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 NCS1 23413 broad.mit.edu 37 9 132988727 132988727 + Silent SNP C C T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr9:132988727C>T ENST00000372398.3 + 7 620 c.534C>T c.(532-534)tcC>tcT p.S178S NCS1_ENST00000458469.1_Silent_p.S160S NM_014286.3 NP_055101.2 P62166 NCS1_HUMAN neuronal calcium sensor 1 178 EF-hand 4.|Interaction with IL1RAPL1. S -> P (in Ref. 4; AAF01804). negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|protein binding large_intestine(1)|lung(4)|stomach(1) 6 CAGACCCGTCCATTGTGCAGG 0.652000 5 34 0 0 1 0 0 PCED1B 91523 broad.mit.edu 37 12 47629897 47629897 + Missense_Mutation SNP G G T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr12:47629897G>T ENST00000546455.1 + 4 1782 c.1051G>T c.(1051-1053)Gat>Tat p.D351Y PCED1B_ENST00000432328.1_Missense_Mutation_p.D351Y PC-esterase domain containing 1B TTTCCAGTCGGATCAATTCTA 0.527000 106 35 1.70349e-48 1.96713e-48 1 1 0 MAMDC2 256691 broad.mit.edu 37 9 72758597 72758597 + Missense_Mutation SNP A A T rs151044274 byFrequency TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr9:72758597A>T ENST00000377182.4 + 9 1883 c.1266A>T c.(1264-1266)ttA>ttT p.L422F MAMDC2-AS1_ENST00000591368.1_RNA NM_153267.4 NP_694999.3 Q7Z304 MAMC2_HUMAN MAM domain containing 2 422 MAM 3. endoplasmic reticulum|membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 14 ATGGATTTTTAAAAATGAGTG 0.458000 116 93 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36690235 36690235 + Missense_Mutation SNP C C G TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr22:36690235C>G ENST00000216181.5 - 28 3970 c.3740G>C c.(3739-3741)cGc>cCc p.R1247P NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1247 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CACTTTCTTGCGCTTGTGCTC 0.622000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 46 91 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46231438 46231438 + Silent SNP G G A rs146341546 byFrequency TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr12:46231438G>A ENST00000334344.6 + 10 1450 c.1278G>A c.(1276-1278)acG>acA p.T426T ARID2_ENST00000422737.1_Silent_p.T277T|ARID2_ENST00000444670.1_Silent_p.T55T|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 426 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) ACATGCTCACGGAAATGGGAG 0.378000 """N, S, F""" hepatocellular carcinoma 20 71 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1629785 1629785 + Missense_Mutation SNP C C T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr20:1629785C>T ENST00000381580.1 - 2 423 c.244G>A c.(244-246)Ggc>Agc p.G82S SIRPG_ENST00000216927.4_Missense_Mutation_p.G115S|SIRPG_ENST00000303415.3_Missense_Mutation_p.G115S|SIRPG_ENST00000344103.4_Missense_Mutation_p.G115S|SIRPG_ENST00000381583.2_Missense_Mutation_p.G115S Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 115 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 TAGTATGTGCCGACATCTGCT 0.493000 43 92 0 0 1 0 0 EEF2K 29904 broad.mit.edu 37 16 22268675 22268675 + Silent SNP G G A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr16:22268675G>A ENST00000263026.5 + 8 1344 c.870G>A c.(868-870)gaG>gaA p.E290E NM_013302.3 NP_037434.1 O00418 EF2K_HUMAN eukaryotic elongation factor-2 kinase 290 Alpha-type protein kinase. insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) TCCACACGGAGACGGGCACTG 0.547000 19 45 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577506 7577506 + Missense_Mutation SNP C C T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr17:7577506C>T ENST00000420246.2 - 7 907 c.775G>A c.(775-777)Gac>Aac p.D259N TP53_ENST00000359597.4_Missense_Mutation_p.D259N|TP53_ENST00000413465.2_Missense_Mutation_p.D259N|TP53_ENST00000269305.4_Missense_Mutation_p.D259N|TP53_ENST00000445888.2_Missense_Mutation_p.D259N|TP53_ENST00000455263.2_Missense_Mutation_p.D259N NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 259 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.D259Y(21)|p.0?(8)|p.D259N(6)|p.D259fs*5(3)|p.D259fs*86(3)|p.D259F(3)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)|p.D259H(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) GACCTGGAGTCTTCCAGTGTG 0.582000 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) 20 33 0 0 1 0 0 DDX41 51428 broad.mit.edu 37 5 176940689 176940689 + Silent SNP G G A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr5:176940689G>A ENST00000507955.1 - 10 1618 c.1095C>T c.(1093-1095)ttC>ttT p.F365F NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 365 Helicase ATP-binding. apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) GCGGCACCTTGAAGTAGGAGA 0.657000 37 75 0 0 1 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65350201 65350201 + Missense_Mutation SNP C C G TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr5:65350201C>G ENST00000284037.5 + 21 3444 c.3055C>G c.(3055-3057)Caa>Gaa p.Q1019E ERBB2IP_ENST00000506030.1_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.Q1015E|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000416865.2_Intron NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 1019 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) CACAGAAAATCAAAGTTATGC 0.408000 33 55 0 0 1 0 0 LTB4R2 56413 broad.mit.edu 37 14 24780618 24780618 + Missense_Mutation SNP G G A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr14:24780618G>A ENST00000528054.1 + 1 2458 c.841G>A c.(841-843)Gca>Aca p.A281T LTB4R2_ENST00000533293.1_Missense_Mutation_p.A250T|CIDEB_ENST00000258807.5_5'UTR|LTB4R2_ENST00000543919.1_Missense_Mutation_p.A250T|CIDEB_ENST00000555817.1_5'UTR Q9NPC1 LT4R2_HUMAN leukotriene B4 receptor 2 281 chemotaxis|negative regulation of adenylate cyclase activity integral to plasma membrane endometrium(1)|lung(1)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.018) GCAGGCGGTCGCAGCGCTGGC 0.711000 21 26 0 0 1 0 0 NAA30 122830 broad.mit.edu 37 14 57857978 57857978 + Silent SNP C C G TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr14:57857978C>G ENST00000556492.1 + 2 457 c.303C>G c.(301-303)ctC>ctG p.L101L NAA30_ENST00000555166.1_Intron|NAA30_ENST00000554703.1_Intron NM_001011713.2 NP_001011713.2 Q147X3 NAA30_HUMAN N(alpha)-acetyltransferase 30, NatC catalytic subunit 101 cytoplasm peptide alpha-N-acetyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 13 CCGCCTCCCTCAAGAGCAAGG 0.682000 13 25 0 0 1 0 0 ATRIP 84126 broad.mit.edu 37 3 48506419 48506419 + Missense_Mutation SNP G G A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr3:48506419G>A ENST00000412052.1 + 12 2428 c.1966G>A c.(1966-1968)Gac>Aac p.D656N ATRIP_ENST00000320211.3_Missense_Mutation_p.D749N|ATRIP_ENST00000357105.6_Missense_Mutation_p.D622N|ATRIP_ENST00000346691.4_Missense_Mutation_p.D722N NM_001271023.1 NP_001257952.1 Q8WXE1 ATRIP_HUMAN ATR interacting protein 749 DNA damage checkpoint|DNA repair|DNA replication nucleoplasm protein binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1) 22 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCATCAGTTTGACCAGGTGAT 0.612000 Other conserved DNA damage response genes 21 46 0 0 1 0 0 CASP8 841 broad.mit.edu 37 2 202150039 202150039 + Splice_Site SNP C C T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr2:202150039C>T ENST00000358485.4 + 8 1676 c.1481_splice c.e8+1 p.R494_splice CASP8_ENST00000264275.5_Splice_Site_p.R452_splice|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_Splice_Site_p.R351_splice|CASP8_ENST00000432109.2_Splice_Site_p.R435_splice|CASP8_ENST00000323492.7_Splice_Site_p.R420_splice NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 435 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding p.R452*(2)|p.R494*(1) breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 GCGATGTCCTCGGTAAGTTTT 0.502000 HNSCC(4;0.00038) 19 20 0 0 1 0 0 DOCK1 1793 broad.mit.edu 37 10 129209189 129209189 + Splice_Site SNP G G A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr10:129209189G>A ENST00000280333.6 + 43 4474 c.e43+1 NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) TGAATTTGCGGTAAAAAACAA 0.468000 4 33 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76814257 76814257 + Silent SNP A A G TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chrX:76814257A>G ENST00000373344.5 - 29 6601 c.6387T>C c.(6385-6387)gcT>gcC p.A2129A ATRX_ENST00000395603.3_Silent_p.A2091A|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2129 Helicase C-terminal. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTACTCGATTAGCAGCTACCA 0.328000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 82 34 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 534288 534288 + Missense_Mutation SNP C C A rs104894230 TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr11:534288C>A ENST00000417302.1 - 2 222 c.35G>T c.(34-36)gGc>gTc p.G12V HRAS_ENST00000397594.1_Missense_Mutation_p.G12V|HRAS_ENST00000397596.2_Missense_Mutation_p.G12V|HRAS_ENST00000311189.7_Missense_Mutation_p.G12V|HRAS_ENST00000451590.1_Missense_Mutation_p.G12V|HRAS_ENST00000468682.2_5'UTR NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 12 G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G12V(252)|p.G12D(48)|p.G12A(9) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GCCCACACCGCCGGCGCCCAC 0.647000 G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 43 28 1.41504e-22 1.49194e-22 1 1 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89100816 89100816 + RNA SNP A A G rs148138279 by1000genomes TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr2:89100816A>G ENST00000393525.3 + 0 1290 AGCAAGCAGAAAGAGAAGTAA 0.303000 3 45 0 0 1 0 0 DUSP22 56940 broad.mit.edu 37 6 348155 348155 + Missense_Mutation SNP G G A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr6:348155G>A ENST00000604971.1 + 3 1120 c.7G>A c.(7-9)Gtc>Atc p.V3I DUSP22_ENST00000605863.1_Missense_Mutation_p.V3I|DUSP22_ENST00000603453.1_Missense_Mutation_p.V3I|DUSP22_ENST00000605035.1_Missense_Mutation_p.V3I|DUSP22_ENST00000344450.5_Missense_Mutation_p.V106I|DUSP22_ENST00000419235.2_Missense_Mutation_p.V106I|DUSP22_ENST00000605315.1_Missense_Mutation_p.V3I Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 106 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.V106I(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) CATCATGACCGTCACTGACTT 0.602000 58 197 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10415238 10415238 + Missense_Mutation SNP C C T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr17:10415238C>T ENST00000226207.5 - 14 1428 c.1334G>A c.(1333-1335)cGc>cAc p.R445H CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 445 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.R445L(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CTGGTTGATGCGGGTGACCAT 0.463000 5 288 0 0 1 0 0 SLC6A17 388662 broad.mit.edu 37 1 110734821 110734821 + Silent SNP G G A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr1:110734821G>A ENST00000331565.4 + 7 1577 c.1092G>A c.(1090-1092)gaG>gaA p.E364E NM_001010898.2 NP_001010898.1 Q9H1V8 S6A17_HUMAN solute carrier family 6 (neutral amino acid transporter), member 17 364 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) TCATGAATGAGAAGTGTGTGG 0.582000 17 34 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56575364 56575364 + Silent SNP T T C TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr12:56575364T>C ENST00000394023.3 - 10 963 c.858A>G c.(856-858)tcA>tcG p.S286S SMARCC2_ENST00000267064.4_Silent_p.S286S|SMARCC2_ENST00000347471.4_Silent_p.S286S|SMARCC2_ENST00000550164.1_Silent_p.S286S|RP11-977G19.5_ENST00000553176.1_RNA NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 286 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) CCCGTCGATCTGAATCTGGGC 0.488000 5 155 0 0 1 0 0 ACCSL 390110 broad.mit.edu 37 11 44073268 44073268 + Splice_Site SNP C C T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr11:44073268C>T ENST00000378832.1 + 5 827 c.772_splice c.e5+1 p.G257_splice NM_001031854.2 NP_001027025.2 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 257 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2) 34 GTGATCCAGGCGGTAAGTCAG 0.512000 69 250 0 0 1 0 0 MMP3 4314 broad.mit.edu 37 11 102713001 102713001 + Missense_Mutation SNP T T G TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr11:102713001T>G ENST00000299855.5 - 4 765 c.509A>C c.(508-510)gAc>gCc p.D170A NM_002422.3 NP_002413.1 P08254 MMP3_HUMAN matrix metallopeptidase 3 (stromelysin 1, progelatinase) 170 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) AGGGTAAAAGTCTCCATGTTC 0.413000 15 50 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135405026 135405026 + Nonsense_Mutation SNP C C T rs148277760 TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chrX:135405026C>T ENST00000394143.1 + 5 451 c.160C>T c.(160-162)Cga>Tga p.R54* GPR112_ENST00000287534.4_5'UTR|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Nonsense_Mutation_p.R54*|GPR112_ENST00000394141.1_Intron NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 54 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.R54*(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TGAACTCAGCCGATTCACAGC 0.403000 47 15 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121028675 121028675 + Silent SNP C C T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr11:121028675C>T ENST00000392793.1 + 14 4702 c.4431C>T c.(4429-4431)cgC>cgT p.R1477R TECTA_ENST00000264037.2_Silent_p.R1477R O75443 TECTA_HUMAN tectorin alpha 1477 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) ACGGGGTGCGCGGCTGCTTCA 0.682000 17 45 0 0 1 0 0 IGHG3 3502 broad.mit.edu 37 14 106236252 106236252 + RNA SNP G G T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr14:106236252G>T ENST00000390551.2 - 0 551 TCAGGGGTCCGGGAAATCATA 0.577000 58 114 2.84144e-21 2.96365e-21 1 1 0 IGFN1 91156 broad.mit.edu 37 1 201196084 201196084 + Missense_Mutation SNP C C T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr1:201196084C>T ENST00000335211.4 + 23 10991 c.10861C>T c.(10861-10863)Cgg>Tgg p.R3621W IGFN1_ENST00000295591.8_3'UTR NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GGTGGGCCTGCGGTCCCACCT 0.667000 4 96 0 0 1 0 0 ZNHIT2 741 broad.mit.edu 37 11 64884964 64884964 + Silent SNP G G A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr11:64884964G>A ENST00000310597.4 - 1 206 c.162C>T c.(160-162)ctC>ctT p.L54L NM_014205.2 NP_055020.1 Q9UHR6 ZNHI2_HUMAN zinc finger, HIT-type containing 2 54 metal ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 TGCAACCGCGGAGCTCTCCCA 0.672000 4 6 0 0 1 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378801 31378801 + Missense_Mutation SNP G G T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr7:31378801G>T ENST00000297142.3 - 2 404 c.82C>A c.(82-84)Cag>Aag p.Q28K NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 28 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 ATTTGCTTCTGGTCCTCGCAT 0.413000 52 92 1.32667e-27 1.42986e-27 1 1 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 3 7 0 0 1 0 0 FKBP15 23307 broad.mit.edu 37 9 115941031 115941031 + Silent SNP C C A rs141462079 by1000genomes TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr9:115941031C>A ENST00000238256.3 - 20 2082 c.1965G>T c.(1963-1965)ctG>ctT p.L655L NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 655 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 TTTTCAGCTGCAGATGAGAGA 0.478000 7 16 0.27861 0.281513 1 1 0 OR10G8 219869 broad.mit.edu 37 11 123901133 123901133 + Silent SNP T T C TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr11:123901133T>C ENST00000431524.1 + 1 837 c.804T>C c.(802-804)gaT>gaC p.D268D NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) AAGCTGTGGATGGAGTTGTGG 0.527000 64 92 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 147985764 147985764 + Missense_Mutation SNP C C A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chrX:147985764C>A ENST00000370460.2 + 9 1852 c.1373C>A c.(1372-1374)gCa>gAa p.A458E AFF2_ENST00000370458.1_Missense_Mutation_p.A419E|AFF2_ENST00000342251.3_Missense_Mutation_p.A425E|AFF2_ENST00000370457.5_Missense_Mutation_p.A425E|AFF2_ENST00000286437.5_Missense_Mutation_p.A99E NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 458 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GTTGAAAAGGCAAAACCTAGG 0.294000 66 27 4.83677e-39 5.51961e-39 1 1 0 RCOR1 23186 broad.mit.edu 37 14 103174893 103174893 + Missense_Mutation SNP G G A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr14:103174893G>A ENST00000262241.6 + 6 978 c.752G>A c.(751-753)cGg>cAg p.R251Q RCOR1_ENST00000570597.1_Missense_Mutation_p.R248Q NM_015156.3 NP_055971.2 Q9UKL0 RCOR1_HUMAN REST corepressor 1 248 Interaction with HDAC1. blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 12 CGCCATGCCCGGAAACAAAAA 0.463000 6 300 0 0 1 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140307492 140307492 + Missense_Mutation SNP G G A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr5:140307492G>A ENST00000253807.2 + 1 1015 c.1015G>A c.(1015-1017)Gaa>Aaa p.E339K PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E339K|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron NM_018898.3 NP_061721.2 p.E339K(1) NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCATGCCCCCGAACTGGACTT 0.522000 59 121 0 0 1 0 0 TMTC4 84899 broad.mit.edu 37 13 101257365 101257365 + Silent SNP G G A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr13:101257365G>A ENST00000342624.5 - 19 2424 c.2166C>T c.(2164-2166)gaC>gaT p.D722D TMTC4_ENST00000376234.3_Silent_p.D703D|TMTC4_ENST00000328767.5_Silent_p.D592D NM_032813.2 NP_116202.2 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat containing 4 703 integral to membrane binding breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TCTTGGCCAAGTCTAGATGTC 0.458000 52 93 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 92998376 92998376 + Missense_Mutation SNP C C T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr8:92998376C>T ENST00000523629.1 - 9 1709 c.1255G>A c.(1255-1257)Gtc>Atc p.V419I RUNX1T1_ENST00000265814.3_Missense_Mutation_p.V419I|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.V392I|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.V382I|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.V382I|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.V430I|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.V392I|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.V382I NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 419 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.V419I(1)|p.V382I(1)|p.V430I(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TCTGGGTTGACGGGACTCTGC 0.453000 59 102 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105411705 105411705 + Silent SNP A A G TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr14:105411705A>G ENST00000333244.5 - 7 10202 c.10083T>C c.(10081-10083)ccT>ccC p.P3361P AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3361 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGTCCACAGAAGGGAGCTGAA 0.672000 151 192 0 0 1 0 0 DAW1 164781 broad.mit.edu 37 2 228769656 228769656 + Silent SNP C C T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr2:228769656C>T ENST00000373666.2 + 8 1296 c.660C>T c.(658-660)gcC>gcT p.A220A DAW1_ENST00000545118.1_Silent_p.A205A|DAW1_ENST00000309931.2_Silent_p.A220A dynein assembly factor with WDR repeat domains 1 GACATTCTGCCGAAATCATCT 0.413000 48 85 0 0 1 0 0 PTCHD4 442213 broad.mit.edu 37 6 47976630 47976630 + Missense_Mutation SNP G G C TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr6:47976630G>C ENST00000543600.1 - 2 635 c.596C>G c.(595-597)tCt>tGt p.S199C PTCHD4_ENST00000339488.4_Missense_Mutation_p.S216C Q6ZW05 CF138_HUMAN patched domain containing 4 216 integral to membrane hedgehog receptor activity GGATGCTAAAGAGTAGAGCTG 0.532000 24 36 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128956418 128956418 + Missense_Mutation SNP G G A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr5:128956418G>A ENST00000274487.4 + 9 1713 c.1568G>A c.(1567-1569)cGa>cAa p.R523Q CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 523 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.R523Q(1) NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TCATGGTCTCGATGTAGCAAG 0.388000 36 143 0 0 1 0 0 CLCNKA 1187 broad.mit.edu 37 1 16357047 16357047 + Silent SNP C C T rs143389794 TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr1:16357047C>T ENST00000375692.1 + 16 1628 c.1500C>T c.(1498-1500)ccC>ccT p.P500P CLCNKA_ENST00000420078.1_Silent_p.P500P|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Silent_p.P457P|CLCNKA_ENST00000331433.4_Silent_p.P500P P51800 CLCKA_HUMAN chloride channel, voltage-sensitive Ka 500 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) ATGCACTGCCCGTGCTGATGG 0.627000 28 80 0 0 1 0 0 OR8B3 390271 broad.mit.edu 37 11 124266319 124266319 + Missense_Mutation SNP C C G TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr11:124266319C>G ENST00000354597.3 - 1 945 c.929G>C c.(928-930)aGa>aCa p.R310T NM_001005467.1 NP_001005467.1 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, member 3 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GAATATATTTCTTCTCTGAAT 0.328000 40 50 0 0 1 0 0 DYRK1A 1859 broad.mit.edu 37 21 38853118 38853118 + Missense_Mutation SNP C C T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr21:38853118C>T ENST00000339659.3 + 4 1949 c.479C>T c.(478-480)tCc>tTc p.S160F DYRK1A_ENST00000451934.1_Missense_Mutation_p.S169F|DYRK1A_ENST00000338785.3_Missense_Mutation_p.S169F|DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.S169F|DYRK1A_ENST00000398956.2_Missense_Mutation_p.S169F|DYRK1A_ENST00000321219.8_Missense_Mutation_p.S169F NM_130436.2 NP_569120.1 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 169 Protein kinase. nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 GGCAAAGGTTCCTTTGGACAG 0.338000 12 18 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141641418 141641418 + Missense_Mutation SNP G G T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr2:141641418G>T ENST00000389484.3 - 25 5108 c.4137C>A c.(4135-4137)caC>caA p.H1379Q NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1379 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGGCCCTGGGGTGTTCCATGG 0.398000 TSP Lung(27;0.18) 55 88 1.93748e-29 2.16018e-29 1 1 0 CCDC8 83987 broad.mit.edu 37 19 46914994 46914994 + Silent SNP G G A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr19:46914994G>A ENST00000307522.3 - 1 1847 c.1074C>T c.(1072-1074)aaC>aaT p.N358N NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 358 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) CTTCCCTCTGGTTATCTGCAG 0.587000 4 115 0 0 1 0 0 XPO4 64328 broad.mit.edu 37 13 21382702 21382702 + Silent SNP T T C TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr13:21382702T>C ENST00000400602.2 - 12 1547 c.1512A>G c.(1510-1512)gtA>gtG p.V504V XPO4_ENST00000255305.6_Silent_p.V504V NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 504 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) GGAGTCTTGTTACTCTTTCTT 0.358000 16 27 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7763677 7763677 + Silent SNP G G A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr10:7763677G>A ENST00000358415.4 + 8 970 c.804G>A c.(802-804)gcG>gcA p.A268A ITIH2_ENST00000379587.4_Silent_p.A257A NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 268 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GGGAGACTGCGGTAGATGGGG 0.557000 43 31 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18882803 18882803 + Splice_Site SNP T T A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr16:18882803T>A ENST00000446231.2 - 16 2597 c.2183_splice c.e16-1 p.K729_splice SMG1_ENST00000389467.3_Splice_Site_p.K729_splice Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 729 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 ATTAACAGTTTCCTGAAACAC 0.328000 13 11 0 0 1 0 0 HTR1E 3354 broad.mit.edu 37 6 87726087 87726087 + Silent SNP G G A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr6:87726087G>A ENST00000305344.4 + 2 1738 c.1035G>A c.(1033-1035)acG>acA p.T345T HTR1E_ENST00000369584.1_Silent_p.T345T NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 345 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TGCTCTATACGAGTTTTAATG 0.443000 40 79 0 0 1 0 0 RNASE2 6036 broad.mit.edu 37 14 21424307 21424307 + Missense_Mutation SNP C C T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr14:21424307C>T ENST00000304625.2 + 2 467 c.377C>T c.(376-378)gCg>gTg p.A126V NM_002934.2 NP_002925.1 P10153 RNAS2_HUMAN ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) 126 chemotaxis|RNA catabolic process extracellular region|lysosome nucleic acid binding|pancreatic ribonuclease activity p.A126E(1) breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 17 all_cancers(95;0.00381) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) TGCAGGTATGCGCAGACACCA 0.458000 40 77 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79372955 79372955 + Missense_Mutation SNP G G A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr4:79372955G>A ENST00000264895.6 + 46 6933 c.6493G>A c.(6493-6495)Gaa>Aaa p.E2165K NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2164 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TGGAACAGGAGAACCTGGAGG 0.388000 9 20 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70594470 70594470 + Silent SNP G G A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr8:70594470G>A ENST00000260126.3 - 7 2437 c.1731C>T c.(1729-1731)taC>taT p.Y577Y SLCO5A1_ENST00000524945.1_Silent_p.Y577Y|SLCO5A1_ENST00000530307.1_Silent_p.Y522Y NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 577 Kazal-like. integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) AAGGGTTAAAGTATGTAATTC 0.433000 50 74 0 0 1 0 0 SYT15 83849 broad.mit.edu 37 10 46969272 46969272 + Silent SNP C C G rs145402665 by1000genomes TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr10:46969272C>G ENST00000374325.3 - 2 341 c.189G>C c.(187-189)ccG>ccC p.P63P SYT15_ENST00000374323.3_Intron|SYT15_ENST00000374321.4_Silent_p.P63P|SYT15_ENST00000503753.1_Silent_p.P63P NM_181519.2 NP_852660.1 Q9BQS2 SYT15_HUMAN synaptotagmin XV 63 integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 TCCTAGCATGCGGCTGGCAGG 0.617000 11 63 0 0 1 0 0 NME7 29922 broad.mit.edu 37 1 169256566 169256566 + Silent SNP A A G TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr1:169256566A>G ENST00000367811.3 - 7 985 c.729T>C c.(727-729)atT>atC p.I243I NME7_ENST00000472647.1_Silent_p.I207I|NME7_ENST00000469474.1_5'UTR NM_013330.3 NP_037462.1 Q9Y5B8 NDK7_HUMAN NME/NM23 family member 7 243 CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process centrosome ATP binding|metal ion binding|nucleoside diphosphate kinase activity central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1) 16 all_hematologic(923;0.208) GGGGTTTAACAATGCAACAGG 0.358000 107 180 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577090 7577090 + Missense_Mutation SNP C C G TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr17:7577090C>G ENST00000420246.2 - 8 980 c.848G>C c.(847-849)cGc>cCc p.R283P TP53_ENST00000359597.4_Missense_Mutation_p.R283P|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R283P|TP53_ENST00000445888.2_Missense_Mutation_p.R283P|TP53_ENST00000455263.2_Missense_Mutation_p.R283P NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 283 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(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) TTCCTCTGTGCGCCGGTCTCT 0.562000 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) 26 28 0 0 1 0 0 CRTAC1 55118 broad.mit.edu 37 10 99696030 99696030 + Silent SNP C C T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr10:99696030C>T ENST00000370597.3 - 3 673 c.318G>A c.(316-318)gcG>gcA p.A106A CRTAC1_ENST00000298819.4_Silent_p.A106A|CRTAC1_ENST00000370591.2_Silent_p.A106A NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 106 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) GGTCCCGCAGCGCGTAGTAGG 0.617000 14 69 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70585279 70585279 + Missense_Mutation SNP C C T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr8:70585279C>T ENST00000260126.3 - 10 3078 c.2372G>A c.(2371-2373)cGg>cAg p.R791Q SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R736Q NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 791 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) AGATCTAGTCCGGGCATTGTC 0.572000 32 55 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 534289 534289 + Missense_Mutation SNP C C A rs104894229 TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr11:534289C>A ENST00000417302.1 - 2 221 c.34G>T c.(34-36)Ggc>Tgc p.G12C HRAS_ENST00000397594.1_Missense_Mutation_p.G12C|HRAS_ENST00000397596.2_Missense_Mutation_p.G12C|HRAS_ENST00000311189.7_Missense_Mutation_p.G12C|HRAS_ENST00000451590.1_Missense_Mutation_p.G12C|HRAS_ENST00000468682.2_5'UTR NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 12 G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G12S(58)|p.G12C(25)|p.G12R(12) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CCCACACCGCCGGCGCCCACC 0.647000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 44 27 4.18559e-23 4.46156e-23 1 1 0 MYRIP 25924 broad.mit.edu 37 3 40231844 40231844 + Missense_Mutation SNP A A G TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr3:40231844A>G ENST00000302541.6 + 10 1897 c.1555A>G c.(1555-1557)Acc>Gcc p.T519A MYRIP_ENST00000425621.1_Missense_Mutation_p.T519A|MYRIP_ENST00000539167.1_Missense_Mutation_p.T332A|MYRIP_ENST00000444716.1_Missense_Mutation_p.T519A|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Missense_Mutation_p.T430A NM_015460.2 NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 519 Actin-binding.|Myosin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) GGCCCCCCACACCACAGACCG 0.637000 35 49 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55653083 55653083 + Missense_Mutation SNP G G A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr11:55653083G>A ENST00000449290.2 + 2 271 c.179G>A c.(178-180)cGg>cAg p.R60Q NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 60 intracellular zinc ion binding AAGACAACGCGGCAGAGAAAC 0.493000 8 14 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86394749 86394749 + Missense_Mutation SNP G G C TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr7:86394749G>C ENST00000361669.2 + 2 1387 c.288G>C c.(286-288)ttG>ttC p.L96F GRM3_ENST00000394720.2_Missense_Mutation_p.L94F|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.L96F|GRM3_ENST00000546348.1_Intron NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 96 L -> F (in Ref. 3; AAH41407). 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) TTCACATTTTGGATACATGTT 0.428000 75 130 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79203976 79203976 + Missense_Mutation SNP G G T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr4:79203976G>T ENST00000264895.6 + 12 1550 c.1110G>T c.(1108-1110)gaG>gaT p.E370D FRAS1_ENST00000325942.6_Missense_Mutation_p.E370D|FRAS1_ENST00000264899.6_Missense_Mutation_p.E370D NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 370 VWFC 6. cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TTGCGTAGGAGGGAGAGAAGT 0.498000 32 61 1.59932e-28 1.74308e-28 1 1 0 LINC00969 440993 broad.mit.edu 37 3 195410627 195410627 + RNA SNP A A G rs6583272 by1000genomes TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr3:195410627A>G ENST00000445430.1 + 0 1824 CCTCAGGTGCAGATTGATGAG 0.473000 3 12 0 0 1 0 0 OXSM 54995 broad.mit.edu 37 3 25833227 25833227 + Missense_Mutation SNP G G T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr3:25833227G>T ENST00000280701.3 + 2 815 c.716G>T c.(715-717)tGt>tTt p.C239F OXSM_ENST00000449808.1_Intron|OXSM_ENST00000420173.2_Intron NM_017897.2 NP_060367.1 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial 239 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 ACAGATTCTTGTATTAGCCCT 0.488000 38 85 1.5731e-28 1.73399e-28 1 1 0 IAH1 285148 broad.mit.edu 37 2 9616151 9616151 + Silent SNP G G A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr2:9616151G>A ENST00000497473.1 + 2 154 c.117G>A c.(115-117)ctG>ctA p.L39L IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000482918.1_5'UTR|IAH1_ENST00000545602.1_Intron|IAH1_ENST00000470914.1_Intron NM_001039613.1 NP_001034702.1 Q2TAA2 IAH1_HUMAN isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae) 39 lipid catabolic process hydrolase activity, acting on ester bonds breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GAGCATCGCTGGCTGACAGGC 0.478000 24 34 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73067831 73067831 + RNA SNP C C T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chrX:73067831C>T ENST00000429829.1 - 0 4757 NR_001564.2 GTGCAAAGGTCTTGACTAGAG 0.423000 33 9 0 0 1 0 0 JMY 133746 broad.mit.edu 37 5 78602238 78602238 + Missense_Mutation SNP G G A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr5:78602238G>A ENST00000396137.4 + 7 2384 c.1922G>A c.(1921-1923)cGc>cAc p.R641H JMY_ENST00000412001.1_Intron NM_152405.4 NP_689618.4 Q8N9B5 JMY_HUMAN junction mediating and regulatory protein, p53 cofactor 641 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1) 16 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) ATCCAACAGCGCACTCGGATT 0.313000 5 308 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90500052 90500052 + Missense_Mutation SNP C C T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr9:90500052C>T ENST00000325643.5 + 4 716 c.650C>T c.(649-651)tCa>tTa p.S217L NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 GGACCACACTCAACCCTGAGT 0.617000 105 82 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169227710 169227710 + Silent SNP G G A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr4:169227710G>A ENST00000393743.3 - 5 717 c.426C>T c.(424-426)ttC>ttT p.F142F NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 142 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) CAACTATCAGGAAATATGGGT 0.393000 34 75 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22222715 22222715 + Missense_Mutation SNP G G A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr1:22222715G>A ENST00000374695.3 - 2 231 c.152C>T c.(151-153)tCg>tTg p.S51L NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 51 angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) AGAAAGGTACGAATGTGTCCA 0.562000 61 103 0 0 1 0 0 RPS6KA5 9252 broad.mit.edu 37 14 91369252 91369252 + Missense_Mutation SNP C C A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr14:91369252C>A ENST00000261991.3 - 9 1192 c.1019G>T c.(1018-1020)cGa>cTa p.R340L RPS6KA5_ENST00000536315.2_Missense_Mutation_p.R261L|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.R340L NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 340 AGC-kinase C-terminal. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) TAATTCATCTCGAATGACTGG 0.408000 16 50 1.67942e-08 1.73301e-08 1 1 0 C7orf34 135927 broad.mit.edu 37 7 142637512 142637512 + Missense_Mutation SNP G G A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr7:142637512G>A ENST00000409607.3 + 2 323 c.282G>A c.(280-282)atG>atA p.M94I NM_178829.4 NP_849151.2 Q96L11 CG034_HUMAN chromosome 7 open reading frame 34 69 extracellular region large_intestine(1)|lung(4) 5 Melanoma(164;0.059) TGGTGGACATGGCCCAGCAGG 0.527000 39 68 0 0 1 0 0 ADH5 128 broad.mit.edu 37 4 100003216 100003216 + Missense_Mutation SNP C C T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr4:100003216C>T ENST00000296412.8 - 3 216 c.166G>A c.(166-168)Gat>Aat p.D56N ADH5_ENST00000512991.1_5'UTR NM_000671.3 NP_000662.3 P11766 ADHX_HUMAN alcohol dehydrogenase 5 (class III), chi polypeptide 56 ethanol oxidation|response to redox state alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.5e-07) NADH(DB00157) CCCTCAGGATCAGCTCCACTC 0.468000 11 30 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276363 186276363 + Missense_Mutation SNP G G T rs113621509 TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr1:186276363G>T ENST00000445192.2 + 7 1557 c.1512G>T c.(1510-1512)aaG>aaT p.K504N PRG4_ENST00000367486.3_Missense_Mutation_p.K461N|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.K463N|PRG4_ENST00000367485.4_Missense_Mutation_p.K411N NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 504 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CCACTCCCAAGGAGCCTGCAC 0.647000 45 72 2.59344e-38 2.92516e-38 1 1 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 6 95 0 0 1 0 0 OR52E8 390079 broad.mit.edu 37 11 5878254 5878254 + Silent SNP G G A TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr11:5878254G>A ENST00000537935.1 - 1 710 c.679C>T c.(679-681)Ctg>Ttg p.L227L TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACAGCATACAGGATCCTGACA 0.458000 6 158 0 0 1 0 0 RP11-400N13.1 0 broad.mit.edu 37 1 222435119 222435119 + RNA DEL T T - TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr1:222435119delT ENST00000416510.1 - 0 167 CAATAATTTCTTTTTTTTTTA 0.299 2 4 --- --- --- --- ARID2 196528 broad.mit.edu 37 12 46245690 46245690 + Frame_Shift_Del DEL A A - TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr12:46245690delA ENST00000334344.6 + 15 3956 c.3784delA c.(3784-3786)aafs p.K1262fs ARID2_ENST00000444670.1_Frame_Shift_Del_p.K872fs|ARID2_ENST00000422737.1_Frame_Shift_Del_p.K1113fs|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1262 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TCATGAACGTAAAATTGAAGT 0.423 """N, S, F""" hepatocellular carcinoma 51 22 --- --- --- --- RP11-488I20.8 0 broad.mit.edu 37 16 34481062 34481062 + RNA DEL A A - TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr16:34481062delA ENST00000569557.2 + 0 63 CCTTTGGGGCAAAAAAAAAAA 0.438 3 3 --- --- --- --- SF3A2 8175 broad.mit.edu 37 19 2248458 2248458 + Frame_Shift_Del DEL C C - TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr19:2248458delC ENST00000221494.4 + 9 1726 c.1308delC c.(1306-1308)cafs p.H436fs NM_007165.4 NP_009096.2 Q15428 SF3A2_HUMAN splicing factor 3a, subunit 2, 66kDa 436 Pro-rich. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex nucleic acid binding|zinc ion binding NS(1)|large_intestine(1)|lung(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTGGGGTGCACCCCCCAACTC 0.682 2 4 --- --- --- --- CRLF1 9244 broad.mit.edu 37 19 18704897 18704898 + Frame_Shift_Ins INS - - T TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr19:18704897_18704898insT ENST00000392386.3 - 8 1425_1426 c.1232_1233insA c.(1231-1233)tggfs p.W411fs CRLF1_ENST00000594325.1_Intron NM_004750.4 NP_004741.1 O75462 CRLF1_HUMAN cytokine receptor-like factor 1 411 negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 9 CCCGTCTGCCCGAGGGCAGGAT 0.668 2 4 --- --- --- --- ZNF234 10780 broad.mit.edu 37 19 44654608 44654608 + Frame_Shift_Del DEL A A - TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chr19:44654608delA ENST00000426739.2 + 5 443 c.185delA c.(184-186)gafs p.E62fs ZNF234_ENST00000592437.1_Frame_Shift_Del_p.E62fs NM_006630.2 NP_006621.1 Q14588 ZN234_HUMAN zinc finger protein 234 62 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1) 23 Prostate(69;0.0435) TTAGAAAAGGAAAAAAAGCTT 0.368 2 4 --- --- --- --- LINC01278 92249 broad.mit.edu 37 X 62733894 62733894 + RNA DEL C C - TCGA-P3-A6T2-01A-11D-A34J-08 TCGA-P3-A6T2-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1e5863aa-e5cb-4d2a-8b39-34e90d8152b5 12ea5efd-f694-47d8-a046-ae4341939a65 g.chrX:62733894delC ENST00000433061.1 - 0 391 gagctcatatccaaggttact 0.433 2 4 --- --- --- ---