu 37 17 42828594 42828594 + Silent SNP C C T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr17:42828594C>T ENST00000315005.3 + 14 1959 c.1821C>T c.(1819-1821)tgC>tgT p.C607C DBF4B_ENST00000393547.2_Intron NM_145663.2 NP_663696.1 Q8NFT6 DBF4B_HUMAN DBF4 homolog B (S. cerevisiae) 607 cell cycle nucleus nucleic acid binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5) 7 Prostate(33;0.0322) TTCTCCATTGCGGCTTCCTGG 0.542000 5 46 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74274785 74274785 + Missense_Mutation SNP A A C TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr2:74274785A>C ENST00000409262.3 + 1 1336 c.1336A>C c.(1336-1338)Aag>Cag p.K446Q NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 446 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GAAGAAGAAGAAGCTCCCAAC 0.597000 5 11 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2381056 2381056 + Missense_Mutation SNP C C T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr20:2381056C>T ENST00000202625.2 + 7 1016 c.955C>T c.(955-957)Cgg>Tgg p.R319W TGM6_ENST00000381423.1_Missense_Mutation_p.R319W|TGM6_ENST00000477505.1_3'UTR NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 319 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) CTCCTTCGGGCGGACCCTGGA 0.617000 6 48 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47161880 47161880 + Nonsense_Mutation SNP C C A TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr3:47161880C>A ENST00000409792.3 - 3 4288 c.4246G>T c.(4246-4248)Gaa>Taa p.E1416* NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 1416 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CCATCACTTTCAGAATCACTC 0.423000 """N, F, S, Mis""" clear cell renal carcinoma 16 36 1.15088e-07 1.25363e-07 1 1 0 NT5DC3 51559 broad.mit.edu 37 12 104186976 104186976 + Missense_Mutation SNP C C T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr12:104186976C>T ENST00000392876.3 - 9 1025 c.985G>A c.(985-987)Gct>Act p.A329T NM_001031701.2 NP_001026871.1 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 329 hydrolase activity|metal ion binding NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2) 30 GGCTTCTCAGCCTGAACAATG 0.428000 59 122 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) 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) ggaaggggaaaaaaagaaggg 0.413000 3 71 0 0 1 0 0 FOXA1 3169 broad.mit.edu 37 14 38061191 38061191 + Missense_Mutation SNP G G T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr14:38061191G>T ENST00000250448.2 - 2 859 c.798C>A c.(796-798)ttC>ttA p.F266L FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.F233L NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 266 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) TCTCGCACTTGAAGCGCTTCT 0.726000 3 8 0.115264 0.119171 1 1 0 RPN2 6185 broad.mit.edu 37 20 35833198 35833198 + Missense_Mutation SNP G G A TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr20:35833198G>A ENST00000237530.6 + 6 895 c.584G>A c.(583-585)gGg>gAg p.G195E RPN2_ENST00000373622.5_Missense_Mutation_p.G163E NM_002951.3 NP_002942.2 P04844 RPN2_HUMAN ribophorin II 195 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1) 24 Myeloproliferative disorder(115;0.00878) GATGAACTCGGGGGCGTGTAT 0.483000 6 111 0 0 1 0 0 IL22RA2 0 broad.mit.edu 37 6 137476210 137476210 + Missense_Mutation SNP G G T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr6:137476210G>T ENST00000296980.2 - 5 640 c.340C>A c.(340-342)Caa>Aaa p.Q114K IL22RA2_ENST00000349184.4_Missense_Mutation_p.Q82K|IL22RA2_ENST00000339602.3_Missense_Mutation_p.Q82K NM_052962.2 NP_443194.1 Q969J5 I22R2_HUMAN interleukin 22 receptor, alpha 2 114 Fibronectin type-III 2. regulation of tyrosine phosphorylation of Stat3 protein extracellular space interleukin-22 receptor activity endometrium(1)|large_intestine(1)|lung(3) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407) GAGAGTTCTTGAGTACCCCAA 0.473000 32 86 2.47316e-13 2.84646e-13 1 1 0 OR10AG1 282770 broad.mit.edu 37 11 55735784 55735784 + Missense_Mutation SNP A A C TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr11:55735784A>C ENST00000312345.2 - 1 206 c.156T>G c.(154-156)ttT>ttG p.F52L NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) TGCTAAGAAAAAAATACATGG 0.323000 19 37 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106810741 106810741 + Missense_Mutation SNP C C G TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr11:106810741C>G ENST00000526355.1 - 4 1119 c.651G>C c.(649-651)caG>caC p.Q217H GUCY1A2_ENST00000347596.2_Missense_Mutation_p.Q217H|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.Q217H NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 217 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CCAGAGTGGCCTGTTTTCCAA 0.463000 16 49 0 0 1 0 0 GPANK1 7918 broad.mit.edu 37 6 31630284 31630284 + Missense_Mutation SNP C C T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr6:31630284C>T ENST00000375906.1 - 4 1514 c.830G>A c.(829-831)cGg>cAg p.R277Q GPANK1_ENST00000375900.4_Missense_Mutation_p.R277Q|GPANK1_ENST00000375896.4_Missense_Mutation_p.R277Q|GPANK1_ENST00000375895.2_Missense_Mutation_p.R277Q|GPANK1_ENST00000375893.2_Missense_Mutation_p.R277Q NM_001199237.1 NP_001186166.1 O95872 GPAN1_HUMAN G patch domain and ankyrin repeats 1 277 G-patch. intracellular nucleic acid binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7) 12 GCCCTCACCCCGGGGTCCCAG 0.647000 11 17 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5239847 5239847 + Missense_Mutation SNP G G C TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr5:5239847G>C ENST00000274181.7 + 16 2470 c.2332G>C c.(2332-2334)Gaa>Caa p.E778Q NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 778 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 CCGCATCTATGAAATGAACGT 0.483000 5 104 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91133932 91133932 + Missense_Mutation SNP G G A TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chrX:91133932G>A ENST00000373094.1 + 2 3538 c.2693G>A c.(2692-2694)aGt>aAt p.S898N PCDH11X_ENST00000361655.2_Missense_Mutation_p.S898N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.S898N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S898N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.S898N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S898N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S898N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S898N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S898N NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 898 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 GATGTTGACAGTGATGGAAAC 0.378000 21 20 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11190607 11190607 + Silent SNP C C T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr1:11190607C>T ENST00000361445.4 - 39 5668 c.5592G>A c.(5590-5592)ccG>ccA p.P1864P MTOR_ENST00000376838.1_Silent_p.P69P NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 1864 FAT. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 TCTTCTGCAGCGGCGATGGGG 0.582000 3 31 0 0 1 0 0 LCOR 84458 broad.mit.edu 37 10 98711871 98711871 + Missense_Mutation SNP G G C TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr10:98711871G>C ENST00000540664.1 + 7 793 c.250G>C c.(250-252)Gat>Cat p.D84H LCOR_ENST00000371103.3_Missense_Mutation_p.D84H|LCOR_ENST00000498444.1_3'UTR|LCOR_ENST00000356016.3_Missense_Mutation_p.D84H|LCOR_ENST00000371097.4_Missense_Mutation_p.D84H NM_001170765.1|NM_001170766.1 NP_001164236.1|NP_001164237.1 ligand dependent nuclear receptor corepressor endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1) 13 Colorectal(252;0.162) Epithelial(162;4.43e-09)|all cancers(201;2.96e-07) CGGTGTACTTGATCTGTCCAC 0.438000 10 29 0 0 1 0 0 LRRC2 79442 broad.mit.edu 37 3 46586569 46586569 + Silent SNP C C T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr3:46586569C>T ENST00000395905.3 - 3 692 c.300G>A c.(298-300)gcG>gcA p.A100A LRRC2_ENST00000296144.3_Silent_p.A100A NM_024512.4 NP_078788.2 Q9BYS8 LRRC2_HUMAN leucine rich repeat containing 2 100 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 17 Ovarian(412;0.0563) OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254) CAAACACAAACGCACTGCTCC 0.552000 5 208 0 0 1 0 0 PTPRK 5796 broad.mit.edu 37 6 128306873 128306873 + Missense_Mutation SNP G G C TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr6:128306873G>C ENST00000368227.3 - 23 3661 c.3295C>G c.(3295-3297)Cat>Gat p.H1099D PTPRK_ENST00000368215.3_Missense_Mutation_p.H1081D|PTPRK_ENST00000368207.3_Missense_Mutation_p.H1114D|PTPRK_ENST00000368210.3_Missense_Mutation_p.H1100D|PTPRK_ENST00000368226.4_Missense_Mutation_p.H1082D|PTPRK_ENST00000368213.5_Missense_Mutation_p.H1088D|PTPRK_ENST00000532331.1_Missense_Mutation_p.H1104D Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1081 Tyrosine-protein phosphatase 1. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TACCTGCAATGTACAACGATG 0.473000 10 20 0 0 1 0 0 SHC3 53358 broad.mit.edu 37 9 91657077 91657077 + Silent SNP C C T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr9:91657077C>T ENST00000375835.4 - 10 1530 c.1224G>A c.(1222-1224)acG>acA p.T408T SHC3_ENST00000375830.1_5'UTR NM_016848.5 NP_058544.3 Q92529 SHC3_HUMAN SHC (Src homology 2 domain containing) transforming protein 3 408 CH1. central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 TCCCTTCTGGCGTGCTGTAGA 0.572000 19 64 0 0 1 0 0 PELI1 57162 broad.mit.edu 37 2 64323320 64323320 + Missense_Mutation SNP G G A TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr2:64323320G>A ENST00000358912.4 - 6 1071 c.629C>T c.(628-630)tCg>tTg p.S210L NM_020651.3 NP_065702.2 Q96FA3 PELI1_HUMAN pellino E3 ubiquitin protein ligase 1 210 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 19 TCCACACACCGATATTTCTCT 0.418000 25 76 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414373 20414373 + Silent SNP G G A TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr9:20414373G>A ENST00000380338.4 - 5 757 c.471C>T c.(469-471)agC>agT p.S157S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S154S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 157 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S157S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.527000 T MLL ALL 4 53 0 0 1 0 0 PPP4R4 57718 broad.mit.edu 37 14 94674828 94674828 + Missense_Mutation SNP T T G TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr14:94674828T>G ENST00000304338.3 + 3 373 c.219T>G c.(217-219)agT>agG p.S73R PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000328839.3_Missense_Mutation_p.S73R NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 73 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 AAGGAACAAGTGTGATTGCAA 0.368000 4 17 0 0 1 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75561146 75561146 + Missense_Mutation SNP C C T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr10:75561146C>T ENST00000604729.1 + 26 5671 c.5374C>T c.(5374-5376)Cgc>Tgc p.R1792C ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R1613C|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R1754C|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.R1795C|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R1800C|NDST2_ENST00000456638.1_5'UTR zinc finger, SWIM-type containing 8 CCGGAGTGCCCGCAGCGCCTT 0.582000 3 43 0 0 1 0 0 HIST2H2AC 8338 broad.mit.edu 37 1 149858550 149858550 + Missense_Mutation SNP G G T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr1:149858550G>T ENST00000331380.2 + 1 26 c.26G>T c.(25-27)gGc>gTc p.G9V NM_003517.2 NP_003508.1 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 9 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1) 20 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) AAACAAGGAGGCAAGGCCCGC 0.567000 5 84 0.184627 0.184627 1 1 0 KAL1 3730 broad.mit.edu 37 X 8555966 8555966 + Nonsense_Mutation SNP G G A TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chrX:8555966G>A ENST00000262648.3 - 5 744 c.595C>T c.(595-597)Cag>Tag p.Q199* NM_000216.2 NP_000207.2 P23352 KALM_HUMAN Kallmann syndrome 1 sequence 199 Fibronectin type-III 1. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1) 32 ACCTCCAGCTGTCCAGACTGC 0.423000 12 5 0 0 1 0 0 SLC2A3 6515 broad.mit.edu 37 12 8083194 8083194 + Silent SNP C C T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr12:8083194C>T ENST00000075120.7 - 5 795 c.555G>A c.(553-555)ccG>ccA p.P185P NM_006931.2 NP_008862.1 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose transporter), member 3 185 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity p.P185P(1) central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) CCAGTAGCAGCGGCCATAGCT 0.443000 4 77 0 0 1 0 0 PTPLAD2 401494 broad.mit.edu 37 9 21026653 21026653 + Missense_Mutation SNP T T C TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr9:21026653T>C ENST00000495827.1 - 3 257 c.212A>G c.(211-213)gAa>gGa p.E71G PTPLAD2_ENST00000488436.1_5'UTR|PTPLAD2_ENST00000513293.2_Missense_Mutation_p.E71G NM_001010915.3 NP_001010915.2 Q5VWC8 HACD4_HUMAN protein tyrosine phosphatase-like A domain containing 2 71 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane lyase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10) GTGCAGCAGTTCCAGGAGAGA 0.378000 6 96 0 0 1 0 0 SHQ1 55164 broad.mit.edu 37 3 72873608 72873608 + Missense_Mutation SNP T T C TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr3:72873608T>C ENST00000325599.8 - 6 833 c.694A>G c.(694-696)Aag>Gag p.K232E SHQ1_ENST00000463369.1_Missense_Mutation_p.K204E NM_018130.2 NP_060600.2 Q6PI26 SHQ1_HUMAN SHQ1, H/ACA ribonucleoprotein assembly factor 232 ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) TCCTGACTCTTTTCCAAAAAG 0.353000 21 29 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43913641 43913641 + Splice_Site SNP C C T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr1:43913641C>T ENST00000562955.1 + 67 9391 c.9392_splice c.e67+1 p.R3131_splice SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Splice_Site_p.R2289_splice NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 3188 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 GCACGTTCTGCGGTCAGCAGA 0.582000 3 43 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120474878 120474878 + Missense_Mutation SNP G G T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr9:120474878G>T ENST00000355622.6 + 3 573 c.472G>T c.(472-474)Gct>Tct p.A158S TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.A118S NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 158 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 ACTTAATGTGGCTCACAATCT 0.373000 12 39 0.010729 0.011284 1 1 0 ZNF653 115950 broad.mit.edu 37 19 11596494 11596494 + Missense_Mutation SNP C C T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr19:11596494C>T ENST00000293771.5 - 7 1683 c.1547G>A c.(1546-1548)cGg>cAg p.R516Q CTC-398G3.6_ENST00000585656.1_Intron NM_138783.3 NP_620138.2 Q96CK0 ZN653_HUMAN zinc finger protein 653 516 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 17 CATGTGCCGCCGCAGGTGGTT 0.592000 5 53 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151165044 151165044 + Missense_Mutation SNP T T C TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr3:151165044T>C ENST00000282466.3 - 4 2724 c.2725A>G c.(2725-2727)Atg>Gtg p.M909V NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 909 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) CCTCTTCCCATCTGGTCAGAG 0.433000 9 177 0 0 1 0 0 OR7D2 162998 broad.mit.edu 37 19 9296635 9296635 + Missense_Mutation SNP T T A TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr19:9296635T>A ENST00000344248.2 + 1 357 c.178T>A c.(178-180)Tac>Aac p.Y60N NM_175883.2 NP_787079.1 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, member 2 60 regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 20 CACCCCCATGTACTTCTTCCT 0.537000 33 51 0 0 1 0 0 PVRL3 25945 broad.mit.edu 37 3 110845029 110845029 + Splice_Site SNP A A G TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr3:110845029A>G ENST00000485303.1 + 5 1192 c.e5-1 PVRL3_ENST00000493615.1_Splice_Site|PVRL3_ENST00000319792.3_Splice_Site NM_001243286.1|NM_015480.2 NP_001230215.1|NP_056295.1 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3) 19 TTTAAAATCTAGGTTGGATGG 0.294000 4 38 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152461140 152461140 + Missense_Mutation SNP C C T rs143049227 TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr6:152461140C>T ENST00000367255.5 - 140 26004 c.25403G>A c.(25402-25404)cGt>cAt p.R8468H SYNE1_ENST00000423061.1_Missense_Mutation_p.R8420H|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8468H|SYNE1_ENST00000354674.4_Missense_Mutation_p.R646H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8420H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R8080H|SYNE1_ENST00000539504.1_Missense_Mutation_p.R623H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2992H NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8468 R -> H (in a colorectal cancer sample; somatic mutation). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.R8468H(5) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GAGTTCCAGACGCTGGAGCTG 0.557000 HNSCC(10;0.0054) 11 54 0 0 1 0 0 VANGL2 57216 broad.mit.edu 37 1 160395042 160395042 + Silent SNP A A G TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr1:160395042A>G ENST00000368061.2 + 8 1914 c.1440A>G c.(1438-1440)ttA>ttG p.L480L NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 480 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane p.L480F(1) biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TTTTCCTCTTAAAACGCCAGG 0.527000 9 28 0 0 1 0 0 CDKN1B 1027 broad.mit.edu 37 12 12870888 12870888 + Nonsense_Mutation SNP G G T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr12:12870888G>T ENST00000228872.4 + 1 831 c.115G>T c.(115-117)Gaa>Taa p.E39* CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Nonsense_Mutation_p.E39* NM_004064.3 NP_004055.1 P46527 CDN1B_HUMAN cyclin-dependent kinase inhibitor 1B (p27, Kip1) 39 autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle cytosol|endosome|nucleoplasm cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity p.E39Q(1) breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5) 13 Prostate(47;0.0322)|all_epithelial(100;0.159) BRCA - Breast invasive adenocarcinoma(232;0.0336) GGTGGACCACGAAGAGTTAAC 0.602000 5 70 4.096e-09 4.54284e-09 1 1 0 GRM3 0 broad.mit.edu 37 7 86415592 86415592 + Missense_Mutation SNP C C T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr7:86415592C>T ENST00000361669.2 + 3 1583 c.484C>T c.(484-486)Cgg>Tgg p.R162W GRM3_ENST00000394720.2_Missense_Mutation_p.R160W|GRM3_ENST00000439827.1_Missense_Mutation_p.R162W|AC005009.2_ENST00000452471.1_RNA|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.R34W NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 162 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AAACCTGCTGCGGCTCTTCCA 0.517000 16 137 0 0 1 0 0 C6orf70 0 broad.mit.edu 37 6 170156863 170156863 + Missense_Mutation SNP C C G TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr6:170156863C>G ENST00000588451.1 + 5 601 c.88C>G c.(88-90)Ctt>Gtt p.L30V C6orf70_ENST00000392095.4_Missense_Mutation_p.L30V|C6orf70_ENST00000418781.3_Missense_Mutation_p.L156V|C6orf70_ENST00000366772.2_Missense_Mutation_p.L156V|C6orf70_ENST00000366773.3_Missense_Mutation_p.L156V Q5T6L9 CF070_HUMAN 156 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1) 20 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) AAGAGATCTGCTTTCATCTGA 0.358000 4 109 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169204662 169204662 + Missense_Mutation SNP T T C TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr4:169204662T>C ENST00000393743.3 - 13 1948 c.1657A>G c.(1657-1659)Atc>Gtc p.I553V NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 553 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) GTCACGATGATTTTCGAAGAG 0.348000 9 59 0 0 1 0 0 ZNF48 197407 broad.mit.edu 37 16 30410427 30410427 + Nonstop_Mutation SNP G G T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr16:30410427G>T ENST00000320159.2 + 2 2232 c.1856G>T c.(1855-1857)tGa>tTa p.*619L NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2 NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2 Q96MX3 ZNF48_HUMAN zinc finger protein 48 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1) 21 GGACTGGAATGACGCGGTCCA 0.642000 4 28 0.150653 0.153164 1 1 0 LSS 4047 broad.mit.edu 37 21 47641788 47641788 + Missense_Mutation SNP C C T rs142081800 TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr21:47641788C>T ENST00000397728.3 - 5 608 c.530G>A c.(529-531)cGg>cAg p.R177Q AP001469.5_ENST00000418029.1_RNA|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000457828.2_Missense_Mutation_p.R97Q|LSS_ENST00000522411.1_Missense_Mutation_p.R166Q|LSS_ENST00000356396.4_Missense_Mutation_p.R177Q NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 177 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) AAGAATGTTCCGGGCTCGTAC 0.517000 16 32 0 0 1 0 0 RPL10A 4736 broad.mit.edu 37 6 35437188 35437188 + Silent SNP T T A TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr6:35437188T>A ENST00000322203.6 + 4 219 c.192T>A c.(190-192)tcT>tcA p.S64S RPL10A_ENST00000467020.1_3'UTR NM_007104.4 NP_009035.3 P62906 RL10A_HUMAN ribosomal protein L10a 64 anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit RNA binding|structural constituent of ribosome breast(1)|large_intestine(2)|ovary(1) 4 CTAAGTTCTCTGTGTGTGTCC 0.572000 12 27 0 0 1 0 0 TPD52L1 0 broad.mit.edu 37 6 125584048 125584048 + Silent SNP C C G TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr6:125584048C>G ENST00000534000.1 + 7 851 c.555C>G c.(553-555)gcC>gcG p.A185A TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000368402.5_3'UTR|TPD52L1_ENST00000527711.1_Silent_p.A172A|TPD52L1_ENST00000532429.1_Silent_p.A156A|TPD52L1_ENST00000534199.1_3'UTR|TPD52L1_ENST00000368388.2_3'UTR|TPD52L1_ENST00000392482.2_3'UTR|TPD52L1_ENST00000528193.1_3'UTR|TPD52L1_ENST00000524679.1_3'UTR|TPD52L1_ENST00000304877.13_Silent_p.A190A NM_003287.2 NP_003278.1 Q16890 TPD53_HUMAN tumor protein D52-like 1 185 DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity perinuclear region of cytoplasm caspase activator activity|protein heterodimerization activity|protein homodimerization activity endometrium(2)|large_intestine(2)|prostate(1) 5 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0265) CGGCCCATGCCAGTGCCCAGA 0.577000 12 28 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656809 40656809 + Missense_Mutation SNP G G T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr2:40656809G>T ENST00000406785.1 - 2 801 c.612C>A c.(610-612)ttC>ttA p.F204L SLC8A1_ENST00000542756.1_Missense_Mutation_p.F204L|SLC8A1_ENST00000542024.1_Missense_Mutation_p.F204L|SLC8A1_ENST00000408028.2_Missense_Mutation_p.F204L|SLC8A1_ENST00000406391.2_Missense_Mutation_p.F204L|SLC8A1_ENST00000405901.3_Missense_Mutation_p.F204L|SLC8A1_ENST00000405269.1_Missense_Mutation_p.F204L|SLC8A1_ENST00000403092.1_Missense_Mutation_p.F204L|SLC8A1_ENST00000402441.1_Missense_Mutation_p.F204L|SLC8A1_ENST00000332839.4_Missense_Mutation_p.F204L P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 204 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CTGTCACAAAGAAGACACGCA 0.448000 13 23 6.72482e-11 7.59656e-11 1 1 0 NINL 22981 broad.mit.edu 37 20 25456887 25456887 + Missense_Mutation SNP C C A TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr20:25456887C>A ENST00000278886.6 - 17 3113 c.3040G>T c.(3040-3042)Gtg>Ttg p.V1014L NINL_ENST00000422516.1_Intron NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 1014 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 GCAACCTCCACACTGTGCTTG 0.687000 5 69 1.23904e-05 1.32599e-05 1 1 0 TMCC2 9911 broad.mit.edu 37 1 205197784 205197784 + Missense_Mutation SNP C C T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr1:205197784C>T ENST00000358024.3 + 1 481 c.92C>T c.(91-93)gCg>gTg p.A31V NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 31 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) CTGCCGGGCGCGGACCTCCGG 0.672000 5 38 0 0 1 0 0 RANGAP1 5905 broad.mit.edu 37 22 41650402 41650402 + Silent SNP C C T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr22:41650402C>T ENST00000455915.2 - 10 2639 c.1170G>A c.(1168-1170)gaG>gaA p.E390E RANGAP1_ENST00000407260.4_Silent_p.E335E|RANGAP1_ENST00000356244.3_Silent_p.E390E|RANGAP1_ENST00000405486.1_Silent_p.E390E P46060 RAGP1_HUMAN Ran GTPase activating protein 1 390 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity p.E390E(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 cctcctcctcctcttcttcct 0.562000 3 37 0 0 1 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12943195 12943195 + Silent SNP A A G TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr1:12943195A>G ENST00000235349.5 - 2 91 c.21T>C c.(19-21)acT>acC p.T7T NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 7 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTCTGGGTGGAGTCCAGATGC 0.562000 16 149 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34038130 34038130 + Missense_Mutation SNP G G A TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr1:34038130G>A ENST00000373381.4 - 50 7914 c.7738C>T c.(7738-7740)Cgc>Tgc p.R2580C NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2582 Sushi 15. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGGACATTGCGGTTGCTCCAT 0.592000 10 63 0 0 1 0 0 MIOS 54468 broad.mit.edu 37 7 7635987 7635987 + Missense_Mutation SNP T T A TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr7:7635987T>A ENST00000340080.4 + 11 2717 c.2296T>A c.(2296-2298)Tca>Aca p.S766T MIOS_ENST00000405785.1_Missense_Mutation_p.S766T NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 766 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TGTGAGTGGCTCACCAACGAA 0.463000 22 60 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656834 40656834 + Missense_Mutation SNP C C G TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr2:40656834C>G ENST00000406785.1 - 2 776 c.587G>C c.(586-588)aGg>aCg p.R196T SLC8A1_ENST00000542756.1_Missense_Mutation_p.R196T|SLC8A1_ENST00000542024.1_Missense_Mutation_p.R196T|SLC8A1_ENST00000408028.2_Missense_Mutation_p.R196T|SLC8A1_ENST00000406391.2_Missense_Mutation_p.R196T|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R196T|SLC8A1_ENST00000405269.1_Missense_Mutation_p.R196T|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R196T|SLC8A1_ENST00000402441.1_Missense_Mutation_p.R196T|SLC8A1_ENST00000332839.4_Missense_Mutation_p.R196T P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 196 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CTTAATCTTCCTTGTCTCTCC 0.463000 14 27 0 0 1 0 0 NAPSA 9476 broad.mit.edu 37 19 50862276 50862276 + Missense_Mutation SNP C C T TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr19:50862276C>T ENST00000253719.2 - 8 1235 c.1027G>A c.(1027-1029)Gtc>Atc p.V343I NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 343 proteolysis extracellular region aspartic-type endopeptidase activity p.V343I(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) ACCTGGATGACGTAATCATGG 0.557000 4 49 0 0 1 0 0 RP11-206L10.2 0 broad.mit.edu 37 1 700532 700532 + RNA DEL T T - TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr1:700532delT ENST00000428504.1 - 0 1021 NR_033908.1 aaaaaaaaaaTTCCTTTGGGA 0.453 2 4 --- --- --- --- ATP5F1 515 broad.mit.edu 37 1 111996955 111996955 + Frame_Shift_Del DEL T T - TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr1:111996955delT ENST00000369722.3 + 3 806 c.200delT c.(199-201)ctfs p.L67fs ATP5F1_ENST00000369721.4_Intron|ATP5F1_ENST00000483994.1_Intron NM_001688.4 NP_001679.2 P24539 AT5F1_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 67 ATP catabolic process|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 8 all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) TTCCAGTTTCTTTATCCTAAA 0.423 38 88 --- --- --- --- GON4L 54856 broad.mit.edu 37 1 155735616 155735617 + Frame_Shift_Ins INS - - G TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr1:155735616_155735617insG ENST00000437809.1 - 21 3769_3770 c.3647_3648insC c.(3646-3648)catfs p.H1216fs GON4L_ENST00000361040.5_Frame_Shift_Ins_p.H1216fs|GON4L_ENST00000271883.5_Frame_Shift_Ins_p.H1216fs|GON4L_ENST00000368331.1_Frame_Shift_Ins_p.H1216fs|GON4L_ENST00000471341.1_5'UTR Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 1216 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TGGATGGTATAGGAAGATTCAC 0.490 16 42 --- --- --- --- RFT1 91869 broad.mit.edu 37 3 53126551 53126551 + Frame_Shift_Del DEL A A - TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr3:53126551delA ENST00000296292.3 - 12 1353 c.1292delT c.(1291-1293)tcfs p.F431fs RFT1_ENST00000394738.3_Frame_Shift_Del_p.F392fs|RP11-894J14.5_ENST00000607203.1_Intron NM_052859.3 NP_443091.1 Q96AA3 RFT1_HUMAN RFT1 homolog (S. cerevisiae) 431 carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane lipid transporter activity NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) GGCCAAGATGAAGCCCACGCT 0.567 5 4 --- --- --- --- WBP4 11193 broad.mit.edu 37 13 41654831 41654831 + Frame_Shift_Del DEL A A - TCGA-V1-A9OQ-01A-11D-A41K-08 TCGA-V1-A9OQ-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5b85059c-7e9e-4d42-a942-12cd919eea93 286b7dd0-24eb-48eb-b0f0-f9171d52b85a g.chr13:41654831delA ENST00000379487.3 + 9 1206 c.806delA c.(805-807)gafs p.E269fs WBP4_ENST00000542082.1_Frame_Shift_Del_p.E248fs NM_007187.3 NP_009118.1 O75554 WBP4_HUMAN WW domain binding protein 4 269 nuclear mRNA cis splicing, via spliceosome nuclear speck|spliceosomal complex nucleic acid binding|proline-rich region binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1) 12 Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07) ACACAGAAAGAAAAAAGTATT 0.308 21 22 --- --- --- ---