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 KIAA1109 84162 broad.mit.edu 37 4 123140523 123140523 + Missense_Mutation SNP A A G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr4:123140523A>G ENST00000264501.4 + 21 2649 c.2276A>G c.(2275-2277)tAt>tGt p.Y759C KIAA1109_ENST00000455637.1_Missense_Mutation_p.Y759C|KIAA1109_ENST00000388738.3_Missense_Mutation_p.Y759C|KIAA1109_ENST00000495260.1_3'UTR Q2LD37 K1109_HUMAN KIAA1109 759 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GATGACATGTATATGGATTTT 0.353000 73 209 0 0 1 0 0 BICD1 636 broad.mit.edu 37 12 32480416 32480416 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr12:32480416C>T ENST00000548411.1 + 5 1208 c.1027C>T c.(1027-1029)Ctt>Ttt p.L343F BICD1_ENST00000281474.5_Missense_Mutation_p.L343F NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 343 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) AAAGGCCATTCTTTTGGCCAA 0.527000 37 93 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43907942 43907942 + Missense_Mutation SNP C C G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr1:43907942C>G ENST00000562955.1 + 56 7706 c.7706C>G c.(7705-7707)gCc>gGc p.A2569G SZT2_ENST00000372442.1_Missense_Mutation_p.A1727G NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2626 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 CCTGTAGCTGCCAAAGCCATG 0.602000 12 35 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179597359 179597359 + Missense_Mutation SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr2:179597359T>C ENST00000589042.1 - 56 16653 c.16429A>G c.(16429-16431)Act>Gct p.T5477A TTN_ENST00000591111.1_Missense_Mutation_p.T5160A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T4233A|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5160 Ig-like 35. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTGAGAGGAGTAGATCCTTGG 0.468000 23 67 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37491963 37491963 + Missense_Mutation SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr22:37491963T>C ENST00000381792.2 - 5 712 c.572A>G c.(571-573)gAg>gGg p.E191G TMPRSS6_ENST00000442782.2_Missense_Mutation_p.E200G|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E191G|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E191G|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.E200G Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 200 angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 CACTAGGCCCTCGGGGTCCAC 0.647000 36 81 0 0 1 0 0 PGBD1 84547 broad.mit.edu 37 6 28264676 28264676 + Silent SNP C C G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr6:28264676C>G ENST00000405948.2 + 5 1146 c.726C>G c.(724-726)ctC>ctG p.L242L PGBD1_ENST00000259883.3_Silent_p.L242L NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 242 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 GGAGGAACCTCTGTGGGAACT 0.512000 4 80 0 0 1 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149225491 149225491 + Missense_Mutation SNP A A C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr5:149225491A>C ENST00000394320.3 + 11 3027 c.2985A>C c.(2983-2985)aaA>aaC p.K995N PPARGC1B_ENST00000309241.5_Intron|PPARGC1B_ENST00000360453.4_Intron|PPARGC1B_ENST00000403750.1_Intron Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 0 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) AGCCCCTGAAACCCAGCCACA 0.567000 8 42 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31391868 31391868 + Missense_Mutation SNP G G T rs143612140 TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr16:31391868G>T ENST00000268296.4 + 28 3320 c.3199G>T c.(3199-3201)Gtg>Ttg p.V1067L ITGAX_ENST00000562522.1_Missense_Mutation_p.V1067L NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 1067 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 GGTGTCGGTCGTGAGTGTGGC 0.562000 21 23 1.87028e-06 1.97483e-06 1 1 0 TP53 7157 broad.mit.edu 37 17 7577141 7577141 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr17:7577141C>T ENST00000420246.2 - 8 929 c.797G>A c.(796-798)gGa>gAa p.G266E TP53_ENST00000269305.4_Missense_Mutation_p.G266E|TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000445888.2_Missense_Mutation_p.G266E|TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 266 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (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.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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) GCTGTTCCGTCCCAGTAGATT 0.517000 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) 18 38 0 0 1 0 0 IRX5 10265 broad.mit.edu 37 16 54967589 54967589 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr16:54967589G>A ENST00000394636.4 + 3 1593 c.1256G>A c.(1255-1257)gGa>gAa p.G419E IRX5_ENST00000558597.1_Missense_Mutation_p.G353E|IRX5_ENST00000320990.5_Missense_Mutation_p.G418E|IRX5_ENST00000560154.1_Missense_Mutation_p.G199E P78411 IRX5_HUMAN iroquois homeobox 5 419 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 GGCTCCTTCGGACACCTTCAT 0.637000 20 79 0 0 1 0 0 MYL4 4635 broad.mit.edu 37 17 45291173 45291173 + Silent SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr17:45291173C>T ENST00000354968.1 + 3 272 c.144C>T c.(142-144)ttC>ttT p.F48F MYL4_ENST00000393450.1_Silent_p.F48F|MYL4_ENST00000572316.1_Silent_p.F48F NM_001002841.1 NP_001002841.1 P12829 MYL4_HUMAN myosin, light chain 4, alkali; atrial, embryonic 48 cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction A band|cytosol|muscle myosin complex actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1) 11 AGATAGACTTCACTGCCGACC 0.507000 84 150 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93956565 93956565 + Missense_Mutation SNP C C A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr6:93956565C>A ENST00000369303.4 - 15 2855 c.2671G>T c.(2671-2673)Gac>Tac p.D891Y NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 891 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity p.D891Y(1) NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) ATCATTTTGTCTAGAATTCCA 0.433000 43 110 6.4771e-29 7.38998e-29 1 1 0 SCYL1 57410 broad.mit.edu 37 11 65304218 65304218 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr11:65304218G>A ENST00000524944.1 + 13 1846 c.1813G>A c.(1813-1815)Gaa>Aaa p.E605K SCYL1_ENST00000270176.5_Missense_Mutation_p.E605K|SCYL1_ENST00000533862.1_Missense_Mutation_p.E605K|SCYL1_ENST00000420247.2_Missense_Mutation_p.E605K|SCYL1_ENST00000279270.6_Missense_Mutation_p.E605K|SCYL1_ENST00000527009.1_Missense_Mutation_p.E462K|SCYL1_ENST00000525364.1_Missense_Mutation_p.E605K|SCYL1_ENST00000527630.1_Missense_Mutation_p.E605K Q96KG9 NTKL_HUMAN SCY1-like 1 (S. cerevisiae) 605 Pro-rich. regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity ovary(1)|skin(1) 2 ACCCACGCCTGAAGGTGAGTG 0.607000 49 125 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412212 139412212 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr9:139412212C>T ENST00000277541.6 - 8 1508 c.1433G>A c.(1432-1434)tGc>tAc p.C478Y NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 478 EGF-like 12; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.C478F(2) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ACCGGGCATGCAGATGCACTG 0.672000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 104 29 0 0 1 0 0 SPOCK1 6695 broad.mit.edu 37 5 136448238 136448238 + Silent SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr5:136448238C>T ENST00000394945.1 - 5 529 c.360G>A c.(358-360)ggG>ggA p.G120G SPOCK1_ENST00000282223.7_Silent_p.G120G NM_004598.3 NP_004589.1 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 120 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGGCCACGTTCCCCTTCTTTT 0.488000 22 70 0 0 1 0 0 AXDND1 126859 broad.mit.edu 37 1 179414261 179414261 + Missense_Mutation SNP C C G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr1:179414261C>G ENST00000367618.3 + 16 2107 c.1720C>G c.(1720-1722)Cga>Gga p.R574G AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Missense_Mutation_p.R574G NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 574 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 GCCATCAGAGCGACAGTACAT 0.338000 35 67 0 0 1 0 0 PAN2 9924 broad.mit.edu 37 12 56712923 56712923 + Missense_Mutation SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr12:56712923T>C ENST00000425394.2 - 24 3701 c.3325A>G c.(3325-3327)Atg>Gtg p.M1109V PAN2_ENST00000548043.1_Missense_Mutation_p.M1109V|PAN2_ENST00000257931.5_Missense_Mutation_p.M1108V|PAN2_ENST00000440411.3_Missense_Mutation_p.M1105V|PAN2_ENST00000549090.1_Intron NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 1109 Exonuclease. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TTTCGGGGCATATGGAACAGG 0.498000 24 55 0 0 1 0 0 MEIOB 254528 broad.mit.edu 37 16 1894871 1894871 + Missense_Mutation SNP G G C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr16:1894871G>C ENST00000412554.2 - 10 1066 c.872C>G c.(871-873)tCc>tGc p.S291C MEIOB_ENST00000452149.2_Missense_Mutation_p.S291C|MEIOB_ENST00000325962.3_Missense_Mutation_p.S291C|MEIOB_ENST00000470044.1_Missense_Mutation_p.S84C|MEIOB_ENST00000397344.3_Missense_Mutation_p.S291C NM_001163560.2 NP_001157032.1 meiosis specific with OB domains ACAATTTATGGATTCTTTGAA 0.308000 18 12 0 0 1 0 0 QSOX1 5768 broad.mit.edu 37 1 180155269 180155269 + Silent SNP A A G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr1:180155269A>G ENST00000367602.3 + 8 1043 c.969A>G c.(967-969)gaA>gaG p.E323E QSOX1_ENST00000367600.5_Silent_p.E323E O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 323 cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 CGGTCCTGGAAGGGCAGCGCC 0.577000 20 53 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55537622 55537622 + Missense_Mutation SNP A A G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr8:55537622A>G ENST00000220676.1 + 4 1328 c.1180A>G c.(1180-1182)Atg>Gtg p.M394V NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 394 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TGTGTCACCTATGGAGCGAAG 0.423000 29 105 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579760 55579760 + Missense_Mutation SNP T T G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr11:55579760T>G ENST00000333973.2 + 1 907 c.818T>G c.(817-819)gTg>gGg p.V273G NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) GCTGACAAAGTGGCCACCGTG 0.473000 33 70 0 0 1 0 0 AGMO 392636 broad.mit.edu 37 7 15601453 15601453 + Silent SNP G G T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr7:15601453G>T ENST00000342526.3 - 1 187 c.18C>A c.(16-18)gcC>gcA p.A6A NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 6 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 CATCCTGCTGGGCTTCTGGGT 0.443000 35 150 2.68265e-12 2.98072e-12 1 1 0 KCTD3 51133 broad.mit.edu 37 1 215777507 215777507 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr1:215777507G>A ENST00000259154.4 + 13 1466 c.1172G>A c.(1171-1173)gGt>gAt p.G391D NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 391 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) ATCGCCTATGGTACGAGCTCT 0.453000 33 86 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 62 0 0 1 0 0 RSPO2 340419 broad.mit.edu 37 8 108972911 108972911 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr8:108972911C>T ENST00000276659.5 - 4 1038 c.418G>A c.(418-420)Gaa>Aaa p.E140K RSPO2_ENST00000517939.1_Missense_Mutation_p.E73K|RSPO2_ENST00000517781.1_Missense_Mutation_p.E77K|RSPO2_ENST00000378439.2_Missense_Mutation_p.E77K NM_178565.4 NP_848660.3 Q6UXX9 RSPO2_HUMAN R-spondin 2 140 Wnt receptor signaling pathway extracellular region heparin binding EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) CCCACACATTCCATGGTTTCT 0.348000 22 149 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47630398 47630398 + Missense_Mutation SNP G G C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr20:47630398G>C ENST00000371917.4 + 30 4080 c.4080G>C c.(4078-4080)aaG>aaC p.K1360N NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1360 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) AGATCATGAAGAGCTATGGCC 0.473000 42 153 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66204885 66204885 + Missense_Mutation SNP C C A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr6:66204885C>A ENST00000503581.1 - 4 956 c.419G>T c.(418-420)tGg>tTg p.W140L EYS_ENST00000342421.5_Missense_Mutation_p.W140L|EYS_ENST00000393380.2_Missense_Mutation_p.W140L|EYS_ENST00000370618.3_Missense_Mutation_p.W140L|EYS_ENST00000370621.3_Missense_Mutation_p.W140L|EYS_ENST00000370616.2_Missense_Mutation_p.W140L NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 140 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 AACACTCAGCCACTTAGAATT 0.423000 39 79 6.97489e-18 7.80086e-18 1 1 0 JPH4 84502 broad.mit.edu 37 14 24045205 24045205 + Missense_Mutation SNP C C G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr14:24045205C>G ENST00000397118.3 - 4 1742 c.840G>C c.(838-840)gaG>gaC p.E280D JPH4_ENST00000356300.4_Missense_Mutation_p.E280D NM_032452.2 NP_115828.2 Q96JJ6 JPH4_HUMAN junctophilin 4 280 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) CCGCGTACACCTCTGTGGCCG 0.766000 3 8 0 0 1 0 0 ATG4D 84971 broad.mit.edu 37 19 10655726 10655726 + Missense_Mutation SNP C C G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr19:10655726C>G ENST00000309469.4 + 3 586 c.413C>G c.(412-414)tCg>tGg p.S138W ATG4D_ENST00000540862.1_5'UTR NM_032885.4 NP_116274.3 Q86TL0 ATG4D_HUMAN autophagy related 4D, cysteine peptidase 138 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 19 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) TGCCTGACCTCGGACTGTGGC 0.632000 18 266 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58557303 58557303 + Missense_Mutation SNP A A T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr16:58557303A>T ENST00000317147.5 - 47 7220 c.6888T>A c.(6886-6888)aaT>aaA p.N2296K CNOT1_ENST00000245138.4_Missense_Mutation_p.N1147K|CNOT1_ENST00000569240.1_Missense_Mutation_p.N2291K NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 2296 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TGGCTTCCGTATTGGCCTCTG 0.413000 35 164 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153906274 153906274 + Silent SNP C C G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr1:153906274C>G ENST00000361217.4 - 20 3433 c.3015G>C c.(3013-3015)ctG>ctC p.L1005L NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 1005 NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CTGTCAGGCTCAGGTCTGAGA 0.642000 13 14 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152277201 152277201 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr1:152277201G>A ENST00000368799.1 - 3 10196 c.10161C>T c.(10159-10161)ctC>ctT p.L3387L FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3387 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCACCTGGTAGAGGAAAGACC 0.612000 Ichthyosis 201 385 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121207907 121207907 + Missense_Mutation SNP G G C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr3:121207907G>C ENST00000264233.5 - 16 3999 c.3871C>G c.(3871-3873)Cta>Gta p.L1291V NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1291 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TTTTCTTGTAGTCTAGAAATA 0.333000 DNA polymerases (catalytic subunits) 64 200 0 0 1 0 0 ZNF184 7738 broad.mit.edu 37 6 27420364 27420364 + Missense_Mutation SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr6:27420364T>C ENST00000211936.6 - 6 1258 c.974A>G c.(973-975)cAg>cGg p.Q325R ZNF184_ENST00000377419.1_Missense_Mutation_p.Q325R NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 ATGAATTCTCTGATGCTGAAC 0.403000 32 42 0 0 1 0 0 TRAF3IP2 10758 broad.mit.edu 37 6 111912597 111912597 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr6:111912597G>A ENST00000368761.5 - 2 1171 c.693C>T c.(691-693)ctC>ctT p.L231L TRAF3IP2_ENST00000359831.4_Silent_p.L231L|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000340026.6_Silent_p.L240L|TRAF3IP2_ENST00000392556.4_5'UTR NM_001164281.2|NM_147686.3 NP_001157753.1|NP_679211.2 O43734 CIKS_HUMAN TRAF3 interacting protein 2 240 intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 18 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) CCCTGGACCTGAGAGGTCTGG 0.572000 62 99 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 468941 468941 + Missense_Mutation SNP C C A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr10:468941C>A ENST00000280886.6 - 5 514 c.427G>T c.(427-429)Gtg>Ttg p.V143L DIP2C_ENST00000381496.3_Missense_Mutation_p.V36L NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 143 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TCCCCCTGCACTGAGCCTTCA 0.562000 58 128 7.10663e-31 8.21855e-31 1 1 0 CPAMD8 27151 broad.mit.edu 37 19 17088291 17088291 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr19:17088291C>T ENST00000443236.1 - 15 1817 c.1786G>A c.(1786-1788)Gtg>Atg p.V596M CPAMD8_ENST00000388925.4_Intron NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 549 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CTGGGGGTCACGGCCAGATGA 0.592000 29 51 0 0 1 0 0 WBP11 51729 broad.mit.edu 37 12 14946725 14946725 + Missense_Mutation SNP C C T rs150908147 TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr12:14946725C>T ENST00000261167.2 - 8 1086 c.853G>A c.(853-855)Ggg>Agg p.G285R WBP11_ENST00000537574.1_Missense_Mutation_p.G285R NM_016312.2 NP_057396.1 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 285 Asp-rich. mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding p.G285W(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1) 30 AATTCATCCCCGTCACTTTCT 0.423000 128 262 0 0 1 0 0 CYP2R1 120227 broad.mit.edu 37 11 14901976 14901976 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr11:14901976C>T ENST00000334636.5 - 3 752 c.706G>A c.(706-708)Ggc>Agc p.G236S CYP2R1_ENST00000532378.1_Intron|CYP2R1_ENST00000526489.1_5'UTR NM_024514.4 NP_078790.2 Q6VVX0 CP2R1_HUMAN cytochrome P450, family 2, subfamily R, polypeptide 1 236 hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Cholecalciferol(DB00169)|Ergocalciferol(DB00153) GGCAGGATGCCAATCCATGGA 0.398000 31 83 0 0 1 0 0 SOBP 55084 broad.mit.edu 37 6 107955178 107955178 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr6:107955178G>A ENST00000317357.5 + 6 1789 c.1130G>A c.(1129-1131)gGc>gAc p.G377D NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 377 Pro-rich. metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) CCTCCCCTTGGCGTCCCGCCT 0.647000 47 97 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49428450 49428450 + Splice_Site SNP C C G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr12:49428450C>G ENST00000301067.7 - 36 10355 c.e36-1 NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CACTTGCTGTCTGGAGTCCAC 0.547000 7 27 0 0 1 0 0 CACNB2 783 broad.mit.edu 37 10 18629869 18629869 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr10:18629869G>A ENST00000377329.4 + 1 204 c.14G>A c.(13-15)cGc>cAc p.R5H CACNB2_ENST00000282343.8_Intron|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000324631.7_Intron|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000396576.2_Intron NM_201590.2 NP_963884.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 0 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CTTGACAGACGCCTTATAGCT 0.478000 48 120 0 0 1 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58850657 58850657 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr19:58850657G>A ENST00000329665.4 + 3 1588 c.1441G>A c.(1441-1443)Gtt>Att p.V481I NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 481 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) AGCCCTGATGGTTCACTTGCG 0.587000 28 44 0 0 1 0 0 EPHA10 284656 broad.mit.edu 37 1 38181550 38181550 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr1:38181550G>A ENST00000330210.7 - 14 1939 c.1626C>T c.(1624-1626)tgC>tgT p.C542C EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_3'UTR Q5JZY3 EPHAA_HUMAN EPH receptor A10 0 Fibronectin type-III 2. extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GATCTCAGACGCAGATTCTGG 0.557000 18 43 0 0 1 0 0 PHF2 5253 broad.mit.edu 37 9 96437264 96437264 + Missense_Mutation SNP G G C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr9:96437264G>C ENST00000359246.4 + 19 3049 c.2682G>C c.(2680-2682)aaG>aaC p.K894N PHF2_ENST00000375376.4_Missense_Mutation_p.K125N NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 894 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) CCCGGTCGAAGAAAAGGAAAG 0.582000 17 94 0 0 1 0 0 TBX20 57057 broad.mit.edu 37 7 35242348 35242348 + Silent SNP G G C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr7:35242348G>C ENST00000408931.3 - 8 1564 c.1038C>G c.(1036-1038)ctC>ctG p.L346L NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 346 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 CCCAGGAGCTGAGAGACAAAT 0.438000 3 18 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122645415 122645415 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr3:122645415G>A ENST00000195173.4 - 9 1263 c.960C>T c.(958-960)cgC>cgT p.R320R SEMA5B_ENST00000357599.3_Silent_p.R320R|SEMA5B_ENST00000451055.2_Silent_p.R374R Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 320 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) TCTTGCACACGCGGGCCACGC 0.617000 19 58 0 0 1 0 0 MEIS1 4211 broad.mit.edu 37 2 66739354 66739354 + Silent SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr2:66739354T>C ENST00000488550.1 + 8 1115 c.816T>C c.(814-816)cgT>cgC p.R272R MEIS1_ENST00000444274.2_Intron|MEIS1_ENST00000398506.2_Silent_p.R270R|MEIS1_ENST00000560281.2_Silent_p.R272R|MEIS1_ENST00000407092.2_Silent_p.R272R|MEIS1_ENST00000409517.1_Intron|MEIS1_ENST00000272369.9_Silent_p.R272R|MEIS1_ENST00000495021.2_Silent_p.R207R O00470 MEIS1_HUMAN Meis homeobox 1 272 R -> H (found in a patient with susceptibility to restless legs syndrome; also found in unaffected persons, although very rare; dbSNP:rs61752693). sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 24 ACAAAAAGCGTCACAAAAAGC 0.438000 16 14 0 0 1 0 0 MROH1 727957 broad.mit.edu 37 8 145223234 145223234 + Missense_Mutation SNP A A G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr8:145223234A>G ENST00000528919.1 + 3 180 c.59A>G c.(58-60)aAg>aGg p.K20R MROH1_ENST00000534366.1_Missense_Mutation_p.K20R|MROH1_ENST00000398656.4_Missense_Mutation_p.K20R|MROH1_ENST00000326134.5_Missense_Mutation_p.K20R|MROH1_ENST00000423230.2_Missense_Mutation_p.K20R NM_032450.2 NP_115826.2 maestro heat-like repeat family member 1 ATCACCGATAAGGACCCCCTG 0.667000 28 31 0 0 1 0 0 PON3 5446 broad.mit.edu 37 7 95019514 95019514 + Silent SNP G G C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr7:95019514G>C ENST00000265627.5 - 3 163 c.153C>G c.(151-153)ggC>ggG p.G51G PON3_ENST00000475439.1_5'UTR|PON3_ENST00000427422.1_Silent_p.G51G|PON1_ENST00000542556.1_Intron NM_000940.2 NP_000931.1 paraoxonase 3 breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 24 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) TATCTTCAGAGCCACTTTCTG 0.378000 101 225 0 0 1 0 0 TMEM154 201799 broad.mit.edu 37 4 153601078 153601078 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr4:153601078G>A ENST00000304385.3 - 1 239 c.8C>T c.(7-9)gCt>gTt p.A3V TMEM154_ENST00000504064.1_Missense_Mutation_p.A3V NM_152680.2 NP_689893.1 Q6P9G4 TM154_HUMAN transmembrane protein 154 3 integral to membrane kidney(2)|large_intestine(1) 3 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) TGCGCGGGGAGCCTGCATGTC 0.642000 5 14 0 0 1 0 0 SYNCRIP 10492 broad.mit.edu 37 6 86328538 86328538 + Silent SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr6:86328538T>C ENST00000355238.6 - 10 1484 c.1278A>G c.(1276-1278)caA>caG p.Q426Q SYNCRIP_ENST00000369622.3_Silent_p.Q426Q NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 426 Interaction with APOBEC1. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) TCACTCACATTTGATTTTTTG 0.308000 7 19 0 0 1 0 0 HHIPL2 79802 broad.mit.edu 37 1 222717416 222717416 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr1:222717416G>A ENST00000343410.6 - 2 495 c.437C>T c.(436-438)tCa>tTa p.S146L NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 146 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) GGAAATGGCTGAGTGACAGTT 0.587000 70 142 0 0 1 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6077129 6077129 + Missense_Mutation SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr7:6077129T>C ENST00000199389.6 - 11 1404 c.1258A>G c.(1258-1260)Aca>Gca p.T420A EIF2AK1_ENST00000536084.1_Missense_Mutation_p.T296A NM_001134335.1|NM_014413.3 NP_001127807.1|NP_055228.2 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha kinase 1 420 Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) AAAATTTTTGTTGCAACATTG 0.323000 58 173 0 0 1 0 0 RPS25 6230 broad.mit.edu 37 11 118888677 118888677 + Silent SNP G G A rs3209457 TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr11:118888677G>A ENST00000527673.1 - 2 495 c.90C>T c.(88-90)gcC>gcT p.A30A RPS25_ENST00000528547.1_5'UTR NM_001028.2 NP_001019.1 P62851 RS25_HUMAN ribosomal protein S25 30 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding|RNA binding endometrium(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) CCTTCTTTTTGGCCTTGCCCC 0.468000 63 128 0 0 1 0 0 SORBS1 10580 broad.mit.edu 37 10 97174295 97174295 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr10:97174295G>A ENST00000371247.2 - 9 955 c.766C>T c.(766-768)Cgc>Tgc p.R256C SORBS1_ENST00000371227.4_Missense_Mutation_p.R256C|SORBS1_ENST00000371245.3_Missense_Mutation_p.R187C|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.R256C|SORBS1_ENST00000361941.3_Missense_Mutation_p.R256C|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.R256C|SORBS1_ENST00000393949.1_Missense_Mutation_p.R247C|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000354106.3_Missense_Mutation_p.R247C|SORBS1_ENST00000353505.5_Missense_Mutation_p.R187C|SORBS1_ENST00000371249.2_Missense_Mutation_p.R224C|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000347291.4_Intron Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 256 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) GAGACTCTGCGGAGGTCCTCC 0.637000 24 58 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76464798 76464798 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr17:76464798G>A ENST00000389840.5 - 55 8761 c.8637C>T c.(8635-8637)atC>atT p.I2879I DNAH17_ENST00000585328.1_Silent_p.I2888I|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TGGAGGAGATGATGTTCTCCA 0.537000 28 61 0 0 1 0 0 EPS8L3 79574 broad.mit.edu 37 1 110294291 110294291 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr1:110294291G>A ENST00000369805.3 - 16 1780 c.1551C>T c.(1549-1551)ggC>ggT p.G517G EPS8L3_ENST00000361852.4_Silent_p.G486G|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361965.4_Silent_p.G516G NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 516 cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) AGGGTGACTGGCCCTGGGTCC 0.622000 33 44 0 0 1 0 0 CDH1 999 broad.mit.edu 37 16 68849489 68849489 + Silent SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr16:68849489C>T ENST00000261769.5 + 10 1583 c.1392C>T c.(1390-1392)gtC>gtT p.V464V RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Silent_p.V403V|CDH1_ENST00000562836.1_3'UTR NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 464 Cadherin 3. adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(1) NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) CTTTTGAGGTCTCTCTCACCA 0.498000 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 69 66 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76754297 76754297 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr18:76754297C>T ENST00000536229.3 + 1 2616 c.1907C>T c.(1906-1908)aCg>aTg p.T636M SALL3_ENST00000537592.2_Missense_Mutation_p.T769M|SALL3_ENST00000575389.2_Missense_Mutation_p.T769M Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 769 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) ATCCCCAACACGCCGCTGCCG 0.637000 17 28 0 0 1 0 0 DNAJC14 85406 broad.mit.edu 37 12 56222003 56222003 + Missense_Mutation SNP T T A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr12:56222003T>A ENST00000357606.3 - 3 729 c.440A>T c.(439-441)aAt>aTt p.N147I DNAJC14_ENST00000317269.3_Missense_Mutation_p.N147I|DNAJC14_ENST00000317287.5_Missense_Mutation_p.N147I Q6Y2X3 DJC14_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 14 147 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1) 23 AGAAGAACCATTTCCTCCCTC 0.483000 91 161 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153905961 153905961 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr1:153905961C>T ENST00000361217.4 - 20 3746 c.3328G>A c.(3328-3330)Gag>Aag p.E1110K NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 1110 Ser-rich. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CTGGCTACCTCGGAGGCAGTG 0.647000 10 19 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48845609 48845609 + Missense_Mutation SNP G G C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr8:48845609G>C ENST00000314191.2 - 16 1803 c.1747C>G c.(1747-1749)Ctt>Gtt p.L583V PRKDC_ENST00000338368.3_Missense_Mutation_p.L583V|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 583 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGTATTTCAAGTGTAAGATCC 0.299000 Non-homologous end-joining 8 28 0 0 1 0 0 DCLK1 9201 broad.mit.edu 37 13 36700037 36700037 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr13:36700037G>A ENST00000255448.4 - 2 449 c.238C>T c.(238-240)Cgg>Tgg p.R80W DCLK1_ENST00000379892.4_Missense_Mutation_p.R80W|DCLK1_ENST00000360631.3_Missense_Mutation_p.R80W NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 80 Doublecortin 1. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) GATCGGAACCGGTCTGGGGAG 0.507000 40 122 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93956564 93956564 + Missense_Mutation SNP T T A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr6:93956564T>A ENST00000369303.4 - 15 2856 c.2672A>T c.(2671-2673)gAc>gTc p.D891V NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 891 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) AATCATTTTGTCTAGAATTCC 0.433000 44 112 0 0 1 0 0 CDAN1 146059 broad.mit.edu 37 15 43027800 43027800 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr15:43027800C>T ENST00000356231.3 - 4 874 c.851G>A c.(850-852)gGa>gAa p.G284E NM_138477.2 NP_612486.2 Q8IWY9 CDAN1_HUMAN codanin 1 284 integral to membrane protein binding endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 24 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) TGTGAGGCTTCCTGTCCGGCT 0.572000 62 30 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225662626 225662626 + Missense_Mutation SNP T T A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr2:225662626T>A ENST00000409592.3 - 42 4662 c.4549A>T c.(4549-4551)Atg>Ttg p.M1517L DOCK10_ENST00000258390.7_Missense_Mutation_p.M1523L Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1523 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) AAAAAGAGCATGTAGGTATCA 0.408000 51 58 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579521 7579521 + Nonsense_Mutation SNP C C A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr17:7579521C>A ENST00000420246.2 - 4 298 c.166G>T c.(166-168)Gaa>Taa p.E56* TP53_ENST00000269305.4_Nonsense_Mutation_p.E56*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E56*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E56*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E56*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E56* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 56 Interaction with HRMT1L2. E -> K (in sporadic cancers; somatic mutation).|E -> V (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.0?(8)|p.E56*(7)|p.E56K(3)|p.E56fs*73(3)|p.E51fs*59(1)|p.Q52fs*67(1)|p.D48fs*55(1)|p.E56fs*67(1)|p.P13fs*18(1)|p.S33fs*23(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) CCTGGGTCTTCAGTGAACCAT 0.597000 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) 85 197 9.01214e-43 1.04936e-42 1 1 0 MAL 4118 broad.mit.edu 37 2 95713749 95713749 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr2:95713749C>T ENST00000309988.4 + 2 248 c.139C>T c.(139-141)Ccc>Tcc p.P47S MAL_ENST00000353004.3_Missense_Mutation_p.P47S|MAL_ENST00000354078.3_Intron|MAL_ENST00000349807.3_Intron NM_002371.3 NP_002362.1 P21145 MAL_HUMAN mal, T-cell differentiation protein 47 MARVEL. apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2) 10 STAD - Stomach adenocarcinoma(1183;0.18) CTCCCTGGTGCCCTGGCCCCT 0.632000 37 82 0 0 1 0 0 PLA2G3 50487 broad.mit.edu 37 22 31534395 31534395 + Splice_Site SNP A A G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr22:31534395A>G ENST00000215885.3 - 3 901 c.647_splice c.e3-1 p.F217_splice NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 217 Phospholipase A2-like. cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 CATTGCTGAAACCTGCCCCAG 0.602000 11 51 0 0 1 0 0 SLC27A6 28965 broad.mit.edu 37 5 128365282 128365282 + Missense_Mutation SNP G G C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr5:128365282G>C ENST00000262462.4 + 9 2575 c.1565G>C c.(1564-1566)aGa>aCa p.R522T SLC27A6_ENST00000506176.1_Missense_Mutation_p.R522T|SLC27A6_ENST00000395266.1_Missense_Mutation_p.R522T Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 522 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TATGAAGGAAGAGCAGGAATG 0.303000 23 67 0 0 1 0 0 SLC9A3R2 9351 broad.mit.edu 37 16 2086358 2086358 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr16:2086358C>T ENST00000424542.2 + 3 586 c.448C>T c.(448-450)Cgg>Tgg p.R150W SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.R150W|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.R39W|SLC9A3R2_ENST00000565086.1_3'UTR|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.R44W NM_001130012.2|NM_004785.5 NP_001123484.1|NP_004776.3 Q15599 NHRF2_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2 150 PDZ 2. protein complex assembly apical plasma membrane|endomembrane system|nucleus beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding central_nervous_system(1)|endometrium(1) 2 GCTGCGCCCTCGGCTCTGCCA 0.667000 10 11 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508487 37508487 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr10:37508487C>T ENST00000374660.1 + 40 4135 c.4036C>T c.(4036-4038)Cat>Tat p.H1346Y ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H1227Y|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.H1227Y Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1283 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.H1227D(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GGTTTCAGAACATGCACAAAG 0.373000 19 51 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9784853 9784853 + Missense_Mutation SNP C C G rs114936842 by1000genomes TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr4:9784853C>G ENST00000304374.2 + 1 1596 c.1200C>G c.(1198-1200)atC>atG p.I400M NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 400 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane p.I400M(2) NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) ACCAAGACATCGTCTTCCACA 0.592000 3 66 0 0 1 0 0 MARCH6 10299 broad.mit.edu 37 5 10433762 10433762 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr5:10433762C>T ENST00000274140.5 + 26 2831 c.2699C>T c.(2698-2700)tCa>tTa p.S900L MARCH6_ENST00000503788.1_Missense_Mutation_p.S795L|MARCH6_ENST00000510792.1_Missense_Mutation_p.S598L|MARCH6_ENST00000449913.2_Missense_Mutation_p.S852L NM_005885.2 NP_005876.2 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase 900 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 AAACAAGGCTCATCTCCACCA 0.443000 23 54 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195395402 195395402 + RNA SNP C C A rs149044725 by1000genomes TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr3:195395402C>A ENST00000445430.1 + 0 809 TACGGGCGCACCTACTTGAGC 0.597000 8 102 6.31663e-08 6.75363e-08 1 1 0 ADCY3 109 broad.mit.edu 37 2 25061315 25061315 + Splice_Site SNP G G A rs139407103 byFrequency TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr2:25061315G>A ENST00000260600.5 - 7 2383 c.1533_splice c.e7+1 p.S511_splice ADCY3_ENST00000405392.1_Splice_Site_p.S144_splice NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 511 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) ggAACTCACCGAGCCATTGAG 0.547000 12 67 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 5 90 0 0 1 0 0 GGT1 2678 broad.mit.edu 37 22 25016313 25016313 + Missense_Mutation SNP T T A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr22:25016313T>A ENST00000400382.1 + 8 1156 c.401T>A c.(400-402)gTg>gAg p.V134E GGT1_ENST00000400383.1_Missense_Mutation_p.V134E|GGT1_ENST00000248923.4_Missense_Mutation_p.V134E|GGT1_ENST00000400380.1_Missense_Mutation_p.V134E|GGT1_ENST00000406383.2_Missense_Mutation_p.V134E P19440 GGT1_HUMAN gamma-glutamyltransferase 1 134 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) TCGGTGGCGGTGCCTGGGGAG 0.682000 5 40 0 0 1 0 0 POLR2B 5431 broad.mit.edu 37 4 57876368 57876368 + Splice_Site SNP T T G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr4:57876368T>G ENST00000510355.1 + 1 28 c.e1+2 POLR2B_ENST00000441246.2_Intron|POLR2B_ENST00000431623.2_Intron|POLR2B_ENST00000381227.1_Intron|POLR2B_ENST00000314595.5_Intron P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) AAGTGGCAGGTAAGTTAAAGT 0.353000 9 11 0 0 1 0 0 DNAJC2 27000 broad.mit.edu 37 7 102982244 102982244 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr7:102982244G>A ENST00000412522.1 - 2 429 c.222C>T c.(220-222)ccC>ccT p.P74P DNAJC2_ENST00000379263.3_Silent_p.P74P|DNAJC2_ENST00000249270.7_Silent_p.P74P Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 74 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 TTTTCAGCATGGGAAACTCTT 0.373000 57 115 0 0 1 0 0 TRGC2 6967 broad.mit.edu 37 7 38289117 38289117 + RNA SNP C C A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr7:38289117C>A ENST00000436911.2 - 0 56 TTTGTTTCAGCAATCGAAGGA 0.358000 104 170 1.95558e-62 2.29275e-62 1 1 0 CDYL 9425 broad.mit.edu 37 6 4892155 4892155 + Translation_Start_Site SNP A A T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr6:4892155A>T ENST00000343762.5 + 0 344 CDYL_ENST00000472453.1_Intron|CDYL_ENST00000449732.2_De_novo_Start_OutOfFrame|CDYL_ENST00000328908.5_Missense_Mutation_p.N132I|CDYL_ENST00000397588.3_Missense_Mutation_p.N78I NM_001143971.1 NP_001137443.1 Q9Y232 CDYL1_HUMAN chromodomain protein, Y-like regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1) 30 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) TCTCCCAACAATGCTAGGAAA 0.483000 41 45 0 0 1 0 0 RNPEP 6051 broad.mit.edu 37 1 201965306 201965306 + Missense_Mutation SNP G G C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr1:201965306G>C ENST00000295640.4 + 4 812 c.769G>C c.(769-771)Gat>Cat p.D257H RNPEP_ENST00000367286.3_Intron|RNPEP_ENST00000471105.1_3'UTR NM_020216.3 NP_064601.3 Q9H4A4 AMPB_HUMAN arginyl aminopeptidase (aminopeptidase B) 257 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) CTGCCTGATTGATGCTGCCAA 0.493000 58 108 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 16032716 16032716 + Missense_Mutation SNP G G T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr8:16032716G>T ENST00000350896.3 - 3 394 c.197C>A c.(196-198)cCt>cAt p.P66H MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Missense_Mutation_p.P66H|MSR1_ENST00000262101.5_Missense_Mutation_p.P66H|MSR1_ENST00000445506.2_Missense_Mutation_p.P84H|MSR1_ENST00000381998.4_Missense_Mutation_p.P66H NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 66 cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) TCCAATGAGAGGGATGAGAAC 0.413000 25 61 4.26978e-12 4.71339e-12 1 1 0 SH3BP4 23677 broad.mit.edu 37 2 235951774 235951774 + Nonsense_Mutation SNP C C A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr2:235951774C>A ENST00000409212.1 + 4 2868 c.2361C>A c.(2359-2361)tgC>tgA p.C787* SH3BP4_ENST00000392011.2_Nonsense_Mutation_p.C787*|SH3BP4_ENST00000344528.4_Nonsense_Mutation_p.C787* Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 787 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding p.C787C(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) CCTTTTTCTGCCGGGCAGAGC 0.582000 13 15 1.67942e-08 1.80697e-08 1 1 0 AMPH 273 broad.mit.edu 37 7 38431514 38431514 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr7:38431514G>A ENST00000356264.2 - 19 1928 c.1713C>T c.(1711-1713)gaC>gaT p.D571D AMPH_ENST00000428293.2_Silent_p.D529D|AMPH_ENST00000325590.5_Silent_p.D529D NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 571 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 GAGGAGCCGCGTCCTCGGTGG 0.607000 19 96 0 0 1 0 0 STPG2 285555 broad.mit.edu 37 4 98480263 98480263 + Silent SNP G G T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr4:98480263G>T ENST00000295268.3 - 11 1415 c.1326C>A c.(1324-1326)tcC>tcA p.S442S STPG2_ENST00000506482.1_Intron|RP11-681L8.1_ENST00000518105.1_RNA NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 TTTTCTCCTGGGATATCTGTT 0.279000 64 75 3.8688e-20 4.38464e-20 1 1 0 HACL1 26061 broad.mit.edu 37 3 15616518 15616518 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr3:15616518G>A ENST00000321169.5 - 10 1242 c.875C>T c.(874-876)cCt>cTt p.P292L HACL1_ENST00000435217.2_Intron|HACL1_ENST00000457447.2_Missense_Mutation_p.P266L|HACL1_ENST00000456194.2_Missense_Mutation_p.P265L|HACL1_ENST00000451445.2_Missense_Mutation_p.P210L NM_012260.2 NP_036392.2 Q9UJ83 HACL1_HUMAN 2-hydroxyacyl-CoA lyase 1 292 fatty acid alpha-oxidation peroxisomal matrix carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 16 ATATCTTGGAGGCAGTCCAAA 0.343000 18 18 0 0 1 0 0 DCUN1D2 55208 broad.mit.edu 37 13 114112358 114112358 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr13:114112358G>A ENST00000332592.3 - 5 401 c.367C>T c.(367-369)Cgc>Tgc p.R123C DCUN1D2_ENST00000478244.1_Missense_Mutation_p.R256C Q6PH85 DCNL2_HUMAN DCN1, defective in cullin neddylation 1, domain containing 2 256 DCUN1. breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1) 7 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234) AAAAGGCTGCGTTTTCCACCT 0.443000 OREG0022535 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 446 0 0 1 0 0 NMI 9111 broad.mit.edu 37 2 152135384 152135384 + Missense_Mutation SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr2:152135384T>C ENST00000243346.5 - 4 768 c.298A>G c.(298-300)Ata>Gta p.I100V NM_004688.2 NP_004679.2 Q13287 NMI_HUMAN N-myc (and STAT) interactor 100 inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter cytoplasm|nucleus nucleotide binding|protein binding|transcription cofactor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 BRCA - Breast invasive adenocarcinoma(221;0.0571) CCTTTTTGTATCTCATAAGGA 0.338000 19 51 0 0 1 0 0 FUT9 10690 broad.mit.edu 37 6 96651080 96651080 + Missense_Mutation SNP A A G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr6:96651080A>G ENST00000302103.5 + 3 375 c.49A>G c.(49-51)Att>Gtt p.I17V NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 17 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) AATTGTCTGCATTATCCTGGG 0.423000 69 119 0 0 1 0 0 ANGPTL4 51129 broad.mit.edu 37 19 8435950 8435950 + Missense_Mutation SNP G G C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr19:8435950G>C ENST00000301455.2 + 5 843 c.672G>C c.(670-672)tgG>tgC p.W224C ANGPTL4_ENST00000541807.1_Missense_Mutation_p.W57C|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.W186C NM_139314.1 NP_647475.1 Q9BY76 ANGL4_HUMAN angiopoietin-like 4 224 Fibrinogen C-terminal. angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis extracellular space|proteinaceous extracellular matrix enzyme inhibitor activity|receptor binding large_intestine(1)|lung(1)|ovary(2)|skin(2) 6 ATGGAGGCTGGACAGTAATTC 0.587000 10 16 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195395399 195395399 + RNA SNP G G A rs62287990 by1000genomes TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr3:195395399G>A ENST00000445430.1 + 0 806 GGCTACGGGCGCACCTACTTG 0.607000 8 95 0 0 1 0 0 KCTD4 386618 broad.mit.edu 37 13 45768678 45768678 + Missense_Mutation SNP C C G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr13:45768678C>G ENST00000405872.1 - 2 428 c.25G>C c.(25-27)Gaa>Caa p.E9Q GTF2F2_ENST00000340473.6_Intron|KCTD4_ENST00000379108.1_Missense_Mutation_p.E9Q NM_198404.2 NP_940686.2 Q8WVF5 KCTD4_HUMAN potassium channel tetramerization domain containing 4 9 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(1)|large_intestine(2)|lung(4) 8 Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207) TTTTCTTTTTCTCTTCTGTTT 0.388000 93 160 0 0 1 0 0 STX1A 6804 broad.mit.edu 37 7 73118115 73118115 + Missense_Mutation SNP C C G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr7:73118115C>G ENST00000222812.3 - 7 536 c.510G>C c.(508-510)gaG>gaC p.E170D STX1A_ENST00000395155.3_Missense_Mutation_p.E170D|STX1A_ENST00000395156.3_Missense_Mutation_p.E170D|STX1A_ENST00000395154.3_Missense_Mutation_p.E170D|WBSCR22_ENST00000423166.2_3'UTR NM_004603.3 NP_004594.1 Q16623 STX1A_HUMAN syntaxin 1A (brain) 170 energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome SNAP receptor activity large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(55;0.0908)|all_lung(88;0.198) GGTTCCCACTCTCCAGCATGT 0.637000 50 84 0 0 1 0 0 PAX7 5081 broad.mit.edu 37 1 18962744 18962744 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr1:18962744G>A ENST00000420770.2 + 4 548 c.465G>A c.(463-465)tcG>tcA p.S155S PAX7_ENST00000375375.3_Silent_p.S155S|PAX7_ENST00000400661.3_Silent_p.S153S NM_001135254.1 NP_001128726.1 P23759 PAX7_HUMAN paired box 7 155 Paired. anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2) 31 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) TAGTGAGTTCGATTAGCCGCG 0.522000 T FOXO1A alveolar rhabdomyosarcoma 47 100 0 0 1 0 0 CXCL6 6372 broad.mit.edu 37 4 74702557 74702557 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr4:74702557G>A ENST00000226317.5 + 1 344 c.90G>A c.(88-90)ccG>ccA p.P30P CXCL6_ENST00000515050.1_Silent_p.P30P NM_002993.3 NP_002984.1 P80162 CXCL6_HUMAN chemokine (C-X-C motif) ligand 6 30 cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding large_intestine(1)|lung(7) 8 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) TGCTGACGCCGCCGGGGCCCC 0.716000 3 56 0 0 1 0 0 CEP152 22995 broad.mit.edu 37 15 49059304 49059304 + Silent SNP A A G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr15:49059304A>G ENST00000380950.2 - 17 2420 c.2233T>C c.(2233-2235)Ttg>Ctg p.L745L CEP152_ENST00000399334.3_Silent_p.L745L|CEP152_ENST00000325747.5_Silent_p.L652L NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 745 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) CTGAGAGTCAATTCTAGATTA 0.423000 178 103 0 0 1 0 0 BTBD10 84280 broad.mit.edu 37 11 13438772 13438772 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr11:13438772C>T ENST00000278174.5 - 5 865 c.620G>A c.(619-621)cGa>cAa p.R207Q BTBD10_ENST00000530907.1_Missense_Mutation_p.R215Q|BTBD10_ENST00000528120.1_Missense_Mutation_p.R159Q NM_032320.5 NP_115696.2 Q9BSF8 BTBDA_HUMAN BTB (POZ) domain containing 10 207 BTB. nucleus cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1) 20 Epithelial(150;0.0214) CTCATTGGGTCGTGTAAAGTT 0.378000 81 155 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43885835 43885835 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr1:43885835C>T ENST00000562955.1 + 9 1102 c.1102C>T c.(1102-1104)Cgc>Tgc p.R368C NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 368 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 CTCTCAGCACCGCCTATTTAA 0.562000 4 72 0 0 1 0 0 FRA10AC1 118924 broad.mit.edu 37 10 95436422 95436422 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr10:95436422C>T ENST00000359204.4 - 12 1011 c.814G>A c.(814-816)Gat>Aat p.D272N FRA10AC1_ENST00000394100.2_Missense_Mutation_p.D272N|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.D272N|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.D272N NM_145246.4 NP_660289.2 Q70Z53 F10C1_HUMAN fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 272 nucleus protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1) 14 AGTAGAGAATCTTCAGATTTC 0.294000 14 21 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139606419 139606419 + Nonsense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr8:139606419G>A ENST00000303045.6 - 63 4902 c.4456C>T c.(4456-4458)Cag>Tag p.Q1486* COL22A1_ENST00000435777.1_Nonsense_Mutation_p.Q1466*|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1486 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGGGGCATCTGGGCCAGGAGG 0.582000 HNSCC(7;0.00092) 101 78 0 0 1 0 0 TPTE2P2 644623 broad.mit.edu 37 13 52865661 52865661 + RNA SNP C C A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr13:52865661C>A ENST00000451298.1 - 0 31 RP11-64P12.8_ENST00000606031.1_RNA AAGGATGACACAATTGAATGA 0.289000 3 31 0.004672 0.00475593 1 1 0 MTMR2 8898 broad.mit.edu 37 11 95591793 95591793 + Missense_Mutation SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr11:95591793T>C ENST00000393223.3 - 8 918 c.256A>G c.(256-258)Att>Gtt p.I86V MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000346299.5_Missense_Mutation_p.I158V|MTMR2_ENST00000409459.1_Missense_Mutation_p.I86V|MTMR2_ENST00000352297.7_Missense_Mutation_p.I86V NM_001243571.1|NM_201278.2 NP_001230500.1|NP_958435.1 Q13614 MTMR2_HUMAN myotubularin related protein 2 158 GRAM. nucleus inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AAATTCCTAATATCCTAGAAA 0.313000 61 106 0 0 1 0 0 ZAP70 7535 broad.mit.edu 37 2 98355850 98355850 + Silent SNP C C A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr2:98355850C>A ENST00000264972.5 + 14 1964 c.1749C>A c.(1747-1749)cgC>cgA p.R583R ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Silent_p.R457R|ZAP70_ENST00000451498.2_Silent_p.R276R NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 583 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 GGGAGGATCGCCCCGACTTCC 0.657000 22 41 3.62473e-10 3.95003e-10 1 1 0 MED12L 116931 broad.mit.edu 37 3 150903227 150903227 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr3:150903227G>A ENST00000474524.1 + 11 1643 c.1605G>A c.(1603-1605)agG>agA p.R535R MED12L_ENST00000309237.4_Silent_p.R535R|MED12L_ENST00000273432.4_Silent_p.R395R|MED12L_ENST00000422248.2_Silent_p.R535R NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 535 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGGAGAAGAGGCAAGCAGAAA 0.478000 20 51 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11397249 11397249 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr5:11397249G>A ENST00000304623.8 - 6 695 c.506C>T c.(505-507)cCg>cTg p.P169L CTNND2_ENST00000511377.1_Missense_Mutation_p.P78L|CTNND2_ENST00000359640.2_Missense_Mutation_p.P169L|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000458100.2_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 169 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GTAGCTGGCCGGATACTGGAA 0.587000 44 74 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179501212 179501212 + Missense_Mutation SNP C C G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr2:179501212C>G ENST00000589042.1 - 225 41466 c.41242G>C c.(41242-41244)Gtt>Ctt p.V13748L TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V12107L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V4683L|TTN_ENST00000359218.5_Missense_Mutation_p.V4808L|TTN_ENST00000342992.6_Missense_Mutation_p.V11180L|TTN_ENST00000342175.6_Missense_Mutation_p.V4875L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12107 Ig-like 93. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAAAGTTGAACATCAATGATG 0.418000 30 161 0 0 1 0 0 FOXS1 2307 broad.mit.edu 37 20 30432595 30432595 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr20:30432595G>A ENST00000375978.3 - 1 825 c.751C>T c.(751-753)Cgg>Tgg p.R251W NM_004118.3 NP_004109.1 O43638 FOXS1_HUMAN forkhead box S1 251 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 9 GCCTGCAGCCGACACTGGTAG 0.617000 13 47 0 0 1 0 0 OR3A1 4994 broad.mit.edu 37 17 3195526 3195526 + Silent SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr17:3195526C>T ENST00000323404.1 - 1 350 c.351G>A c.(349-351)ctG>ctA p.L117L RP11-64J4.2_ENST00000573491.1_RNA NM_002550.2 NP_002541.2 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, member 1 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 20 TGGCGGTCAGCAGGAAGCAGT 0.597000 40 92 0 0 1 0 0 PIK3R4 30849 broad.mit.edu 37 3 130454754 130454754 + Missense_Mutation SNP G G C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr3:130454754G>C ENST00000356763.3 - 3 1383 c.826C>G c.(826-828)Caa>Gaa p.Q276E NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 276 Protein kinase. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 TTTAGCACTTGTTCAGGGAAA 0.333000 44 182 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144779962 144779962 + Missense_Mutation SNP A A C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr6:144779962A>C ENST00000367545.3 + 19 2341 c.2341A>C c.(2341-2343)Aag>Cag p.K781Q NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 781 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) ATCAGAATGGAAGAATGTATC 0.338000 36 103 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63726517 63726517 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr7:63726517C>T ENST00000421025.1 + 5 775 c.506C>T c.(505-507)tCa>tTa p.S169L ZNF679_ENST00000255746.4_Missense_Mutation_p.S169L NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 GGCAAATTTTCAAATTCCAAT 0.313000 14 25 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21233522 21233522 + Missense_Mutation SNP A A G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr2:21233522A>G ENST00000233242.1 - 26 6345 c.6218T>C c.(6217-6219)tTt>tCt p.F2073S NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2073 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GGTCTCAAAAAATGGGAGGTT 0.358000 59 102 0 0 1 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529987 5529987 + Missense_Mutation SNP C C T rs144033515 by1000genomes TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr11:5529987C>T ENST00000311659.4 - 2 949 c.802G>A c.(802-804)Gca>Aca p.A268T HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 268 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCCTGGACTGCGTTAAGCATT 0.517000 70 136 0 0 1 0 0 AKAP12 9590 broad.mit.edu 37 6 151672560 151672560 + Missense_Mutation SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr6:151672560T>C ENST00000402676.2 + 4 3274 c.3034T>C c.(3034-3036)Tcc>Ccc p.S1012P AKAP12_ENST00000354675.6_Missense_Mutation_p.S914P|AKAP12_ENST00000253332.1_Missense_Mutation_p.S1012P|AKAP12_ENST00000359755.5_Missense_Mutation_p.S907P NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 1012 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GTTAACCGACTCCCCAGACAC 0.577000 3 77 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 3 23 0 0 1 0 0 WDR12 55759 broad.mit.edu 37 2 203745631 203745631 + Silent SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr2:203745631T>C ENST00000261015.3 - 13 1973 c.1224A>G c.(1222-1224)aaA>aaG p.K408K NM_018256.3 NP_060726.3 Q9GZL7 WDR12_HUMAN WD repeat domain 12 408 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1) 13 AGGAATACAATTTATTGTCTG 0.323000 28 23 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139905642 139905642 + Silent SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr9:139905642C>T ENST00000265662.5 - 38 6066 c.5919G>A c.(5917-5919)aaG>aaA p.K1973K ABCA2_ENST00000371605.3_Silent_p.K1972K|ABCA2_ENST00000341511.6_Silent_p.K1973K Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1972 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CCTCACCAATCTTGGCGTAGT 0.607000 34 119 0 0 1 0 0 LCP1 3936 broad.mit.edu 37 13 46721156 46721156 + Missense_Mutation SNP T T A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr13:46721156T>A ENST00000398576.2 - 13 1449 c.1061A>T c.(1060-1062)gAt>gTt p.D354V LCP1_ENST00000323076.2_Missense_Mutation_p.D354V P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 354 Actin-binding 1.|CH 2. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) TCGGACAACATCTGTGGCTGT 0.532000 T BCL6 NHL 25 59 0 0 1 0 0 CST1 1469 broad.mit.edu 37 20 23728528 23728528 + Silent SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr20:23728528C>T ENST00000304749.2 - 3 421 c.351G>A c.(349-351)ttG>ttA p.L117L CST1_ENST00000398402.1_Silent_p.L117L NM_001898.2 NP_001889.2 P01037 CYTN_HUMAN cystatin SN 117 extracellular region cysteine-type endopeptidase inhibitor activity p.L117L(1) kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1) 13 Lung NSC(19;0.0676)|all_lung(19;0.148) CGAAAGAGCACAACTGTTTCT 0.527000 5 146 0 0 1 0 0 WDR76 79968 broad.mit.edu 37 15 44143363 44143363 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr15:44143363G>A ENST00000263795.6 + 9 1181 c.1111G>A c.(1111-1113)Gcc>Acc p.A371T WDR76_ENST00000381246.2_Missense_Mutation_p.A307T NM_001167941.1|NM_024908.3 NP_001161413.1|NP_079184.2 Q9H967 WDR76_HUMAN WD repeat domain 76 371 breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2) 20 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) CTTCTCACCCGCCAATCCGGC 0.458000 9 193 0 0 1 0 0 SMR3A 26952 broad.mit.edu 37 4 71227862 71227862 + Silent SNP T T G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr4:71227862T>G ENST00000226460.4 + 2 126 c.30T>G c.(28-30)ctT>ctG p.L10L NM_012390.3 NP_036522.3 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3A 10 extracellular region endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4) 15 all_hematologic(202;0.196) TCTTGGGCCTTTGGGCTCTTG 0.338000 60 187 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214816433 214816433 + Silent SNP C C A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr1:214816433C>A ENST00000366955.3 + 12 4920 c.4752C>A c.(4750-4752)ctC>ctA p.L1584L NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 1680 2 X 96 AA approximate tandem repeats. Missing. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TTCAAGAGCTCGAGCAGTTAT 0.443000 3 95 1 1 1 1 0 ATG13 9776 broad.mit.edu 37 11 46681003 46681003 + Missense_Mutation SNP A A G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr11:46681003A>G ENST00000434074.1 + 10 1446 c.757A>G c.(757-759)Acc>Gcc p.T253A ATG13_ENST00000530500.1_Missense_Mutation_p.T174A|ATG13_ENST00000529655.1_Missense_Mutation_p.T253A|ATG13_ENST00000312040.4_Missense_Mutation_p.T253A|ATG13_ENST00000528494.1_Missense_Mutation_p.T253A|ATG13_ENST00000359513.4_Missense_Mutation_p.T253A|ATG13_ENST00000526508.1_Missense_Mutation_p.T253A|ATG13_ENST00000524625.1_Missense_Mutation_p.T253A|ATG13_ENST00000451945.1_Missense_Mutation_p.T253A NM_001205120.1 NP_001192049.1 O75143 ATG13_HUMAN autophagy related 13 253 autophagic vacuole assembly cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 15 AGAAGTGTGTACCACCTCTTT 0.433000 33 70 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123140523 123140523 + Missense_Mutation SNP A A G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr4:123140523A>G ENST00000264501.4 + 21 2649 c.2276A>G c.(2275-2277)tAt>tGt p.Y759C KIAA1109_ENST00000388738.3_Missense_Mutation_p.Y759C|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.Y759C Q2LD37 K1109_HUMAN KIAA1109 759 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GATGACATGTATATGGATTTT 0.353000 73 209 0 0 1 0 0 BICD1 636 broad.mit.edu 37 12 32480416 32480416 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr12:32480416C>T ENST00000548411.1 + 5 1208 c.1027C>T c.(1027-1029)Ctt>Ttt p.L343F BICD1_ENST00000281474.5_Missense_Mutation_p.L343F NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 343 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) AAAGGCCATTCTTTTGGCCAA 0.527000 37 93 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43907942 43907942 + Missense_Mutation SNP C C G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr1:43907942C>G ENST00000562955.1 + 56 7706 c.7706C>G c.(7705-7707)gCc>gGc p.A2569G SZT2_ENST00000372442.1_Missense_Mutation_p.A1727G NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 2626 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 CCTGTAGCTGCCAAAGCCATG 0.602000 12 35 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179597359 179597359 + Missense_Mutation SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr2:179597359T>C ENST00000589042.1 - 56 16653 c.16429A>G c.(16429-16431)Act>Gct p.T5477A TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T5160A|TTN_ENST00000342992.6_Missense_Mutation_p.T4233A|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5160 Ig-like 35. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTGAGAGGAGTAGATCCTTGG 0.468000 23 67 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37491963 37491963 + Missense_Mutation SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr22:37491963T>C ENST00000381792.2 - 5 712 c.572A>G c.(571-573)gAg>gGg p.E191G TMPRSS6_ENST00000442782.2_Missense_Mutation_p.E200G|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E191G|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E191G|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.E200G Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 200 angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 CACTAGGCCCTCGGGGTCCAC 0.647000 36 81 0 0 1 0 0 PGBD1 84547 broad.mit.edu 37 6 28264676 28264676 + Silent SNP C C G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr6:28264676C>G ENST00000405948.2 + 5 1146 c.726C>G c.(724-726)ctC>ctG p.L242L PGBD1_ENST00000259883.3_Silent_p.L242L NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 242 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 GGAGGAACCTCTGTGGGAACT 0.512000 4 80 0 0 1 0 0 ZNF513 130557 broad.mit.edu 37 2 27600997 27600997 + Silent SNP A A C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr2:27600997A>C ENST00000323703.6 - 4 1239 c.1041T>G c.(1039-1041)ggT>ggG p.G347G ZNF513_ENST00000407879.1_Silent_p.G285G|ZNF513_ENST00000491924.1_Intron NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 347 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCCACTGGCACCCCCTCCAG 0.662000 10 52 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31391868 31391868 + Missense_Mutation SNP G G T rs143612140 TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr16:31391868G>T ENST00000268296.4 + 28 3320 c.3199G>T c.(3199-3201)Gtg>Ttg p.V1067L ITGAX_ENST00000562522.1_Missense_Mutation_p.V1067L NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 1067 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 GGTGTCGGTCGTGAGTGTGGC 0.562000 21 23 1.87028e-06 1.91124e-06 1 1 0 TP53 7157 broad.mit.edu 37 17 7577141 7577141 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr17:7577141C>T ENST00000420246.2 - 8 929 c.797G>A c.(796-798)gGa>gAa p.G266E TP53_ENST00000445888.2_Missense_Mutation_p.G266E|TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000269305.4_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266E NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 266 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (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.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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) GCTGTTCCGTCCCAGTAGATT 0.517000 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) 18 38 0 0 1 0 0 IRX5 10265 broad.mit.edu 37 16 54967589 54967589 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr16:54967589G>A ENST00000394636.4 + 3 1593 c.1256G>A c.(1255-1257)gGa>gAa p.G419E IRX5_ENST00000558597.1_Missense_Mutation_p.G353E|IRX5_ENST00000560154.1_Missense_Mutation_p.G199E|IRX5_ENST00000320990.5_Missense_Mutation_p.G418E P78411 IRX5_HUMAN iroquois homeobox 5 419 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding kidney(3)|large_intestine(6)|lung(4)|prostate(1) 14 GGCTCCTTCGGACACCTTCAT 0.637000 20 79 0 0 1 0 0 LCP1 3936 broad.mit.edu 37 13 46721156 46721156 + Missense_Mutation SNP T T A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr13:46721156T>A ENST00000398576.2 - 13 1449 c.1061A>T c.(1060-1062)gAt>gTt p.D354V LCP1_ENST00000323076.2_Missense_Mutation_p.D354V P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 354 Actin-binding 1.|CH 2. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) TCGGACAACATCTGTGGCTGT 0.532000 T BCL6 NHL 25 59 0 0 1 0 0 MYL4 4635 broad.mit.edu 37 17 45291173 45291173 + Silent SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr17:45291173C>T ENST00000354968.1 + 3 272 c.144C>T c.(142-144)ttC>ttT p.F48F MYL4_ENST00000393450.1_Silent_p.F48F|MYL4_ENST00000572316.1_Silent_p.F48F NM_001002841.1 NP_001002841.1 P12829 MYL4_HUMAN myosin, light chain 4, alkali; atrial, embryonic 48 cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction A band|cytosol|muscle myosin complex actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1) 11 AGATAGACTTCACTGCCGACC 0.507000 84 150 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93956565 93956565 + Missense_Mutation SNP C C A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr6:93956565C>A ENST00000369303.4 - 15 2855 c.2671G>T c.(2671-2673)Gac>Tac p.D891Y NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 891 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity p.D891Y(1) NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) ATCATTTTGTCTAGAATTCCA 0.433000 43 110 6.4771e-29 7.02941e-29 1 1 0 SCYL1 57410 broad.mit.edu 37 11 65304218 65304218 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr11:65304218G>A ENST00000524944.1 + 13 1846 c.1813G>A c.(1813-1815)Gaa>Aaa p.E605K SCYL1_ENST00000527009.1_Missense_Mutation_p.E462K|SCYL1_ENST00000270176.5_Missense_Mutation_p.E605K|SCYL1_ENST00000525364.1_Missense_Mutation_p.E605K|SCYL1_ENST00000533862.1_Missense_Mutation_p.E605K|SCYL1_ENST00000420247.2_Missense_Mutation_p.E605K|SCYL1_ENST00000279270.6_Missense_Mutation_p.E605K|SCYL1_ENST00000527630.1_Missense_Mutation_p.E605K Q96KG9 NTKL_HUMAN SCY1-like 1 (S. cerevisiae) 605 Pro-rich. regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity ovary(1)|skin(1) 2 ACCCACGCCTGAAGGTGAGTG 0.607000 49 125 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412212 139412212 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr9:139412212C>T ENST00000277541.6 - 8 1508 c.1433G>A c.(1432-1434)tGc>tAc p.C478Y NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 478 EGF-like 12; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.C478F(2) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ACCGGGCATGCAGATGCACTG 0.672000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 104 29 0 0 1 0 0 SPOCK1 6695 broad.mit.edu 37 5 136448238 136448238 + Silent SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr5:136448238C>T ENST00000394945.1 - 5 529 c.360G>A c.(358-360)ggG>ggA p.G120G SPOCK1_ENST00000282223.7_Silent_p.G120G NM_004598.3 NP_004589.1 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 120 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGGCCACGTTCCCCTTCTTTT 0.488000 22 70 0 0 1 0 0 AXDND1 126859 broad.mit.edu 37 1 179414261 179414261 + Missense_Mutation SNP C C G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr1:179414261C>G ENST00000367618.3 + 16 2107 c.1720C>G c.(1720-1722)Cga>Gga p.R574G AXDND1_ENST00000457238.2_Missense_Mutation_p.R574G|AXDND1_ENST00000461179.2_3'UTR NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 574 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 GCCATCAGAGCGACAGTACAT 0.338000 35 67 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195404651 195404651 + RNA SNP C C G rs1996904 by1000genomes TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr3:195404651C>G ENST00000445430.1 + 0 1508 TGTCACGAATCTTGACAAATT 0.418000 4 100 0 0 1 0 0 MEIOB 254528 broad.mit.edu 37 16 1894871 1894871 + Missense_Mutation SNP G G C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr16:1894871G>C ENST00000412554.2 - 10 1066 c.872C>G c.(871-873)tCc>tGc p.S291C MEIOB_ENST00000397344.3_Missense_Mutation_p.S291C|MEIOB_ENST00000470044.1_Missense_Mutation_p.S84C|MEIOB_ENST00000452149.2_Missense_Mutation_p.S291C|MEIOB_ENST00000325962.3_Missense_Mutation_p.S291C NM_001163560.2 NP_001157032.1 meiosis specific with OB domains ACAATTTATGGATTCTTTGAA 0.308000 18 12 0 0 1 0 0 QSOX1 5768 broad.mit.edu 37 1 180155269 180155269 + Silent SNP A A G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr1:180155269A>G ENST00000367602.3 + 8 1043 c.969A>G c.(967-969)gaA>gaG p.E323E QSOX1_ENST00000367600.5_Silent_p.E323E O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 323 cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 CGGTCCTGGAAGGGCAGCGCC 0.577000 20 53 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55537622 55537622 + Missense_Mutation SNP A A G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr8:55537622A>G ENST00000220676.1 + 4 1328 c.1180A>G c.(1180-1182)Atg>Gtg p.M394V NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 394 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TGTGTCACCTATGGAGCGAAG 0.423000 29 105 0 0 1 0 0 OR5L1 219437 broad.mit.edu 37 11 55579760 55579760 + Missense_Mutation SNP T T G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr11:55579760T>G ENST00000333973.2 + 1 907 c.818T>G c.(817-819)gTg>gGg p.V273G NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) GCTGACAAAGTGGCCACCGTG 0.473000 33 70 0 0 1 0 0 KCTD3 51133 broad.mit.edu 37 1 215777507 215777507 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr1:215777507G>A ENST00000259154.4 + 13 1466 c.1172G>A c.(1171-1173)gGt>gAt p.G391D NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 391 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) ATCGCCTATGGTACGAGCTCT 0.453000 33 86 0 0 1 0 0 AGMO 392636 broad.mit.edu 37 7 15601453 15601453 + Silent SNP G G T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr7:15601453G>T ENST00000342526.3 - 1 187 c.18C>A c.(16-18)gcC>gcA p.A6A NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 6 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 CATCCTGCTGGGCTTCTGGGT 0.443000 35 150 2.68265e-12 2.82384e-12 1 1 0 RSPO2 340419 broad.mit.edu 37 8 108972911 108972911 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr8:108972911C>T ENST00000276659.5 - 4 1038 c.418G>A c.(418-420)Gaa>Aaa p.E140K RSPO2_ENST00000517781.1_Missense_Mutation_p.E77K|RSPO2_ENST00000517939.1_Missense_Mutation_p.E73K|RSPO2_ENST00000378439.2_Missense_Mutation_p.E77K NM_178565.4 NP_848660.3 Q6UXX9 RSPO2_HUMAN R-spondin 2 140 Wnt receptor signaling pathway extracellular region heparin binding EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) CCCACACATTCCATGGTTTCT 0.348000 22 149 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47630398 47630398 + Missense_Mutation SNP G G C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr20:47630398G>C ENST00000371917.4 + 30 4080 c.4080G>C c.(4078-4080)aaG>aaC p.K1360N NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1360 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) AGATCATGAAGAGCTATGGCC 0.473000 42 153 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 468941 468941 + Missense_Mutation SNP C C A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr10:468941C>A ENST00000280886.6 - 5 514 c.427G>T c.(427-429)Gtg>Ttg p.V143L DIP2C_ENST00000381496.3_Missense_Mutation_p.V36L NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 143 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TCCCCCTGCACTGAGCCTTCA 0.562000 58 128 7.10663e-31 7.77287e-31 1 1 0 ATG4D 84971 broad.mit.edu 37 19 10655726 10655726 + Missense_Mutation SNP C C G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr19:10655726C>G ENST00000309469.4 + 3 586 c.413C>G c.(412-414)tCg>tGg p.S138W ATG4D_ENST00000540862.1_5'UTR NM_032885.4 NP_116274.3 Q86TL0 ATG4D_HUMAN autophagy related 4D, cysteine peptidase 138 autophagy|protein transport cytoplasm cysteine-type endopeptidase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 19 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) TGCCTGACCTCGGACTGTGGC 0.632000 18 266 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58557303 58557303 + Missense_Mutation SNP A A T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr16:58557303A>T ENST00000317147.5 - 47 7220 c.6888T>A c.(6886-6888)aaT>aaA p.N2296K CNOT1_ENST00000569240.1_Missense_Mutation_p.N2291K|CNOT1_ENST00000245138.4_Missense_Mutation_p.N1147K NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 2296 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TGGCTTCCGTATTGGCCTCTG 0.413000 35 164 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153906274 153906274 + Silent SNP C C G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr1:153906274C>G ENST00000361217.4 - 20 3433 c.3015G>C c.(3013-3015)ctG>ctC p.L1005L NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 1005 NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CTGTCAGGCTCAGGTCTGAGA 0.642000 13 14 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152277201 152277201 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr1:152277201G>A ENST00000368799.1 - 3 10196 c.10161C>T c.(10159-10161)ctC>ctT p.L3387L FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3387 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCACCTGGTAGAGGAAAGACC 0.612000 Ichthyosis 201 385 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121207907 121207907 + Missense_Mutation SNP G G C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr3:121207907G>C ENST00000264233.5 - 16 3999 c.3871C>G c.(3871-3873)Cta>Gta p.L1291V NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1291 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TTTTCTTGTAGTCTAGAAATA 0.333000 DNA polymerases (catalytic subunits) 64 200 0 0 1 0 0 ZNF184 7738 broad.mit.edu 37 6 27420364 27420364 + Missense_Mutation SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr6:27420364T>C ENST00000211936.6 - 6 1258 c.974A>G c.(973-975)cAg>cGg p.Q325R ZNF184_ENST00000377419.1_Missense_Mutation_p.Q325R NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 ATGAATTCTCTGATGCTGAAC 0.403000 32 42 0 0 1 0 0 TRAF3IP2 10758 broad.mit.edu 37 6 111912597 111912597 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr6:111912597G>A ENST00000368761.5 - 2 1171 c.693C>T c.(691-693)ctC>ctT p.L231L TRAF3IP2_ENST00000359831.4_Silent_p.L231L|TRAF3IP2_ENST00000340026.6_Silent_p.L240L|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000392556.4_5'UTR NM_001164281.2|NM_147686.3 NP_001157753.1|NP_679211.2 O43734 CIKS_HUMAN TRAF3 interacting protein 2 240 intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 18 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) CCCTGGACCTGAGAGGTCTGG 0.572000 62 99 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66204885 66204885 + Missense_Mutation SNP C C A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr6:66204885C>A ENST00000503581.1 - 4 956 c.419G>T c.(418-420)tGg>tTg p.W140L EYS_ENST00000370618.3_Missense_Mutation_p.W140L|EYS_ENST00000370621.3_Missense_Mutation_p.W140L|EYS_ENST00000393380.2_Missense_Mutation_p.W140L|EYS_ENST00000370616.2_Missense_Mutation_p.W140L|EYS_ENST00000342421.5_Missense_Mutation_p.W140L NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 140 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 AACACTCAGCCACTTAGAATT 0.423000 39 79 6.97489e-18 7.39761e-18 1 1 0 CPAMD8 27151 broad.mit.edu 37 19 17088291 17088291 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr19:17088291C>T ENST00000443236.1 - 15 1817 c.1786G>A c.(1786-1788)Gtg>Atg p.V596M CPAMD8_ENST00000388925.4_Intron NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 549 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CTGGGGGTCACGGCCAGATGA 0.592000 29 51 0 0 1 0 0 WBP11 51729 broad.mit.edu 37 12 14946725 14946725 + Missense_Mutation SNP C C T rs150908147 TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr12:14946725C>T ENST00000261167.2 - 8 1086 c.853G>A c.(853-855)Ggg>Agg p.G285R WBP11_ENST00000537574.1_Missense_Mutation_p.G285R NM_016312.2 NP_057396.1 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 285 Asp-rich. mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding p.G285W(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1) 30 AATTCATCCCCGTCACTTTCT 0.423000 128 262 0 0 1 0 0 CYP2R1 120227 broad.mit.edu 37 11 14901976 14901976 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr11:14901976C>T ENST00000334636.5 - 3 752 c.706G>A c.(706-708)Ggc>Agc p.G236S CYP2R1_ENST00000532378.1_Intron|CYP2R1_ENST00000526489.1_5'UTR NM_024514.4 NP_078790.2 Q6VVX0 CP2R1_HUMAN cytochrome P450, family 2, subfamily R, polypeptide 1 236 hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Cholecalciferol(DB00169)|Ergocalciferol(DB00153) GGCAGGATGCCAATCCATGGA 0.398000 31 83 0 0 1 0 0 SOBP 55084 broad.mit.edu 37 6 107955178 107955178 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr6:107955178G>A ENST00000317357.5 + 6 1789 c.1130G>A c.(1129-1131)gGc>gAc p.G377D NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 377 Pro-rich. metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) CCTCCCCTTGGCGTCCCGCCT 0.647000 47 97 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49428450 49428450 + Splice_Site SNP C C G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr12:49428450C>G ENST00000301067.7 - 36 10355 c.e36-1 NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CACTTGCTGTCTGGAGTCCAC 0.547000 7 27 0 0 1 0 0 CACNB2 783 broad.mit.edu 37 10 18629869 18629869 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr10:18629869G>A ENST00000377329.4 + 1 204 c.14G>A c.(13-15)cGc>cAc p.R5H CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000324631.7_Intron|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000396576.2_Intron|CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000282343.8_Intron NM_201590.2 NP_963884.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 0 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CTTGACAGACGCCTTATAGCT 0.478000 48 120 0 0 1 0 0 ZSCAN22 342945 broad.mit.edu 37 19 58850657 58850657 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr19:58850657G>A ENST00000329665.4 + 3 1588 c.1441G>A c.(1441-1443)Gtt>Att p.V481I NM_181846.2 NP_862829.1 P10073 ZSC22_HUMAN zinc finger and SCAN domain containing 22 481 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2) 16 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289) AGCCCTGATGGTTCACTTGCG 0.587000 28 44 0 0 1 0 0 EPHA10 284656 broad.mit.edu 37 1 38181550 38181550 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr1:38181550G>A ENST00000330210.7 - 14 1939 c.1626C>T c.(1624-1626)tgC>tgT p.C542C EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_3'UTR|EPHA10_ENST00000540011.1_3'UTR Q5JZY3 EPHAA_HUMAN EPH receptor A10 0 Fibronectin type-III 2. extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GATCTCAGACGCAGATTCTGG 0.557000 18 43 0 0 1 0 0 PHF2 5253 broad.mit.edu 37 9 96437264 96437264 + Missense_Mutation SNP G G C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr9:96437264G>C ENST00000359246.4 + 19 3049 c.2682G>C c.(2680-2682)aaG>aaC p.K894N PHF2_ENST00000375376.4_Missense_Mutation_p.K125N NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 894 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) CCCGGTCGAAGAAAAGGAAAG 0.582000 17 94 0 0 1 0 0 TBX20 57057 broad.mit.edu 37 7 35242348 35242348 + Silent SNP G G C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr7:35242348G>C ENST00000408931.3 - 8 1564 c.1038C>G c.(1036-1038)ctC>ctG p.L346L NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 346 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 CCCAGGAGCTGAGAGACAAAT 0.438000 3 18 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122645415 122645415 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr3:122645415G>A ENST00000195173.4 - 9 1263 c.960C>T c.(958-960)cgC>cgT p.R320R SEMA5B_ENST00000357599.3_Silent_p.R320R|SEMA5B_ENST00000451055.2_Silent_p.R374R Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 320 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) TCTTGCACACGCGGGCCACGC 0.617000 19 58 0 0 1 0 0 MEIS1 4211 broad.mit.edu 37 2 66739354 66739354 + Silent SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr2:66739354T>C ENST00000488550.1 + 8 1115 c.816T>C c.(814-816)cgT>cgC p.R272R MEIS1_ENST00000409517.1_Intron|MEIS1_ENST00000444274.2_Intron|MEIS1_ENST00000560281.2_Silent_p.R272R|MEIS1_ENST00000495021.2_Silent_p.R207R|MEIS1_ENST00000272369.9_Silent_p.R272R|MEIS1_ENST00000407092.2_Silent_p.R272R|MEIS1_ENST00000398506.2_Silent_p.R270R O00470 MEIS1_HUMAN Meis homeobox 1 272 R -> H (found in a patient with susceptibility to restless legs syndrome; also found in unaffected persons, although very rare; dbSNP:rs61752693). sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 24 ACAAAAAGCGTCACAAAAAGC 0.438000 16 14 0 0 1 0 0 MROH1 727957 broad.mit.edu 37 8 145223234 145223234 + Missense_Mutation SNP A A G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr8:145223234A>G ENST00000528919.1 + 3 180 c.59A>G c.(58-60)aAg>aGg p.K20R MROH1_ENST00000423230.2_Missense_Mutation_p.K20R|MROH1_ENST00000534366.1_Missense_Mutation_p.K20R|MROH1_ENST00000398656.4_Missense_Mutation_p.K20R|MROH1_ENST00000326134.5_Missense_Mutation_p.K20R NM_032450.2 NP_115826.2 maestro heat-like repeat family member 1 ATCACCGATAAGGACCCCCTG 0.667000 28 31 0 0 1 0 0 PON3 5446 broad.mit.edu 37 7 95019514 95019514 + Silent SNP G G C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr7:95019514G>C ENST00000265627.5 - 3 163 c.153C>G c.(151-153)ggC>ggG p.G51G PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Silent_p.G51G|PON3_ENST00000475439.1_5'UTR NM_000940.2 NP_000931.1 paraoxonase 3 breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 24 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) TATCTTCAGAGCCACTTTCTG 0.378000 101 225 0 0 1 0 0 SYNCRIP 10492 broad.mit.edu 37 6 86328538 86328538 + Silent SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr6:86328538T>C ENST00000355238.6 - 10 1484 c.1278A>G c.(1276-1278)caA>caG p.Q426Q SYNCRIP_ENST00000369622.3_Silent_p.Q426Q NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 426 Interaction with APOBEC1. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) TCACTCACATTTGATTTTTTG 0.308000 7 19 0 0 1 0 0 HHIPL2 79802 broad.mit.edu 37 1 222717416 222717416 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr1:222717416G>A ENST00000343410.6 - 2 495 c.437C>T c.(436-438)tCa>tTa p.S146L NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 146 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) GGAAATGGCTGAGTGACAGTT 0.587000 70 142 0 0 1 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6077129 6077129 + Missense_Mutation SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr7:6077129T>C ENST00000199389.6 - 11 1404 c.1258A>G c.(1258-1260)Aca>Gca p.T420A EIF2AK1_ENST00000536084.1_Missense_Mutation_p.T296A NM_001134335.1|NM_014413.3 NP_001127807.1|NP_055228.2 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha kinase 1 420 Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) AAAATTTTTGTTGCAACATTG 0.323000 58 173 0 0 1 0 0 RPS25 6230 broad.mit.edu 37 11 118888677 118888677 + Silent SNP G G A rs3209457 TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr11:118888677G>A ENST00000527673.1 - 2 495 c.90C>T c.(88-90)gcC>gcT p.A30A RPS25_ENST00000528547.1_5'UTR NM_001028.2 NP_001019.1 P62851 RS25_HUMAN ribosomal protein S25 30 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding|RNA binding endometrium(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) CCTTCTTTTTGGCCTTGCCCC 0.468000 63 128 0 0 1 0 0 SORBS1 10580 broad.mit.edu 37 10 97174295 97174295 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr10:97174295G>A ENST00000371247.2 - 9 955 c.766C>T c.(766-768)Cgc>Tgc p.R256C SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371249.2_Missense_Mutation_p.R224C|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.R256C|SORBS1_ENST00000353505.5_Missense_Mutation_p.R187C|SORBS1_ENST00000393949.1_Missense_Mutation_p.R247C|SORBS1_ENST00000371245.3_Missense_Mutation_p.R187C|SORBS1_ENST00000354106.3_Missense_Mutation_p.R247C|SORBS1_ENST00000371227.4_Missense_Mutation_p.R256C|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.R256C|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000277982.5_Missense_Mutation_p.R256C|SORBS1_ENST00000371239.1_Intron Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 256 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) GAGACTCTGCGGAGGTCCTCC 0.637000 24 58 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76464798 76464798 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr17:76464798G>A ENST00000389840.5 - 55 8761 c.8637C>T c.(8635-8637)atC>atT p.I2879I DNAH17_ENST00000585328.1_Silent_p.I2888I|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TGGAGGAGATGATGTTCTCCA 0.537000 28 61 0 0 1 0 0 EPS8L3 79574 broad.mit.edu 37 1 110294291 110294291 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr1:110294291G>A ENST00000369805.3 - 16 1780 c.1551C>T c.(1549-1551)ggC>ggT p.G517G RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Silent_p.G486G|EPS8L3_ENST00000361965.4_Silent_p.G516G NM_133181.3|NM_139053.2 NP_573444.2|NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8-like 3 516 cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) AGGGTGACTGGCCCTGGGTCC 0.622000 33 44 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76754297 76754297 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr18:76754297C>T ENST00000536229.3 + 1 2616 c.1907C>T c.(1906-1908)aCg>aTg p.T636M SALL3_ENST00000537592.2_Missense_Mutation_p.T769M|SALL3_ENST00000575389.2_Missense_Mutation_p.T769M Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 769 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) ATCCCCAACACGCCGCTGCCG 0.637000 17 28 0 0 1 0 0 DNAJC14 85406 broad.mit.edu 37 12 56222003 56222003 + Missense_Mutation SNP T T A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr12:56222003T>A ENST00000357606.3 - 3 729 c.440A>T c.(439-441)aAt>aTt p.N147I DNAJC14_ENST00000317269.3_Missense_Mutation_p.N147I|DNAJC14_ENST00000317287.5_Missense_Mutation_p.N147I Q6Y2X3 DJC14_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 14 147 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1) 23 AGAAGAACCATTTCCTCCCTC 0.483000 91 161 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153905961 153905961 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr1:153905961C>T ENST00000361217.4 - 20 3746 c.3328G>A c.(3328-3330)Gag>Aag p.E1110K NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 1110 Ser-rich. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CTGGCTACCTCGGAGGCAGTG 0.647000 10 19 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48845609 48845609 + Missense_Mutation SNP G G C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr8:48845609G>C ENST00000314191.2 - 16 1803 c.1747C>G c.(1747-1749)Ctt>Gtt p.L583V PRKDC_ENST00000338368.3_Missense_Mutation_p.L583V|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 583 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TGTATTTCAAGTGTAAGATCC 0.299000 Non-homologous end-joining 8 28 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 6 59 0 0 1 0 0 DCLK1 9201 broad.mit.edu 37 13 36700037 36700037 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr13:36700037G>A ENST00000255448.4 - 2 449 c.238C>T c.(238-240)Cgg>Tgg p.R80W DCLK1_ENST00000360631.3_Missense_Mutation_p.R80W|DCLK1_ENST00000379892.4_Missense_Mutation_p.R80W NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 80 Doublecortin 1. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) GATCGGAACCGGTCTGGGGAG 0.507000 40 122 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93956564 93956564 + Missense_Mutation SNP T T A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr6:93956564T>A ENST00000369303.4 - 15 2856 c.2672A>T c.(2671-2673)gAc>gTc p.D891V NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 891 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) AATCATTTTGTCTAGAATTCC 0.433000 44 112 0 0 1 0 0 CDAN1 146059 broad.mit.edu 37 15 43027800 43027800 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr15:43027800C>T ENST00000356231.3 - 4 874 c.851G>A c.(850-852)gGa>gAa p.G284E NM_138477.2 NP_612486.2 Q8IWY9 CDAN1_HUMAN codanin 1 284 integral to membrane protein binding endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 24 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) TGTGAGGCTTCCTGTCCGGCT 0.572000 62 30 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225662626 225662626 + Missense_Mutation SNP T T A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr2:225662626T>A ENST00000409592.3 - 42 4662 c.4549A>T c.(4549-4551)Atg>Ttg p.M1517L DOCK10_ENST00000258390.7_Missense_Mutation_p.M1523L Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1523 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) AAAAAGAGCATGTAGGTATCA 0.408000 51 58 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 8 184 0 0 1 0 0 MAL 4118 broad.mit.edu 37 2 95713749 95713749 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr2:95713749C>T ENST00000309988.4 + 2 248 c.139C>T c.(139-141)Ccc>Tcc p.P47S MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Missense_Mutation_p.P47S|MAL_ENST00000354078.3_Intron NM_002371.3 NP_002362.1 P21145 MAL_HUMAN mal, T-cell differentiation protein 47 MARVEL. apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2) 10 STAD - Stomach adenocarcinoma(1183;0.18) CTCCCTGGTGCCCTGGCCCCT 0.632000 37 82 0 0 1 0 0 PLA2G3 50487 broad.mit.edu 37 22 31534395 31534395 + Splice_Site SNP A A G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr22:31534395A>G ENST00000215885.3 - 3 901 c.647_splice c.e3-1 p.F217_splice NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 217 Phospholipase A2-like. cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 CATTGCTGAAACCTGCCCCAG 0.602000 11 51 0 0 1 0 0 SLC27A6 28965 broad.mit.edu 37 5 128365282 128365282 + Missense_Mutation SNP G G C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr5:128365282G>C ENST00000262462.4 + 9 2575 c.1565G>C c.(1564-1566)aGa>aCa p.R522T SLC27A6_ENST00000395266.1_Missense_Mutation_p.R522T|SLC27A6_ENST00000506176.1_Missense_Mutation_p.R522T Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 522 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) TATGAAGGAAGAGCAGGAATG 0.303000 23 67 0 0 1 0 0 SLC9A3R2 9351 broad.mit.edu 37 16 2086358 2086358 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr16:2086358C>T ENST00000424542.2 + 3 586 c.448C>T c.(448-450)Cgg>Tgg p.R150W SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.R150W|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.R44W|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.R39W|SLC9A3R2_ENST00000565086.1_3'UTR NM_001130012.2|NM_004785.5 NP_001123484.1|NP_004776.3 Q15599 NHRF2_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2 150 PDZ 2. protein complex assembly apical plasma membrane|endomembrane system|nucleus beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding central_nervous_system(1)|endometrium(1) 2 GCTGCGCCCTCGGCTCTGCCA 0.667000 10 11 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508487 37508487 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr10:37508487C>T ENST00000374660.1 + 40 4135 c.4036C>T c.(4036-4038)Cat>Tat p.H1346Y ANKRD30A_ENST00000602533.1_Missense_Mutation_p.H1227Y|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H1227Y Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1283 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.H1227D(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GGTTTCAGAACATGCACAAAG 0.373000 19 51 0 0 1 0 0 MARCH6 10299 broad.mit.edu 37 5 10433762 10433762 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr5:10433762C>T ENST00000274140.5 + 26 2831 c.2699C>T c.(2698-2700)tCa>tTa p.S900L MARCH6_ENST00000449913.2_Missense_Mutation_p.S852L|MARCH6_ENST00000503788.1_Missense_Mutation_p.S795L|MARCH6_ENST00000510792.1_Missense_Mutation_p.S598L NM_005885.2 NP_005876.2 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase 900 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 AAACAAGGCTCATCTCCACCA 0.443000 23 54 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579521 7579521 + Nonsense_Mutation SNP C C A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr17:7579521C>A ENST00000420246.2 - 4 298 c.166G>T c.(166-168)Gaa>Taa p.E56* TP53_ENST00000445888.2_Nonsense_Mutation_p.E56*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E56*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E56*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E56*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E56* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 56 Interaction with HRMT1L2. E -> K (in sporadic cancers; somatic mutation).|E -> V (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.0?(8)|p.E56*(7)|p.E56K(3)|p.E56fs*73(3)|p.E51fs*59(1)|p.Q52fs*67(1)|p.D48fs*55(1)|p.E56fs*67(1)|p.P13fs*18(1)|p.S33fs*23(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) CCTGGGTCTTCAGTGAACCAT 0.597000 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) 85 197 9.01214e-43 9.93464e-43 1 1 0 ADCY3 109 broad.mit.edu 37 2 25061315 25061315 + Splice_Site SNP G G A rs139407103 byFrequency TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr2:25061315G>A ENST00000260600.5 - 7 2383 c.1533_splice c.e7+1 p.S511_splice ADCY3_ENST00000405392.1_Splice_Site_p.S144_splice NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 511 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) ggAACTCACCGAGCCATTGAG 0.547000 12 67 0 0 1 0 0 GGT1 2678 broad.mit.edu 37 22 25016313 25016313 + Missense_Mutation SNP T T A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr22:25016313T>A ENST00000400382.1 + 8 1156 c.401T>A c.(400-402)gTg>gAg p.V134E GGT1_ENST00000400380.1_Missense_Mutation_p.V134E|GGT1_ENST00000400383.1_Missense_Mutation_p.V134E|GGT1_ENST00000248923.4_Missense_Mutation_p.V134E|GGT1_ENST00000406383.2_Missense_Mutation_p.V134E P19440 GGT1_HUMAN gamma-glutamyltransferase 1 134 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) TCGGTGGCGGTGCCTGGGGAG 0.682000 5 40 0 0 1 0 0 DNAJC2 27000 broad.mit.edu 37 7 102982244 102982244 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr7:102982244G>A ENST00000412522.1 - 2 429 c.222C>T c.(220-222)ccC>ccT p.P74P DNAJC2_ENST00000249270.7_Silent_p.P74P|DNAJC2_ENST00000379263.3_Silent_p.P74P Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 74 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 TTTTCAGCATGGGAAACTCTT 0.373000 57 115 0 0 1 0 0 CDH1 999 broad.mit.edu 37 16 68849489 68849489 + Silent SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr16:68849489C>T ENST00000261769.5 + 10 1583 c.1392C>T c.(1390-1392)gtC>gtT p.V464V CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Silent_p.V403V NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 464 Cadherin 3. adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(1) NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) CTTTTGAGGTCTCTCTCACCA 0.498000 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 69 66 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139905642 139905642 + Silent SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr9:139905642C>T ENST00000265662.5 - 38 6066 c.5919G>A c.(5917-5919)aaG>aaA p.K1973K ABCA2_ENST00000371605.3_Silent_p.K1972K|ABCA2_ENST00000341511.6_Silent_p.K1973K Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1972 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CCTCACCAATCTTGGCGTAGT 0.607000 34 119 0 0 1 0 0 CDYL 9425 broad.mit.edu 37 6 4892155 4892155 + Translation_Start_Site SNP A A T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr6:4892155A>T ENST00000343762.5 + 0 344 CDYL_ENST00000472453.1_Intron|CDYL_ENST00000397588.3_Missense_Mutation_p.N78I|CDYL_ENST00000449732.2_De_novo_Start_OutOfFrame|CDYL_ENST00000328908.5_Missense_Mutation_p.N132I NM_001143971.1 NP_001137443.1 Q9Y232 CDYL1_HUMAN chromodomain protein, Y-like regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1) 30 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) TCTCCCAACAATGCTAGGAAA 0.483000 41 45 0 0 1 0 0 RNPEP 6051 broad.mit.edu 37 1 201965306 201965306 + Missense_Mutation SNP G G C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr1:201965306G>C ENST00000295640.4 + 4 812 c.769G>C c.(769-771)Gat>Cat p.D257H RNPEP_ENST00000367286.3_Intron|RNPEP_ENST00000471105.1_3'UTR NM_020216.3 NP_064601.3 Q9H4A4 AMPB_HUMAN arginyl aminopeptidase (aminopeptidase B) 257 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) CTGCCTGATTGATGCTGCCAA 0.493000 58 108 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 16032716 16032716 + Missense_Mutation SNP G G T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr8:16032716G>T ENST00000350896.3 - 3 394 c.197C>A c.(196-198)cCt>cAt p.P66H MSR1_ENST00000381998.4_Missense_Mutation_p.P66H|MSR1_ENST00000262101.5_Missense_Mutation_p.P66H|MSR1_ENST00000445506.2_Missense_Mutation_p.P84H|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Missense_Mutation_p.P66H NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 66 cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) TCCAATGAGAGGGATGAGAAC 0.413000 25 61 4.26978e-12 4.46096e-12 1 1 0 SH3BP4 23677 broad.mit.edu 37 2 235951774 235951774 + Nonsense_Mutation SNP C C A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr2:235951774C>A ENST00000409212.1 + 4 2868 c.2361C>A c.(2359-2361)tgC>tgA p.C787* SH3BP4_ENST00000344528.4_Nonsense_Mutation_p.C787*|SH3BP4_ENST00000392011.2_Nonsense_Mutation_p.C787* Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 787 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding p.C787C(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) CCTTTTTCTGCCGGGCAGAGC 0.582000 13 15 1.67942e-08 1.72881e-08 1 1 0 AMPH 273 broad.mit.edu 37 7 38431514 38431514 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr7:38431514G>A ENST00000356264.2 - 19 1928 c.1713C>T c.(1711-1713)gaC>gaT p.D571D AMPH_ENST00000325590.5_Silent_p.D529D|AMPH_ENST00000428293.2_Silent_p.D529D NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 571 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 GAGGAGCCGCGTCCTCGGTGG 0.607000 19 96 0 0 1 0 0 STPG2 285555 broad.mit.edu 37 4 98480263 98480263 + Silent SNP G G T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr4:98480263G>T ENST00000295268.3 - 11 1415 c.1326C>A c.(1324-1326)tcC>tcA p.S442S RP11-681L8.1_ENST00000518105.1_RNA|STPG2_ENST00000506482.1_Intron NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 TTTTCTCCTGGGATATCTGTT 0.279000 64 75 3.8688e-20 4.1664e-20 1 1 0 HACL1 26061 broad.mit.edu 37 3 15616518 15616518 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr3:15616518G>A ENST00000321169.5 - 10 1242 c.875C>T c.(874-876)cCt>cTt p.P292L HACL1_ENST00000435217.2_Intron|HACL1_ENST00000457447.2_Missense_Mutation_p.P266L|HACL1_ENST00000451445.2_Missense_Mutation_p.P210L|HACL1_ENST00000456194.2_Missense_Mutation_p.P265L NM_012260.2 NP_036392.2 Q9UJ83 HACL1_HUMAN 2-hydroxyacyl-CoA lyase 1 292 fatty acid alpha-oxidation peroxisomal matrix carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 16 ATATCTTGGAGGCAGTCCAAA 0.343000 18 18 0 0 1 0 0 DCUN1D2 55208 broad.mit.edu 37 13 114112358 114112358 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr13:114112358G>A ENST00000332592.3 - 5 401 c.367C>T c.(367-369)Cgc>Tgc p.R123C DCUN1D2_ENST00000478244.1_Missense_Mutation_p.R256C Q6PH85 DCNL2_HUMAN DCN1, defective in cullin neddylation 1, domain containing 2 256 DCUN1. breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1) 7 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234) AAAAGGCTGCGTTTTCCACCT 0.443000 OREG0022535 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 446 0 0 1 0 0 NMI 9111 broad.mit.edu 37 2 152135384 152135384 + Missense_Mutation SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr2:152135384T>C ENST00000243346.5 - 4 768 c.298A>G c.(298-300)Ata>Gta p.I100V NM_004688.2 NP_004679.2 Q13287 NMI_HUMAN N-myc (and STAT) interactor 100 inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter cytoplasm|nucleus nucleotide binding|protein binding|transcription cofactor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 BRCA - Breast invasive adenocarcinoma(221;0.0571) CCTTTTTGTATCTCATAAGGA 0.338000 19 51 0 0 1 0 0 FUT9 10690 broad.mit.edu 37 6 96651080 96651080 + Missense_Mutation SNP A A G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr6:96651080A>G ENST00000302103.5 + 3 375 c.49A>G c.(49-51)Att>Gtt p.I17V NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 17 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) AATTGTCTGCATTATCCTGGG 0.423000 69 119 0 0 1 0 0 ANGPTL4 51129 broad.mit.edu 37 19 8435950 8435950 + Missense_Mutation SNP G G C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr19:8435950G>C ENST00000301455.2 + 5 843 c.672G>C c.(670-672)tgG>tgC p.W224C ANGPTL4_ENST00000393962.2_Missense_Mutation_p.W186C|ANGPTL4_ENST00000541807.1_Missense_Mutation_p.W57C NM_139314.1 NP_647475.1 Q9BY76 ANGL4_HUMAN angiopoietin-like 4 224 Fibrinogen C-terminal. angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis extracellular space|proteinaceous extracellular matrix enzyme inhibitor activity|receptor binding large_intestine(1)|lung(1)|ovary(2)|skin(2) 6 ATGGAGGCTGGACAGTAATTC 0.587000 10 16 0 0 1 0 0 KCTD4 386618 broad.mit.edu 37 13 45768678 45768678 + Missense_Mutation SNP C C G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr13:45768678C>G ENST00000405872.1 - 2 428 c.25G>C c.(25-27)Gaa>Caa p.E9Q KCTD4_ENST00000379108.1_Missense_Mutation_p.E9Q|GTF2F2_ENST00000340473.6_Intron NM_198404.2 NP_940686.2 Q8WVF5 KCTD4_HUMAN potassium channel tetramerization domain containing 4 9 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(1)|large_intestine(2)|lung(4) 8 Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207) TTTTCTTTTTCTCTTCTGTTT 0.388000 93 160 0 0 1 0 0 STX1A 6804 broad.mit.edu 37 7 73118115 73118115 + Missense_Mutation SNP C C G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr7:73118115C>G ENST00000222812.3 - 7 536 c.510G>C c.(508-510)gaG>gaC p.E170D STX1A_ENST00000395156.3_Missense_Mutation_p.E170D|WBSCR22_ENST00000423166.2_3'UTR|STX1A_ENST00000395154.3_Missense_Mutation_p.E170D|STX1A_ENST00000395155.3_Missense_Mutation_p.E170D NM_004603.3 NP_004594.1 Q16623 STX1A_HUMAN syntaxin 1A (brain) 170 energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome SNAP receptor activity large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(55;0.0908)|all_lung(88;0.198) GGTTCCCACTCTCCAGCATGT 0.637000 50 84 0 0 1 0 0 PAX7 5081 broad.mit.edu 37 1 18962744 18962744 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr1:18962744G>A ENST00000420770.2 + 4 548 c.465G>A c.(463-465)tcG>tcA p.S155S PAX7_ENST00000375375.3_Silent_p.S155S|PAX7_ENST00000400661.3_Silent_p.S153S NM_001135254.1 NP_001128726.1 P23759 PAX7_HUMAN paired box 7 155 Paired. anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2) 31 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) TAGTGAGTTCGATTAGCCGCG 0.522000 T FOXO1A alveolar rhabdomyosarcoma 47 100 0 0 1 0 0 CXCL6 6372 broad.mit.edu 37 4 74702557 74702557 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr4:74702557G>A ENST00000226317.5 + 1 344 c.90G>A c.(88-90)ccG>ccA p.P30P CXCL6_ENST00000515050.1_Silent_p.P30P NM_002993.3 NP_002984.1 P80162 CXCL6_HUMAN chemokine (C-X-C motif) ligand 6 30 cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding large_intestine(1)|lung(7) 8 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) TGCTGACGCCGCCGGGGCCCC 0.716000 3 56 0 0 1 0 0 CEP152 22995 broad.mit.edu 37 15 49059304 49059304 + Silent SNP A A G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr15:49059304A>G ENST00000380950.2 - 17 2420 c.2233T>C c.(2233-2235)Ttg>Ctg p.L745L CEP152_ENST00000325747.5_Silent_p.L652L|CEP152_ENST00000399334.3_Silent_p.L745L NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 745 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) CTGAGAGTCAATTCTAGATTA 0.423000 178 103 0 0 1 0 0 BTBD10 84280 broad.mit.edu 37 11 13438772 13438772 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr11:13438772C>T ENST00000278174.5 - 5 865 c.620G>A c.(619-621)cGa>cAa p.R207Q BTBD10_ENST00000530907.1_Missense_Mutation_p.R215Q|BTBD10_ENST00000528120.1_Missense_Mutation_p.R159Q NM_032320.5 NP_115696.2 Q9BSF8 BTBDA_HUMAN BTB (POZ) domain containing 10 207 BTB. nucleus cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1) 20 Epithelial(150;0.0214) CTCATTGGGTCGTGTAAAGTT 0.378000 81 155 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43885835 43885835 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr1:43885835C>T ENST00000562955.1 + 9 1102 c.1102C>T c.(1102-1104)Cgc>Tgc p.R368C NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 368 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 CTCTCAGCACCGCCTATTTAA 0.562000 4 72 0 0 1 0 0 FRA10AC1 118924 broad.mit.edu 37 10 95436422 95436422 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr10:95436422C>T ENST00000359204.4 - 12 1011 c.814G>A c.(814-816)Gat>Aat p.D272N FRA10AC1_ENST00000394100.2_Missense_Mutation_p.D272N|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.D272N|FRA10AC1_ENST00000371430.2_Missense_Mutation_p.D272N NM_145246.4 NP_660289.2 Q70Z53 F10C1_HUMAN fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1 272 nucleus protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1) 14 AGTAGAGAATCTTCAGATTTC 0.294000 14 21 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139606419 139606419 + Nonsense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr8:139606419G>A ENST00000303045.6 - 63 4902 c.4456C>T c.(4456-4458)Cag>Tag p.Q1486* COL22A1_ENST00000435777.1_Nonsense_Mutation_p.Q1466*|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1486 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GGGGGCATCTGGGCCAGGAGG 0.582000 HNSCC(7;0.00092) 101 78 0 0 1 0 0 MTMR2 8898 broad.mit.edu 37 11 95591793 95591793 + Missense_Mutation SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr11:95591793T>C ENST00000393223.3 - 8 918 c.256A>G c.(256-258)Att>Gtt p.I86V MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000352297.7_Missense_Mutation_p.I86V|MTMR2_ENST00000409459.1_Missense_Mutation_p.I86V|MTMR2_ENST00000346299.5_Missense_Mutation_p.I158V NM_001243571.1|NM_201278.2 NP_001230500.1|NP_958435.1 Q13614 MTMR2_HUMAN myotubularin related protein 2 158 GRAM. nucleus inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AAATTCCTAATATCCTAGAAA 0.313000 61 106 0 0 1 0 0 ZAP70 7535 broad.mit.edu 37 2 98355850 98355850 + Silent SNP C C A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr2:98355850C>A ENST00000264972.5 + 14 1964 c.1749C>A c.(1747-1749)cgC>cgA p.R583R ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Silent_p.R457R|ZAP70_ENST00000451498.2_Silent_p.R276R NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 583 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 GGGAGGATCGCCCCGACTTCC 0.657000 22 41 3.62473e-10 3.75898e-10 1 1 0 CTNND2 1501 broad.mit.edu 37 5 11397249 11397249 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr5:11397249G>A ENST00000304623.8 - 6 695 c.506C>T c.(505-507)cCg>cTg p.P169L CTNND2_ENST00000511377.1_Missense_Mutation_p.P78L|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000359640.2_Missense_Mutation_p.P169L NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 169 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GTAGCTGGCCGGATACTGGAA 0.587000 44 74 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179501212 179501212 + Missense_Mutation SNP C C G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr2:179501212C>G ENST00000589042.1 - 225 41466 c.41242G>C c.(41242-41244)Gtt>Ctt p.V13748L TTN_ENST00000359218.5_Missense_Mutation_p.V4808L|TTN_ENST00000460472.2_Missense_Mutation_p.V4683L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V12107L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V11180L|TTN_ENST00000342175.6_Missense_Mutation_p.V4875L|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12107 Ig-like 93. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAAAGTTGAACATCAATGATG 0.418000 30 161 0 0 1 0 0 FOXS1 2307 broad.mit.edu 37 20 30432595 30432595 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr20:30432595G>A ENST00000375978.3 - 1 825 c.751C>T c.(751-753)Cgg>Tgg p.R251W NM_004118.3 NP_004109.1 O43638 FOXS1_HUMAN forkhead box S1 251 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 9 GCCTGCAGCCGACACTGGTAG 0.617000 13 47 0 0 1 0 0 OR3A1 4994 broad.mit.edu 37 17 3195526 3195526 + Silent SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr17:3195526C>T ENST00000323404.1 - 1 350 c.351G>A c.(349-351)ctG>ctA p.L117L RP11-64J4.2_ENST00000573491.1_RNA NM_002550.2 NP_002541.2 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, member 1 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 20 TGGCGGTCAGCAGGAAGCAGT 0.597000 40 92 0 0 1 0 0 PIK3R4 30849 broad.mit.edu 37 3 130454754 130454754 + Missense_Mutation SNP G G C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr3:130454754G>C ENST00000356763.3 - 3 1383 c.826C>G c.(826-828)Caa>Gaa p.Q276E NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 276 Protein kinase. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 TTTAGCACTTGTTCAGGGAAA 0.333000 44 182 0 0 1 0 0 PAN2 9924 broad.mit.edu 37 12 56712923 56712923 + Missense_Mutation SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr12:56712923T>C ENST00000425394.2 - 24 3701 c.3325A>G c.(3325-3327)Atg>Gtg p.M1109V PAN2_ENST00000440411.3_Missense_Mutation_p.M1105V|PAN2_ENST00000548043.1_Missense_Mutation_p.M1109V|PAN2_ENST00000549090.1_Intron|PAN2_ENST00000257931.5_Missense_Mutation_p.M1108V NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 1109 Exonuclease. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TTTCGGGGCATATGGAACAGG 0.498000 24 55 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144779962 144779962 + Missense_Mutation SNP A A C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr6:144779962A>C ENST00000367545.3 + 19 2341 c.2341A>C c.(2341-2343)Aag>Cag p.K781Q NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 781 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) ATCAGAATGGAAGAATGTATC 0.338000 36 103 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63726517 63726517 + Missense_Mutation SNP C C T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr7:63726517C>T ENST00000421025.1 + 5 775 c.506C>T c.(505-507)tCa>tTa p.S169L ZNF679_ENST00000255746.4_Missense_Mutation_p.S169L NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 GGCAAATTTTCAAATTCCAAT 0.313000 14 25 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 150903227 150903227 + Silent SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr3:150903227G>A ENST00000474524.1 + 11 1643 c.1605G>A c.(1603-1605)agG>agA p.R535R MED12L_ENST00000309237.4_Silent_p.R535R|MED12L_ENST00000273432.4_Silent_p.R395R|MED12L_ENST00000422248.2_Silent_p.R535R NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 535 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGGAGAAGAGGCAAGCAGAAA 0.478000 20 51 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21233522 21233522 + Missense_Mutation SNP A A G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr2:21233522A>G ENST00000233242.1 - 26 6345 c.6218T>C c.(6217-6219)tTt>tCt p.F2073S NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2073 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GGTCTCAAAAAATGGGAGGTT 0.358000 59 102 0 0 1 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529987 5529987 + Missense_Mutation SNP C C T rs144033515 by1000genomes TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr11:5529987C>T ENST00000311659.4 - 2 949 c.802G>A c.(802-804)Gca>Aca p.A268T HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 268 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCCTGGACTGCGTTAAGCATT 0.517000 70 136 0 0 1 0 0 AKAP12 9590 broad.mit.edu 37 6 151672560 151672560 + Missense_Mutation SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr6:151672560T>C ENST00000402676.2 + 4 3274 c.3034T>C c.(3034-3036)Tcc>Ccc p.S1012P AKAP12_ENST00000253332.1_Missense_Mutation_p.S1012P|AKAP12_ENST00000359755.5_Missense_Mutation_p.S907P|AKAP12_ENST00000354675.6_Missense_Mutation_p.S914P NM_005100.3 NP_005091.2 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 1012 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GTTAACCGACTCCCCAGACAC 0.577000 3 77 0 0 1 0 0 WDR12 55759 broad.mit.edu 37 2 203745631 203745631 + Silent SNP T T C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr2:203745631T>C ENST00000261015.3 - 13 1973 c.1224A>G c.(1222-1224)aaA>aaG p.K408K NM_018256.3 NP_060726.3 Q9GZL7 WDR12_HUMAN WD repeat domain 12 408 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1) 13 AGGAATACAATTTATTGTCTG 0.323000 28 23 0 0 1 0 0 TRGC2 6967 broad.mit.edu 37 7 38289117 38289117 + RNA SNP C C A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr7:38289117C>A ENST00000436911.2 - 0 56 TTTGTTTCAGCAATCGAAGGA 0.358000 104 170 1.95558e-62 2.17287e-62 1 1 0 WDR76 79968 broad.mit.edu 37 15 44143363 44143363 + Missense_Mutation SNP G G A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr15:44143363G>A ENST00000263795.6 + 9 1181 c.1111G>A c.(1111-1113)Gcc>Acc p.A371T WDR76_ENST00000381246.2_Missense_Mutation_p.A307T NM_001167941.1|NM_024908.3 NP_001161413.1|NP_079184.2 Q9H967 WDR76_HUMAN WD repeat domain 76 371 breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2) 20 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) CTTCTCACCCGCCAATCCGGC 0.458000 9 193 0 0 1 0 0 SMR3A 26952 broad.mit.edu 37 4 71227862 71227862 + Silent SNP T T G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr4:71227862T>G ENST00000226460.4 + 2 126 c.30T>G c.(28-30)ctT>ctG p.L10L NM_012390.3 NP_036522.3 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3A 10 extracellular region endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4) 15 all_hematologic(202;0.196) TCTTGGGCCTTTGGGCTCTTG 0.338000 60 187 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214816433 214816433 + Silent SNP C C A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr1:214816433C>A ENST00000366955.3 + 12 4920 c.4752C>A c.(4750-4752)ctC>ctA p.L1584L NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 1680 2 X 96 AA approximate tandem repeats. Missing. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TTCAAGAGCTCGAGCAGTTAT 0.443000 3 95 1 1 1 1 0 ATG13 9776 broad.mit.edu 37 11 46681003 46681003 + Missense_Mutation SNP A A G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr11:46681003A>G ENST00000434074.1 + 10 1446 c.757A>G c.(757-759)Acc>Gcc p.T253A ATG13_ENST00000312040.4_Missense_Mutation_p.T253A|ATG13_ENST00000451945.1_Missense_Mutation_p.T253A|ATG13_ENST00000359513.4_Missense_Mutation_p.T253A|ATG13_ENST00000526508.1_Missense_Mutation_p.T253A|ATG13_ENST00000529655.1_Missense_Mutation_p.T253A|ATG13_ENST00000530500.1_Missense_Mutation_p.T174A|ATG13_ENST00000524625.1_Missense_Mutation_p.T253A|ATG13_ENST00000528494.1_Missense_Mutation_p.T253A NM_001205120.1 NP_001192049.1 O75143 ATG13_HUMAN autophagy related 13 253 autophagic vacuole assembly cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 15 AGAAGTGTGTACCACCTCTTT 0.433000 33 70 0 0 1 0 0 TAS1R1 80835 broad.mit.edu 37 1 6638981 6638982 + Frame_Shift_Ins INS - - T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr1:6638981_6638982insT ENST00000333172.6 + 6 2056_2057 c.1863_1864insT c.(1861-1866)ggtcttfs p.L622fs TAS1R1_ENST00000351136.3_Frame_Shift_Ins_p.L368fs|TAS1R1_ENST00000328191.4_3'UTR NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 622 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) GCCTCTATGGCTTCTTTGGGGA 0.599 9 108 --- --- --- --- AHDC1 27245 broad.mit.edu 37 1 27874007 27874008 + Frame_Shift_Ins INS - - C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr1:27874007_27874008insC ENST00000374011.2 - 6 5587_5588 c.4619_4620insG c.(4618-4620)tccfs p.S1540fs AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Frame_Shift_Ins_p.S1540fs NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1540 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) TAAGGAGTGGGCAGCCATAGCC 0.693 15 55 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152276467 152276468 + In_Frame_Ins INS - - GGA TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr1:152276467_152276468insGGA ENST00000368799.1 - 3 10929_10930 c.10894_10895insTCC c.(10894-10896)gtc>TCCgtc p.3631_3632insS FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3631 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCTGCTGACTGCTGGTGGTGG 0.554 Ichthyosis 7 966 --- --- --- --- PRR21 643905 broad.mit.edu 37 2 240982117 240982144 + Frame_Shift_Del DEL GTGGGTGAAGAGGCATGGATGAAGGACT GTGGGTGAAGAGGCATGGATGAAGGACT - rs79839275 byFrequency TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr2:240982117_240982144delGTGGGTGAAGAGGCATGGATGAAGGACT ENST00000408934.1 - 1 255_282 c.256_283delAGTCCTTCATCCATGCCTCTTCACCCAC c.(256-285)ggfs p.SPSSMPLHPR86fs NM_001080835.1 NP_001074304.1 Q8WXC7 PRR21_HUMAN proline rich 21 86 Pro-rich. p.S88L(2)|p.S86fs*291(2) NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 29 ACGAAGGGCCGTGGGTGAAGAGGCATGGATGAAGGACTGTGGGTGAAG 0.618 26 18 --- --- --- --- USP19 10869 broad.mit.edu 37 3 49149418 49149419 + Frame_Shift_Ins INS - - T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr3:49149418_49149419insT ENST00000453664.1 - 20 3110_3111 c.2792_2793insA c.(2791-2793)tccfs p.S931fs USP19_ENST00000434032.2_Frame_Shift_Ins_p.S941fs|USP19_ENST00000417901.1_Frame_Shift_Ins_p.S943fs|USP19_ENST00000398888.2_Frame_Shift_Ins_p.S840fs|USP19_ENST00000398892.3_Frame_Shift_Ins_p.S880fs|USP19_ENST00000398896.1_Frame_Shift_Ins_p.S648fs|USP19_ENST00000398898.2_Frame_Shift_Ins_p.S880fs NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 840 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.Y928*(2) NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCAGGAAGGGGTAGCCAATGTT 0.594 7 48 --- --- --- --- RTP4 64108 broad.mit.edu 37 3 187089105 187089106 + Frame_Shift_Del DEL TG TG - TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr3:187089105_187089106delTG ENST00000259030.2 + 2 795_796 c.685_686delTG c.(685-687)tfs p.C229fs NM_022147.2 NP_071430.2 Q96DX8 RTP4_HUMAN receptor (chemosensory) transporter protein 4 229 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 all_cancers(143;4.66e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) ACTGAACATCTGTGTCTTTATT 0.421 62 63 --- --- --- --- EIF3B 8662 broad.mit.edu 37 7 2416669 2416670 + Frame_Shift_Ins INS - - G rs149919744 by1000genomes TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr7:2416669_2416670insG ENST00000360876.4 + 15 2169_2170 c.2113_2114insG c.(2113-2115)gccfs p.A705fs EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.A705fs NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 705 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) GCTGCTGTGGCGGCCCCGGCCT 0.634 18 94 --- --- --- --- NOD1 10392 broad.mit.edu 37 7 30494800 30494801 + Frame_Shift_Ins INS - - A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr7:30494800_30494801insA ENST00000222823.4 - 5 853_854 c.328_329insT c.(328-330)cccfs p.P110fs NOD1_ENST00000423334.2_Frame_Shift_Ins_p.P110fs NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 110 activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 CAGGGAAGGGGAGAAGCCGATC 0.614 25 140 --- --- --- --- AGFG2 3268 broad.mit.edu 37 7 100159920 100159921 + Frame_Shift_Ins INS - - C rs34537355 TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr7:100159920_100159921insC ENST00000300176.4 + 7 1038_1039 c.916_917insC c.(916-918)accfs p.T306fs AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR NM_006076.4 NP_006067.3 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 306 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CACTCCCCTGGCACCCGCCAGT 0.639 14 124 --- --- --- --- FAM189A2 9413 broad.mit.edu 37 9 72006640 72006641 + Frame_Shift_Ins INS - - G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr9:72006640_72006641insG ENST00000257515.8 + 11 1693_1694 c.1273_1274insG c.(1273-1275)agcfs p.S425fs FAM189A2_ENST00000303068.7_Frame_Shift_Ins_p.S260fs|FAM189A2_ENST00000377216.3_Frame_Shift_Ins_p.S212fs|FAM189A2_ENST00000455972.1_Frame_Shift_Ins_p.S425fs NM_004816.3 NP_004807.3 Q15884 F1892_HUMAN family with sequence similarity 189, member A2 425 integral to membrane endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 GGGGAGGCCCCGAGCCGAGAGG 0.668 17 69 --- --- --- --- DFNB31 25861 broad.mit.edu 37 9 117185698 117185699 + Frame_Shift_Ins INS - - C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr9:117185698_117185699insC ENST00000362057.3 - 7 1689_1690 c.1521_1522insG c.(1519-1524)caccccfs p.H507fs DFNB31_ENST00000265134.6_Frame_Shift_Ins_p.H124fs|DFNB31_ENST00000374059.3_Frame_Shift_Ins_p.H156fs NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219.3 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 507 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GGGCCTGGGGGCTGCCGCGCCT 0.639 68 243 --- --- --- --- IER5L 389792 broad.mit.edu 37 9 131939365 131939365 + Frame_Shift_Del DEL C C - TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr9:131939365delC ENST00000372491.2 - 1 1175 c.967delG c.(967-969)ccfs p.A323fs RP11-247A12.2_ENST00000372490.3_RNA|RP11-247A12.8_ENST00000599172.2_RNA NM_203434.2 NP_982258.2 Q5T953 IER5L_HUMAN immediate early response 5-like 323 Ovarian(14;0.0448)|Medulloblastoma(224;0.235) UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) gggggctcggcccccagcccg 0.721 16 15 --- --- --- --- LOC399815 399815 broad.mit.edu 37 10 124654324 124654325 + RNA INS - - GTTACTAGTTTGTAACTACACTTTTTTTTTTCAA rs144762615 by1000genomes TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr10:124654324_124654325insGTTACTAGTTTGTAACTACACTTTTTTTTTTCAA ENST00000425266.1 + 0 291 TCTCCCTTCTTGTTACTAGTTT 0.386 4 7 --- --- --- --- AMPD3 272 broad.mit.edu 37 11 10500152 10500153 + Frame_Shift_Ins INS - - C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr11:10500152_10500153insC ENST00000396554.3 + 3 669_670 c.328_329insC c.(328-330)agcfs p.S110fs AMPD3_ENST00000444303.2_Intron NM_000480.2 NP_000471.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 101 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) GGGCCCCCCGGCAGCCAGTCCG 0.589 50 190 --- --- --- --- SPTY2D1 144108 broad.mit.edu 37 11 18636375 18636376 + Frame_Shift_Ins INS - - A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr11:18636375_18636376insA ENST00000336349.5 - 3 1680_1681 c.1445_1446insT c.(1444-1446)tggfs p.W482fs NM_194285.2 NP_919261.2 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 482 Ser-rich. breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 CCGGGGGGCCCAAGCCACTCAC 0.589 16 102 --- --- --- --- TRIM51 84767 broad.mit.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr11:55653610delA ENST00000449290.2 + 3 515 c.423delA c.(421-423)ctfs p.L141fs TRIM51_ENST00000244891.3_5'UTR NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 141 intracellular zinc ion binding AGGAGCTCCTAAAAAAAATGC 0.403 19 65 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546320 11546322 + In_Frame_Del DEL TTG TTG - TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr12:11546320_11546322delTTG ENST00000389362.4 - 3 725_727 c.690_692delCAA c.(688-693)aag>aa p.NK230del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTTGGGACTTGTTGTCTCCTT 0.601 9 888 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49431260 49431264 + Frame_Shift_Del DEL CTGGG CTGGG - TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr12:49431260_49431264delCTGGG ENST00000301067.7 - 34 9874_9878 c.9875_9879delCCCAG c.(9874-9879)gfs p.AQ3292fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AAGACATGGCCTGGGCAGGGCCTGG 0.610 6 4 --- --- --- --- PARP2 10038 broad.mit.edu 37 14 20825824 20825825 + In_Frame_Ins INS - - GCG TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr14:20825824_20825825insGCG ENST00000250416.5 + 16 1647_1648 c.1620_1621insGCG c.(1618-1623)cccaag>ccGCGcaag p.540_541PK>PRK PARP2_ENST00000527915.1_3'UTR|PARP2_ENST00000429687.3_In_Frame_Ins_p.527_528PK>PRK NM_001042618.1|NM_005484.3 NP_001036083.1|NP_005475.2 Q9UGN5 PARP2_HUMAN poly (ADP-ribose) polymerase 2 540 PARP catalytic. protein ADP-ribosylation nucleolus|nucleoplasm DNA binding|NAD+ ADP-ribosyltransferase activity central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 15 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;5.34e-07)|all cancers(55;3.7e-06) GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649) CATTAGGACCAGCAAGTGACAC 0.416 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 44 128 --- --- --- --- MRPL52 122704 broad.mit.edu 37 14 23299408 23299409 + Frame_Shift_Ins INS - - G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr14:23299408_23299409insG ENST00000355151.5 + 3 132_133 c.102_103insG c.(100-105)gcccaafs p.Q35fs MRPL52_ENST00000555536.1_5'UTR|MRPL52_ENST00000461594.1_3'UTR|MRPL52_ENST00000556840.1_5'UTR|MRPL52_ENST00000432849.3_Frame_Shift_Ins_p.Q34fs|MRPL52_ENST00000397496.3_Frame_Shift_Ins_p.Q34fs|MRPL52_ENST00000553711.1_5'UTR|MRPL52_ENST00000555345.1_5'UTR|MRPL52_ENST00000557221.1_5'UTR|MRPL52_ENST00000311892.6_5'UTR|MRPL52_ENST00000397505.2_Frame_Shift_Ins_p.Q35fs NM_178336.2|NM_180982.2|NM_181306.2 NP_848026.1|NP_851313.1|NP_851823.1 Q86TS9 RM52_HUMAN mitochondrial ribosomal protein L52 35 translation mitochondrial large ribosomal subunit structural constituent of ribosome all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) AGGGACTGGCTGCCAACCCCTC 0.594 7 183 --- --- --- --- RPAP1 26015 broad.mit.edu 37 15 41814429 41814430 + Frame_Shift_Ins INS - - C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr15:41814429_41814430insC ENST00000304330.4 - 20 2877_2878 c.2761_2762insG c.(2761-2763)cccfs p.P921fs RPAP1_ENST00000561603.1_Frame_Shift_Ins_p.P921fs NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 921 Leu-rich. nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GAGTCCCGGGGCAGCCAATATG 0.569 22 45 --- --- --- --- BAIAP3 8938 broad.mit.edu 37 16 1389185 1389191 + Frame_Shift_Del DEL GCCAGCA GCCAGCA - TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr16:1389185_1389191delGCCAGCA ENST00000324385.5 + 4 503_509 c.345_351delGCCAGCA c.(343-351)tcfs p.SPA115fs BAIAP3_ENST00000426824.3_Frame_Shift_Del_p.SPA80fs|BAIAP3_ENST00000397488.2_Frame_Shift_Del_p.SPA97fs|BAIAP3_ENST00000568887.1_Frame_Shift_Del_p.SPA80fs|BAIAP3_ENST00000562208.1_Frame_Shift_Del_p.SPA80fs|BAIAP3_ENST00000421665.2_Frame_Shift_Del_p.SPA80fs|BAIAP3_ENST00000397489.1_Frame_Shift_Del_p.SPA97fs NM_003933.4 NP_003924.2 O94812 BAIP3_HUMAN BAI1-associated protein 3 115 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) GCAGTGGCTCGCCAGCACCCCCGGAGC 0.710 6 5 --- --- --- --- LAMA3 3909 broad.mit.edu 37 18 21511088 21511089 + Frame_Shift_Ins INS - - G rs1154233 by1000genomes TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr18:21511088_21511089insG ENST00000313654.9 + 65 8740_8741 c.8499_8500insG c.(8497-8502)gggcccfs p.P2834fs LAMA3_ENST00000399516.3_Frame_Shift_Ins_p.P2778fs|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Frame_Shift_Ins_p.P1169fs|LAMA3_ENST00000269217.6_Frame_Shift_Ins_p.P1225fs NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2834 Laminin G-like 3. S -> G (in dbSNP:rs1154233). cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCGATAGCGGCAGCCCAATTTT 0.411 8 191 --- --- --- --- ZNF524 147807 broad.mit.edu 37 19 56113567 56113568 + Frame_Shift_Ins INS - - C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr19:56113567_56113568insC ENST00000591046.1 + 1 323_324 c.89_90insC c.(88-90)gcgfs p.A30fs ZNF524_ENST00000301073.3_Frame_Shift_Ins_p.A30fs Q96C55 ZN524_HUMAN zinc finger protein 524 30 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(2)|lung(6)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) GTTCCCCGGGGCCGCCGAGGCC 0.683 7 55 --- --- --- --- GNAZ 2781 broad.mit.edu 37 22 23438215 23438215 + Frame_Shift_Del DEL G G - TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-10A-01D-1870-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e cebe8f62-3438-4364-8b1d-730df24ba748 g.chr22:23438215delG ENST00000248996.4 + 2 999 c.333delG c.(331-333)acfs p.T111fs RTDR1_ENST00000216036.4_Intron NM_002073.2 NP_002064.1 P19086 GNAZ_HUMAN guanine nucleotide binding protein (G protein), alpha z polypeptide 111 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) TTGCGCTGACGGGCCCCGCTG 0.687 77 166 --- --- --- --- NOC2L 26155 broad.mit.edu 37 1 880150 880151 + Frame_Shift_Ins INS - - C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr1:880150_880151insC ENST00000327044.6 - 19 2222_2223 c.2173_2174insG c.(2173-2175)cccfs p.P725fs NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog (S. cerevisiae) 725 Asp/Glu-rich (acidic). nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) CTCCCCAGGGGCCAGCCCCGCC 0.614 7 25 --- --- --- --- UBR4 23352 broad.mit.edu 37 1 19408294 19408295 + Frame_Shift_Ins INS - - C rs75559748 by1000genomes TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr1:19408294_19408295insC ENST00000375225.3 - 1 439_440 c.6_7insG c.(4-9)ggcaggfs p.R3fs UBR4_ENST00000375226.2_Intron|UBR4_ENST00000375267.2_Intron|UBR4_ENST00000375254.3_Intron|UBR4_ENST00000375217.2_Intron|UBR4_ENST00000375224.1_Intron|UBR4_ENST00000543981.1_Intron|UBR4_ENST00000429347.2_Intron Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 0 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TTCTTCCCTGGCCCCATGTCTA 0.545 5 4 --- --- --- --- AHDC1 27245 broad.mit.edu 37 1 27874007 27874008 + Frame_Shift_Ins INS - - C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr1:27874007_27874008insC ENST00000374011.2 - 6 5587_5588 c.4619_4620insG c.(4618-4620)tccfs p.S1540fs AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Frame_Shift_Ins_p.S1540fs NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1540 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) TAAGGAGTGGGCAGCCATAGCC 0.693 15 55 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145116193 145116193 + RNA DEL G G - rs66989703 TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr1:145116193delG ENST00000453618.1 + 0 1279 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding AGCACTGGCTGGGGCATTCTC 0.428 4 2 --- --- --- --- PRR21 643905 broad.mit.edu 37 2 240982117 240982144 + Frame_Shift_Del DEL GTGGGTGAAGAGGCATGGATGAAGGACT GTGGGTGAAGAGGCATGGATGAAGGACT - rs79839275 byFrequency TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr2:240982117_240982144delGTGGGTGAAGAGGCATGGATGAAGGACT ENST00000408934.1 - 1 255_282 c.256_283delAGTCCTTCATCCATGCCTCTTCACCCAC c.(256-285)ggfs p.SPSSMPLHPR86fs NM_001080835.1 NP_001074304.1 Q8WXC7 PRR21_HUMAN proline rich 21 86 Pro-rich. p.S88L(2)|p.S86fs*291(2) NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 29 ACGAAGGGCCGTGGGTGAAGAGGCATGGATGAAGGACTGTGGGTGAAG 0.618 26 18 --- --- --- --- FGD5 152273 broad.mit.edu 37 3 14861950 14861951 + Frame_Shift_Ins INS - - C TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr3:14861950_14861951insC ENST00000285046.5 + 1 1482_1483 c.1372_1373insC c.(1372-1374)gaafs p.E458fs FGD5_ENST00000543601.1_Frame_Shift_Ins_p.E217fs NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 458 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TGGTTATGGCTCGAAAGAAGAA 0.653 8 44 --- --- --- --- RTP4 64108 broad.mit.edu 37 3 187089105 187089106 + Frame_Shift_Del DEL TG TG - TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr3:187089105_187089106delTG ENST00000259030.2 + 2 795_796 c.685_686delTG c.(685-687)tfs p.C229fs NM_022147.2 NP_071430.2 Q96DX8 RTP4_HUMAN receptor (chemosensory) transporter protein 4 229 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 all_cancers(143;4.66e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) ACTGAACATCTGTGTCTTTATT 0.421 62 63 --- --- --- --- EIF3B 8662 broad.mit.edu 37 7 2416669 2416670 + Frame_Shift_Ins INS - - G rs149919744 by1000genomes TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr7:2416669_2416670insG ENST00000360876.4 + 15 2169_2170 c.2113_2114insG c.(2113-2115)gccfs p.A705fs EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.A705fs NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 705 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) GCTGCTGTGGCGGCCCCGGCCT 0.634 18 94 --- --- --- --- NOD1 10392 broad.mit.edu 37 7 30494800 30494801 + Frame_Shift_Ins INS - - A TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr7:30494800_30494801insA ENST00000222823.4 - 5 853_854 c.328_329insT c.(328-330)cccfs p.P110fs NOD1_ENST00000423334.2_Frame_Shift_Ins_p.P110fs NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 110 activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 CAGGGAAGGGGAGAAGCCGATC 0.614 25 140 --- --- --- --- AGFG2 3268 broad.mit.edu 37 7 100159920 100159921 + Frame_Shift_Ins INS - - C rs34537355 TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr7:100159920_100159921insC ENST00000300176.4 + 7 1038_1039 c.916_917insC c.(916-918)accfs p.T306fs AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_3'UTR NM_006076.4 NP_006067.3 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 306 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CACTCCCCTGGCACCCGCCAGT 0.639 14 124 --- --- --- --- LURAP1L 286343 broad.mit.edu 37 9 12775861 12775862 + In_Frame_Ins INS - - GGCGGCGGC rs3833707 by1000genomes TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr9:12775861_12775862insGGCGGCGGC ENST00000319264.3 + 1 842_843 c.147_148insGGCGGCGGC c.(145-150)gggcgg>ggGGCGGCGGCgcgg p.49_50GR>GAAAR RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR NM_203403.1 NP_981948.1 Q8IV03 CI150_HUMAN leucine rich adaptor protein 1-like 49 Gly-rich. Missing. p.G49_G50insGGG(2)|p.G50_G52delGGG(1) gcggtggtggtggcggcggcgg 0.688 3 6 --- --- --- --- CNTNAP3B 728577 broad.mit.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr9:43844265delG ENST00000377564.3 + 10 1992 c.1599delG c.(1597-1599)gcfs p.A533fs NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 533 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 AGCAGGGGGCGCTGGGGAGTT 0.542 8 32 --- --- --- --- CTSV 1515 broad.mit.edu 37 9 99797015 99797016 + Frame_Shift_Ins INS - - G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr9:99797015_99797016insG ENST00000259470.5 - 7 1146_1147 c.897_898insC c.(895-900)gtaaaafs p.VK299fs CTSV_ENST00000538255.1_Frame_Shift_Ins_p.VK299fs NM_001333.3 NP_001324.2 cathepsin V TACCTGTTTTTGACGAGCCAAT 0.381 7 179 --- --- --- --- IER5L 389792 broad.mit.edu 37 9 131939365 131939365 + Frame_Shift_Del DEL C C - TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr9:131939365delC ENST00000372491.2 - 1 1175 c.967delG c.(967-969)ccfs p.A323fs RP11-247A12.8_ENST00000599172.2_RNA|RP11-247A12.2_ENST00000372490.3_RNA NM_203434.2 NP_982258.2 Q5T953 IER5L_HUMAN immediate early response 5-like 323 Ovarian(14;0.0448)|Medulloblastoma(224;0.235) UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) gggggctcggcccccagcccg 0.721 16 15 --- --- --- --- MKI67 4288 broad.mit.edu 37 10 129902204 129902205 + Frame_Shift_Del DEL TG TG - TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr10:129902204_129902205delTG ENST00000368654.3 - 13 8274_8275 c.7899_7900delCA c.(7897-7902)caaafs p.HK2633fs MKI67_ENST00000368653.3_Frame_Shift_Del_p.HK2273fs NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2633 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GCTGGTTCTTTGTGTGTGTGTG 0.500 9 252 --- --- --- --- FRG2B 441581 broad.mit.edu 37 10 135438960 135438960 + Frame_Shift_Del DEL C C - TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr10:135438960delC ENST00000443774.1 - 4 532 c.483delG c.(481-483)agfs p.R161fs FRG2B_ENST00000425520.1_Frame_Shift_Del_p.R160fs Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 160 nucleus endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) GGGCCCGAGACCTATGCCGCT 0.557 7 417 --- --- --- --- KRTAP5-2 440021 broad.mit.edu 37 11 1619173 1619202 + In_Frame_Del DEL CCCCCACAGGAGCCACAGCCCCCCTTGGAG CCCCCACAGGAGCCACAGCCCCCCTTGGAG - rs61869706 by1000genomes TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG ENST00000412090.1 - 1 322_351 c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG c.(277-309)ggt>gg p.GSKGGCGSCGG93del KRTAP5-AS1_ENST00000424148.1_RNA NM_001004325.1 NP_001004325.1 Q701N4 KRA52_HUMAN keratin associated protein 5-2 93 6 X 4 AA repeats of C-C-X-P. keratin filament large_intestine(1)|lung(2)|skin(1) 4 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG 0.657 19 211 --- --- --- --- TRIM51 84767 broad.mit.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr11:55653610delA ENST00000449290.2 + 3 515 c.423delA c.(421-423)ctfs p.L141fs TRIM51_ENST00000244891.3_5'UTR NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 141 intracellular zinc ion binding AGGAGCTCCTAAAAAAAATGC 0.403 19 65 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49431260 49431264 + Frame_Shift_Del DEL CTGGG CTGGG - TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr12:49431260_49431264delCTGGG ENST00000301067.7 - 34 9874_9878 c.9875_9879delCCCAG c.(9874-9879)gfs p.AQ3292fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AAGACATGGCCTGGGCAGGGCCTGG 0.610 6 4 --- --- --- --- MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr12:121134166_121134168delGAA ENST00000228506.3 + 5 1125_1127 c.697_699delGAA c.(697-699)del p.E238del MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 238 Poly-Glu. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding p.E233E(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 gaaagaagaggaagaagaagaag 0.458 8 320 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086237 20086237 + RNA DEL T T - TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr14:20086237delT ENST00000548261.1 + 0 51 GGTGTGTGTGTGGGGGGGTAT 0.388 8 31 --- --- --- --- PARP2 10038 broad.mit.edu 37 14 20825824 20825825 + In_Frame_Ins INS - - GCG TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr14:20825824_20825825insGCG ENST00000250416.5 + 16 1647_1648 c.1620_1621insGCG c.(1618-1623)cccaag>ccGCGcaag p.540_541PK>PRK PARP2_ENST00000527915.1_3'UTR|PARP2_ENST00000429687.3_In_Frame_Ins_p.527_528PK>PRK NM_001042618.1|NM_005484.3 NP_001036083.1|NP_005475.2 Q9UGN5 PARP2_HUMAN poly (ADP-ribose) polymerase 2 540 PARP catalytic. protein ADP-ribosylation nucleolus|nucleoplasm DNA binding|NAD+ ADP-ribosyltransferase activity central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 15 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;5.34e-07)|all cancers(55;3.7e-06) GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649) CATTAGGACCAGCAAGTGACAC 0.416 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 44 128 --- --- --- --- MRPL52 122704 broad.mit.edu 37 14 23299408 23299409 + Frame_Shift_Ins INS - - G TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr14:23299408_23299409insG ENST00000355151.5 + 3 132_133 c.102_103insG c.(100-105)gcccaafs p.Q35fs MRPL52_ENST00000397505.2_Frame_Shift_Ins_p.Q35fs|MRPL52_ENST00000557221.1_5'UTR|MRPL52_ENST00000556840.1_5'UTR|MRPL52_ENST00000461594.1_3'UTR|MRPL52_ENST00000311892.6_5'UTR|MRPL52_ENST00000432849.3_Frame_Shift_Ins_p.Q34fs|MRPL52_ENST00000555536.1_5'UTR|MRPL52_ENST00000553711.1_5'UTR|MRPL52_ENST00000555345.1_5'UTR|MRPL52_ENST00000397496.3_Frame_Shift_Ins_p.Q34fs NM_178336.2|NM_180982.2|NM_181306.2 NP_848026.1|NP_851313.1|NP_851823.1 Q86TS9 RM52_HUMAN mitochondrial ribosomal protein L52 35 translation mitochondrial large ribosomal subunit structural constituent of ribosome all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) AGGGACTGGCTGCCAACCCCTC 0.594 7 183 --- --- --- --- SNHG10 283596 broad.mit.edu 37 14 95999677 95999677 + RNA DEL A A - TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr14:95999677delA ENST00000500370.2 - 0 766 SNHG10_ENST00000553559.1_RNA|SNHG10_ENST00000555866.1_RNA|SNHG10_ENST00000554169.1_RNA CTCAAAGTTTAAAAAAAAAAA 0.353 8 197 --- --- --- --- ULK4P3 89837 broad.mit.edu 37 15 30406088 30406089 + RNA INS - - T TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr15:30406088_30406089insT ENST00000568486.1 + 0 402 NR_026859.1 TGCCTCAAAAGTTTTTTTTTTT 0.297 10 39 --- --- --- --- ADAMTS7 11173 broad.mit.edu 37 15 79058941 79058943 + In_Frame_Del DEL CGC CGC - TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr15:79058941_79058943delCGC ENST00000388820.4 - 19 3520_3522 c.3310_3312delGCG c.(3310-3312)del p.A1104del NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1104 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CCGTGGAGGGCGCAGCAGGATGG 0.680 4 8 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32077916 32077917 + RNA INS - - TTT rs139112308 by1000genomes TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr16:32077916_32077917insTTT ENST00000566806.1 - 0 499 ATGGAAAACGGTTATTTTTTTG 0.421 3 5 --- --- --- --- COQ9 57017 broad.mit.edu 37 16 57486732 57486734 + In_Frame_Del DEL GAG GAG - rs149029279 TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr16:57486732_57486734delGAG ENST00000262507.6 + 3 331_333 c.262_264delGAG c.(262-264)del p.E91del COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567072.1_In_Frame_Del_p.E91del|COQ9_ENST00000567933.1_In_Frame_Del_p.E91del NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 91 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 CCAGGGCGGCGAGGAGGAGGAGG 0.576 7 459 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56056587 56056589 + In_Frame_Del DEL TGT TGT - TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr17:56056587_56056589delTGT ENST00000584396.1 - 5 1123_1125 c.1035_1037delACA c.(1033-1038)cat>ca p.QH345del VEZF1_ENST00000581208.1_In_Frame_Del_p.QH354del Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 354 Poly-Gln. cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 GCTTGTCACAtgttgttgttgtt 0.473 7 285 --- --- --- --- ZCCHC3 85364 broad.mit.edu 37 20 278688 278690 + In_Frame_Del DEL CGG CGG - rs63544660 TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr20:278688_278690delCGG ENST00000382352.3 + 1 952_954 c.461_463delCGG c.(460-465)ccg>c p.PA154del NM_033089.6 NP_149080.2 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 154 nucleic acid binding|zinc ion binding p.A159delA(3) endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) CAGGATGAgccggcggcggcggc 0.768 12 19 --- --- --- --- GNAZ 2781 broad.mit.edu 37 22 23438215 23438215 + Frame_Shift_Del DEL G G - TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chr22:23438215delG ENST00000248996.4 + 2 999 c.333delG c.(331-333)acfs p.T111fs RTDR1_ENST00000216036.4_Intron NM_002073.2 NP_002064.1 P19086 GNAZ_HUMAN guanine nucleotide binding protein (G protein), alpha z polypeptide 111 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) TTGCGCTGACGGGCCCCGCTG 0.687 77 166 --- --- --- --- NAP1L2 4674 broad.mit.edu 37 X 72433664 72433666 + In_Frame_Del DEL TCC TCC - TCGA-CV-5436-01A-01D-1512-08 TCGA-CV-5436-11A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34dc613e-e4b4-4897-ac4b-13ff46e46d7e fc3c7836-b5b2-453e-880f-5dee65b9f104 g.chrX:72433664_72433666delTCC ENST00000373517.3 - 1 1018_1020 c.663_665delGGA c.(661-666)gac>ga p.ED221del NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 221 Glu-rich (acidic). nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) CTCAATGTCGtcctcctcctcct 0.424 7 63 --- --- --- ---