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 C4B 721 broad.mit.edu 37 6 31997537 31997537 + Missense_Mutation SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr6:31997537C>T ENST00000435363.2 + 29 3955 c.3871C>T c.(3871-3873)Cgt>Tgt p.R1291C C4B_ENST00000425700.2_Missense_Mutation_p.R1291C NM_001002029.3 NP_001002029.3 P0C0L5 CO4B_HUMAN complement component 4B (Chido blood group) 1291 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity CTGGCTCACCCGTCAGGGCAG 0.652000 10 165 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32972827 32972827 + Missense_Mutation SNP G G C TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr13:32972827G>C ENST00000544455.1 + 27 10404 c.10177G>C c.(10177-10179)Gaa>Caa p.E3393Q BRCA2_ENST00000380152.3_Missense_Mutation_p.E3393Q NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 3393 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TCTGATCAAAGAACAGGAGAG 0.388000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 18 76 0 0 1 0 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 5 155 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169196507 169196507 + Missense_Mutation SNP C C T rs145382015 TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr4:169196507C>T ENST00000393743.3 - 16 2584 c.2293G>A c.(2293-2295)Gac>Aac p.D765N NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 765 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TGCCATGTGTCGGGAATAAAA 0.403000 4 127 0 0 1 0 0 PPP1R10 5514 broad.mit.edu 37 6 30576880 30576880 + Silent SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr6:30576880C>T ENST00000376511.2 - 4 720 c.168G>A c.(166-168)caG>caA p.Q56Q NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 56 Interaction with TOX4 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 GTGAACGGGTCTGCAGGAGAA 0.488000 42 112 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44683556 44683556 + Splice_Site SNP A A G TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr20:44683556A>G ENST00000454036.1 + 21 2826 c.2748_splice c.e21-1 p.H917_splice SLC12A5_ENST00000243964.3_Splice_Site_p.H894_splice NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 917 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) TGCCCACAGCATGAGAGCGAC 0.547000 23 27 0 0 1 0 0 PTGDS 5730 broad.mit.edu 37 9 139874684 139874684 + Missense_Mutation SNP C C G TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr9:139874684C>G ENST00000224167.2 + 5 675 c.600C>G c.(598-600)ttC>ttG p.F200L PTGDS_ENST00000371625.3_Missense_Mutation_p.F166L P41222 PTGDS_HUMAN prostaglandin D2 synthase 21kDa (brain) 166 prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity endometrium(2)|kidney(1)|lung(3)|ovary(1) 7 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) TCACCGCCTTCTGCAAGGCCC 0.597000 16 47 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109382704 109382704 + Silent SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr2:109382704G>A ENST00000283195.6 + 20 5835 c.5709G>A c.(5707-5709)tcG>tcA p.S1903S NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1903 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TTGGCATTTCGGAACCAGGAA 0.403000 113 388 0 0 1 0 0 ZNF131 7690 broad.mit.edu 37 5 43174753 43174753 + Missense_Mutation SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr5:43174753G>A ENST00000509634.1 + 7 1744 c.1288G>A c.(1288-1290)Gaa>Aaa p.E430K ZNF131_ENST00000505606.2_Missense_Mutation_p.E430K|ZNF131_ENST00000509156.1_Missense_Mutation_p.E464K|ZNF131_ENST00000399534.1_Missense_Mutation_p.E464K|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000306938.4_Missense_Mutation_p.E430K P52739 ZN131_HUMAN zinc finger protein 131 464 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 17 TGTGCAAACTGAACCTGTAAC 0.423000 29 124 0 0 1 0 0 TTYH1 57348 broad.mit.edu 37 19 54930406 54930406 + Silent SNP C C T rs148537788 TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr19:54930406C>T ENST00000301194.4 + 2 353 c.231C>T c.(229-231)ccC>ccT p.P77P TTYH1_ENST00000391739.3_Silent_p.P126P|TTYH1_ENST00000376531.3_Silent_p.P77P|TTYH1_ENST00000376530.3_Silent_p.P77P Q9H313 TTYH1_HUMAN tweety family member 1 77 cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) CCCCCGAGCCCCCCGGGTCCA 0.697000 16 47 0 0 1 0 0 ANO7 50636 broad.mit.edu 37 2 242142813 242142813 + Missense_Mutation SNP C C G TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr2:242142813C>G ENST00000274979.8 + 9 1054 c.951C>G c.(949-951)ttC>ttG p.F317L ANO7_ENST00000402430.3_Missense_Mutation_p.F316L NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 317 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 AAGTCCTTTTCCAGCACTGGG 0.687000 4 11 0 0 1 0 0 HMGN2P46 283651 broad.mit.edu 37 15 45848224 45848224 + RNA SNP G G T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr15:45848224G>T ENST00000409454.1 + 0 1219 TGCAGATTTTGTTTAGCTTTT 0.318000 6 25 5.18039e-06 5.3475e-06 1 1 0 ENTHD1 150350 broad.mit.edu 37 22 40139838 40139838 + Missense_Mutation SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr22:40139838C>T ENST00000325157.6 - 7 1920 c.1670G>A c.(1669-1671)cGt>cAt p.R557H NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 557 breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) AGCGATCGCACGTTTTACCTC 0.403000 17 65 0 0 1 0 0 CLCC1 23155 broad.mit.edu 37 1 109477468 109477468 + Missense_Mutation SNP C C T rs144141792 byFrequency TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr1:109477468C>T ENST00000369971.2 - 11 1609 c.1480G>A c.(1480-1482)Gcc>Acc p.A494T CLCC1_ENST00000356970.2_Missense_Mutation_p.A494T|CLCC1_ENST00000348264.2_Missense_Mutation_p.A309T|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000302500.4_Missense_Mutation_p.A373T|CLCC1_ENST00000415331.1_Missense_Mutation_p.A444T|CLCC1_ENST00000369968.2_Missense_Mutation_p.A309T|CLCC1_ENST00000369969.2_Missense_Mutation_p.A373T|CLCC1_ENST00000369970.3_Missense_Mutation_p.A444T NM_001048210.1 NP_001041675.1 Q96S66 CLCC1_HUMAN chloride channel CLIC-like 1 494 endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1) 14 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) ACAGGCTTGGCCGACTGGCTG 0.542000 4 142 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50052279 50052279 + Silent SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chrX:50052279G>A ENST00000376042.1 + 6 1408 c.1110G>A c.(1108-1110)aaG>aaA p.K370K CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Silent_p.K370K|CCNB3_ENST00000348603.2_Intron Q8WWL7 CCNB3_HUMAN cyclin B3 370 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) TAGCCTTTAAGAAGAAGCCTA 0.458000 18 70 0 0 1 0 0 PLEK 5341 broad.mit.edu 37 2 68607996 68607996 + Missense_Mutation SNP A A T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr2:68607996A>T ENST00000234313.7 + 3 519 c.340A>T c.(340-342)Acc>Tcc p.T114S NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 114 actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) CAGGAAATCTACCAGGAGGTC 0.463000 52 190 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr3:178936082G>A ENST00000263967.3 + 10 1781 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 542 PI3K helical. E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(545)|p.E542Q(10) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333000 E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 19 59 0 0 1 0 0 OR1L8 138881 broad.mit.edu 37 9 125330480 125330480 + Missense_Mutation SNP T T C TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr9:125330480T>C ENST00000304865.2 - 1 358 c.277A>G c.(277-279)Atc>Gtc p.I93V NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 GCATAGGAGATGGTCTTCTTT 0.453000 23 59 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22157019 22157019 + Missense_Mutation SNP T T A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr19:22157019T>A ENST00000397126.4 - 4 965 c.817A>T c.(817-819)Act>Tct p.T273S ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TTATGTTTAGTAAGGATTGCA 0.358000 18 74 0 0 1 0 0 MUM1L1 139221 broad.mit.edu 37 X 105451255 105451255 + Silent SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chrX:105451255G>A ENST00000337685.2 + 5 2615 c.1830G>A c.(1828-1830)gtG>gtA p.V610V MUM1L1_ENST00000372552.1_Silent_p.V610V|MUM1L1_ENST00000357175.2_Silent_p.V610V NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 610 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 ATGAAGTGGTGAAATATTTAC 0.333000 9 32 0 0 1 0 0 SS18 6760 broad.mit.edu 37 18 23619391 23619391 + Missense_Mutation SNP G G C TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr18:23619391G>C ENST00000415083.2 - 6 692 c.637C>G c.(637-639)Cag>Gag p.Q213E SS18_ENST00000545952.1_Missense_Mutation_p.Q161E|SS18_ENST00000542743.1_Missense_Mutation_p.Q161E|SS18_ENST00000539849.1_Missense_Mutation_p.Q131E|SS18_ENST00000269137.7_Missense_Mutation_p.Q213E|SS18_ENST00000542420.2_Missense_Mutation_p.Q190E|SS18_ENST00000585241.1_5'UTR NM_001007559.1|NM_005637.2 NP_001007560.1|NP_005628.2 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 213 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding p.Q213E(1) SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12) endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1) 19 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) TTGTATTGCTGAGAAGGAGGC 0.408000 T """SSX1, SSX2""" synovial sarcoma 25 115 0 0 1 0 0 TALDO1 6888 broad.mit.edu 37 11 763501 763501 + Missense_Mutation SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr11:763501G>A ENST00000319006.3 + 5 772 c.619G>A c.(619-621)Gag>Aag p.E207K TALDO1_ENST00000528097.1_Missense_Mutation_p.E207K P37837 TALDO_HUMAN transaldolase 1 207 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2) 14 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712) GAAATCCTATGAGCCCCTGGA 0.612000 56 221 0 0 1 0 0 KIAA0754 643314 broad.mit.edu 37 1 39877390 39877390 + Missense_Mutation SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr1:39877390G>A ENST00000530275.1 + 1 1240 c.1045G>A c.(1045-1047)Gag>Aag p.E349K MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 349 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCCTCTAGTTGAGCTACAGAA 0.418000 21 63 0 0 1 0 0 EPHB4 2050 broad.mit.edu 37 7 100410411 100410411 + Silent SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr7:100410411G>A ENST00000358173.3 - 12 2544 c.2076C>T c.(2074-2076)ctC>ctT p.L692L EPHB4_ENST00000360620.3_Silent_p.L692L NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 692 Protein kinase. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) TGAACTCTGTGAGAATCATGA 0.617000 15 55 0 0 1 0 0 PALM2 114299 broad.mit.edu 37 9 112705410 112705410 + Missense_Mutation SNP T T A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr9:112705410T>A ENST00000448454.2 + 8 947 c.947T>A c.(946-948)tTt>tAt p.F316Y PALM2_ENST00000374531.2_Missense_Mutation_p.F282Y|PALM2_ENST00000483909.1_Missense_Mutation_p.F280Y|PALM2_ENST00000314527.4_Missense_Mutation_p.F314Y|AKAP2_ENST00000510514.5_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000555236.1_Intron|PALM2-AKAP2_ENST00000302798.7_Intron paralemmin 2 breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 18 ACCATGATTTTTATGGGCTAC 0.512000 22 67 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96521762 96521762 + Missense_Mutation SNP T T A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr2:96521762T>A ENST00000456556.1 - 63 4331 c.4247A>T c.(4246-4248)aAg>aTg p.K1416M ANKRD36C_ENST00000420871.2_Missense_Mutation_p.K667M|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.K443M ankyrin repeat domain 36C breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTTTAGAGCCTTTTGAAGGTC 0.388000 3 23 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236749198 236749198 + Silent SNP G G T rs140333539 TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr1:236749198G>T ENST00000366582.3 - 16 2085 c.1971C>A c.(1969-1971)atC>atA p.I657I HEATR1_ENST00000366581.2_Silent_p.I657I NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 657 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TTGCTACACCGATTAGTTTTC 0.348000 15 51 1.3612e-06 1.42815e-06 1 1 0 ASXL3 80816 broad.mit.edu 37 18 31325299 31325299 + Missense_Mutation SNP G G C TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr18:31325299G>C ENST00000269197.5 + 12 5487 c.5487G>C c.(5485-5487)aaG>aaC p.K1829N NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1829 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ACCCCAAAAAGAGAGTAGCTA 0.473000 70 215 0 0 1 0 0 TALDO1 6888 broad.mit.edu 37 11 763491 763491 + Silent SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr11:763491G>A ENST00000319006.3 + 5 762 c.609G>A c.(607-609)aaG>aaA p.K203K TALDO1_ENST00000528097.1_Silent_p.K203K P37837 TALDO_HUMAN transaldolase 1 203 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2) 14 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712) ACACCGACAAGAAATCCTATG 0.602000 57 237 0 0 1 0 0 GNAI2 2771 broad.mit.edu 37 3 50289829 50289829 + Splice_Site SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr3:50289829G>A ENST00000313601.6 + 3 546 c.161_splice c.e3-1 p.K54_splice GNAI2_ENST00000440628.1_Splice_Site_p.K2_splice|GNAI2_ENST00000451956.1_Splice_Site_p.K17_splice|GNAI2_ENST00000266027.5_Splice_Site_p.K38_splice|GNAI2_ENST00000536647.1_5'UTR|GNAI2_ENST00000422163.1_Splice_Site_p.K38_splice|GNAI2_ENST00000491100.1_3'UTR NM_002070.2 NP_002061.1 P04899 GNAI2_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 54 adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651) TGGCTATCAGGATCATCCACG 0.587000 19 61 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7699805 7699805 + Silent SNP C C T rs148588175 byFrequency TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr17:7699805C>T ENST00000572933.1 + 50 9158 c.7698C>T c.(7696-7698)ttC>ttT p.F2566F DNAH2_ENST00000389173.2_Silent_p.F2566F Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2566 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TCCGCATATTCGGCACCATGA 0.542000 16 54 0 0 1 0 0 EIF2A 83939 broad.mit.edu 37 3 150301645 150301645 + Nonsense_Mutation SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr3:150301645C>T ENST00000460851.1 + 14 1814 c.1705C>T c.(1705-1707)Cag>Tag p.Q569* EIF2A_ENST00000273435.5_Nonsense_Mutation_p.Q564*|EIF2A_ENST00000383043.3_Nonsense_Mutation_p.Q355*|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000487799.1_Nonsense_Mutation_p.Q544*|EIF2A_ENST00000406576.3_Nonsense_Mutation_p.Q508*|EIF2A_ENST00000482471.1_3'UTR|SERP1_ENST00000479209.1_Intron Q9BY44 EIF2A_HUMAN eukaryotic translation initiation factor 2A, 65kDa 569 regulation of translation|ribosome assembly eukaryotic translation initiation factor 2 complex ribosome binding|translation initiation factor activity|tRNA binding cervix(1)|endometrium(2)|kidney(1)|lung(3) 7 Melanoma(1037;0.0575) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GGAGAAAATTCAGAAAGAAAC 0.328000 8 28 0 0 1 0 0 GRAP2 9402 broad.mit.edu 37 22 40364245 40364245 + Missense_Mutation SNP A A T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr22:40364245A>T ENST00000344138.4 + 6 922 c.659A>T c.(658-660)cAg>cTg p.Q220L GRAP2_ENST00000399090.2_Missense_Mutation_p.Q107L|GRAP2_ENST00000540310.1_Missense_Mutation_p.Q154L|GRAP2_ENST00000544756.1_Missense_Mutation_p.Q148L|GRAP2_ENST00000407075.3_Missense_Mutation_p.Q220L|GRAP2_ENST00000543252.1_Missense_Mutation_p.Q180L NM_004810.2 NP_004801.1 O75791 GRAP2_HUMAN GRB2-related adaptor protein 2 220 cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway cytosol SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 cccccacagcagcgatatctg 0.642000 7 37 0 0 1 0 0 TALDO1 6888 broad.mit.edu 37 11 763465 763465 + Missense_Mutation SNP G G C TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr11:763465G>C ENST00000319006.3 + 5 736 c.583G>C c.(583-585)Gat>Cat p.D195H TALDO1_ENST00000528097.1_Missense_Mutation_p.D195H P37837 TALDO_HUMAN transaldolase 1 195 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2) 14 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712) GCGCATCCTTGATTGGCATGT 0.577000 58 258 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839353 62839353 + Silent SNP A A G TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr20:62839353A>G ENST00000536311.1 + 7 1168 c.804A>G c.(802-804)gaA>gaG p.E268E MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E268E Q01538 MYT1_HUMAN myelin transcription factor 1 268 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E268E(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaggaggaagaggaggagg 0.572000 3 27 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107688432 107688432 + Missense_Mutation SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr7:107688432G>A ENST00000388781.3 - 28 4330 c.4247C>T c.(4246-4248)aCg>aTg p.T1416M LAMB4_ENST00000205386.4_Missense_Mutation_p.T1416M|LAMB4_ENST00000388780.3_Missense_Mutation_p.T1416M NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1416 Domain I. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GAGGGCATTCGTTGAGAGGGT 0.532000 7 166 0 0 1 0 0 ACRC 93953 broad.mit.edu 37 X 70823900 70823900 + Missense_Mutation SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chrX:70823900G>A ENST00000373695.1 + 7 1310 c.773G>A c.(772-774)aGc>aAc p.S258N ACRC_ENST00000373696.3_Missense_Mutation_p.S258N Q96QF7 ACRC_HUMAN acidic repeat containing 258 Asp/Ser-rich. nucleus p.S258N(2) autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) CCCGACGACAGCAGTGATGAT 0.557000 7 255 0 0 1 0 0 FBXO32 114907 broad.mit.edu 37 8 124515703 124515703 + Splice_Site SNP C C A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr8:124515703C>A ENST00000517956.1 - 9 1170 c.e9-1 FBXO32_ENST00000443022.2_Splice_Site NM_058229.3|NM_148177.2 NP_478136.1|NP_680482.1 Q969P5 FBX32_HUMAN F-box protein 32 autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1) 21 Lung NSC(37;1.13e-13)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GGTCAGTGCCCTGGAAAGGAA 0.468000 4 59 2.56e-06 2.66407e-06 1 1 0 COL20A1 57642 broad.mit.edu 37 20 61943054 61943054 + Silent SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr20:61943054G>A ENST00000422202.1 + 12 1706 c.1638G>A c.(1636-1638)ctG>ctA p.L546L COL20A1_ENST00000326996.6_Silent_p.L539L|COL20A1_ENST00000435874.1_Silent_p.L546L|COL20A1_ENST00000358894.6_Silent_p.L539L Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 539 Fibronectin type-III 3. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) TGCAGAGCCTGCGAGGCCCTG 0.697000 11 13 0 0 1 0 0 CD300LF 146722 broad.mit.edu 37 17 72691256 72691256 + Nonsense_Mutation SNP G G T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr17:72691256G>T ENST00000326165.6 - 7 963 c.852C>A c.(850-852)taC>taA p.Y284* RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000343125.4_3'UTR|CD300LF_ENST00000361254.4_3'UTR|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000469092.1_3'UTR|CD300LF_ENST00000301573.9_3'UTR|CD300LF_ENST00000464910.1_Nonsense_Mutation_p.Y287*|CD300LF_ENST00000583937.1_Nonsense_Mutation_p.Y299* NM_139018.3 NP_620587.2 Q8TDQ1 CLM1_HUMAN CD300 molecule-like family member f 284 integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TGATGGTGCTGTATTCCGTGG 0.637000 8 49 0.00307968 0.00307968 1 1 0 LRRN4 164312 broad.mit.edu 37 20 6032876 6032876 + Silent SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr20:6032876G>A ENST00000378858.4 - 2 794 c.570C>T c.(568-570)atC>atT p.I190I NM_152611.4 NP_689824.2 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 190 integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 CCGCCTCGGCGATGCCCCCCT 0.731000 6 10 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61830997 61830997 + Silent SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr10:61830997C>T ENST00000280772.1 - 37 9833 c.9642G>A c.(9640-9642)aaG>aaA p.K3214K ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3214 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GGGAGGTTGACTTGGCCTGTT 0.473000 27 156 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509636 106509636 + Nonsense_Mutation SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr7:106509636C>T ENST00000359195.3 + 2 1940 c.1630C>T c.(1630-1632)Cga>Tga p.R544* PIK3CG_ENST00000496166.1_Nonsense_Mutation_p.R544*|PIK3CG_ENST00000440650.2_Nonsense_Mutation_p.R544* NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 544 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 GGACCGGGTTCGAGCAGAAAT 0.542000 29 75 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 27 86 0 0 1 0 0 ATP6V1C1 528 broad.mit.edu 37 8 104061168 104061168 + Missense_Mutation SNP C C A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr8:104061168C>A ENST00000395862.3 + 4 430 c.271C>A c.(271-273)Ctg>Atg p.L91M ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.L16M|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.L16M|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.L91M NM_001695.4 NP_001686.1 P21283 VATC1_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 91 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1) 13 Lung NSC(17;0.000427)|all_lung(17;0.000533) OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133) TCAAGAGAATCTGTTGGCTAA 0.333000 38 60 1.07637e-12 1.13864e-12 1 1 0 DOT1L 84444 broad.mit.edu 37 19 2220106 2220106 + Splice_Site SNP G G C TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr19:2220106G>C ENST00000398665.3 + 23 2727 c.e23-1 NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCTCTCTGCAGAGGAGCACCC 0.622000 8 34 0 0 1 0 0 BEND7 222389 broad.mit.edu 37 10 13538828 13538828 + Nonsense_Mutation SNP G G C TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr10:13538828G>C ENST00000341083.3 - 4 649 c.353C>G c.(352-354)tCa>tGa p.S118* BEND7_ENST00000378605.3_Nonsense_Mutation_p.S131*|BEND7_ENST00000396898.2_Nonsense_Mutation_p.S183*|BEND7_ENST00000396900.2_Nonsense_Mutation_p.S170* NM_152751.2 NP_689964.2 Q8N7W2 BEND7_HUMAN BEN domain containing 7 170 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1) 17 CTGCAACGTTGACTGGCAGTT 0.423000 26 83 0 0 1 0 0 LAG3 3902 broad.mit.edu 37 12 6883996 6883996 + Missense_Mutation SNP C C G TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr12:6883996C>G ENST00000203629.2 + 4 1080 c.747C>G c.(745-747)ttC>ttG p.F249L LAG3_ENST00000441671.2_Missense_Mutation_p.F249L NM_002286.5 NP_002277.4 P18627 LAG3_HUMAN lymphocyte-activation gene 3 249 Ig-like C2-type 1. integral to membrane antigen binding|MHC class II protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 GAGATGGCTTCAACGTCTCCA 0.567000 21 79 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134993810 134993810 + Nonsense_Mutation SNP C C G TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chrX:134993810C>G ENST00000535938.1 + 18 2386 c.2219C>G c.(2218-2220)tCa>tGa p.S740* SAGE1_ENST00000324447.3_Nonsense_Mutation_p.S740*|SAGE1_ENST00000370709.3_Nonsense_Mutation_p.S740*|SAGE1_ENST00000537770.1_Nonsense_Mutation_p.S364* NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 740 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) GGCTTCCTGTCAAATTCTGAT 0.423000 66 240 0 0 1 0 0 TNFRSF6B 8771 broad.mit.edu 37 20 62328212 62328212 + Missense_Mutation SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr20:62328212C>T ENST00000369996.1 + 1 192 c.92C>T c.(91-93)gCa>gTa p.A31V RTEL1_ENST00000318100.4_Silent_p.G1333G|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.G1333G NM_003823.3 NP_003814.1 O95407 TNF6B_HUMAN tumor necrosis factor receptor superfamily, member 6b, decoy 31 anti-apoptosis|apoptosis extracellular region|soluble fraction protein binding|receptor activity central_nervous_system(1)|lung(2)|skin(1) 4 all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08) Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504) CGCGGAGTGGCAGAAACACCC 0.716000 4 20 0 0 1 0 0 TENC1 23371 broad.mit.edu 37 12 53449623 53449623 + Missense_Mutation SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr12:53449623C>T ENST00000314250.6 + 10 1045 c.755C>T c.(754-756)tCt>tTt p.S252F TENC1_ENST00000314276.3_Missense_Mutation_p.S262F|TENC1_ENST00000552570.1_Missense_Mutation_p.S252F|TENC1_ENST00000379902.3_Missense_Mutation_p.S128F|TENC1_ENST00000546602.1_Missense_Mutation_p.S252F|TENC1_ENST00000549700.1_Missense_Mutation_p.S252F|TENC1_ENST00000451358.1_Missense_Mutation_p.S252F NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 252 Phosphatase tensin-type. intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 AGCAAGATCTCTGCAGGGTGA 0.597000 48 135 0 0 1 0 0 PLCL2 23228 broad.mit.edu 37 3 17056393 17056393 + Missense_Mutation SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr3:17056393C>T ENST00000418129.2 + 3 3095 c.2630C>T c.(2629-2631)aCt>aTt p.T877I PLCL2_ENST00000432376.1_Missense_Mutation_p.T877I|PLCL2_ENST00000396755.2_Missense_Mutation_p.T877I NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 1003 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 ATCGTAACAACTTATGACATG 0.478000 30 111 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53854494 53854494 + Missense_Mutation SNP C C G rs138639565 by1000genomes TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr19:53854494C>G ENST00000458035.1 + 4 683 c.566C>G c.(565-567)tCt>tGt p.S189C ZNF845_ENST00000595091.1_Missense_Mutation_p.S189C NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 ACCCACATTTCTAAGAACTAT 0.368000 44 147 0 0 1 0 0 U2AF2 11338 broad.mit.edu 37 19 56180837 56180837 + Silent SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr19:56180837C>T ENST00000450554.2 + 11 2019 c.1060C>T c.(1060-1062)Ctg>Ttg p.L354L U2AF2_ENST00000308924.4_Silent_p.L358L|U2AF2_ENST00000590551.1_Silent_p.L190L|CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 358 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) GCCTGTGACCCTGCAAGTGCC 0.657000 10 41 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24310352 24310352 + Missense_Mutation SNP C C G TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr19:24310352C>G ENST00000357002.4 + 4 1665 c.1550C>G c.(1549-1551)cCc>cGc p.P517R ZNF254_ENST00000342944.6_Missense_Mutation_p.P432R NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 517 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) GGAGAGAAACCCTACAAATGT 0.368000 5 160 0 0 1 0 0 MST1L 11223 broad.mit.edu 37 1 17083655 17083655 + RNA SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr1:17083655G>A ENST00000455405.2 - 0 933 tctcaaccttgagtacaagtc 0.393000 5 62 0 0 1 0 0 PDCD6IP 10015 broad.mit.edu 37 3 33870417 33870417 + Missense_Mutation SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr3:33870417G>A ENST00000307296.3 + 7 1167 c.790G>A c.(790-792)Gca>Aca p.A264T PDCD6IP_ENST00000457054.2_Missense_Mutation_p.A269T Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 264 BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 GTCTATCCTGGCAAAACAGCA 0.408000 4 144 0 0 1 0 0 TALDO1 6888 broad.mit.edu 37 11 763351 763351 + Missense_Mutation SNP G G A rs140952110 TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr11:763351G>A ENST00000319006.3 + 5 622 c.469G>A c.(469-471)Gag>Aag p.E157K TALDO1_ENST00000528097.1_Missense_Mutation_p.E157K P37837 TALDO_HUMAN transaldolase 1 157 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2) 14 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712) CAGGGAGCTCGAGGAGCAGCA 0.697000 17 71 0 0 1 0 0 CACTIN 58509 broad.mit.edu 37 19 3626701 3626701 + Missense_Mutation SNP C C G TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr19:3626701C>G ENST00000429344.2 - 1 112 c.60G>C c.(58-60)caG>caC p.Q20H CACTIN_ENST00000221899.3_5'UTR|CACTIN_ENST00000248420.5_Missense_Mutation_p.Q20H NM_001080543.1 NP_001074012.1 cactin, spliceosome C complex subunit CGCTCTGACTCTGCCGCCTTC 0.746000 3 8 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24310305 24310305 + Silent SNP A A G TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr19:24310305A>G ENST00000357002.4 + 4 1618 c.1503A>G c.(1501-1503)caA>caG p.Q501Q ZNF254_ENST00000342944.6_Silent_p.Q416Q NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 501 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) CTTTTAGCCAATCCTCAACCC 0.403000 5 139 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179455354 179455354 + Silent SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr2:179455354G>A ENST00000589042.1 - 304 61322 c.61098C>T c.(61096-61098)tgC>tgT p.C20366C TTN_ENST00000359218.5_Silent_p.C11426C|TTN_ENST00000460472.2_Silent_p.C11301C|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.C11493C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.C18725C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.C17798C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18725 Fibronectin type-III 47. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGATGGGCCGGCAAGCTTTTA 0.433000 4 150 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3614884 3614884 + RNA SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr16:3614884C>T ENST00000301749.7 - 0 559 NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CCCAGCGGGGCATCCGGTGTC 0.672000 13 27 0 0 1 0 0 RAB34 83871 broad.mit.edu 37 17 27042131 27042131 + Nonsense_Mutation SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr17:27042131G>A ENST00000395245.3 - 8 1149 c.523C>T c.(523-525)Cag>Tag p.Q175* RAB34_ENST00000447716.1_Nonsense_Mutation_p.Q232*|RAB34_ENST00000415040.2_Nonsense_Mutation_p.Q153*|RAB34_ENST00000301043.6_Nonsense_Mutation_p.Q175*|RAB34_ENST00000453384.3_Nonsense_Mutation_p.Q233*|RAB34_ENST00000450529.1_Nonsense_Mutation_p.Q167*|RAB34_ENST00000436730.3_Nonsense_Mutation_p.Q175*|RAB34_ENST00000395243.3_Nonsense_Mutation_p.Q167*|RAB34_ENST00000395242.2_Nonsense_Mutation_p.Q176* NM_001256281.1|NM_031934.5 NP_001243210.1|NP_114140.4 Q9BZG1 RAB34_HUMAN RAB34, member RAS oncogene family 175 protein transport|small GTPase mediated signal transduction Golgi apparatus GTP binding endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2) 14 Lung NSC(42;0.00431) AGCGCATACTGAGCAGGGGTC 0.582000 21 80 0 0 1 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24988567 24988567 + Missense_Mutation SNP C C A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr16:24988567C>A ENST00000289968.6 - 3 236 c.167G>T c.(166-168)gGc>gTc p.G56V ARHGAP17_ENST00000303665.5_Missense_Mutation_p.G56V|ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.G56V NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 56 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) GCCATGCTGGCCCTGGAAACA 0.542000 16 46 5.3912e-06 5.52059e-06 1 1 0 HRH3 11255 broad.mit.edu 37 20 60791962 60791962 + Silent SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr20:60791962C>T ENST00000340177.5 - 3 722 c.438G>A c.(436-438)caG>caA p.Q146Q HRH3_ENST00000317393.6_Silent_p.Q146Q NM_007232.2 NP_009163.2 Q9Y5N1 HRH3_HUMAN histamine receptor H3 146 G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion integral to plasma membrane histamine receptor activity breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 9 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;7.08e-07) Histamine Phosphate(DB00667) GCGTGTCACCCTGCTGGGCCC 0.677000 22 27 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145806379 145806379 + Silent SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr8:145806379C>T ENST00000276826.5 - 2 564 c.363G>A c.(361-363)gaG>gaA p.E121E ARHGAP39_ENST00000377307.2_Silent_p.E121E|ARHGAP39_ENST00000540274.1_Silent_p.E121E Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 121 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 CGGGGCTGCTCTCCGCCGAGG 0.711000 6 11 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70512982 70512982 + Silent SNP A A G TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr4:70512982A>G ENST00000503640.1 - 1 436 c.381T>C c.(379-381)gaT>gaC p.D127D UGT2A1_ENST00000286604.4_Silent_p.D127D|UGT2A1_ENST00000512704.1_Silent_p.D127D|UGT2A1_ENST00000514019.1_Silent_p.D127D NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 127 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 TAAGAACGCCATCACAGATCT 0.433000 20 114 0 0 1 0 0 CCDC135 84229 broad.mit.edu 37 16 57758618 57758618 + Missense_Mutation SNP G G C TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr16:57758618G>C ENST00000360716.3 + 13 1850 c.1629G>C c.(1627-1629)gaG>gaC p.E543D CCDC135_ENST00000394337.4_Missense_Mutation_p.E543D|CCDC135_ENST00000336825.8_Missense_Mutation_p.E478D Q8IY82 CC135_HUMAN coiled-coil domain containing 135 543 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 AGCGGGAGGAGACACCCAGGA 0.557000 10 34 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179567232 179567232 + Missense_Mutation SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr2:179567232C>T ENST00000589042.1 - 107 30606 c.30382G>A c.(30382-30384)Gat>Aat p.D10128N TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D9811N|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D8884N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9811 Glu-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGCGGCCATCATTCCTGAAG 0.433000 73 261 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42143085 42143085 + Missense_Mutation SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr15:42143085C>T ENST00000320955.6 - 66 11115 c.10888G>A c.(10888-10890)Gag>Aag p.E3630K NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 3630 PH. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CACCAGCTCTCAGCCTGCTCT 0.667000 4 2 0 0 1 0 0 ADAM8 101 broad.mit.edu 37 10 135083941 135083941 + Missense_Mutation SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr10:135083941C>T ENST00000445355.3 - 16 1758 c.1708G>A c.(1708-1710)Gtg>Atg p.V570M ADAM8_ENST00000415217.3_Missense_Mutation_p.V570M|ADAM8_ENST00000485491.2_Missense_Mutation_p.V531M NM_001109.4 NP_001100.3 B4DVM6 B4DVM6_HUMAN ADAM metallopeptidase domain 8 531 integrin-mediated signaling pathway|proteolysis metalloendopeptidase activity central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2) 17 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05) GCGTGGCACACATCCACGATG 0.662000 18 62 0 0 1 0 0 OR1D2 4991 broad.mit.edu 37 17 2995883 2995883 + Missense_Mutation SNP C C G TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr17:2995883C>G ENST00000331459.1 - 1 407 c.408G>C c.(406-408)atG>atC p.M136I NM_002548.2 NP_002539.2 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, member 2 136 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 GCTTAGGGCTCATGGCTGTGG 0.552000 35 74 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66102290 66102290 + Silent SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr1:66102290G>A ENST00000349533.6 + 20 3275 c.3090G>A c.(3088-3090)gaG>gaA p.E1030E LEPR_ENST00000406510.3_Silent_p.E97E NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 1030 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GCTCATGGGAGATAGAGGCCC 0.388000 57 145 0 0 1 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154987239 154987239 + Missense_Mutation SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr1:154987239G>A ENST00000368426.3 + 3 240 c.103G>A c.(103-105)Gac>Aac p.D35N ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.D35N|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.D69N|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.D35N NM_001256455.1 NP_001243384.1 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 35 BTB. cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CCACCTATGTGACCTCACCAT 0.607000 27 89 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120745 38120745 + Missense_Mutation SNP G G T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr22:38120745G>T ENST00000406386.3 + 7 2437 c.2182G>T c.(2182-2184)Gac>Tac p.D728Y RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 728 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) TGCCCGACGGGACAATCCCAG 0.587000 26 108 4.87955e-14 5.20486e-14 1 1 0 ALPP 250 broad.mit.edu 37 2 233245430 233245430 + Silent SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr2:233245430G>A ENST00000392027.2 + 8 1232 c.963G>A c.(961-963)ctG>ctA p.L321L AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 321 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) TGCGCCTGCTGAGCAGGAACC 0.637000 9 100 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7522148 7522148 + Missense_Mutation SNP C C A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr12:7522148C>A ENST00000313599.3 - 15 3901 c.3844G>T c.(3844-3846)Gtg>Ttg p.V1282L CD163L1_ENST00000416109.2_Missense_Mutation_p.V1292L|CD163L1_ENST00000396630.1_Missense_Mutation_p.V1282L Q9NR16 C163B_HUMAN CD163 molecule-like 1 1282 SRCR 12. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TGACACACCACTTCCGCCTCG 0.632000 24 84 7.4402e-23 8.00291e-23 1 1 0 C6 729 broad.mit.edu 37 5 41199960 41199960 + Missense_Mutation SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr5:41199960C>T ENST00000263413.3 - 4 619 c.355G>A c.(355-357)Gcg>Acg p.A119T C6_ENST00000337836.5_Missense_Mutation_p.A119T NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 119 TSP type-1 2. A -> E (in allotype C6 A; dbSNP:rs1801033). complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) ACCAGAGGCGCAGTGCATGGC 0.453000 20 86 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142176529 142176529 + Silent SNP A A T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr3:142176529A>T ENST00000350721.4 - 45 7693 c.7572T>A c.(7570-7572)ggT>ggA p.G2524G ATR_ENST00000383101.3_Silent_p.G2460G NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2524 PI3K/PI4K. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 TTCCCATAGGACCCATTCCAT 0.393000 Other conserved DNA damage response genes 32 96 0 0 1 0 0 CLASP2 23122 broad.mit.edu 37 3 33602351 33602351 + Missense_Mutation SNP T T A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr3:33602351T>A ENST00000399362.4 - 28 3253 c.2900A>T c.(2899-2901)gAt>gTt p.D967V CLASP2_ENST00000359576.5_Missense_Mutation_p.D959V|CLASP2_ENST00000468888.2_Missense_Mutation_p.D968V|CLASP2_ENST00000539981.1_Missense_Mutation_p.D737V|CLASP2_ENST00000461133.3_Missense_Mutation_p.D727V|CLASP2_ENST00000307312.7_Missense_Mutation_p.D449V|CLASP2_ENST00000480013.1_Missense_Mutation_p.D747V NM_015097.2 NP_055912.2 B2RTR1 B2RTR1_HUMAN cytoplasmic linker associated protein 2 969 breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 48 TCCAAGCAAATCAGCACCCAT 0.338000 5 210 0 0 1 0 0 SLITRK2 84631 broad.mit.edu 37 X 144906469 144906469 + Silent SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chrX:144906469C>T ENST00000370490.1 + 1 6781 c.2526C>T c.(2524-2526)atC>atT p.I842I SLITRK2_ENST00000413937.2_Silent_p.I842I|SLITRK2_ENST00000447897.2_Silent_p.I842I|SLITRK2_ENST00000428560.2_Silent_p.I842I|SLITRK2_ENST00000434188.2_Silent_p.I842I Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 842 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) AAACTGCAATCAGTCAGCTGT 0.448000 30 79 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129371200 129371200 + Nonsense_Mutation SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr6:129371200C>T ENST00000421865.2 + 2 299 c.250C>T c.(250-252)Cga>Tga p.R84* NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 84 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CCCGCAGTGTCGAATCTGCAA 0.458000 24 70 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 4 120 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120199 38120199 + Nonsense_Mutation SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr22:38120199C>T ENST00000406386.3 + 7 1891 c.1636C>T c.(1636-1638)Cga>Tga p.R546* RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 546 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) TAGAGCTGCACGAGACAACCC 0.587000 6 378 0 0 1 0 0 MTDH 92140 broad.mit.edu 37 8 98703324 98703324 + Missense_Mutation SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr8:98703324C>T ENST00000336273.3 + 6 1284 c.956C>T c.(955-957)cCa>cTa p.P319L MTDH_ENST00000519934.1_Missense_Mutation_p.P296L NM_178812.3 NP_848927.2 Q86UE4 LYRIC_HUMAN metadherin 319 lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) AAAACTGAGCCATCTGCCTGG 0.458000 24 105 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175049481 175049481 + Missense_Mutation SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr1:175049481C>T ENST00000239462.4 + 4 1080 c.967C>T c.(967-969)Cct>Tct p.P323S NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 323 Fibronectin type-III 1. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TGGTTTGCTGCCTGGAACCAA 0.532000 6 72 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1585397 1585397 + Missense_Mutation SNP T T C rs148754551 by1000genomes TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr20:1585397T>C ENST00000279477.7 - 3 806 c.742A>G c.(742-744)Acc>Gcc p.T248A RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381605.4_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 248 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.T248A(5) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTCGGATGGTCTCAGACAAG 0.627000 7 98 0 0 1 0 0 PVRL3 25945 broad.mit.edu 37 3 110837604 110837604 + Missense_Mutation SNP G G C TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr3:110837604G>C ENST00000485303.1 + 3 879 c.604G>C c.(604-606)Gca>Cca p.A202P PVRL3_ENST00000319792.3_Missense_Mutation_p.A202P|PVRL3_ENST00000493615.1_Missense_Mutation_p.A179P NM_001243286.1|NM_015480.2 NP_001230215.1|NP_056295.1 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 202 Ig-like C2-type 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3) 19 AAAACCCGTTGCACATATTGA 0.438000 4 107 0 0 1 0 0 AMOTL1 154810 broad.mit.edu 37 11 94599237 94599237 + Missense_Mutation SNP G G C TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr11:94599237G>C ENST00000433060.2 + 11 2533 c.2392G>C c.(2392-2394)Gca>Cca p.A798P AMOTL1_ENST00000317829.8_Missense_Mutation_p.A748P|AMOTL1_ENST00000317837.9_Intron NM_130847.2 NP_570899.1 Q8IY63 AMOL1_HUMAN angiomotin like 1 798 cytoplasm|tight junction identical protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 36 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) TCCATCCATAGCAGCAGCTAC 0.552000 6 82 0 0 1 0 0 FAM53B 9679 broad.mit.edu 37 10 126312058 126312058 + Missense_Mutation SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr10:126312058G>A ENST00000337318.3 - 5 1233 c.1022C>T c.(1021-1023)tCa>tTa p.S341L FAM53B_ENST00000392754.3_Missense_Mutation_p.S341L|RP11-12J10.3_ENST00000494792.1_Intron NM_014661.3 NP_055476.3 Q14153 FA53B_HUMAN family with sequence similarity 53, member B 341 cervix(1)|lung(5)|ovary(2)|pancreas(1) 9 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) GCCGGAGGCTGAGAGCAGGGC 0.716000 5 10 0 0 1 0 0 DUS4L 11062 broad.mit.edu 37 7 107211589 107211589 + Splice_Site SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr7:107211589G>A ENST00000265720.3 + 4 478 c.e4-1 DUS4L_ENST00000402620.1_Splice_Site NM_001270419.1|NM_181581.2 NP_001257348.1|NP_853559.1 O95620 DUS4L_HUMAN dihydrouridine synthase 4-like (S. cerevisiae) tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 TATGCTCACAGGTTGGCTTTT 0.338000 15 62 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111145581 111145581 + Missense_Mutation SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr13:111145581C>T ENST00000360467.5 + 39 3892 c.3586C>T c.(3586-3588)Cgc>Tgc p.R1196C NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1196 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CCGTGGGATCCGCGGCTTACA 0.607000 5 109 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839350 62839350 + Silent SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr20:62839350G>A ENST00000536311.1 + 7 1165 c.801G>A c.(799-801)gaG>gaA p.E267E MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E267E Q01538 MYT1_HUMAN myelin transcription factor 1 267 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaggaggaggaagaggagg 0.577000 3 27 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 99640152 99640152 + Missense_Mutation SNP C C G TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr12:99640152C>G ENST00000547776.2 - 13 2246 c.2247G>C c.(2245-2247)gaG>gaC p.E749D ANKS1B_ENST00000329257.7_Missense_Mutation_p.E749D|ANKS1B_ENST00000547010.1_Missense_Mutation_p.E329D NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 749 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TTGATGTTTTCTCATTGGAAG 0.408000 13 37 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220309638 220309638 + Silent SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr2:220309638C>T ENST00000312358.7 + 3 702 c.570C>T c.(568-570)agC>agT p.S190S SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Silent_p.S86S NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 190 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GGTGGGGCAGCGGGCAGACGG 0.706000 19 78 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36597294 36597294 + Missense_Mutation SNP G G C TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr11:36597294G>C ENST00000299440.5 + 2 2552 c.2440G>C c.(2440-2442)Gag>Cag p.E814Q NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 814 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) CTTCCAGCTAGAGATAGGGGA 0.473000 Familial Hemophagocytic Lymphohistiocytosis 27 79 0 0 1 0 0 CAP1 10487 broad.mit.edu 37 1 40537170 40537170 + Missense_Mutation SNP A A C TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr1:40537170A>C ENST00000372797.3 + 13 1954 c.1393A>C c.(1393-1395)Aag>Cag p.K465Q CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000372802.1_Missense_Mutation_p.K464Q|CAP1_ENST00000372792.2_Missense_Mutation_p.K465Q|CAP1_ENST00000372798.1_Missense_Mutation_p.K464Q|CAP1_ENST00000372805.3_Missense_Mutation_p.K465Q|CAP1_ENST00000340450.3_Missense_Mutation_p.K464Q NM_001105530.1|NM_006367.3 NP_001099000.1|NP_006358.1 Q01518 CAP1_HUMAN CAP, adenylate cyclase-associated protein 1 (yeast) 465 activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction plasma membrane actin binding endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GAACGGGCAGAAGTTGGTCAC 0.463000 14 38 0 0 1 0 0 BAIAP2L1 55971 broad.mit.edu 37 7 97922852 97922852 + Missense_Mutation SNP G G C TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr7:97922852G>C ENST00000005260.8 - 14 1732 c.1517C>G c.(1516-1518)tCg>tGg p.S506W NM_018842.4 NP_061330.2 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 506 Binds F-actin. filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1) 23 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) GATGGGTGCCGAGCGATCATT 0.562000 30 138 0 0 1 0 0 COG8 84342 broad.mit.edu 37 16 69370549 69370549 + Silent SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr16:69370549C>T ENST00000306875.4 - 2 558 c.444G>A c.(442-444)cgG>cgA p.R148R RP11-343C2.7_ENST00000564737.1_3'UTR|RP11-343C2.9_ENST00000563634.1_Silent_p.R23R|COG8_ENST00000562081.1_Silent_p.R148R NM_032382.4 NP_115758.3 Q96MW5 COG8_HUMAN component of oligomeric golgi complex 8 148 protein transport Golgi membrane|Golgi transport complex breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1) 9 TTTCTGTGTGCCGGTTTAGGG 0.478000 4 114 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23543326 23543326 + Missense_Mutation SNP T T C TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr19:23543326T>C ENST00000300619.7 - 4 2660 c.2455A>G c.(2455-2457)Att>Gtt p.I819V ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.I787V NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 819 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CCAGTATGAATTGTCTTATGC 0.398000 28 102 0 0 1 0 0 S100A10 6281 broad.mit.edu 37 1 151955683 151955683 + Missense_Mutation SNP T T A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr1:151955683T>A ENST00000368811.3 - 3 909 c.250A>T c.(250-252)Aat>Tat p.N84Y S100A10_ENST00000368809.1_Missense_Mutation_p.N84Y NM_002966.2 NP_002957.1 P60903 S10AA_HUMAN S100 calcium binding protein A10 84 signal transduction calcium ion binding|receptor binding breast(1)|kidney(1)|lung(2)|ovary(2) 6 Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) AAATAGTCATTGCATGCAATG 0.473000 49 167 0 0 1 0 0 TAS1R1 80835 broad.mit.edu 37 1 6635087 6635087 + Missense_Mutation SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr1:6635087G>A ENST00000333172.6 + 3 1088 c.895G>A c.(895-897)Gcc>Acc p.A299T TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Missense_Mutation_p.A299T NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste receptor, type 1, member 1 299 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) GGTGTGGGTCGCCTCAGAAGC 0.647000 15 45 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48139103 48139103 + Missense_Mutation SNP T T A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr16:48139103T>A ENST00000311303.3 - 19 2965 c.2620A>T c.(2620-2622)Acc>Tcc p.T874S ABCC12_ENST00000448542.1_Missense_Mutation_p.T871S|ABCC12_ENST00000416054.1_3'UTR NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 874 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) GTGGTCTTGGTGAAGACGAAG 0.527000 33 129 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29599100 29599100 + Nonsense_Mutation SNP C C T TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr13:29599100C>T ENST00000431530.3 + 1 353 c.295C>T c.(295-297)Cag>Tag p.Q99* NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 89 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GAAAGGCTCTCAGGCTGGCTC 0.463000 7 25 0 0 1 0 0 RFX3 5991 broad.mit.edu 37 9 3225217 3225217 + Missense_Mutation SNP G G C TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr9:3225217G>C ENST00000382004.3 - 18 2386 c.2075C>G c.(2074-2076)gCc>gGc p.A692G NM_134428.1 NP_602304.1 P48380 RFX3_HUMAN regulatory factor X, 3 (influences HLA class II expression) 692 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) CTCTCTTTTGGCTTGAGGCTC 0.468000 80 40 0 0 1 0 0 GOLPH3 64083 broad.mit.edu 37 5 32126603 32126603 + Silent SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr5:32126603G>A ENST00000265070.6 - 4 927 c.612C>T c.(610-612)ctC>ctT p.L204L NM_022130.3 NP_071413.1 Q9H4A6 GOLP3_HUMAN golgi phosphoprotein 3 (coat-protein) 204 cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network protein binding kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 TGTTATTGGTGAGGGGATGTG 0.458000 46 171 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49631663 49631663 + Missense_Mutation SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr19:49631663G>A ENST00000334186.4 + 3 629 c.280G>A c.(280-282)Gag>Aag p.E94K PPFIA3_ENST00000602351.1_Missense_Mutation_p.E94K NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 94 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) CTTATGTCGGGAGCAGCTGCT 0.582000 15 82 0 0 1 0 0 MRAP 56246 broad.mit.edu 37 21 33671366 33671366 + Silent SNP G G A TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr21:33671366G>A ENST00000399784.2 + 3 271 c.84G>A c.(82-84)gaG>gaA p.E28E MRAP_ENST00000399786.3_Silent_p.E28E|MRAP_ENST00000497833.1_Intron|MRAP_ENST00000303645.5_Silent_p.E28E|MRAP_ENST00000339944.4_Silent_p.E28E NM_178817.3 NP_848932.1 Q8TCY5 MRAP_HUMAN melanocortin 2 receptor accessory protein 28 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding endometrium(1)|large_intestine(2)|lung(3) 6 CCGTGGACGAGAAGAAGCTGA 0.577000 5 38 0 0 1 0 0 RFPL3 10738 broad.mit.edu 37 22 32754256 32754256 + Silent SNP G G A rs61729170 byFrequency TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr22:32754256G>A ENST00000249007.4 + 1 403 c.198G>A c.(196-198)tcG>tcA p.S66S RFPL3_ENST00000397468.1_Silent_p.S37S|RFPL3_ENST00000382088.3_Silent_p.S37S NM_001098535.1 NP_001092005.1 O75679 RFPL3_HUMAN ret finger protein-like 3 66 zinc ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 GCATCAATTCGCTGCAGAAGG 0.537000 4 134 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24469021 24469023 + In_Frame_Del DEL GTC GTC - TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr2:24469021_24469023delGTC ENST00000355123.4 - 29 3995_3997 c.3552_3554delGAC c.(3550-3555)aca>ac p.TT1184del ITSN2_ENST00000406921.3_In_Frame_Del_p.TT1184del|ITSN2_ENST00000361999.3_In_Frame_Del_p.TT1157del NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 1184 SH3 5. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATCTGAGTCTGTCGTCATCTTAA 0.384 37 138 --- --- --- --- IGKV1D-8 28904 broad.mit.edu 37 2 90259860 90259861 + RNA INS - - C TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr2:90259860_90259861insC ENST00000471857.1 + 0 236 AATTTACTCAGCCAATGTGCTC 0.480 7 251 --- --- --- --- C11orf70 85016 broad.mit.edu 37 11 101937227 101937227 + Frame_Shift_Del DEL A A - TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr11:101937227delA ENST00000434758.2 + 4 308 c.280delA c.(280-282)aafs p.K95fs C11orf70_ENST00000526781.1_Frame_Shift_Del_p.K95fs|C11orf70_ENST00000534360.1_Intron NM_032930.2 NP_116319.2 Q9BRQ4 CK070_HUMAN chromosome 11 open reading frame 70 95 breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2) 12 all_epithelial(12;0.0137) Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0335) AACTGAAGTGAAAAAAATTGA 0.284 7 1431 --- --- --- --- TAF1C 9013 broad.mit.edu 37 16 84212717 84212717 + Frame_Shift_Del DEL T T - TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr16:84212717delT ENST00000567759.1 - 14 2622 c.2440delA c.(2440-2442)tgfs p.M814fs TAF1C_ENST00000341690.6_Frame_Shift_Del_p.M720fs|TAF1C_ENST00000541676.1_Frame_Shift_Del_p.M721fs|TAF1C_ENST00000566732.1_Frame_Shift_Del_p.M788fs|TAF1C_ENST00000570117.1_Frame_Shift_Del_p.M482fs|TAF1C_ENST00000378541.4_Frame_Shift_Del_p.M814fs NM_005679.3 NP_005670.3 Q15572 TAF1C_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa 814 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 TCACGGAGCATCTGCCGCTGC 0.692 11 26 --- --- --- --- LONP1 9361 broad.mit.edu 37 19 5692088 5692089 + Frame_Shift_Ins INS - - AA TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr19:5692088_5692089insAA ENST00000360614.3 - 18 2991_2992 c.2834_2835insTT c.(2833-2835)agcfs p.S945fs LONP1_ENST00000593119.1_Frame_Shift_Ins_p.S881fs|LONP1_ENST00000585374.1_Frame_Shift_Ins_p.S831fs|LONP1_ENST00000590729.1_Frame_Shift_Ins_p.S815fs|LONP1_ENST00000540670.2_Frame_Shift_Ins_p.S749fs NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 945 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CCGGGAAGGCGATGTCGAAGAT 0.649 29 149 --- --- --- --- C19orf43 79002 broad.mit.edu 37 19 12845461 12845461 + Frame_Shift_Del DEL C C - TCGA-UF-A7JV-01A-11D-A34J-08 TCGA-UF-A7JV-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4c824fe0-b5bb-4b9b-8104-2917473db2d5 058b3a27-6dcc-4456-9bcf-8bf795340434 g.chr19:12845461delC ENST00000242784.4 - 1 128 c.11delG c.(10-12)cafs p.R4fs C19orf43_ENST00000588213.1_Frame_Shift_Del_p.R4fs|C19orf43_ENST00000592273.1_Frame_Shift_Del_p.R4fs NM_024038.2 NP_076943.1 Q9BQ61 CS043_HUMAN chromosome 19 open reading frame 43 4 endometrium(2)|large_intestine(2) 4 CCGTCTCCCTCGGGCAGCCAT 0.751 2 4 --- --- --- ---