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 EIF3I 8668 broad.mit.edu 37 1 32690027 32690027 + Silent SNP C C T TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr1:32690027C>T ENST00000373586.1 + 4 273 c.201C>T c.(199-201)gtC>gtT p.V67V EIF3I_ENST00000471486.1_3'UTR NM_003757.2 NP_003748.1 Q13347 EIF3I_HUMAN eukaryotic translation initiation factor 3, subunit I 67 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) CCAAGCATGTCCTCACTGGCT 0.483 6 80 --- --- --- --- FAM179A 165186 broad.mit.edu 37 2 29237325 29237325 + Silent SNP T T C TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr2:29237325T>C ENST00000379558.4 + 8 1293 c.942T>C c.(940-942)ccT>ccC p.P314P FAM179A_ENST00000403861.2_Silent_p.P314P NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 314 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CTGCCCTGCCTTTTTCTCAGT 0.582 2 11 --- --- --- --- CCDC141 285025 broad.mit.edu 37 2 179702244 179702244 + Silent SNP C C A TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr2:179702244C>A ENST00000420890.2 - 23 3819 c.3702G>T c.(3700-3702)gtG>gtT p.V1234V CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.V659V NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 659 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CAGGCTCTTCCACCTCCATGT 0.572 3 47 --- --- --- --- STAT4 6775 broad.mit.edu 37 2 191940981 191940981 + Missense_Mutation SNP A A G TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr2:191940981A>G ENST00000392320.2 - 4 658 c.344T>C c.(343-345)aTa>aCa p.I115T STAT4_ENST00000358470.4_Missense_Mutation_p.I115T NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 115 I -> V (in dbSNP:rs3024839). JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) TGCAGCCAATATTCTCCTCTC 0.343 10 62 --- --- --- --- RNF216 54476 broad.mit.edu 37 7 5780784 5780784 + Silent SNP A A C TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr7:5780784A>C ENST00000425013.2 - 4 917 c.693T>G c.(691-693)tcT>tcG p.S231S RNF216_ENST00000389902.3_Silent_p.S288S NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 231 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) GCTGAGGAGAAGAGGGGCCTG 0.542 18 77 --- --- --- --- ARHGEF5 7984 broad.mit.edu 37 7 144062353 144062353 + Missense_Mutation SNP G G A TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr7:144062353G>A ENST00000056217.5 + 2 2765 c.2591G>A c.(2590-2592)aGc>aAc p.S864N NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 864 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) AGGAGCAGGAGCACTCGGGGA 0.602 4 123 --- --- --- --- CSMD1 64478 broad.mit.edu 37 8 2820915 2820915 + Missense_Mutation SNP C C T TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr8:2820915C>T ENST00000602557.1 - 61 9841 c.9286G>A c.(9286-9288)Gtg>Atg p.V3096M CSMD1_ENST00000602723.1_Missense_Mutation_p.V2919M|CSMD1_ENST00000400186.3_Missense_Mutation_p.V2919M|CSMD1_ENST00000542608.1_Missense_Mutation_p.V2918M|CSMD1_ENST00000520002.1_Missense_Mutation_p.V3096M|CSMD1_ENST00000537824.1_Missense_Mutation_p.V3095M Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3096 Sushi 25. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGACACAGCACGGCTATTTCC 0.498 79 44 --- --- --- --- PAPPA 5069 broad.mit.edu 37 9 119065088 119065088 + Silent SNP T T C TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr9:119065088T>C ENST00000328252.3 + 10 3375 c.3006T>C c.(3004-3006)ttT>ttC p.F1002F PAPPA_ENST00000534838.1_Silent_p.F40F|RP11-45A16.4_ENST00000451100.1_RNA NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1002 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GTGAGGAGTTTGAACAAAAAA 0.438 3 67 --- --- --- --- FAT3 120114 broad.mit.edu 37 11 92568223 92568223 + Silent SNP C C T TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr11:92568223C>T ENST00000298047.6 + 14 10076 c.10059C>T c.(10057-10059)gaC>gaT p.D3353D FAT3_ENST00000409404.2_Silent_p.D3353D|FAT3_ENST00000525166.1_Silent_p.D3203D Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3353 Cadherin 31. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCAGTGAAGACGCCTTGGTGG 0.488 TCGA Ovarian(4;0.039) 4 19 --- --- --- --- TCTN2 79867 broad.mit.edu 37 12 124171429 124171429 + Missense_Mutation SNP C C A TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr12:124171429C>A ENST00000303372.5 + 6 739 c.611C>A c.(610-612)aCc>aAc p.T204N TCTN2_ENST00000426174.2_Missense_Mutation_p.T203N NM_001143850.2|NM_024809.4 NP_001137322.1|NP_079085.2 Q96GX1 TECT2_HUMAN tectonic family member 2 204 cilium assembly|smoothened signaling pathway integral to membrane breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) TCCTGCTTCACCGGCGTGTTT 0.527 54 78 --- --- --- --- ADAM21P1 145241 broad.mit.edu 37 14 70713623 70713623 + RNA SNP T T C TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr14:70713623T>C ENST00000530196.1 - 0 895 NR_003951.1 CAAAATTATGTAAGTACCTAA 0.343 25 25 --- --- --- --- PAPLN 89932 broad.mit.edu 37 14 73719446 73719446 + Missense_Mutation SNP C C T TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr14:73719446C>T ENST00000427855.1 + 11 1159 c.1057C>T c.(1057-1059)Cgt>Tgt p.R353C PAPLN_ENST00000381166.3_Missense_Mutation_p.R353C|PAPLN_ENST00000555445.1_Missense_Mutation_p.R353C|PAPLN_ENST00000340738.5_Missense_Mutation_p.R326C|PAPLN_ENST00000554301.1_Missense_Mutation_p.R353C O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 353 TSP type-1 2. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) AGCTGACCGGCGTTCCTGCAA 0.632 50 99 --- --- --- --- KCNK10 54207 broad.mit.edu 37 14 88658679 88658679 + Missense_Mutation SNP C C T TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr14:88658679C>T ENST00000340700.5 - 5 1193 c.742G>A c.(742-744)Gtg>Atg p.V248M KCNK10_ENST00000319231.5_Missense_Mutation_p.V253M|KCNK10_ENST00000312350.5_Missense_Mutation_p.V253M NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 248 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 GGGATCGTCACAAACACAATG 0.498 40 96 --- --- --- --- ZZEF1 23140 broad.mit.edu 37 17 3917452 3917452 + Missense_Mutation SNP T T C TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr17:3917452T>C ENST00000381638.2 - 51 8469 c.8345A>G c.(8344-8346)gAc>gGc p.D2782G NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2782 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GTTGCTCATGTCGGAGGTGAA 0.572 6 56 --- --- --- --- DNAH9 1770 broad.mit.edu 37 17 11833352 11833352 + Missense_Mutation SNP A A G TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr17:11833352A>G ENST00000262442.4 + 63 12115 c.12047A>G c.(12046-12048)aAt>aGt p.N4016S DNAH9_ENST00000608377.1_Missense_Mutation_p.N328S|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Intron NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 AAA 6 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AAGATCACCAATGAGCCCCCC 0.602 3 48 --- --- --- --- TRIM16 10626 broad.mit.edu 37 17 15532066 15532066 + Missense_Mutation SNP G G A TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr17:15532066G>A ENST00000578237.1 - 11 2413 c.1558C>T c.(1558-1560)Cac>Tac p.H520Y TRIM16_ENST00000416464.2_Missense_Mutation_p.H390Y|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000579219.1_3'UTR|TRIM16_ENST00000336708.7_Missense_Mutation_p.H520Y|TRIM16_ENST00000577886.1_Missense_Mutation_p.H304Y tripartite motif containing 16 breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 19 UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559) GCAAACTTGTGAACCAGAGTC 0.507 24 37 --- --- --- --- APLP1 333 broad.mit.edu 37 19 36362608 36362608 + Missense_Mutation SNP C C T TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr19:36362608C>T ENST00000221891.4 + 5 824 c.632C>T c.(631-633)cCc>cTc p.P211L APLP1_ENST00000586861.1_Missense_Mutation_p.P205L|APLP1_ENST00000537454.2_Missense_Mutation_p.P172L NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 211 Zinc-binding. apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GTGTGCTGTCCCCCTCCAGGG 0.637 14 62 --- --- --- --- DSCAM 1826 broad.mit.edu 37 21 41719856 41719856 + Silent SNP G G T TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr21:41719856G>T ENST00000400454.1 - 6 1428 c.951C>A c.(949-951)acC>acA p.T317T NM_001271534.1|NM_001389.3 NP_001258463.1|NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 317 Ig-like C2-type 4. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGGGACTGATGGTGGCTTTCA 0.473 3 9 --- --- --- --- TSPEAR 54084 broad.mit.edu 37 21 45953635 45953635 + Missense_Mutation SNP T T A TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr21:45953635T>A ENST00000323084.4 - 3 540 c.475A>T c.(475-477)Aca>Tca p.T159S TSPEAR_ENST00000397916.1_Missense_Mutation_p.T91S NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 159 TSP N-terminal. cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 AGGACCAGTGTGTGCCAGCGG 0.692 15 31 --- --- --- --- SGSM3 27352 broad.mit.edu 37 22 40802485 40802485 + Missense_Mutation SNP A A G TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr22:40802485A>G ENST00000248929.9 + 10 1193 c.1004A>G c.(1003-1005)aAc>aGc p.N335S SGSM3_ENST00000454798.2_Missense_Mutation_p.N268S NM_015705.4 NP_056520.2 Q96HU1 SGSM3_HUMAN small G protein signaling modulator 3 335 cell cycle arrest|Rap protein signal transduction cytoplasm Rab GTPase activator activity|Rab GTPase binding cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6) 19 TCCATCTTCAACACGCTATCG 0.627 5 36 --- --- --- --- ATP6AP2 10159 broad.mit.edu 37 X 40457949 40457949 + Missense_Mutation SNP T T C TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chrX:40457949T>C ENST00000378438.4 + 6 709 c.551T>C c.(550-552)cTt>cCt p.L184P ATP6AP2_ENST00000544975.1_Missense_Mutation_p.L108P|ATP6AP2_ENST00000486558.1_3'UTR|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.L106P|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.L152P NM_005765.2 NP_005756.2 O75787 RENR_HUMAN ATPase, H+ transporting, lysosomal accessory protein 2 184 angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade external side of plasma membrane|integral to membrane protein binding|receptor activity endometrium(1)|large_intestine(1)|lung(2) 4 CTGCTCTTTCTTTCTGAACTG 0.363 33 24 --- --- --- --- DMTF1 9988 broad.mit.edu 37 7 86795841 86795851 + Frame_Shift_Del DEL ATAAAAGGCTT ATAAAAGGCTT - TCGA-H9-7775-01A-11D-2114-08 TCGA-H9-7775-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx cff41f62-8849-4654-807b-f02b1b04ba18 4992a5df-2ae7-4480-99ab-b908b3cdf96e g.chr7:86795841_86795851delATAAAAGGCTT ENST00000394703.5 + 6 715_725 c.152_162delATAAAAGGCTT c.(151-162)cataaaaggcttfs p.HKRL51fs DMTF1_ENST00000413276.2_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000394702.3_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000331242.7_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000432937.2_5'UTR|DMTF1_ENST00000411766.2_Intron|DMTF1_ENST00000414194.2_5'UTR NM_021145.3 NP_066968.3 Q9Y222 DMTF1_HUMAN cyclin D binding myb-like transcription factor 1 51 Interaction with CCND2 (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1) 16 Esophageal squamous(14;0.0058) GAACCTCCACATAAAAGGCTTTGTTTGTCCT 0.365 8 42 --- --- --- ---