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 EDAR 10913 broad.mit.edu 37 2 109545753 109545753 + Missense_Mutation SNP A A G TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr2:109545753A>G ENST00000409271.1 - 5 700 c.257T>C c.(256-258)aTa>aCa p.I86T EDAR_ENST00000376651.1_Missense_Mutation_p.I86T|EDAR_ENST00000258443.2_Missense_Mutation_p.I86T Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 86 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 ACGCCTGCATATCTGGTAGCC 0.607000 3 31 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276565 186276565 + Missense_Mutation SNP A A G TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr1:186276565A>G ENST00000445192.2 + 7 1759 c.1714A>G c.(1714-1716)Acc>Gcc p.T572A PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T529A|PRG4_ENST00000367485.4_Missense_Mutation_p.T479A|PRG4_ENST00000367483.4_Missense_Mutation_p.T531A NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 572 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T572A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 TGCACCCACCACCCCCAAGAA 0.642000 3 41 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 14 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52646099 52646099 + Missense_Mutation SNP T T G TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr15:52646099T>G ENST00000399231.3 - 26 3779 c.3536A>C c.(3535-3537)aAg>aCg p.K1179T MYO5A_ENST00000356338.6_Missense_Mutation_p.K1179T|MYO5A_ENST00000358212.6_Missense_Mutation_p.K1179T|MYO5A_ENST00000399233.2_Missense_Mutation_p.K1179T|MYO5A_ENST00000553916.1_Missense_Mutation_p.K1179T NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 1179 actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) CTGCTCCTCCTTGCGGTCCAG 0.562000 9 75 0 0 1 0 0 SVOP 55530 broad.mit.edu 37 12 109332604 109332604 + Splice_Site SNP T T C TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr12:109332604T>C ENST00000299134.5 - 7 699 c.701_splice c.e7+1 p.R234_splice NM_018711.2 NP_061181.1 Q8N4V2 SVOP_HUMAN SV2 related protein homolog (rat) 0 cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity breast(2)|lung(4) 6 GGCACTGACCTGTCTGGAGAT 0.542000 5 194 0 0 1 0 0 ARNT 405 broad.mit.edu 37 1 150812108 150812108 + Missense_Mutation SNP G G A TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr1:150812108G>A ENST00000358595.5 - 6 495 c.295C>T c.(295-297)Cgg>Tgg p.R99W ARNT_ENST00000354396.2_Missense_Mutation_p.R99W|ARNT_ENST00000515192.1_Missense_Mutation_p.R90W|ARNT_ENST00000505755.1_Missense_Mutation_p.R84W NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 99 Poly-Arg. positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) CGTCGCCGCCGTTCAATTTCA 0.493000 T ETV6 AML 3 10 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216273109 216273109 + Silent SNP C C T TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr2:216273109C>T ENST00000354785.4 - 16 2709 c.2340G>A c.(2338-2340)ctG>ctA p.L780L FN1_ENST00000346544.3_Silent_p.L780L|FN1_ENST00000443816.1_Silent_p.L780L|FN1_ENST00000359671.1_Silent_p.L780L|FN1_ENST00000432072.2_Silent_p.L780L|FN1_ENST00000357867.4_Silent_p.L780L|FN1_ENST00000421182.1_Silent_p.L780L|FN1_ENST00000357009.2_Silent_p.L780L|FN1_ENST00000356005.4_Silent_p.L780L|FN1_ENST00000323926.6_Silent_p.L780L|FN1_ENST00000345488.5_Silent_p.L780L|FN1_ENST00000336916.4_Silent_p.L780L|FN1_ENST00000446046.1_Silent_p.L780L P02751 FINC_HUMAN fibronectin 1 780 Fibronectin type-III 2. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCCAGGAAGCAGGTCAGGGA 0.423000 13 36 0 0 1 0 0 MAGED1 9500 broad.mit.edu 37 X 51637809 51637809 + Silent SNP C C T TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chrX:51637809C>T ENST00000375695.2 + 3 285 c.132C>T c.(130-132)tgC>tgT p.C44C MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000375722.1_Intron|MAGED1_ENST00000494718.1_Intron|MAGED1_ENST00000326587.7_Intron NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 0 apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding p.C44C(1) breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) CCACTCTGTGCGACCCCCCTT 0.602000 Multiple Myeloma(10;0.10) 5 10 0 0 1 0 0 NAA30 122830 broad.mit.edu 37 14 57858352 57858352 + Missense_Mutation SNP A A G TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr14:57858352A>G ENST00000556492.1 + 2 831 c.677A>G c.(676-678)gAt>gGt p.D226G NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron NM_001011713.2 NP_001011713.2 Q147X3 NAA30_HUMAN N(alpha)-acetyltransferase 30, NatC catalytic subunit 226 N-acetyltransferase. cytoplasm peptide alpha-N-acetyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 13 CAAATGCCCGATATCATGAGA 0.488000 5 169 0 0 1 0 0 OR8J3 81168 broad.mit.edu 37 11 55905035 55905035 + Missense_Mutation SNP G G C TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr11:55905035G>C ENST00000301529.1 - 1 159 c.160C>G c.(160-162)Cga>Gga p.R54G NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) TTTTGAAGTCGAGAGTCAACA 0.473000 5 71 0 0 1 0 0 PTPN3 5774 broad.mit.edu 37 9 112185070 112185070 + Missense_Mutation SNP C C A TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr9:112185070C>A ENST00000412145.1 - 8 3224 c.671G>T c.(670-672)cGg>cTg p.R224L PTPN3_ENST00000262539.3_Intron|PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000374541.2_Missense_Mutation_p.R355L NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 355 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 TAAGGATCTCCGCATGGCTGG 0.453000 4 104 0.00909568 0.00940932 1 1 0 JAM3 83700 broad.mit.edu 37 11 134014247 134014247 + Missense_Mutation SNP G G A TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr11:134014247G>A ENST00000299106.4 + 4 527 c.368G>A c.(367-369)cGc>cAc p.R123H JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000441717.3_Intron|JAM3_ENST00000529443.2_Missense_Mutation_p.R168H Q9BX67 JAM3_HUMAN junctional adhesion molecule 3 123 Ig-like V-type. angiogenesis|blood coagulation|regulation of neutrophil chemotaxis cell-cell contact zone|desmosome|extracellular space|integral to membrane integrin binding breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1) 10 all_hematologic(175;0.127) all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566) Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245) CGAAATGACCGCAAGGAAATT 0.488000 3 53 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 3 78 0 0 1 0 0 PTPN3 5774 broad.mit.edu 37 9 112185069 112185069 + Silent SNP C C T TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr9:112185069C>T ENST00000412145.1 - 8 3225 c.672G>A c.(670-672)cgG>cgA p.R224R PTPN3_ENST00000262539.3_Intron|PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000374541.2_Silent_p.R355R NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 355 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 ATAAGGATCTCCGCATGGCTG 0.453000 4 107 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 234102471 234102471 + Silent SNP T T C TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr2:234102471T>C ENST00000359570.5 + 25 2424 c.2424T>C c.(2422-2424)atT>atC p.I808I INPP5D_ENST00000455936.2_Silent_p.I572I|INPP5D_ENST00000450745.1_Silent_p.I572I Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 820 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) AGGGCTGCATTGCCCTTCGGT 0.582000 24 53 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104140440 104140440 + Missense_Mutation SNP G G C TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr12:104140440G>C ENST00000388887.2 + 58 6406 c.6202G>C c.(6202-6204)Gag>Cag p.E2068Q RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2068 EGF-like 15. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CAACACGTGTGAGTGTAACCT 0.502000 33 150 0 0 1 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130278724 130278724 + Missense_Mutation SNP T T C TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr11:130278724T>C ENST00000257359.6 - 7 2568 c.1862A>G c.(1861-1863)gAc>gGc p.D621G NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 621 Cys-rich. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) CTTGCAGCGGTCCCGGGGGGA 0.577000 23 87 0 0 1 0 0 HLX 3142 broad.mit.edu 37 1 221053618 221053618 + Missense_Mutation SNP C C T TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr1:221053618C>T ENST00000366903.6 + 1 1920 c.419C>T c.(418-420)cCt>cTt p.P140L NM_021958.3 NP_068777.1 Q14774 HLX_HUMAN H2.0-like homeobox 140 Pro-rich. cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(131;0.00914) cagcCTCCGCCTCCGCCCCGG 0.711000 4 18 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34090179 34090179 + Silent SNP C C T TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr1:34090179C>T ENST00000373381.4 - 35 5741 c.5565G>A c.(5563-5565)ccG>ccA p.P1855P CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.P728P|CSMD2_ENST00000373377.1_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1815 CUB 11. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGTTGAGGTACGGCTCTGGGA 0.662000 3 45 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24817584 24817584 + Missense_Mutation SNP C C T TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr16:24817584C>T ENST00000395799.3 + 16 4438 c.4309C>T c.(4309-4311)Cgg>Tgg p.R1437W TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1388W|CTD-2515A14.1_ENST00000568895.1_RNA NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1437 negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TTCTGGGAACCGGCCGCAGCA 0.498000 6 34 0 0 1 0 0 STAT3 6774 broad.mit.edu 37 17 40478180 40478180 + Missense_Mutation SNP G G A TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr17:40478180G>A ENST00000264657.5 - 15 1631 c.1319C>T c.(1318-1320)aCc>aTc p.T440I STAT3_ENST00000588969.1_Missense_Mutation_p.T440I|STAT3_ENST00000585517.1_Missense_Mutation_p.T440I|STAT3_ENST00000389272.3_Missense_Mutation_p.T342I|STAT3_ENST00000404395.3_Missense_Mutation_p.T440I NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 440 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) GGTCTCAAAGGTGATCAGGTG 0.532000 Hyperimmunoglobulin E Recurrent Infection Syndrome 3 30 0 0 1 0 0 EDAR 10913 broad.mit.edu 37 2 109545753 109545753 + Missense_Mutation SNP A A G TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr2:109545753A>G ENST00000409271.1 - 5 700 c.257T>C c.(256-258)aTa>aCa p.I86T EDAR_ENST00000258443.2_Missense_Mutation_p.I86T|EDAR_ENST00000376651.1_Missense_Mutation_p.I86T Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 86 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 ACGCCTGCATATCTGGTAGCC 0.607000 3 31 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276565 186276565 + Missense_Mutation SNP A A G TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr1:186276565A>G ENST00000445192.2 + 7 1759 c.1714A>G c.(1714-1716)Acc>Gcc p.T572A PRG4_ENST00000367483.4_Missense_Mutation_p.T531A|PRG4_ENST00000367485.4_Missense_Mutation_p.T479A|PRG4_ENST00000367486.3_Missense_Mutation_p.T529A|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 572 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T572A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 TGCACCCACCACCCCCAAGAA 0.642000 3 41 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 14 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52646099 52646099 + Missense_Mutation SNP T T G TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr15:52646099T>G ENST00000399231.3 - 26 3779 c.3536A>C c.(3535-3537)aAg>aCg p.K1179T MYO5A_ENST00000553916.1_Missense_Mutation_p.K1179T|MYO5A_ENST00000358212.6_Missense_Mutation_p.K1179T|MYO5A_ENST00000356338.6_Missense_Mutation_p.K1179T|MYO5A_ENST00000399233.2_Missense_Mutation_p.K1179T NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 1179 actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) CTGCTCCTCCTTGCGGTCCAG 0.562000 9 75 0 0 1 0 0 SVOP 55530 broad.mit.edu 37 12 109332604 109332604 + Splice_Site SNP T T C TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr12:109332604T>C ENST00000299134.5 - 7 699 c.701_splice c.e7+1 p.R234_splice NM_018711.2 NP_061181.1 Q8N4V2 SVOP_HUMAN SV2 related protein homolog (rat) 0 cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity breast(2)|lung(4) 6 GGCACTGACCTGTCTGGAGAT 0.542000 5 194 0 0 1 0 0 ARNT 405 broad.mit.edu 37 1 150812108 150812108 + Missense_Mutation SNP G G A TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr1:150812108G>A ENST00000358595.5 - 6 495 c.295C>T c.(295-297)Cgg>Tgg p.R99W ARNT_ENST00000354396.2_Missense_Mutation_p.R99W|ARNT_ENST00000515192.1_Missense_Mutation_p.R90W|ARNT_ENST00000505755.1_Missense_Mutation_p.R84W NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 99 Poly-Arg. positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) CGTCGCCGCCGTTCAATTTCA 0.493000 T ETV6 AML 3 10 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216273109 216273109 + Silent SNP C C T TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr2:216273109C>T ENST00000354785.4 - 16 2709 c.2340G>A c.(2338-2340)ctG>ctA p.L780L FN1_ENST00000345488.5_Silent_p.L780L|FN1_ENST00000432072.2_Silent_p.L780L|FN1_ENST00000359671.1_Silent_p.L780L|FN1_ENST00000357867.4_Silent_p.L780L|FN1_ENST00000357009.2_Silent_p.L780L|FN1_ENST00000356005.4_Silent_p.L780L|FN1_ENST00000346544.3_Silent_p.L780L|FN1_ENST00000336916.4_Silent_p.L780L|FN1_ENST00000323926.6_Silent_p.L780L|FN1_ENST00000446046.1_Silent_p.L780L|FN1_ENST00000443816.1_Silent_p.L780L|FN1_ENST00000421182.1_Silent_p.L780L P02751 FINC_HUMAN fibronectin 1 780 Fibronectin type-III 2. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCCAGGAAGCAGGTCAGGGA 0.423000 13 36 0 0 1 0 0 MAGED1 9500 broad.mit.edu 37 X 51637809 51637809 + Silent SNP C C T TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chrX:51637809C>T ENST00000375695.2 + 3 285 c.132C>T c.(130-132)tgC>tgT p.C44C MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000375722.1_Intron|MAGED1_ENST00000494718.1_Intron|MAGED1_ENST00000326587.7_Intron NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 0 apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding p.C44C(1) breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) CCACTCTGTGCGACCCCCCTT 0.602000 Multiple Myeloma(10;0.10) 5 10 0 0 1 0 0 NAA30 122830 broad.mit.edu 37 14 57858352 57858352 + Missense_Mutation SNP A A G TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr14:57858352A>G ENST00000556492.1 + 2 831 c.677A>G c.(676-678)gAt>gGt p.D226G NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron NM_001011713.2 NP_001011713.2 Q147X3 NAA30_HUMAN N(alpha)-acetyltransferase 30, NatC catalytic subunit 226 N-acetyltransferase. cytoplasm peptide alpha-N-acetyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 13 CAAATGCCCGATATCATGAGA 0.488000 5 169 0 0 1 0 0 OR8J3 81168 broad.mit.edu 37 11 55905035 55905035 + Missense_Mutation SNP G G C TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr11:55905035G>C ENST00000301529.1 - 1 159 c.160C>G c.(160-162)Cga>Gga p.R54G NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) TTTTGAAGTCGAGAGTCAACA 0.473000 5 71 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 4 42 0 0 1 0 0 PTPN3 5774 broad.mit.edu 37 9 112185070 112185070 + Missense_Mutation SNP C C A TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr9:112185070C>A ENST00000412145.1 - 8 3224 c.671G>T c.(670-672)cGg>cTg p.R224L PTPN3_ENST00000374541.2_Missense_Mutation_p.R355L|PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000262539.3_Intron NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 355 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 TAAGGATCTCCGCATGGCTGG 0.453000 4 104 0.00909568 0.00909568 1 1 0 ZNF702P 79986 broad.mit.edu 37 19 53472914 53472914 + RNA SNP A A G TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr19:53472914A>G ENST00000600068.1 - 0 489 ZNF702P_ENST00000270443.4_RNA TTTGATTTTCAATTAAAAACC 0.338000 3 13 0 0 1 0 0 JAM3 83700 broad.mit.edu 37 11 134014247 134014247 + Missense_Mutation SNP G G A TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr11:134014247G>A ENST00000299106.4 + 4 527 c.368G>A c.(367-369)cGc>cAc p.R123H JAM3_ENST00000529443.2_Missense_Mutation_p.R168H|JAM3_ENST00000441717.3_Intron|JAM3_ENST00000524969.1_3'UTR Q9BX67 JAM3_HUMAN junctional adhesion molecule 3 123 Ig-like V-type. angiogenesis|blood coagulation|regulation of neutrophil chemotaxis cell-cell contact zone|desmosome|extracellular space|integral to membrane integrin binding breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1) 10 all_hematologic(175;0.127) all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566) Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245) CGAAATGACCGCAAGGAAATT 0.488000 3 53 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348674 197348674 + RNA SNP A A G rs144273946 by1000genomes TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr3:197348674A>G ENST00000418868.1 - 0 585 NR_003266.2 GGCTCTGTCCACCAAATGCAC 0.478000 3 78 0 0 1 0 0 PTPN3 5774 broad.mit.edu 37 9 112185069 112185069 + Silent SNP C C T TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr9:112185069C>T ENST00000412145.1 - 8 3225 c.672G>A c.(670-672)cgG>cgA p.R224R PTPN3_ENST00000374541.2_Silent_p.R355R|PTPN3_ENST00000446349.1_Intron|PTPN3_ENST00000262539.3_Intron NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 355 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 ATAAGGATCTCCGCATGGCTG 0.453000 4 107 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 234102471 234102471 + Silent SNP T T C TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr2:234102471T>C ENST00000359570.5 + 25 2424 c.2424T>C c.(2422-2424)atT>atC p.I808I INPP5D_ENST00000455936.2_Silent_p.I572I|INPP5D_ENST00000450745.1_Silent_p.I572I Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 820 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) AGGGCTGCATTGCCCTTCGGT 0.582000 24 53 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104140440 104140440 + Missense_Mutation SNP G G C TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr12:104140440G>C ENST00000388887.2 + 58 6406 c.6202G>C c.(6202-6204)Gag>Cag p.E2068Q RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2068 EGF-like 15. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CAACACGTGTGAGTGTAACCT 0.502000 33 150 0 0 1 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130278724 130278724 + Missense_Mutation SNP T T C TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr11:130278724T>C ENST00000257359.6 - 7 2568 c.1862A>G c.(1861-1863)gAc>gGc p.D621G NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 621 Cys-rich. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) CTTGCAGCGGTCCCGGGGGGA 0.577000 23 87 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587657 43587657 + RNA SNP C C T rs148404065 by1000genomes TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr17:43587657C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GGTGACAACACATCTGTTTTA 0.323000 4 67 0 0 1 0 0 HLX 3142 broad.mit.edu 37 1 221053618 221053618 + Missense_Mutation SNP C C T TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr1:221053618C>T ENST00000366903.6 + 1 1920 c.419C>T c.(418-420)cCt>cTt p.P140L NM_021958.3 NP_068777.1 Q14774 HLX_HUMAN H2.0-like homeobox 140 Pro-rich. cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(131;0.00914) cagcCTCCGCCTCCGCCCCGG 0.711000 4 18 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34090179 34090179 + Silent SNP C C T TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr1:34090179C>T ENST00000373381.4 - 35 5741 c.5565G>A c.(5563-5565)ccG>ccA p.P1855P CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373380.1_Silent_p.P728P|CSMD2_ENST00000373388.2_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1815 CUB 11. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGTTGAGGTACGGCTCTGGGA 0.662000 3 45 0 0 1 0 0 TNRC6A 27327 broad.mit.edu 37 16 24817584 24817584 + Missense_Mutation SNP C C T TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr16:24817584C>T ENST00000395799.3 + 16 4438 c.4309C>T c.(4309-4311)Cgg>Tgg p.R1437W TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1388W|CTD-2515A14.1_ENST00000568895.1_RNA NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1437 negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TTCTGGGAACCGGCCGCAGCA 0.498000 6 34 0 0 1 0 0 STAT3 6774 broad.mit.edu 37 17 40478180 40478180 + Missense_Mutation SNP G G A TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr17:40478180G>A ENST00000264657.5 - 15 1631 c.1319C>T c.(1318-1320)aCc>aTc p.T440I STAT3_ENST00000588969.1_Missense_Mutation_p.T440I|STAT3_ENST00000404395.3_Missense_Mutation_p.T440I|STAT3_ENST00000585517.1_Missense_Mutation_p.T440I|STAT3_ENST00000389272.3_Missense_Mutation_p.T342I NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 440 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) GGTCTCAAAGGTGATCAGGTG 0.532000 Hyperimmunoglobulin E Recurrent Infection Syndrome 3 30 0 0 1 0 0 KRT1 3848 broad.mit.edu 37 12 53069236 53069256 + In_Frame_Del DEL TAGCTGCTACCTCCGGAGCCA TAGCTGCTACCTCCGGAGCCA - rs66529359 by1000genomes TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA ENST00000252244.3 - 9 1714_1734 c.1656_1676delTGGCTCCGGAGGTAGCAGCTA c.(1654-1677)tac>ta p.YGSGGSSY552del NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 552 Gly/Ser-rich.|Tail. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding p.S557_G563delSSYGSGG(3) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 tccggagccgtagctgctacctccggagccatagctgccac 0.688 3 4 --- --- --- --- INO80E 283899 broad.mit.edu 37 16 30007665 30007665 + Frame_Shift_Del DEL A A - TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr16:30007665delA ENST00000563197.1 + 1 1051 c.34delA c.(34-36)aafs p.K14fs INO80E_ENST00000567705.1_Frame_Shift_Del_p.K14fs|INO80E_ENST00000567254.1_Frame_Shift_Del_p.K14fs|INO80E_ENST00000304516.7_Frame_Shift_Del_p.K14fs|HIRIP3_ENST00000279392.3_5'UTR|INO80E_ENST00000563040.1_3'UTR NM_173618.1 NP_775889.1 Q8NBZ0 IN80E_HUMAN INO80 complex subunit E 14 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 6 AGTGGACTACAAAAAAAAATA 0.632 2 4 --- --- --- --- FRG1BP 284802 broad.mit.edu 37 20 29628226 29628226 + Splice_Site DEL G G - rs78710112 by1000genomes TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 95d751ac-600e-4020-acba-eabb0c007b98 g.chr20:29628226delG ENST00000278882.3 + 6 608 c.e6-1 FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTTTCACTTAGGGGAAAATGG 0.358 11 99 --- --- --- --- INO80E 283899 broad.mit.edu 37 16 30007665 30007665 + Frame_Shift_Del DEL A A - TCGA-P8-A5KC-01A-11D-A35D-08 TCGA-P8-A5KC-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 38099922-86e9-42a0-853b-b968e60ca1d9 53974e4d-8f60-42da-99b9-e07513f66e3e g.chr16:30007665delA ENST00000563197.1 + 1 1051 c.34delA c.(34-36)aafs p.K14fs INO80E_ENST00000567705.1_Frame_Shift_Del_p.K14fs|INO80E_ENST00000304516.7_Frame_Shift_Del_p.K14fs|INO80E_ENST00000567254.1_Frame_Shift_Del_p.K14fs|HIRIP3_ENST00000279392.3_5'UTR|INO80E_ENST00000563040.1_3'UTR NM_173618.1 NP_775889.1 Q8NBZ0 IN80E_HUMAN INO80 complex subunit E 14 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 6 AGTGGACTACAAAAAAAAATA 0.632 2 4 --- --- --- ---