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 SNTG2 54221 broad.mit.edu 37 2 1133461 1133461 + Missense_Mutation SNP G G A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr2:1133461G>A ENST00000308624.5 + 6 506 c.377G>A c.(376-378)gGc>gAc p.G126D SNTG2_ENST00000407292.1_Intron NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 126 PDZ. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding p.G126D(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CAGGTTAATGGCATACATGTA 0.269 19 157 --- --- --- --- TNS1 7145 broad.mit.edu 37 2 218679689 218679689 + Missense_Mutation SNP A A C TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr2:218679689A>C ENST00000171887.4 - 25 4815 c.4363T>G c.(4363-4365)Ttt>Gtt p.F1455V TNS1_ENST00000419504.1_Missense_Mutation_p.F1442V|TNS1_ENST00000430930.1_Missense_Mutation_p.F1434V NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1455 cytoplasm|cytoskeleton|focal adhesion actin binding p.F1455V(1) breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TCCTGGACAAACTTCACTTTA 0.498 16 34 --- --- --- --- SMC4 10051 broad.mit.edu 37 3 160141224 160141224 + Missense_Mutation SNP G G C TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr3:160141224G>C ENST00000357388.3 + 14 2482 c.2031G>C c.(2029-2031)tgG>tgC p.W677C SMC4_ENST00000462787.1_Missense_Mutation_p.W677C|SMC4_ENST00000469762.1_Missense_Mutation_p.W652C|SMC4_ENST00000344722.5_Missense_Mutation_p.W677C|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.W677C NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 677 Flexible hinge. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TGGCTGTATGGGCGAAAAAGA 0.279 4 253 --- --- --- --- ADAM29 11086 broad.mit.edu 37 4 175898106 175898106 + Missense_Mutation SNP A A G TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr4:175898106A>G ENST00000359240.3 + 5 2100 c.1430A>G c.(1429-1431)gAt>gGt p.D477G ADAM29_ENST00000445694.1_Missense_Mutation_p.D477G|ADAM29_ENST00000514159.1_Missense_Mutation_p.D477G|ADAM29_ENST00000404450.4_Missense_Mutation_p.D477G NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 477 Disintegrin. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.D477G(2) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) AAGTGCCCAGATGACTTTTAT 0.448 40 159 --- --- --- --- SLC12A7 10723 broad.mit.edu 37 5 1081839 1081839 + Missense_Mutation SNP C C A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr5:1081839C>A ENST00000264930.5 - 9 1193 c.1150G>T c.(1150-1152)Gcg>Tcg p.A384S NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 384 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) CCCGCGTGCGCGTACGTACTC 0.667 3 99 --- --- --- --- FKBP5 2289 broad.mit.edu 37 6 35588018 35588018 + Missense_Mutation SNP G G A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr6:35588018G>A ENST00000542713.1 - 4 441 c.284C>T c.(283-285)gCt>gTt p.A95V FKBP5_ENST00000357266.4_Missense_Mutation_p.A95V|FKBP5_ENST00000536438.1_Missense_Mutation_p.A95V|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000539068.1_Missense_Mutation_p.A95V NM_001145777.1 NP_001139249.1 Q13451 FKBP5_HUMAN FK506 binding protein 5 95 PPIase FKBP-type 1. protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity p.A95V(1) breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2) 17 CTTCATGGTAGCCACCCCAAT 0.423 45 137 --- --- --- --- DNAH8 1769 broad.mit.edu 37 6 38816530 38816530 + Missense_Mutation SNP C C T TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr6:38816530C>T ENST00000359357.3 + 35 4755 c.4501C>T c.(4501-4503)Ctt>Ttt p.L1501F DNAH8_ENST00000449981.2_Missense_Mutation_p.L1718F|DNAH8_ENST00000441566.1_Missense_Mutation_p.L1501F dynein, axonemal, heavy chain 8 p.L1501F(2) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TTGGGTTTATCTTGAAGCCGT 0.358 16 177 --- --- --- --- ROS1 6098 broad.mit.edu 37 6 117645561 117645561 + Nonsense_Mutation SNP C C A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr6:117645561C>A ENST00000368508.3 - 34 5773 c.5575G>T c.(5575-5577)Gaa>Taa p.E1859* GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Nonsense_Mutation_p.E1853* NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1859 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AAACTTGTTTCTGGTATCCAA 0.294 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 4 108 --- --- --- --- AKAP7 9465 broad.mit.edu 37 6 131490307 131490307 + Silent SNP A A G TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr6:131490307A>G ENST00000431975.2 + 5 581 c.483A>G c.(481-483)ggA>ggG p.G161G AKAP7_ENST00000368123.4_Silent_p.G139G|AKAP7_ENST00000366358.2_Intron|AKAP7_ENST00000541650.1_Silent_p.G160G NM_016377.3 NP_057461.2 O43687 AKA7A_HUMAN A kinase (PRKA) anchor protein 7 0 intracellular signal transduction|ion transport apical plasma membrane|intracellular|lateral plasma membrane protein kinase A binding p.G139G(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1) 13 Breast(56;0.152) GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345) TCCTCCAGGGAAAACATTTGA 0.353 61 211 --- --- --- --- FBXO5 26271 broad.mit.edu 37 6 153292428 153292428 + Missense_Mutation SNP T T C TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr6:153292428T>C ENST00000367241.3 - 5 1456 c.1076A>G c.(1075-1077)tAt>tGt p.Y359C FBXO5_ENST00000477822.1_5'UTR|FBXO5_ENST00000229758.3_Missense_Mutation_p.Y405C NM_001142522.1 NP_001135994.1 Q9UKT4 FBX5_HUMAN F-box protein 5 405 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm|spindle metal ion binding|protein binding p.Y405C(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1) 15 Ovarian(120;0.125) OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893) CTTCGTACAATAATCAAATCC 0.418 18 148 --- --- --- --- ZFPM2 23414 broad.mit.edu 37 8 106811063 106811063 + Missense_Mutation SNP C C T TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr8:106811063C>T ENST00000407775.2 + 7 1101 c.851C>T c.(850-852)tCa>tTa p.S284L RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S152L|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S152L|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S15L|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 284 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding p.S284L(1) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) GCTCCGGTGTCAGAGGAAAAT 0.527 47 133 --- --- --- --- PTPRD 5789 broad.mit.edu 37 9 8485768 8485768 + Missense_Mutation SNP C C G TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr9:8485768C>G ENST00000381196.4 - 25 3592 c.3049G>C c.(3049-3051)Gat>Cat p.D1017H PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.D1017H|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1017H|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1004H|PTPRD_ENST00000358503.5_Missense_Mutation_p.D995H|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000471274.1_5'UTR NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1017 Fibronectin type-III 8. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.D1017H(1) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CTACCTTGATCCACAGGCAGT 0.448 TSP Lung(15;0.13) 17 44 --- --- --- --- FRMPD2 143162 broad.mit.edu 37 10 49457141 49457141 + Missense_Mutation SNP G G T TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr10:49457141G>T ENST00000374201.3 - 3 534 c.232C>A c.(232-234)Cat>Aat p.H78N FRMPD2_ENST00000407470.4_Missense_Mutation_p.H69N|FRMPD2_ENST00000305531.3_Missense_Mutation_p.H76N NM_001018071.3|NM_001042512.2 NP_001018081|NP_001035977.2 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 78 KIND. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding p.H78N(1) NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GCCTCTATATGAGAAACACGG 0.532 17 45 --- --- --- --- LTBR 4055 broad.mit.edu 37 12 6495568 6495568 + Missense_Mutation SNP A A G TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr12:6495568A>G ENST00000228918.4 + 6 951 c.625A>G c.(625-627)Acc>Gcc p.T209A LTBR_ENST00000541102.1_Missense_Mutation_p.T102A|LTBR_ENST00000543190.1_Silent_p.Q69Q|LTBR_ENST00000539925.1_Missense_Mutation_p.T190A NM_002342.2 NP_002333.1 P36941 TNR3_HUMAN lymphotoxin beta receptor (TNFR superfamily, member 3) 209 apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane protein binding|receptor activity p.T209A(2) breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 GTCCGACACAACCTGCAAAAA 0.577 11 29 --- --- --- --- CLEC1A 51267 broad.mit.edu 37 12 10234003 10234003 + Missense_Mutation SNP T T A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr12:10234003T>A ENST00000315330.4 - 3 286 c.224A>T c.(223-225)tAc>tTc p.Y75F CLEC1A_ENST00000457018.2_Missense_Mutation_p.Y42F|CLEC1A_ENST00000420265.2_Intron NM_016511.2 NP_057595.2 Q8NC01 CLC1A_HUMAN C-type lectin domain family 1, member A 75 cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity p.Y75F(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 23 GAGCTGGTAGTACTGAAAAAC 0.363 30 103 --- --- --- --- HECTD4 283450 broad.mit.edu 37 12 112717041 112717041 + Missense_Mutation SNP A A G TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr12:112717041A>G ENST00000550722.1 - 9 1641 c.1246T>C c.(1246-1248)Tct>Cct p.S416P HECTD4_ENST00000430131.2_Missense_Mutation_p.S166P|HECTD4_ENST00000377560.5_Missense_Mutation_p.S416P NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 p.S416P(1)|p.S166P(1) CTTTTTAAAGATGACAAACCA 0.398 25 92 --- --- --- --- PAPLN 89932 broad.mit.edu 37 14 73719443 73719443 + Missense_Mutation SNP C C T TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr14:73719443C>T ENST00000427855.1 + 11 1156 c.1054C>T c.(1054-1056)Cgg>Tgg p.R352W PAPLN_ENST00000555445.1_Missense_Mutation_p.R352W|PAPLN_ENST00000340738.5_Missense_Mutation_p.R325W|PAPLN_ENST00000554301.1_Missense_Mutation_p.R352W|PAPLN_ENST00000381166.3_Missense_Mutation_p.R352W O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 352 TSP type-1 2. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding p.R352W(1)|p.R325W(1) 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) GCCAGCTGACCGGCGTTCCTG 0.642 39 125 --- --- --- --- IGHG1 3500 broad.mit.edu 37 14 106208714 106208714 + RNA SNP A A T TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr14:106208714A>T ENST00000390548.2 - 0 303 TTGTCACAAGATTTGGGCTCT 0.582 6 245 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65917480 65917480 + Silent SNP A A G TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr15:65917480A>G ENST00000261892.6 + 2 1349 c.1062A>G c.(1060-1062)gtA>gtG p.V354V SLC24A1_ENST00000546330.1_Silent_p.V354V|SLC24A1_ENST00000339868.6_Silent_p.V354V|SLC24A1_ENST00000544319.2_Silent_p.V354V|SLC24A1_ENST00000537259.1_Silent_p.V354V|SLC24A1_ENST00000399033.4_Silent_p.V354V NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 354 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity p.V354V(1) breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GGACCAGTGTATCAGCCATCA 0.552 13 35 --- --- --- --- ITGAL 3683 broad.mit.edu 37 16 30495266 30495266 + Missense_Mutation SNP C C T TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr16:30495266C>T ENST00000356798.6 + 8 1021 c.841C>T c.(841-843)Cgc>Tgc p.R281C ITGAL_ENST00000358164.5_Missense_Mutation_p.R198C|ITGAL_ENST00000454514.2_3'UTR|ITGAL_ENST00000433423.2_Intron|RP11-297C4.2_ENST00000569459.1_RNA NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 281 VWFA. blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity p.R281S(1)|p.R281C(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) AGACATCATCCGCTACATCAT 0.587 31 252 --- --- --- --- AOC4P 90586 broad.mit.edu 37 17 41020769 41020769 + RNA SNP G G A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr17:41020769G>A ENST00000585538.1 + 0 1608 NR_002773.1 CCACACCACCGGCTACATCAG 0.527 17 27 --- --- --- --- ST8SIA3 51046 broad.mit.edu 37 18 55024179 55024179 + Missense_Mutation SNP A A T TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr18:55024179A>T ENST00000324000.3 + 3 2372 c.338A>T c.(337-339)aAt>aTt p.N113I NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 113 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity p.N113I(1) breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) GTAATAAAAAATTTTTCTTTG 0.318 35 146 --- --- --- --- ZNF43 7594 broad.mit.edu 37 19 22001955 22001955 + Silent SNP T T G TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr19:22001955T>G ENST00000594012.1 - 5 568 c.54A>C c.(52-54)gcA>gcC p.A18A ZNF43_ENST00000595461.1_Silent_p.A18A|ZNF43_ENST00000598381.1_Silent_p.A18A|ZNF43_ENST00000354959.4_Silent_p.A24A|ZNF43_ENST00000598288.1_Silent_p.A18A NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 24 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A24A(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) AATTCTGCTGTGCAATGTCCA 0.398 74 236 --- --- --- --- DGCR14 8220 broad.mit.edu 37 22 19121828 19121828 + Missense_Mutation SNP G G A TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr22:19121828G>A ENST00000252137.6 - 10 1355 c.1312C>T c.(1312-1314)Ccc>Tcc p.P438S NM_022719.2 NP_073210.1 Q96DF8 DGC14_HUMAN DiGeorge syndrome critical region gene 14 438 nervous system development catalytic step 2 spliceosome p.P438S(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 16 Colorectal(54;0.0993) GTGCTTGTGGGGGTCTGCAGC 0.692 16 35 --- --- --- --- CSF2RA 1438 broad.mit.edu 37 X 1407464 1407464 + Missense_Mutation SNP G G T TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chrX:1407464G>T ENST00000381524.3 + 5 458 c.272G>T c.(271-273)gGa>gTa p.G91V CSF2RA_ENST00000417535.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000432318.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000361536.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000381509.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000381529.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000355805.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000355432.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.G91V P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 91 extracellular region|integral to plasma membrane cytokine receptor activity p.G91V(2) central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) CTGCATGAAGGAGTCACATTT 0.418 146 521 --- --- --- --- TBC1D8B 54885 broad.mit.edu 37 X 106064139 106064139 + Missense_Mutation SNP G G T TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chrX:106064139G>T ENST00000357242.5 + 3 448 c.274G>T c.(274-276)Gat>Tat p.D92Y TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D92Y|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.D92Y|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D92Y NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 92 intracellular calcium ion binding|Rab GTPase activator activity p.D92Y(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CAAGCATTGGGATTGGTTGGA 0.308 48 55 --- --- --- --- C12orf55 144535 broad.mit.edu 37 12 97093817 97093817 + Frame_Shift_Del DEL A A - TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx eabee59a-01ca-476c-970c-72f69b24f6f1 f1ea82ad-41dd-4c0e-9328-73dd0548d125 g.chr12:97093817delA ENST00000524981.4 + 46 6443 c.6420delA c.(6418-6420)ggafs p.G2140fs chromosome 12 open reading frame 55 TTTTCTATGGAAAAAACATGC 0.343 56 247 --- --- --- ---