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 MICAL2 9645 broad.mit.edu 37 11 12229646 12229646 + Silent SNP C C T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr11:12229646C>T ENST00000256194.4 + 5 837 c.549C>T c.(547-549)ttC>ttT p.F183F MICAL2_ENST00000342902.5_Silent_p.F183F|MICAL2_ENST00000527195.1_3'UTR|MICAL2_ENST00000527546.1_Silent_p.F183F|MICAL2_ENST00000379612.3_Silent_p.F183F|MICAL2_ENST00000537344.1_Silent_p.F183F NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 183 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) ATGTGGAGTTCGTGAAGGTTC 0.423000 21 174 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54951479 54951479 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chrX:54951479G>A ENST00000173898.7 + 6 1575 c.1463G>A c.(1462-1464)cGa>cAa p.R488Q TRO_ENST00000375041.2_Missense_Mutation_p.R91Q|TRO_ENST00000319167.8_Missense_Mutation_p.R488Q|TRO_ENST00000420798.2_Missense_Mutation_p.R19Q|TRO_ENST00000484031.1_3'UTR|TRO_ENST00000399736.1_Missense_Mutation_p.R91Q|TRO_ENST00000375022.4_Missense_Mutation_p.R488Q NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 488 MAGE. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 ATCATTGAACGAGCAAGCTAC 0.488000 4 34 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27950348 27950348 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr9:27950348G>A ENST00000379992.2 - 6 771 c.322C>T c.(322-324)Cgt>Tgt p.R108C LINGO2_ENST00000308675.3_Missense_Mutation_p.R108C NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 108 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) CGGAGGGAACGCAGGTTAAAG 0.438000 28 163 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141027890 141027890 + Missense_Mutation SNP T T A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr2:141027890T>A ENST00000389484.3 - 86 14139 c.13168A>T c.(13168-13170)Agc>Tgc p.S4390C NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4390 EGF-like 14. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AACTGACAGCTAGAGGCAATC 0.403000 TSP Lung(27;0.18) 7 111 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176991 140176991 + Missense_Mutation SNP C C G TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr5:140176991C>G ENST00000378132.1 + 1 2548 c.2442C>G c.(2440-2442)ttC>ttG p.F814L PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_031495.1 NP_113683.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTAAAAAATTCTATATGATTT 0.294000 8 33 0 0 1 0 0 SCNN1A 6337 broad.mit.edu 37 12 6472662 6472662 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr12:6472662G>A ENST00000358945.3 - 2 1071 c.631C>T c.(631-633)Cgg>Tgg p.R211W SCNN1A_ENST00000396966.2_Missense_Mutation_p.R211W|SCNN1A_ENST00000360168.3_Missense_Mutation_p.R270W|SCNN1A_ENST00000543768.1_Missense_Mutation_p.R234W|SCNN1A_ENST00000228916.2_Missense_Mutation_p.R211W|SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000538979.1_Intron P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 211 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) TTGTTGTCCCGCAAGCTGGAG 0.751000 4 25 0 0 1 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99129118 99129118 + Missense_Mutation SNP G G A rs141273536 TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr7:99129118G>A ENST00000394170.2 + 7 2017 c.1766G>A c.(1765-1767)cGc>cAc p.R589H ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.R589H|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.R589H NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 589 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R589H(1) breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TACAACCAACGCGTGCACCTA 0.488000 7 57 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29644357 29644357 + Missense_Mutation SNP C C T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr1:29644357C>T ENST00000323874.8 + 26 3739 c.3629C>T c.(3628-3630)cCg>cTg p.P1210L PTPRU_ENST00000345512.3_Missense_Mutation_p.P1214L|PTPRU_ENST00000460170.2_Missense_Mutation_p.P1210L|PTPRU_ENST00000428026.2_Missense_Mutation_p.P1201L|PTPRU_ENST00000373779.3_Missense_Mutation_p.P1204L|PTPRU_ENST00000356870.3_Missense_Mutation_p.P1210L Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1214 Tyrosine-protein phosphatase 2. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) GACGTCCTGCCGCCCGACCGC 0.632000 12 64 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25315595 25315595 + RNA SNP C C T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr15:25315595C>T ENST00000549804.2 + 0 678 SNHG14_ENST00000551077.1_RNA|SNORD116-8_ENST00000384365.1_RNA ATGATGAGTCCTCCAAAAAAA 0.498000 6 140 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578395 7578395 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr17:7578395G>A ENST00000420246.2 - 5 667 c.535C>T c.(535-537)Cat>Tat p.H179Y TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000269305.4_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 179 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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) CAGCGCTCATGGTGGGGGCAG 0.642000 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) 4 73 0 0 1 0 0 CLPB 81570 broad.mit.edu 37 11 72040797 72040797 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr11:72040797G>A ENST00000294053.3 - 7 1090 c.917C>T c.(916-918)gCc>gTc p.A306V CLPB_ENST00000437826.2_Missense_Mutation_p.A261V|CLPB_ENST00000538039.1_Missense_Mutation_p.A276V|CLPB_ENST00000543042.1_Missense_Mutation_p.A105V|CLPB_ENST00000340729.5_Missense_Mutation_p.A247V NM_001258394.1|NM_030813.4 NP_001245323.1|NP_110440.1 Q9H078 CLPB_HUMAN ClpB caseinolytic peptidase B homolog (E. coli) 306 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 CCCTTCTCGGGCATAATCCAA 0.512000 3 87 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57577638 57577638 + Missense_Mutation SNP G G T rs144804370 TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr12:57577638G>T ENST00000243077.3 + 36 6341 c.5875G>T c.(5875-5877)Gtg>Ttg p.V1959L NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1959 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCGTGAAGACGTGGTGACCAA 0.612000 20 90 1.33834e-09 1.61799e-09 1 1 0 HIRA 7290 broad.mit.edu 37 22 19340889 19340889 + Silent SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr22:19340889G>A ENST00000263208.5 - 23 3094 c.2838C>T c.(2836-2838)ctC>ctT p.L946L HIRA_ENST00000541063.1_Silent_p.L902L|HIRA_ENST00000340170.4_Silent_p.L739L|HIRA_ENST00000546308.1_3'UTR NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 946 Interaction with histone H4. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) CTTCGTTTACGAGGTACCGTG 0.597000 6 21 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29644358 29644358 + Silent SNP G G C TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr1:29644358G>C ENST00000323874.8 + 26 3740 c.3630G>C c.(3628-3630)ccG>ccC p.P1210P PTPRU_ENST00000345512.3_Silent_p.P1214P|PTPRU_ENST00000460170.2_Silent_p.P1210P|PTPRU_ENST00000428026.2_Silent_p.P1201P|PTPRU_ENST00000373779.3_Silent_p.P1204P|PTPRU_ENST00000356870.3_Silent_p.P1210P Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1214 Tyrosine-protein phosphatase 2. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) ACGTCCTGCCGCCCGACCGCT 0.632000 12 63 0 0 1 0 0 POLL 27343 broad.mit.edu 37 10 103345697 103345697 + Missense_Mutation SNP T T C TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr10:103345697T>C ENST00000370162.3 - 3 826 c.332A>G c.(331-333)aAg>aGg p.K111R POLL_ENST00000339310.3_Intron|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370158.3_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.K111R|POLL_ENST00000456836.2_Intron|POLL_ENST00000370172.1_Missense_Mutation_p.K23R|POLL_ENST00000299206.4_Missense_Mutation_p.K111R|POLL_ENST00000436284.2_Missense_Mutation_p.K23R|DPCD_ENST00000470165.1_Intron NM_001174084.1|NM_001174085.1|NM_013274.3 NP_001167555.1|NP_001167556.1|NP_037406.1 Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda 111 BRCT. DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) CCAGGCTGACTTCACCAGCTG 0.577000 DNA polymerases (catalytic subunits) 12 45 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125686312 125686312 + Missense_Mutation SNP G G T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chrX:125686312G>T ENST00000371126.1 - 1 522 c.280C>A c.(280-282)Ctg>Atg p.L94M NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 94 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 ACCGTGCCCAGCTCCAGTTGG 0.662000 13 34 9.31168e-06 1.07749e-05 1 1 0 GEMIN5 25929 broad.mit.edu 37 5 154278159 154278159 + Missense_Mutation SNP C C A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr5:154278159C>A ENST00000285873.7 - 23 3261 c.3186G>T c.(3184-3186)aaG>aaT p.K1062N NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 1062 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CCGCATCCCCCTTTTTGGCCA 0.453000 3 81 1 1 1 1 0 CDKN2A 1029 broad.mit.edu 37 9 21971017 21971017 + Missense_Mutation SNP G G A rs121913386 TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr9:21971017G>A ENST00000304494.5 - 2 611 c.341C>T c.(340-342)cCc>cTc p.P114L CDKN2A_ENST00000446177.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000530628.2_Silent_p.A128A|CDKN2A_ENST00000578845.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000479692.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000579122.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000498628.2_Missense_Mutation_p.P63L|CDKN2A_ENST00000361570.3_Silent_p.A169A|CDKN2A_ENST00000494262.1_Missense_Mutation_p.P63L|CDKN2A_ENST00000579755.1_Silent_p.A128A|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.P114L|CDKN2A_ENST00000497750.1_Missense_Mutation_p.P63L NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 114 P -> L (in non-small cell lung carcinoma).|P -> S (found in some patients with melanoma; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.P114L(27)|p.P114H(3)|p.H83fs*2(2)|p.V115fs*11(1)|p.0(1)|p.A68fs*3(1)|p.A169A(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CAGGTCCACGGGCAGACGGCC 0.731000 P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 8 40 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 126128668 126128668 + Missense_Mutation SNP A A G TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr12:126128668A>G ENST00000299308.3 + 6 1477 c.1469A>G c.(1468-1470)aAg>aGg p.K490R TMEM132B_ENST00000535886.1_Missense_Mutation_p.K2R NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 490 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AAGGAAATGAAGAGCAAAGTG 0.488000 11 98 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160721372 160721372 + Missense_Mutation SNP C C G TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr5:160721372C>G ENST00000274547.2 - 11 1472 c.1255G>C c.(1255-1257)Gag>Cag p.E419Q GABRB2_ENST00000353437.6_Missense_Mutation_p.E381Q|GABRB2_ENST00000520240.1_Missense_Mutation_p.E381Q|GABRB2_ENST00000517901.1_Missense_Mutation_p.E318Q|GABRB2_ENST00000393959.1_Missense_Mutation_p.E419Q|GABRB2_ENST00000517547.1_Missense_Mutation_p.E221Q NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 419 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ATCACAGCCTCAGATGTGGCC 0.478000 9 123 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25887454 25887454 + Missense_Mutation SNP C C A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr10:25887454C>A ENST00000376351.3 + 11 3258 c.2899C>A c.(2899-2901)Cca>Aca p.P967T GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 967 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TGCGGAGGAGCCAAGAAAGCC 0.458000 7 152 8.12818e-05 9.273e-05 1 1 0 SPTBN2 6712 broad.mit.edu 37 11 66473195 66473195 + Silent SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr11:66473195G>A ENST00000533211.1 - 14 2098 c.1767C>T c.(1765-1767)gcC>gcT p.A589A SPTBN2_ENST00000309996.2_Silent_p.A589A|SPTBN2_ENST00000529997.1_Silent_p.A589A O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 589 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 AGGCGCTGACGGCCCGCACCC 0.662000 5 31 0 0 1 0 0 HR 55806 broad.mit.edu 37 8 21986582 21986582 + Missense_Mutation SNP A A C TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr8:21986582A>C ENST00000381418.4 - 2 1582 c.102T>G c.(100-102)gaT>gaG p.D34E HR_ENST00000312841.8_Missense_Mutation_p.D34E NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 34 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GGTGCAGTCCATCTCGAGGCG 0.672000 12 77 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201044689 201044689 + Missense_Mutation SNP C C T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr1:201044689C>T ENST00000362061.3 - 13 2108 c.1882G>A c.(1882-1884)Ggc>Agc p.G628S CACNA1S_ENST00000367338.3_Missense_Mutation_p.G628S NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 628 G -> R (in Ref. 2; AAB37235).|YG -> SS (in Ref. 1; AAA51902). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GACGGCCCGCCGTAGGCCATG 0.547000 17 191 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196825341 196825341 + Missense_Mutation SNP C C T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr2:196825341C>T ENST00000312428.6 - 18 2634 c.2534G>A c.(2533-2535)tGt>tAt p.C845Y NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 845 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ACCAGGATTACAGATCACTTG 0.443000 21 172 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56515382 56515382 + Silent SNP G G T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr19:56515382G>T ENST00000390649.3 + 2 363 c.363G>T c.(361-363)ctG>ctT p.L121L NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 121 DAPIN. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GAGCATCGCTGGCCTGGGCTA 0.488000 3 61 1 1 1 1 0 PLIN4 729359 broad.mit.edu 37 19 4511556 4511556 + Missense_Mutation SNP C C A rs71263980 TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr19:4511556C>A ENST00000301286.3 - 3 2373 c.2374G>T c.(2374-2376)Gct>Tct p.A792S NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 792 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 ACATTCGCAGCACCGGTCACC 0.607000 5 241 1 1 1 1 0 MYH11 4629 broad.mit.edu 37 16 15812199 15812199 + Missense_Mutation SNP G G T rs139620532 TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr16:15812199G>T ENST00000338282.6 - 37 5374 c.5268C>A c.(5266-5268)agC>agA p.S1756R NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.S1763R|MYH11_ENST00000300036.5_Missense_Mutation_p.S1756R|MYH11_ENST00000576790.1_Missense_Mutation_p.S1756R|MYH11_ENST00000452625.2_Missense_Mutation_p.S1763R|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1756 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GGACCCGGTCGCTCATGGCCT 0.657000 T CBFB AML 16 88 1.37285e-15 1.72405e-15 1 1 0 CCDC147 159686 broad.mit.edu 37 10 106153149 106153149 + Silent SNP A A G TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr10:106153149A>G ENST00000369704.3 + 11 1724 c.1590A>G c.(1588-1590)aaA>aaG p.K530K NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 530 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) ATGAGCTGAAAGAAGACATCT 0.383000 4 52 0 0 1 0 0 GPATCH2 55105 broad.mit.edu 37 1 217793361 217793361 + Silent SNP C C T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr1:217793361C>T ENST00000366935.3 - 2 647 c.537G>A c.(535-537)cgG>cgA p.R179R GPATCH2_ENST00000366934.3_Silent_p.R179R NM_018040.2 NP_060510.1 Q9NW75 GPTC2_HUMAN G patch domain containing 2 179 intracellular nucleic acid binding NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1) 35 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) GGGTCATTGTCCGTTTGTTAG 0.448000 28 186 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93967234 93967234 + Silent SNP T T A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr6:93967234T>A ENST00000369303.4 - 12 2302 c.2118A>T c.(2116-2118)ccA>ccT p.P706P NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 706 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) CTATCATGACTGGTTTCCCTA 0.373000 4 63 0 0 1 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33419553 33419553 + Missense_Mutation SNP C C T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr6:33419553C>T ENST00000418600.2 + 19 4003 c.3902C>T c.(3901-3903)cCc>cTc p.P1301L SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.P1242L NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 1301 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 CAGCTTCCCCCCTTGGGTCCA 0.652000 4 24 0 0 1 0 0 GRB14 2888 broad.mit.edu 37 2 165349694 165349694 + Splice_Site SNP T T A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr2:165349694T>A ENST00000263915.3 - 14 2015 c.e14-2 GRB14_ENST00000497306.1_Splice_Site|GRB14_ENST00000543549.1_Splice_Site NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 ATCTTCTACCTGCAAAAAGAA 0.388000 3 64 0 0 1 0 0 CCDC63 160762 broad.mit.edu 37 12 111311766 111311766 + Splice_Site SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr12:111311766G>A ENST00000308208.5 + 5 731 c.e5+1 CCDC63_ENST00000552694.1_Splice_Site|CCDC63_ENST00000550317.1_Splice_Site|CCDC63_ENST00000545036.1_Splice_Site NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 TTTGAATCTCGTATGTAAAGT 0.443000 31 145 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940600 22940600 + Missense_Mutation SNP G G C TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr19:22940600G>C ENST00000397104.3 - 5 1837 c.1838C>G c.(1837-1839)cCc>cGc p.P613R ZNF99_ENST00000596209.1_Missense_Mutation_p.P704R zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) ACATTTGTAGGGTTTCTTTCC 0.373000 8 71 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11441597 11441597 + Splice_Site SNP T T A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr7:11441597T>A ENST00000423059.3 - 23 4489 c.e23-2 AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) AACAGTCACCTGTAAAACACA 0.443000 HNSCC(18;0.044) 21 114 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49724469 49724469 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr3:49724469G>A ENST00000545762.1 - 5 505 c.482C>T c.(481-483)aCc>aTc p.T161I MST1_ENST00000449682.2_Silent_p.Y213Y|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Silent_p.Y138Y P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 0 Kringle 1. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCGCGCCGCGGTATTCCTCGC 0.657000 7 100 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99764696 99764696 + Missense_Mutation SNP A A G TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr1:99764696A>G ENST00000370185.3 + 4 1141 c.644A>G c.(643-645)tAt>tGt p.Y215C LPPR4_ENST00000370184.1_Missense_Mutation_p.Y57C|LPPR4_ENST00000457765.1_Missense_Mutation_p.Y215C NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 215 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) AAACCAAACTATACCTCTCTG 0.393000 8 94 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24793592 24793592 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr14:24793592G>A ENST00000310677.4 - 16 1942 c.1829C>T c.(1828-1830)cCa>cTa p.P610L ADCY4_ENST00000418030.2_Missense_Mutation_p.P610L|ADCY4_ENST00000554068.2_Missense_Mutation_p.P610L|ADCY4_ENST00000396747.3_Missense_Mutation_p.P303L NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 610 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|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) GGCCAGAGCTGGGGGCCTGAA 0.567000 3 61 0 0 1 0 0 CA5B 11238 broad.mit.edu 37 X 15792452 15792452 + Nonsense_Mutation SNP A A T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chrX:15792452A>T ENST00000318636.3 + 5 623 c.487A>T c.(487-489)Aga>Tga p.R163* CA5B_ENST00000454127.2_Nonsense_Mutation_p.R163* NM_007220.3 NP_009151.1 Q9Y2D0 CAH5B_HUMAN carbonic anhydrase VB, mitochondrial 163 one-carbon metabolic process mitochondrion carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2) 9 Hepatocellular(33;0.183) GAACGCAGTCAGATTTGAAAA 0.403000 6 45 0 0 1 0 0 CEACAM3 1084 broad.mit.edu 37 19 42301736 42301736 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr19:42301736G>A ENST00000357396.3 + 2 521 c.280G>A c.(280-282)Gca>Aca p.A94T CEACAM3_ENST00000344550.4_Missense_Mutation_p.A94T|CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Missense_Mutation_p.A94T NM_001815.2 NP_001806.2 P40198 CEAM3_HUMAN carcinoembryonic antigen-related cell adhesion molecule 3 94 Ig-like V-type. integral to membrane p.A94T(1) endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1) 19 CCCAGGGGCCGCATACAGCGG 0.463000 5 256 0 0 1 0 0 RBBP8 5932 broad.mit.edu 37 18 20555121 20555121 + Missense_Mutation SNP G G C TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr18:20555121G>C ENST00000399722.2 + 6 718 c.367G>C c.(367-369)Gaa>Caa p.E123Q RBBP8_ENST00000360790.5_Missense_Mutation_p.E123Q|RBBP8_ENST00000327155.5_Missense_Mutation_p.E123Q|RBBP8_ENST00000399725.2_Missense_Mutation_p.E123Q NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 123 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) TTAAGTGAATGAAAGGAATAC 0.264000 Homologous recombination 5 83 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 45 0 0 1 0 0 EFNB2 1948 broad.mit.edu 37 13 107147297 107147297 + Missense_Mutation SNP C C T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr13:107147297C>T ENST00000245323.4 - 4 694 c.545G>A c.(544-546)cGt>cAt p.R182H NM_004093.3 NP_004084.1 P52799 EFNB2_HUMAN ephrin-B2 182 cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development integral to plasma membrane ephrin receptor binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) TAGTTCTGGACGTCTTGTTGG 0.393000 12 276 0 0 1 0 0 POU3F2 5454 broad.mit.edu 37 6 99283871 99283871 + Silent SNP C C G TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr6:99283871C>G ENST00000328345.5 + 1 1292 c.1122C>G c.(1120-1122)ctC>ctG p.L374L NM_005604.3 NP_005595.2 P20265 PO3F2_HUMAN POU class 3 homeobox 2 374 positive regulation of cell proliferation identical protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(5) 10 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0355) GCCATTTCCTCAAATGCCCCA 0.587000 7 106 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42235962 42235962 + Missense_Mutation SNP G G T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr6:42235962G>T ENST00000541110.1 - 5 1935 c.1367C>A c.(1366-1368)cCc>cAc p.P456H TRERF1_ENST00000354325.2_Missense_Mutation_p.P456H|TRERF1_ENST00000372922.4_Missense_Mutation_p.P456H|TRERF1_ENST00000372917.4_Missense_Mutation_p.P456H|TRERF1_ENST00000340840.2_Missense_Mutation_p.P456H Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 456 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GATCCCACTGGGGGATAGGAG 0.607000 22 100 6.44725e-10 7.85304e-10 1 1 0 PCDH11X 27328 broad.mit.edu 37 X 91133549 91133549 + Silent SNP G G T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chrX:91133549G>T ENST00000373094.1 + 2 3155 c.2310G>T c.(2308-2310)ctG>ctT p.L770L PCDH11X_ENST00000373097.1_Silent_p.L770L|PCDH11X_ENST00000395337.2_Silent_p.L770L|PCDH11X_ENST00000373088.1_Silent_p.L770L|PCDH11X_ENST00000361724.1_Silent_p.L770L|PCDH11X_ENST00000361655.2_Silent_p.L770L|PCDH11X_ENST00000504220.1_Silent_p.L770L|PCDH11X_ENST00000298274.8_Silent_p.L770L|PCDH11X_ENST00000406881.1_Silent_p.L770L NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 770 Cadherin 7. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 TTGTCAATCTGTTCGTGAATG 0.423000 13 91 4.36969e-10 5.40374e-10 1 1 0 CENPE 1062 broad.mit.edu 37 4 104062022 104062022 + Silent SNP G G C TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr4:104062022G>C ENST00000265148.3 - 36 5792 c.5703C>G c.(5701-5703)ctC>ctG p.L1901L CENPE_ENST00000380026.3_Silent_p.L1876L NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 1901 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TCTCCAGTTTGAGTGTCTCCT 0.368000 7 127 0 0 1 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89082281 89082281 + RNA SNP T T C TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr2:89082281T>C ENST00000393525.3 + 0 503 GCTGAGAAGGTAATTAAAGTC 0.323000 3 48 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152326395 152326395 + Silent SNP T T C TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr1:152326395T>C ENST00000388718.5 - 3 3939 c.3867A>G c.(3865-3867)tcA>tcG p.S1289S FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1289 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAATGTGTTCTGAATGTCTGT 0.468000 51 314 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7576855 7576855 + Nonsense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr17:7576855G>A ENST00000420246.2 - 9 1123 c.991C>T c.(991-993)Cag>Tag p.Q331* TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 331 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(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) CTTAGTACCTGAAGGGTGAAA 0.448000 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) 6 108 0 0 1 0 0 DDB1 1642 broad.mit.edu 37 11 61067685 61067685 + Missense_Mutation SNP C C A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr11:61067685C>A ENST00000301764.7 - 27 3743 c.3346G>T c.(3346-3348)Gat>Tat p.D1116Y DDB1_ENST00000451943.2_Missense_Mutation_p.D103Y|DDB1_ENST00000538470.1_Missense_Mutation_p.D163Y|DDB1_ENST00000450997.2_Missense_Mutation_p.D427Y NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 1116 Interaction with CDT1 and CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 CCGCTGCCATCGTCATACTGC 0.592000 Nucleotide excision repair (NER) 8 28 0.0381472 0.0401289 1 1 0 CLVS2 134829 broad.mit.edu 37 6 123377032 123377032 + Silent SNP C C T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr6:123377032C>T ENST00000275162.4 + 5 2092 c.757C>T c.(757-759)Ctg>Ttg p.L253L CLVS2_ENST00000368438.1_Silent_p.L107L NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 253 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 TGGAGGAATGCTGCCTCCTTA 0.448000 10 148 0 0 1 0 0 PROZ 8858 broad.mit.edu 37 13 113824825 113824825 + Missense_Mutation SNP G G T rs150819115 TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr13:113824825G>T ENST00000342783.4 + 8 745 c.738G>T c.(736-738)agG>agT p.R246S PROZ_ENST00000375547.2_Missense_Mutation_p.R224S|PROZ_ENST00000493630.1_3'UTR NM_001256134.1 NP_001243063.1 P22891 PROZ_HUMAN protein Z, vitamin K-dependent plasma glycoprotein 224 Peptidase S1. blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|serine-type endopeptidase activity NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.216) all cancers(43;0.104) Menadione(DB00170) TGTTACACAGGAATATTACTG 0.294000 11 102 3.86212e-05 4.43733e-05 1 1 0 SLC5A3 6526 broad.mit.edu 37 21 35468451 35468451 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr21:35468451G>A ENST00000381151.3 + 2 1466 c.954G>A c.(952-954)atG>atA p.M318I MRPS6_ENST00000399312.2_Intron NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 318 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 TCCCAGGAATGATTTCCAGGA 0.463000 14 192 0 0 1 0 0 IGKV3D-11 28876 broad.mit.edu 37 2 90212170 90212170 + RNA SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr2:90212170G>A ENST00000390277.2 + 0 359 CAGTGGGCCTGGGACAGACTT 0.552000 3 106 0 0 1 0 0 SALL2 6297 broad.mit.edu 37 14 21992498 21992498 + Missense_Mutation SNP G G T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr14:21992498G>T ENST00000327430.3 - 2 1658 c.1364C>A c.(1363-1365)tCc>tAc p.S455Y SALL2_ENST00000450879.2_Missense_Mutation_p.S318Y|SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 455 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) TGGTGGCACGGACATACCATA 0.582000 11 33 0.000673444 0.000742163 1 1 0 ZMAT1 84460 broad.mit.edu 37 X 101139287 101139287 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chrX:101139287G>A ENST00000458570.1 - 9 1929 c.599C>T c.(598-600)tCa>tTa p.S200L ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000540921.1_Missense_Mutation_p.S371L|ZMAT1_ENST00000372782.3_Missense_Mutation_p.S371L A7MD47 A7MD47_HUMAN zinc finger, matrin-type 1 200 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 TTCCACTGGTGAAATATGGTA 0.423000 43 162 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906642 164906642 + Missense_Mutation SNP G G T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr3:164906642G>T ENST00000475390.1 - 2 2420 c.1977C>A c.(1975-1977)agC>agA p.S659R SLITRK3_ENST00000241274.3_Missense_Mutation_p.S659R O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 659 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 GAACCAGCAGGCTGAGAATTA 0.532000 HNSCC(40;0.11) 6 46 0.00198382 0.0021569 1 1 0 PSD 5662 broad.mit.edu 37 10 104176509 104176509 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr10:104176509G>A ENST00000020673.5 - 2 813 c.287C>T c.(286-288)gCc>gTc p.A96V PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Missense_Mutation_p.A96V NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 96 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) AGAGCTCTGGGCCCCGGGTGG 0.657000 6 85 0 0 1 0 0 POLD3 10714 broad.mit.edu 37 11 74329716 74329716 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr11:74329716G>A ENST00000263681.2 + 6 656 c.527G>A c.(526-528)gGt>gAt p.G176D POLD3_ENST00000527458.1_Missense_Mutation_p.G137D|POLD3_ENST00000532497.1_Missense_Mutation_p.G70D NM_006591.2 NP_006582.1 Q15054 DPOD3_HUMAN polymerase (DNA-directed), delta 3, accessory subunit 176 base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm DNA-directed DNA polymerase activity|protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1) 18 Breast(11;3.21e-06) ACCACCAATGGTCATGGCCCA 0.483000 19 136 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146471413 146471413 + Missense_Mutation SNP A A T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr7:146471413A>T ENST00000361727.3 + 2 664 c.148A>T c.(148-150)Agc>Tgc p.S50C NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 50 F5/8 type C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GGCTTTCAGCAGCTCCTCCTC 0.428000 HNSCC(39;0.1) 4 30 0 0 1 0 0 ANAPC1 64682 broad.mit.edu 37 2 112638323 112638323 + Missense_Mutation SNP T T C TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr2:112638323T>C ENST00000341068.3 - 2 852 c.80A>G c.(79-81)cAc>cGc p.H27R ANAPC1_ENST00000489177.1_5'UTR NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 27 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 GTGCTTGCAGTGGTCTCGACC 0.468000 9 57 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81746396 81746396 + Missense_Mutation SNP C C G TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr7:81746396C>G ENST00000356860.3 - 6 828 c.490G>C c.(490-492)Gca>Cca p.A164P CACNA2D1_ENST00000423588.1_Missense_Mutation_p.A164P|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.A164P NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 164 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TGGACTGCTGCGTGCTGATAA 0.408000 3 173 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236902717 236902717 + Missense_Mutation SNP A A G TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr1:236902717A>G ENST00000366578.4 + 10 1158 c.992A>G c.(991-993)aAg>aGg p.K331R ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.K331R NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 331 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CGGAAGCACAAGCCACCCAAG 0.597000 9 69 0 0 1 0 0 ICA1 3382 broad.mit.edu 37 7 8258017 8258017 + Missense_Mutation SNP T T C TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr7:8258017T>C ENST00000402384.3 - 6 763 c.497A>G c.(496-498)tAt>tGt p.Y166C ICA1_ENST00000401396.1_Missense_Mutation_p.Y154C|ICA1_ENST00000422063.2_Missense_Mutation_p.Y166C|ICA1_ENST00000406470.2_Missense_Mutation_p.Y166C|ICA1_ENST00000407906.1_Missense_Mutation_p.Y166C|ICA1_ENST00000265577.7_Missense_Mutation_p.Y165C|ICA1_ENST00000396675.3_Missense_Mutation_p.Y166C Q05084 ICA69_HUMAN islet cell autoantigen 1, 69kDa 166 AH. neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) TGCTCCTCTATATTCCGTCCT 0.488000 39 195 0 0 1 0 0 C3orf30 152405 broad.mit.edu 37 3 118866242 118866242 + Silent SNP C C T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr3:118866242C>T ENST00000295622.1 + 1 1246 c.1206C>T c.(1204-1206)ctC>ctT p.L402L RP11-484M3.5_ENST00000490594.1_Silent_p.L7L NM_152539.2 NP_689752.2 Q96M34 CC030_HUMAN chromosome 3 open reading frame 30 402 NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) AAGTAGACCTCAATTCCAAGC 0.448000 16 83 0 0 1 0 0 DGKZ 8525 broad.mit.edu 37 11 46397933 46397933 + Nonsense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr11:46397933G>A ENST00000454345.1 + 24 2836 c.2711G>A c.(2710-2712)tGg>tAg p.W904* DGKZ_ENST00000532868.2_Nonsense_Mutation_p.W720*|DGKZ_ENST00000527911.1_Nonsense_Mutation_p.W716*|DGKZ_ENST00000421244.2_Nonsense_Mutation_p.W716*|DGKZ_ENST00000456247.2_Nonsense_Mutation_p.W715*|DGKZ_ENST00000543978.1_Nonsense_Mutation_p.W68*|DGKZ_ENST00000318201.8_Nonsense_Mutation_p.W693*|DGKZ_ENST00000343674.6_Nonsense_Mutation_p.W732*|DGKZ_ENST00000395574.3_Nonsense_Mutation_p.W682*|DGKZ_ENST00000528615.1_Nonsense_Mutation_p.W494* NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 904 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) TCCCCCAAGTGGTGCTTCCTG 0.622000 39 197 0 0 1 0 0 ZNF436 80818 broad.mit.edu 37 1 23688996 23688996 + Silent SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr1:23688996G>A ENST00000314011.4 - 4 1015 c.879C>T c.(877-879)ctC>ctT p.L293L ZNF436_ENST00000374609.1_Intron|ZNF436_ENST00000374608.3_Silent_p.L293L NM_001077195.1 NP_001070663.1 Q9C0F3 ZN436_HUMAN zinc finger protein 436 293 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L293L(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) AGTGTTTGATGAGATCAGATC 0.527000 14 144 0 0 1 0 0 GLMN 11146 broad.mit.edu 37 1 92713516 92713516 + Missense_Mutation SNP C C T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr1:92713516C>T ENST00000370360.3 - 17 1585 c.1504G>A c.(1504-1506)Gag>Aag p.E502K GLMN_ENST00000534881.1_Missense_Mutation_p.E488K NM_053274.2 NP_444504.1 Q92990 GLMN_HUMAN glomulin, FKBP associated protein 502 muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis intracellular hepatocyte growth factor receptor binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 17 all_lung(203;0.00827)|Lung NSC(277;0.0295) all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989) AAATTATTCTCAATATTTCCA 0.299000 Multiple Glomus Tumors (of the Skin), Familial 9 142 0 0 1 0 0 APOL6 80830 broad.mit.edu 37 22 36054943 36054943 + Missense_Mutation SNP C C T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr22:36054943C>T ENST00000409652.3 + 3 608 c.332C>T c.(331-333)aCc>aTc p.T111I NM_030641.3 NP_085144.1 Q9BWW8 APOL6_HUMAN apolipoprotein L, 6 111 lipoprotein metabolic process cytoplasm|extracellular region lipid binding|lipid transporter activity haematopoietic_and_lymphoid_tissue(1)|lung(4) 5 CTGCTCTCCACCGCTGGTCAA 0.572000 6 69 0 0 1 0 0 OR2D2 120776 broad.mit.edu 37 11 6913385 6913385 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr11:6913385G>A ENST00000299459.2 - 1 445 c.347C>T c.(346-348)gCa>gTa p.A116V NM_003700.1 NP_003691.1 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, member 2 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GGACATCACTGCAAGAAGGGC 0.488000 14 89 0 0 1 0 0 OR8J1 219477 broad.mit.edu 37 11 56128372 56128372 + Missense_Mutation SNP C C A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr11:56128372C>A ENST00000303039.3 + 1 682 c.650C>A c.(649-651)tCt>tAt p.S217Y NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) GTTCTAGTATCTTATTTCAAT 0.328000 15 118 4.7546e-09 5.70552e-09 1 1 0 PTPN4 5775 broad.mit.edu 37 2 120712819 120712819 + Missense_Mutation SNP C C G TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr2:120712819C>G ENST00000263708.2 + 20 2671 c.1900C>G c.(1900-1902)Cag>Gag p.Q634E PTPN4_ENST00000544261.1_Missense_Mutation_p.Q267E NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 634 cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) TAGTGTGCATCAGGATGACCA 0.398000 12 94 0 0 1 0 0 SLC2A13 114134 broad.mit.edu 37 12 40441956 40441956 + Missense_Mutation SNP T T C TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr12:40441956T>C ENST00000280871.4 - 2 663 c.613A>G c.(613-615)Aga>Gga p.R205G SLC2A13_ENST00000380858.1_Missense_Mutation_p.R205G NM_052885.3 NP_443117.3 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose transporter), member 13 205 integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) AATCGGCCTCTTAAATTGGGT 0.423000 HNSCC(50;0.14) 24 209 0 0 1 0 0 MCM5 4174 broad.mit.edu 37 22 35812693 35812693 + Missense_Mutation SNP C C G TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr22:35812693C>G ENST00000216122.4 + 12 1630 c.1476C>G c.(1474-1476)ttC>ttG p.F492L MCM5_ENST00000382011.5_Missense_Mutation_p.F449L NM_006739.3 NP_006730.2 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 492 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding p.F492F(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 ACTCAGTGTTCGGCCGCTGGG 0.577000 3 96 0 0 1 0 0 PHTF2 57157 broad.mit.edu 37 7 77531083 77531083 + Silent SNP T T C TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr7:77531083T>C ENST00000416283.2 + 5 315 c.189T>C c.(187-189)tcT>tcC p.S63S PHTF2_ENST00000307305.8_Silent_p.S59S|PHTF2_ENST00000415251.2_Silent_p.S59S|PHTF2_ENST00000450574.1_Silent_p.S63S|PHTF2_ENST00000424760.1_Silent_p.S59S|PHTF2_ENST00000422959.2_Silent_p.S63S|PHTF2_ENST00000248550.7_Silent_p.S97S|PHTF2_ENST00000275575.7_Silent_p.S59S NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 97 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 TTTCAGGGTCTGCATTTGCAA 0.338000 2 7 0 0 1 0 0 TMEM257 9142 broad.mit.edu 37 X 144909491 144909491 + Missense_Mutation SNP C C A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chrX:144909491C>A ENST00000408967.2 + 1 564 c.296C>A c.(295-297)gCc>gAc p.A99D NM_004709.2 NP_004700.1 transmembrane protein 257 TCTCCCAGGGCCCTGCCAAGA 0.398000 12 25 9.05144e-12 1.12795e-11 1 1 0 LRRK2 120892 broad.mit.edu 37 12 40645303 40645303 + Missense_Mutation SNP T T G TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr12:40645303T>G ENST00000298910.7 + 10 1196 c.1138T>G c.(1138-1140)Tac>Gac p.Y380D LRRK2_ENST00000343742.2_Missense_Mutation_p.Y380D NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 380 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TCTCCTTATGTACCAAAACAG 0.318000 OREG0003829 type=REGULATORY REGION|Gene=LRRK2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 4 27 0 0 1 0 0 ANGPT2 285 broad.mit.edu 37 8 6378700 6378700 + Splice_Site SNP G G T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr8:6378700G>T ENST00000325203.5 - 4 1272 c.799_splice c.e4+1 p.N266_splice ANGPT2_ENST00000338312.6_Splice_Site_p.N214_splice|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000415216.1_Splice_Site_p.N266_splice|ANGPT2_ENST00000523120.1_Splice_Site_p.N266_splice O15123 ANGP2_HUMAN angiopoietin 2 266 angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) TAAACTTACAGTTTGATGTGG 0.353000 17 90 5.3912e-06 6.28327e-06 1 1 0 LOC645752 645752 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 3 157 0 0 1 0 0 MAPKAPK5 8550 broad.mit.edu 37 12 112318261 112318261 + Missense_Mutation SNP C C T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr12:112318261C>T ENST00000550735.2 + 8 1346 c.590C>T c.(589-591)gCg>gTg p.A197V MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.A197V NM_003668.2|NM_139078.1 NP_003659.2|NP_620777.1 Q8IW41 MAPK5_HUMAN mitogen-activated protein kinase-activated protein kinase 5 197 Protein kinase. signal transduction cytoplasm|nucleus ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity endometrium(1)|lung(11)|ovary(1) 13 GTACTGGAGGCGCAAAGAAGG 0.463000 5 78 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152477074 152477074 + Missense_Mutation SNP A A C TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr6:152477074A>C ENST00000367255.5 - 132 24550 c.23949T>G c.(23947-23949)atT>atG p.I7983M SYNE1_ENST00000423061.1_Missense_Mutation_p.I7912M|SYNE1_ENST00000539504.1_Missense_Mutation_p.I138M|SYNE1_ENST00000265368.4_Missense_Mutation_p.I7983M|SYNE1_ENST00000354674.4_Missense_Mutation_p.I138M|SYNE1_ENST00000341594.5_Missense_Mutation_p.I7595M|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.I7912M|SYNE1_ENST00000356820.4_Missense_Mutation_p.I2507M NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7983 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ACATAGCACAAATGTTTCTCC 0.498000 HNSCC(10;0.0054) 10 104 0 0 1 0 0 TMEM123 114908 broad.mit.edu 37 11 102272786 102272786 + Silent SNP G G C rs142725847 by1000genomes TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr11:102272786G>C ENST00000398136.2 - 3 729 c.309C>G c.(307-309)gtC>gtG p.V103V TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000361236.3_Silent_p.V84V|TMEM123_ENST00000532161.1_Silent_p.V15V NM_052932.2 NP_443164.2 Q8N131 PORIM_HUMAN transmembrane protein 123 103 Thr-rich. oncosis external side of plasma membrane|integral to membrane receptor activity breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 9 all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0149) TATTTGTTGAGACCATCCCTG 0.438000 28 282 0 0 1 0 0 CGN 57530 broad.mit.edu 37 1 151503155 151503155 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr1:151503155G>A ENST00000271636.7 + 13 2637 c.2504G>A c.(2503-2505)cGa>cAa p.R835Q NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 829 Glu-rich. myosin complex|tight junction actin binding|motor activity p.R835L(1) NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GTGCTCCGGCGAGGCAAGGCT 0.652000 2 5 0 0 1 0 0 HNRNPU 3192 broad.mit.edu 37 1 245019776 245019776 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr1:245019776G>A ENST00000444376.2 - 10 2072 c.1838C>T c.(1837-1839)gCg>gTg p.A613V HNRNPU_ENST00000283179.9_Missense_Mutation_p.A632V NM_004501.3|NM_031844.2 NP_004492.2|NP_114032.2 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 632 CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) TTTGAGGACCGCATGTTCTGG 0.368000 4 210 0 0 1 0 0 HK1 3098 broad.mit.edu 37 10 71060577 71060577 + Translation_Start_Site SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr10:71060577G>A ENST00000360289.2 + 0 486 HK1_ENST00000404387.2_Intron|HK1_ENST00000448642.2_Intron NM_033497.2|NM_033498.2|NM_033500.2 NP_277032.1|NP_277033.1|NP_277035.2 P19367 HXK1_HUMAN hexokinase 1 glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2) 35 GCACCACTGTGGTGGCGTGGA 0.428000 3 36 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33588219 33588219 + Missense_Mutation SNP G G T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr20:33588219G>T ENST00000262873.7 + 37 5123 c.5031G>T c.(5029-5031)caG>caT p.Q1677H NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 1635 membrane|myosin filament actin binding|ATP binding|motor activity p.Q1677H(1) NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) TGGAGCTGCAGCTGGGCCATG 0.672000 5 58 0.000602214 0.00066821 1 1 0 MFSD7 84179 broad.mit.edu 37 4 680361 680361 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr4:680361G>A ENST00000322224.4 - 2 567 c.254C>T c.(253-255)gCg>gTg p.A85V MFSD7_ENST00000404286.2_Missense_Mutation_p.A85V|MFSD7_ENST00000503156.1_Missense_Mutation_p.A21V|MFSD7_ENST00000515118.1_Missense_Mutation_p.A85V|MFSD7_ENST00000513740.1_5'UTR|MFSD7_ENST00000347950.5_Missense_Mutation_p.A63V Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 7 85 transmembrane transport integral to membrane cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 11 CCAGATGGCCGCCACGCCAAA 0.642000 3 83 0 0 1 0 0 OR6K6 128371 broad.mit.edu 37 1 158725011 158725011 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr1:158725011G>A ENST00000368144.2 + 1 502 c.406G>A c.(406-408)Ggt>Agt p.G136S NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) CCACTCACTTGGTATCACAGA 0.493000 5 115 0 0 1 0 0 PPIL3 53938 broad.mit.edu 37 2 201750420 201750420 + Splice_Site SNP C C T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr2:201750420C>T ENST00000286175.8 - 3 462 c.e3+1 PPIL3_ENST00000392283.4_Splice_Site|PPIL3_ENST00000465823.1_Splice_Site|PPIL3_ENST00000409361.1_Splice_Site|PPIL3_ENST00000409449.1_Splice_Site NM_032472.3 NP_115861.1 Q9H2H8 PPIL3_HUMAN peptidylprolyl isomerase (cyclophilin)-like 3 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity|protein binding endometrium(1)|lung(2) 3 ATAGTACTTACCTCACATGTT 0.318000 4 100 0 0 1 0 0 CCDC24 149473 broad.mit.edu 37 1 44461305 44461305 + Silent SNP C C T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr1:44461305C>T ENST00000372318.3 + 7 756 c.585C>T c.(583-585)tgC>tgT p.C195C SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000486064.1_3'UTR NM_152499.1 NP_689712.1 Q8N4L8 CCD24_HUMAN coiled-coil domain containing 24 195 endometrium(3)|large_intestine(2)|lung(3)|stomach(1) 9 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) TGAGGCCTTGCCACCCCTCTG 0.647000 3 25 0 0 1 0 0 CST1 1469 broad.mit.edu 37 20 23731351 23731351 + Silent SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr20:23731351G>A ENST00000304749.2 - 1 223 c.153C>T c.(151-153)gcC>gcT p.A51A CST1_ENST00000398402.1_Silent_p.A51A NM_001898.2 NP_001889.2 P01037 CYTN_HUMAN cystatin SN 51 extracellular region cysteine-type endopeptidase inhibitor activity 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) ACTCGCTGATGGCGAAGTGAA 0.577000 22 95 0 0 1 0 0 PTPN23 25930 broad.mit.edu 37 3 47453167 47453167 + Missense_Mutation SNP G G C TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr3:47453167G>C ENST00000265562.4 + 20 3956 c.3879G>C c.(3877-3879)gaG>gaC p.E1293D PTPN23_ENST00000431726.1_Missense_Mutation_p.E1167D NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 1293 Tyrosine-protein phosphatase. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTGAGGCTGAGATGGAGAAGG 0.587000 7 50 0 0 1 0 0 ELMOD3 84173 broad.mit.edu 37 2 85598671 85598671 + Missense_Mutation SNP A A G TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr2:85598671A>G ENST00000315658.7 + 8 852 c.593A>G c.(592-594)gAc>gGc p.D198G ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409890.2_Missense_Mutation_p.D198G|ELMOD3_ENST00000409344.3_Missense_Mutation_p.D198G|ELMOD3_ENST00000409013.3_Missense_Mutation_p.D198G|ELMOD3_ENST00000393852.4_Missense_Mutation_p.D198G|ELMOD3_ENST00000428955.2_Missense_Mutation_p.D198G NM_032213.4 NP_115589.2 Q96FG2 ELMD3_HUMAN ELMO/CED-12 domain containing 3 198 ELMO. phagocytosis cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 12 CACTGGGAGGACCTGGGCTTT 0.532000 15 98 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12905767 12905767 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chrX:12905767G>A ENST00000380659.3 + 3 2279 c.2140G>A c.(2140-2142)Gtc>Atc p.V714I NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 714 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) ACTGACCACTGTCCCTGAGAG 0.418000 15 76 0 0 1 0 0 IKZF3 22806 broad.mit.edu 37 17 37933964 37933964 + Silent SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr17:37933964G>A ENST00000346872.3 - 7 827 c.766C>T c.(766-768)Ctg>Ttg p.L256L IKZF3_ENST00000351680.3_Silent_p.L217L|IKZF3_ENST00000346243.3_Intron|IKZF3_ENST00000350532.3_Intron|IKZF3_ENST00000377944.3_Silent_p.L113L|IKZF3_ENST00000535189.1_Silent_p.L222L|IKZF3_ENST00000467757.1_Silent_p.L200L|IKZF3_ENST00000394189.2_Silent_p.L74L|IKZF3_ENST00000439016.2_Silent_p.L161L|IKZF3_ENST00000377958.2_Silent_p.L169L|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000439167.2_Silent_p.L183L|IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000583368.1_Silent_p.L9L NM_012481.4 NP_036613.2 Q9UKT9 IKZF3_HUMAN IKAROS family zinc finger 3 (Aiolos) 256 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) AATCTGTCCAGTACGAGAGCT 0.398000 17 108 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73676156 73676156 + Silent SNP T T A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr2:73676156T>A ENST00000264448.6 + 8 2610 c.2499T>A c.(2497-2499)gcT>gcA p.A833A ALMS1_ENST00000409009.1_Silent_p.A791A|ALMS1_ENST00000377715.1_Silent_p.A833A NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 833 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 CCGAAGAGGCTCTGAAAGTTT 0.517000 19 93 0 0 1 0 0 PSEN2 5664 broad.mit.edu 37 1 227069674 227069674 + Silent SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr1:227069674G>A ENST00000366782.1 + 4 665 c.165G>A c.(163-165)tcG>tcA p.S55S PSEN2_ENST00000340188.4_Silent_p.S22S|PSEN2_ENST00000391872.2_Silent_p.S55S|PSEN2_ENST00000422240.2_Silent_p.S22S|PSEN2_ENST00000366783.3_Silent_p.S22S P49810 PSN2_HUMAN presenilin 2 (Alzheimer disease 4) 22 amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc aspartic-type endopeptidase activity|protein binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1) 20 Prostate(94;0.0771) CCCTAATGTCGGCTGAGAGCC 0.627000 13 73 0 0 1 0 0 UBE4B 10277 broad.mit.edu 37 1 10207077 10207077 + Silent SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr1:10207077G>A ENST00000377157.3 + 18 2846 c.1785G>A c.(1783-1785)ctG>ctA p.L595L UBE4B_ENST00000253251.8_Silent_p.L711L|UBE4B_ENST00000343090.6_Silent_p.L840L NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 840 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) AGAGCTTCCTGAGAAGATGTC 0.527000 17 113 0 0 1 0 0 CENPO 79172 broad.mit.edu 37 2 25038610 25038610 + Silent SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr2:25038610G>A ENST00000380834.2 + 5 1004 c.579G>A c.(577-579)caG>caA p.Q193Q CENPO_ENST00000260662.1_Silent_p.Q193Q|CENPO_ENST00000395845.2_3'UTR|CENPO_ENST00000473706.1_Silent_p.Q187Q Q9BU64 CENPO_HUMAN centromere protein O 193 cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) GGAAGTACCAGGCAGACCGGC 0.468000 25 121 0 0 1 0 0 NDNL2 56160 broad.mit.edu 37 15 29561302 29561302 + Missense_Mutation SNP C C A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr15:29561302C>A ENST00000332303.4 - 1 731 c.608G>T c.(607-609)cGg>cTg p.R203L FAM189A1_ENST00000261275.4_Intron NM_138704.3 NP_619649.1 Q96MG7 MAGG1_HUMAN necdin-like 2 203 MAGE. regulation of growth cytoplasm|nucleus breast(3)|large_intestine(2)|lung(3) 8 all_lung(180;4.69e-11)|Breast(32;0.0013) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CCCTAAGCGCCGCAGAAAGTC 0.512000 15 77 3.27435e-08 3.87186e-08 1 1 0 HSPB11 51668 broad.mit.edu 37 1 54387365 54387365 + Missense_Mutation SNP C C A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr1:54387365C>A ENST00000194214.5 - 6 783 c.394G>T c.(394-396)Gtt>Ttt p.V132F HSPB11_ENST00000371378.2_Intron|HSPB11_ENST00000489675.1_5'UTR NM_016126.2 NP_057210.2 Q9Y547 HSB11_HUMAN heat shock protein family B (small), member 11 132 cell adhesion|response to stress p.V132I(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1) 9 TCTGCAGAAACGCTATGCACA 0.343000 3 135 1 1 1 1 0 C8orf76 84933 broad.mit.edu 37 8 124253497 124253497 + Silent SNP G G C TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr8:124253497G>C ENST00000276704.4 - 1 141 c.90C>G c.(88-90)tcC>tcG p.S30S C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Intron NM_032847.2 NP_116236.1 Q96K31 CH076_HUMAN chromosome 8 open reading frame 76 30 binding NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4) 17 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) TGGCGCAGTAGGACGCGGGCG 0.731000 2 11 0 0 1 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473333 22473333 + RNA SNP A A G TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr15:22473333A>G ENST00000557788.2 - 0 20 CCAGGAGGAGAAAGAACCACA 0.512000 3 36 0 0 1 0 0 ST5 6764 broad.mit.edu 37 11 8752204 8752204 + Silent SNP C C T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr11:8752204C>T ENST00000534127.1 - 6 1018 c.633G>A c.(631-633)ccG>ccA p.P211P ST5_ENST00000526757.1_Intron|ST5_ENST00000357665.1_Silent_p.P211P|ST5_ENST00000313726.6_Silent_p.P211P|ST5_ENST00000530438.1_Intron NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 211 positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) TGCAGGGGGACGGCACCACGC 0.642000 3 25 0 0 1 0 0 OPCML 4978 broad.mit.edu 37 11 132290129 132290129 + Missense_Mutation SNP C C G TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr11:132290129C>G ENST00000331898.7 - 7 1574 c.996G>C c.(994-996)tgG>tgC p.W332C OPCML_ENST00000541867.1_Missense_Mutation_p.W341C|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.W325C|OPCML_ENST00000374778.4_Missense_Mutation_p.W291C NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 332 cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) TCCCTGATAGCCAGAGACAAG 0.498000 4 63 0 0 1 0 0 TMEM196 256130 broad.mit.edu 37 7 19765251 19765251 + Silent SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr7:19765251G>A ENST00000405844.1 - 3 1040 c.345C>T c.(343-345)atC>atT p.I115I TMEM196_ENST00000433641.1_Silent_p.I47I|TMEM196_ENST00000422233.1_Silent_p.I47I|TMEM196_ENST00000405764.3_Silent_p.I115I|TMEM196_ENST00000493519.1_Silent_p.I47I Q5HYL7 TM196_HUMAN transmembrane protein 196 121 integral to membrane p.I115I(1)|p.I47I(1) breast(1)|large_intestine(1)|lung(4) 6 TGCAGCCCCCGATCCCAATGC 0.532000 10 77 0 0 1 0 0 ZNF582 147948 broad.mit.edu 37 19 56895798 56895798 + Missense_Mutation SNP G G C TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr19:56895798G>C ENST00000301310.4 - 5 1146 c.988C>G c.(988-990)Cag>Gag p.Q330E ZNF582_ENST00000586929.1_Missense_Mutation_p.Q330E NM_144690.1 NP_653291.1 Q96NG8 ZN582_HUMAN zinc finger protein 582 330 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) TGAACAGTCTGATGTTGAATC 0.383000 3 160 0 0 1 0 0 BPIFB1 92747 broad.mit.edu 37 20 31887714 31887714 + Missense_Mutation SNP C C A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr20:31887714C>A ENST00000253354.1 + 8 832 c.671C>A c.(670-672)tCc>tAc p.S224Y BPIFB1_ENST00000464032.1_3'UTR NM_033197.2 NP_149974.2 Q8TDL5 LPLC1_HUMAN BPI fold containing family B, member 1 224 extracellular space lipid binding GTGCCCATTTCCCTCAGCATT 0.557000 OREG0025869 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 114 6.44725e-10 7.85304e-10 1 1 0 LINGO4 339398 broad.mit.edu 37 1 151774631 151774631 + Missense_Mutation SNP T T A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr1:151774631T>A ENST00000368820.3 - 2 1487 c.550A>T c.(550-552)Acc>Tcc p.T184S NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 184 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) AGGGTGAGGGTGCTCAACTTG 0.607000 17 88 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70527612 70527612 + Missense_Mutation SNP C C T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr14:70527612C>T ENST00000381269.2 - 3 2582 c.1829G>A c.(1828-1830)aGg>aAg p.R610K SLC8A3_ENST00000534137.1_Missense_Mutation_p.R610K|SLC8A3_ENST00000216568.7_5'UTR|SLC8A3_ENST00000356921.2_Missense_Mutation_p.R610K|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000357887.3_Intron|SLC8A3_ENST00000528359.1_Intron|SLC8A3_ENST00000533899.1_5'UTR|SLC8A3_ENST00000533541.1_Intron NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 610 Calx-beta 2. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) ATTCTCTTGCCTTTCGTATTC 0.398000 27 98 0 0 1 0 0 ZNF540 163255 broad.mit.edu 37 19 38103919 38103919 + Missense_Mutation SNP A A G TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr19:38103919A>G ENST00000592533.1 + 5 2070 c.1738A>G c.(1738-1740)Aaa>Gaa p.K580E ZNF540_ENST00000343599.5_Missense_Mutation_p.K580E|ZNF540_ENST00000589117.1_Missense_Mutation_p.K548E|ZNF540_ENST00000316433.4_Missense_Mutation_p.K580E NM_152606.4 NP_689819.1 zinc finger protein 540 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1) 28 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AAAACCATACAAATGTAAAGA 0.398000 9 127 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31642844 31642844 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr14:31642844G>A ENST00000399332.1 - 5 1260 c.772C>T c.(772-774)Cgc>Tgc p.R258C HECTD1_ENST00000553700.1_Missense_Mutation_p.R258C NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 258 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) GTGGTGCTGCGACCTGGTTTG 0.493000 6 81 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32730182 32730182 + Nonsense_Mutation SNP G G T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr2:32730182G>T ENST00000421745.2 + 50 9744 c.9610G>T c.(9610-9612)Gag>Tag p.E3204* NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 3204 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) CTTTCTTCCAGAGGAGGCTTG 0.502000 3 28 0.00024832 0.000277433 1 1 0 DMXL2 23312 broad.mit.edu 37 15 51757808 51757808 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr15:51757808G>A ENST00000251076.5 - 31 7845 c.7558C>T c.(7558-7560)Cac>Tac p.H2520Y DMXL2_ENST00000543779.2_Missense_Mutation_p.H2521Y|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.H1884Y NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2520 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TTGACATTGTGAAGTGCTAGT 0.343000 23 173 0 0 1 0 0 VN1R2 317701 broad.mit.edu 37 19 53762257 53762257 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr19:53762257G>A ENST00000341702.3 + 1 713 c.629G>A c.(628-630)gGt>gAt p.G210D NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 210 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) ACATACATTGGTCTCTCCAAT 0.458000 6 57 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104898224 104898224 + Missense_Mutation SNP T T C TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr8:104898224T>C ENST00000507740.1 + 2 1057 c.821T>C c.(820-822)gTa>gCa p.V274A RIMS2_ENST00000436393.2_Missense_Mutation_p.V244A|RIMS2_ENST00000406091.3_Missense_Mutation_p.V466A|RIMS2_ENST00000262231.10_Missense_Mutation_p.V274A NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 497 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AGCTCTGCTGTAAGAAAAACA 0.473000 HNSCC(12;0.0054) 16 71 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3135616 3135616 + Missense_Mutation SNP C C A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr18:3135616C>A ENST00000356443.4 - 15 2471 c.2138G>T c.(2137-2139)cGc>cTc p.R713L MYOM1_ENST00000400569.3_Missense_Mutation_p.R713L|MYOM1_ENST00000261606.7_Missense_Mutation_p.R713L NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 713 Fibronectin type-III 2. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 ATTAGAACAGCGGACACGGAA 0.512000 8 46 1.06961e-07 1.25563e-07 1 1 0 FEZ1 9638 broad.mit.edu 37 11 125322271 125322271 + Missense_Mutation SNP G G T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr11:125322271G>T ENST00000278919.3 - 8 1289 c.1055C>A c.(1054-1056)gCc>gAc p.A352D FEZ1_ENST00000527350.1_5'UTR NM_005103.4 NP_005094.1 Q99689 FEZ1_HUMAN fasciculation and elongation protein zeta 1 (zygin I) 352 axon guidance|cell adhesion|transport microtubule|plasma membrane breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 24 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934) GGGAGGAGAGGCTTTCTTCTC 0.493000 OREG0021477 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 50 1 1 1 1 0 CD163 9332 broad.mit.edu 37 12 7640635 7640635 + Missense_Mutation SNP C C A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr12:7640635C>A ENST00000359156.4 - 7 1671 c.1469G>T c.(1468-1470)cGt>cTt p.R490L CD163_ENST00000396620.3_Missense_Mutation_p.R490L|CD163_ENST00000541972.1_Missense_Mutation_p.R478L|CD163_ENST00000432237.2_Missense_Mutation_p.R490L NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 490 SRCR 5. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity p.R490H(1) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 CACTTCAACACGTCCAGAACA 0.478000 4 33 0.00024832 0.000277433 1 1 0 NPEPL1 79716 broad.mit.edu 37 20 57268962 57268962 + Missense_Mutation SNP C C A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr20:57268962C>A ENST00000356091.6 + 2 608 c.320C>A c.(319-321)gCg>gAg p.A107E STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Missense_Mutation_p.A59E|NPEPL1_ENST00000525967.1_Missense_Mutation_p.A79E NM_024663.3 NP_078939.3 Q8NDH3 PEPL1_HUMAN aminopeptidase-like 1 107 proteolysis cytoplasm aminopeptidase activity|manganese ion binding|metalloexopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109) CCGCCCGGAGCGCATCGCTGC 0.706000 4 12 0.00909568 0.00975828 1 1 0 TTN 7273 broad.mit.edu 37 2 179596836 179596836 + Missense_Mutation SNP A A C TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr2:179596836A>C ENST00000589042.1 - 57 17084 c.16860T>G c.(16858-16860)aaT>aaG p.N5620K TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.N4376K|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.N5303K|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5303 Ig-like 37. 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) TGCCAGCCTCATTTTGGGCCT 0.468000 19 225 0 0 1 0 0 OR52A5 390054 broad.mit.edu 37 11 5153039 5153039 + Silent SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr11:5153039G>A ENST00000307388.1 - 1 833 c.834C>T c.(832-834)ctC>ctT p.L278L NM_001005160.2 NP_001005160.1 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, member 5 278 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) GATTTGACAAGAGGATATGAA 0.398000 20 97 0 0 1 0 0 NCBP1 4686 broad.mit.edu 37 9 100412850 100412850 + Silent SNP C C T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr9:100412850C>T ENST00000375147.3 + 9 1219 c.963C>T c.(961-963)atC>atT p.I321I NM_002486.4 NP_002477.1 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 321 gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4) 19 Acute lymphoblastic leukemia(62;0.158) TTCACTGCATCATTAAGTCCC 0.403000 22 137 0 0 1 0 0 ERCC8 1161 broad.mit.edu 37 5 60199489 60199489 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr5:60199489G>A ENST00000426742.2 - 7 796 c.362C>T c.(361-363)tCt>tTt p.S121F ERCC8_ENST00000265038.5_Missense_Mutation_p.S179F|ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000543101.1_Missense_Mutation_p.S26F Q13216 ERCC8_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 8 179 positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction protein binding|protein complex binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14 Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077) TAGAATGTGAGAACAGGATCC 0.328000 8 96 0 0 1 0 0 NRSN2 80023 broad.mit.edu 37 20 333907 333907 + Silent SNP C C T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr20:333907C>T ENST00000382291.3 + 4 483 c.243C>T c.(241-243)acC>acT p.T81T NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Silent_p.T81T NM_024958.2 NP_079234.1 Q9GZP1 NRSN2_HUMAN neurensin 2 81 integral to membrane|plasma membrane|transport vesicle endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 all_cancers(10;0.0834) CGGCTCTGACCACTGGCTATG 0.642000 20 125 0 0 1 0 0 PRCD 768206 broad.mit.edu 37 17 74538650 74538650 + Silent SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr17:74538650G>A ENST00000586148.1 + 3 211 c.159G>A c.(157-159)ctG>ctA p.L53L PRCD_ENST00000592014.1_Silent_p.L53L|CYGB_ENST00000589145.1_Intron|PRCD_ENST00000592432.1_3'UTR Q00LT1 PRCD_HUMAN progressive rod-cone degeneration 53 response to stimulus|visual perception cytoplasm|integral to membrane AAGAACCTCTGAAGTAAGCCC 0.607000 7 64 0 0 1 0 0 OTOA 146183 broad.mit.edu 37 16 21693074 21693074 + Silent SNP G G T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr16:21693074G>T ENST00000388958.3 + 5 196 c.195G>T c.(193-195)acG>acT p.T65T OTOA_ENST00000286149.4_Silent_p.T65T NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 65 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) ACGTGTGGACGGATGACCTGT 0.512000 10 51 0.00829132 0.00895462 1 1 0 HFM1 164045 broad.mit.edu 37 1 91781517 91781517 + Missense_Mutation SNP T T A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr1:91781517T>A ENST00000370425.3 - 28 3093 c.2995A>T c.(2995-2997)Agt>Tgt p.S999C HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.S231C|HFM1_ENST00000370424.3_Missense_Mutation_p.S678C NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 999 SEC63. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) GTCGTATCACTATATCTTGTA 0.299000 10 48 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48707734 48707734 + Splice_Site SNP C C A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr15:48707734C>A ENST00000316623.5 - 64 8505 c.8051_splice c.e64+1 p.G2684_splice FBN1_ENST00000561429.1_5'UTR NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 2684 EGF-like 47; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ACTGCTTACCCTTGGCCTATG 0.498000 3 70 1 1 1 1 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 2 12 0 0 1 0 0 CHAF1A 10036 broad.mit.edu 37 19 4428796 4428796 + Missense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr19:4428796G>A ENST00000301280.5 + 8 1614 c.1513G>A c.(1513-1515)Gag>Aag p.E505K NM_005483.2 NP_005474.2 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 505 cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GCAGAGCGGCGAGTTCTCCTT 0.582000 Chromatin Structure 10 69 0 0 1 0 0 FLOT2 2319 broad.mit.edu 37 17 27209178 27209178 + Silent SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr17:27209178G>A ENST00000394906.2 - 9 899 c.822C>T c.(820-822)ttC>ttT p.F274F FLOT2_ENST00000394908.4_Silent_p.F219F|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Silent_p.F219F Q14254 FLOT2_HUMAN flotillin 2 219 cell adhesion|epidermis development cell surface|endocytic vesicle|endosome|membrane fraction endometrium(3)|lung(6)|prostate(1)|urinary_tract(1) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) TTTGCAGCTCGAAGGCTCGCT 0.542000 15 109 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 3 27 0 0 1 0 0 WDR19 57728 broad.mit.edu 37 4 39217727 39217727 + Missense_Mutation SNP C C G TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr4:39217727C>G ENST00000399820.3 + 12 1300 c.1146C>G c.(1144-1146)atC>atG p.I382M WDR19_ENST00000288634.7_Missense_Mutation_p.I222M|WDR19_ENST00000506503.1_Missense_Mutation_p.I382M NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 382 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 AGCTACCAATCACAGTTTCTG 0.323000 2 11 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60906173 60906173 + Silent SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr20:60906173G>A ENST00000252999.3 - 29 3631 c.3565C>T c.(3565-3567)Ctg>Ttg p.L1189L NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1189 Domain IV 1 (domain IV B). angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATGGGCACCAGAGTGACCCCG 0.657000 3 16 0 0 1 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29972705 29972705 + Missense_Mutation SNP C C G TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chrX:29972705C>G ENST00000378993.1 + 10 1941 c.1268C>G c.(1267-1269)aCt>aGt p.T423S IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.T423S NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 423 TIR. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 AATCAAGAGACTGGGGAAGAA 0.363000 9 45 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88483890 88483890 + Silent SNP G G T TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr15:88483890G>T ENST00000394480.1 - 15 2001 c.1680C>A c.(1678-1680)ctC>ctA p.L560L NTRK3_ENST00000542733.2_Silent_p.L462L|NTRK3_ENST00000355254.2_Silent_p.L560L|NTRK3_ENST00000557856.1_Silent_p.L552L|NTRK3_ENST00000357724.2_Silent_p.L552L|NTRK3_ENST00000360948.2_Silent_p.L560L|NTRK3_ENST00000558676.1_Silent_p.L552L NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 560 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) TGGTCGGGCTGAGGTTGTAGC 0.582000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 39 120 1.08169e-08 1.28849e-08 1 1 0 GRIK2 2898 broad.mit.edu 37 6 102074478 102074478 + Nonsense_Mutation SNP G G A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr6:102074478G>A ENST00000369138.1 + 3 997 c.507G>A c.(505-507)tgG>tgA p.W169* GRIK2_ENST00000358361.3_Nonsense_Mutation_p.W169*|GRIK2_ENST00000369134.4_Nonsense_Mutation_p.W120*|GRIK2_ENST00000413795.1_Nonsense_Mutation_p.W169*|GRIK2_ENST00000369137.3_Nonsense_Mutation_p.W169*|GRIK2_ENST00000318991.6_Nonsense_Mutation_p.W169*|GRIK2_ENST00000421544.1_Nonsense_Mutation_p.W169* NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 169 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TTTTCAAGTGGAAAACCGTCA 0.413000 6 111 0 0 1 0 0 RPS6KA4 8986 broad.mit.edu 37 11 64129153 64129153 + Missense_Mutation SNP C C A TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr11:64129153C>A ENST00000528057.1 + 7 779 c.691C>A c.(691-693)Ctg>Atg p.L231M RPS6KA4_ENST00000334205.4_Missense_Mutation_p.L231M|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.L231M NM_001006944.1 NP_001006945.1 O75676 KS6A4_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 4 231 Protein kinase 1. axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1) 13 GCTCTTCGAGCTGCTGACGGG 0.687000 5 90 0.00116845 0.00127897 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25490631 25490631 + RNA SNP G G C TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr15:25490631G>C ENST00000453082.2 + 0 2719 SNORD115-41_ENST00000363608.1_RNA NR_003343.1 GGTTGGGTCAGTGATGAGAAC 0.517000 18 235 0 0 1 0 0 PTCHD2 57540 broad.mit.edu 37 1 11580774 11580782 + In_Frame_Del DEL TGGTGTTCG TGGTGTTCG - TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr1:11580774_11580782delTGGTGTTCG ENST00000294484.6 + 10 2369_2377 c.2231_2239delTGGTGTTCG c.(2230-2241)ccc>c p.LVFA744del PTCHD2_ENST00000389575.3_In_Frame_Del_p.LVFA744del NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 744 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) ATCTTGTCCCTGGTGTTCGCCAGCCGGCT 0.656 7 66 --- --- --- --- TUFT1 7286 broad.mit.edu 37 1 151547445 151547445 + Frame_Shift_Del DEL G G - TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr1:151547445delG ENST00000368849.3 + 9 844 c.782delG c.(781-783)cgfs p.R261fs TUFT1_ENST00000392712.3_Frame_Shift_Del_p.R206fs|TUFT1_ENST00000538902.1_Frame_Shift_Del_p.R280fs|TUFT1_ENST00000353024.3_Frame_Shift_Del_p.R202fs|TUFT1_ENST00000368848.2_Frame_Shift_Del_p.R236fs NM_020127.2 NP_064512.1 Q9NNX1 TUFT1_HUMAN tuftelin 1 261 bone mineralization|odontogenesis cytoplasm|extracellular region structural constituent of tooth enamel cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GAGGAACTTCGGAGCAACAAT 0.547 2 4 --- --- --- --- ANKRD36BP2 645784 broad.mit.edu 37 2 89083945 89083946 + RNA INS - - GC TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr2:89083945_89083946insGC ENST00000393525.3 + 0 576 GTATTCCTTTTTTTTCAGTGTA 0.347 3 6 --- --- --- --- POTEE 445582 broad.mit.edu 37 2 131976431 131976431 + Frame_Shift_Del DEL C C - TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr2:131976431delC ENST00000356920.5 + 1 550 c.456delC c.(454-456)gtfs p.V152fs PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Frame_Shift_Del_p.V152fs NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 152 ATP binding GGGGTAAAGTCCCCAGAAAGG 0.572 14 204 --- --- --- --- DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs2622736 byFrequency TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr3:137880741_137880743delTCG ENST00000260803.4 - 8 1776_1778 c.1623_1625delCGA c.(1621-1626)gat>ga p.DD541del DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 541 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TTAAGCTGCATCGTCATCATCAT 0.394 7 150 --- --- --- --- GPR98 84059 broad.mit.edu 37 5 90149257 90149258 + Frame_Shift_Ins INS - - G TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr5:90149257_90149258insG ENST00000405460.2 + 80 17457_17458 c.17361_17362insG c.(17359-17364)gcggaafs p.E5788fs GPR98_ENST00000425867.2_Frame_Shift_Ins_p.E1449fs NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5788 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AAATAATGGCTGGGAAAAGTAC 0.386 9 45 --- --- --- --- EPPK1 83481 broad.mit.edu 37 8 144946991 144946992 + Frame_Shift_Ins INS - - T rs146779869 by1000genomes TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr8:144946991_144946992insT ENST00000525985.1 - 2 501_502 c.430_431insA c.(430-432)ggcfs p.G144fs P58107 EPIPL_HUMAN epiplakin 1 144 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCCCAGGGCCCTGTCCACAACC 0.688 9 60 --- --- --- --- CEL 1056 broad.mit.edu 37 9 135947002 135947034 + In_Frame_Del DEL CCCACGGGTGACTCCGAGACCGCCCCCGTGCCG CCCACGGGTGACTCCGAGACCGCCCCCGTGCCG - rs75294797 TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr9:135947002_135947034delCCCACGGGTGACTCCGAGACCGCCCCCGTGCCG ENST00000372080.4 + 11 2138_2170 c.2122_2154delCCCACGGGTGACTCCGAGACCGCCCCCGTGCCG c.(2122-2154)del p.PTGDSETAPVP708del CEL_ENST00000351304.7_In_Frame_Del_p.PTGDSETAPVP639del NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 705 17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type). cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity p.P718T(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CCCCGTGACCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTG 0.777 8 2 --- --- --- --- CLEC4D 338339 broad.mit.edu 37 12 8671707 8671708 + Frame_Shift_Ins INS - - TT TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr12:8671707_8671708insTT ENST00000299665.2 + 4 528_529 c.335_336insTT c.(334-336)ttcfs p.F112fs NM_080387.4 NP_525126.2 Q8WXI8 CLC4D_HUMAN C-type lectin domain family 4, member D 112 C-type lectin. innate immune response integral to membrane sugar binding large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Lung SC(5;0.184) GAAAGGAACTGTTCAGGGATGG 0.505 7 114 --- --- --- --- AJUBA 84962 broad.mit.edu 37 14 23447610 23447611 + Frame_Shift_Ins INS - - ATTG TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr14:23447610_23447611insATTG ENST00000262713.2 - 2 1425_1426 c.1050_1051insCAAT c.(1048-1053)aacctgfs p.L351fs RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Frame_Shift_Ins_p.L351fs NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 351 LIM zinc-binding 1. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding GCCTGGCAGGCATTGCTCTGCC 0.545 36 140 --- --- --- --- OTX2-AS1 100309464 broad.mit.edu 37 14 57442685 57442688 + RNA DEL CCTT CCTT - rs35764259 TCGA-CN-4738-01A-02D-1512-08 TCGA-CN-4738-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3b16fd-f98b-45ef-a423-861975f098b6 f6ebf6a1-d79d-4fbe-ac24-04a009ae08b4 g.chr14:57442685_57442688delCCTT ENST00000554725.1 + 0 344 ATGTATTTAGccttccttccttcc 0.319 2 4 --- --- --- ---