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 TGFBR3 7049 broad.mit.edu 37 1 92195471 92195471 + Missense_Mutation SNP C C T TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr1:92195471C>T ENST00000212355.4 - 6 1093 c.628G>A c.(628-630)Gct>Act p.A210T TGFBR3_ENST00000370399.2_Missense_Mutation_p.A210T|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000525962.1_Missense_Mutation_p.A210T NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 210 BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) AGGTACTCAGCAAGGTAATTG 0.473 53 101 --- --- --- --- HIST2H2AC 8338 broad.mit.edu 37 1 149858895 149858895 + Missense_Mutation SNP A A G TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr1:149858895A>G ENST00000331380.2 + 1 371 c.371A>G c.(370-372)cAc>cGc p.H124R NM_003517.2 NP_003508.1 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 124 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1) 20 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) ACCGAAAGCCACAAAGCCAAA 0.463 5 170 --- --- --- --- ROBO1 6091 broad.mit.edu 37 3 78987846 78987846 + Missense_Mutation SNP C C T TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr3:78987846C>T ENST00000436010.2 - 2 1284 c.287G>A c.(286-288)gGa>gAa p.G96E ROBO1_ENST00000467549.1_Missense_Mutation_p.G96E|ROBO1_ENST00000464233.1_Missense_Mutation_p.G135E|ROBO1_ENST00000495273.1_Missense_Mutation_p.G96E Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 135 Ig-like C2-type 1. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) ACTTTTCCGTCCATGTACTAT 0.473 19 26 --- --- --- --- LEF1 51176 broad.mit.edu 37 4 108999454 108999454 + Missense_Mutation SNP C C T TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr4:108999454C>T ENST00000379951.2 - 7 2034 c.846G>A c.(844-846)atG>atA p.M282I LEF1_ENST00000438313.2_Missense_Mutation_p.M282I|LEF1_ENST00000510624.1_Missense_Mutation_p.M214I|LEF1_ENST00000265165.1_Missense_Mutation_p.M310I|LEF1_ENST00000503879.1_5'UTR NM_001130713.2|NM_001130714.2 NP_001124185.1|NP_001124186.1 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 310 canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(123;0.000224) TCATTTCTTTCATGTATAACA 0.433 195 266 --- --- --- --- CAMK2D 817 broad.mit.edu 37 4 114469847 114469847 + Missense_Mutation SNP C C A TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr4:114469847C>A ENST00000454265.2 - 6 1238 c.380G>T c.(379-381)tGt>tTt p.C127F CAMK2D_ENST00000508738.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000394522.3_Missense_Mutation_p.C127F|CAMK2D_ENST00000394526.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000296402.5_Missense_Mutation_p.C127F|CAMK2D_ENST00000505990.1_Intron|CAMK2D_ENST00000418639.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000511664.1_Intron|CAMK2D_ENST00000342666.5_Missense_Mutation_p.C127F|CAMK2D_ENST00000514328.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000429180.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000379773.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000515496.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000394524.3_Missense_Mutation_p.C127F Q13557 KCC2D_HUMAN calcium/calmodulin-dependent protein kinase II delta 127 Protein kinase. interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 13 Ovarian(17;0.00369)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000271) ATTTAGGTGACAATGATTAAC 0.378 28 39 --- --- --- --- DAB2 1601 broad.mit.edu 37 5 39377007 39377007 + Missense_Mutation SNP G G A TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr5:39377007G>A ENST00000545653.1 - 11 2349 c.1819C>T c.(1819-1821)Cct>Tct p.P607S DAB2_ENST00000320816.6_Missense_Mutation_p.P628S|DAB2_ENST00000339788.6_Missense_Mutation_p.P410S|DAB2_ENST00000509337.1_Missense_Mutation_p.P607S NM_001244871.1 NP_001231800.1 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 628 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) TCCTTGGGAGGGCCAGCTCTG 0.522 OREG0016586 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 182 --- --- --- --- YTHDC2 64848 broad.mit.edu 37 5 112889507 112889507 + Nonsense_Mutation SNP C C T TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr5:112889507C>T ENST00000161863.4 + 15 2221 c.2008C>T c.(2008-2010)Caa>Taa p.Q670* YTHDC2_ENST00000515883.1_Nonsense_Mutation_p.Q670* NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 670 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) AACATCCGATCAAAAGAAAGT 0.303 19 26 --- --- --- --- KIF13A 63971 broad.mit.edu 37 6 17777528 17777528 + Missense_Mutation SNP T T C TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr6:17777528T>C ENST00000378814.5 - 33 4110 c.4111A>G c.(4111-4113)Agt>Ggt p.S1371G KIF13A_ENST00000378826.2_Missense_Mutation_p.S1384G|KIF13A_ENST00000378816.5_Missense_Mutation_p.S1384G|KIF13A_ENST00000259711.6_Missense_Mutation_p.S1384G|KIF13A_ENST00000378843.2_Missense_Mutation_p.S1371G NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 1384 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TTTGGTGTACTGAGGCTCCTC 0.453 9 17 --- --- --- --- DEF6 50619 broad.mit.edu 37 6 35285708 35285708 + Missense_Mutation SNP T T G TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr6:35285708T>G ENST00000316637.5 + 6 853 c.848T>G c.(847-849)gTg>gGg p.V283G DEF6_ENST00000542066.1_Missense_Mutation_p.V28G|DEF6_ENST00000468102.1_3'UTR NM_022047.3 NP_071330.3 Q9H4E7 DEFI6_HUMAN differentially expressed in FDCP 6 homolog (mouse) 283 PH. cytoplasm|nucleus|plasma membrane cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 15 ATGTTCTGTGTGAAGACAGCC 0.657 20 26 --- --- --- --- DNAH8 1769 broad.mit.edu 37 6 38906615 38906615 + Missense_Mutation SNP T T C TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr6:38906615T>C ENST00000359357.3 + 77 11461 c.11207T>C c.(11206-11208)aTt>aCt p.I3736T RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.I3700T|DNAH8_ENST00000449981.2_Missense_Mutation_p.I3953T dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ATTACAAATATTATCGAGTAC 0.328 24 33 --- --- --- --- KIAA1244 57221 broad.mit.edu 37 6 138611047 138611047 + Missense_Mutation SNP C C G TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr6:138611047C>G ENST00000251691.4 + 18 3155 c.2989C>G c.(2989-2991)Ctc>Gtc p.L997V NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 997 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) GGAGGCCATCCTCAGCGTAGG 0.602 39 59 --- --- --- --- UTRN 7402 broad.mit.edu 37 6 144837472 144837472 + Silent SNP T T C TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr6:144837472T>C ENST00000367545.3 + 37 5352 c.5352T>C c.(5350-5352)aaT>aaC p.N1784N NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1784 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) ACATAGAAAATATGTTAAAAT 0.353 45 63 --- --- --- --- RUNX1T1 862 broad.mit.edu 37 8 93004008 93004008 + Missense_Mutation SNP A A G TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr8:93004008A>G ENST00000523629.1 - 7 1304 c.850T>C c.(850-852)Tac>Cac p.Y284H RUNX1T1_ENST00000265814.3_Missense_Mutation_p.Y284H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.Y257H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.Y295H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.Y257H NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 284 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TTGGGCTGGTAGGATAAGCCG 0.532 41 82 --- --- --- --- SPATA31D5P 347127 broad.mit.edu 37 9 84533044 84533044 + RNA SNP T T C rs530720 by1000genomes TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr9:84533044T>C ENST00000527857.1 + 0 3066 NR_026851.1 TTTTCTGATATTGACCATGAC 0.458 4 50 --- --- --- --- SEPHS1 22929 broad.mit.edu 37 10 13371763 13371763 + Missense_Mutation SNP C C T TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr10:13371763C>T ENST00000327347.5 - 6 961 c.586G>A c.(586-588)Gtg>Atg p.V196M SEPHS1_ENST00000545675.1_Missense_Mutation_p.V196M|SEPHS1_ENST00000537130.1_Missense_Mutation_p.V129M|SEPHS1_ENST00000378614.4_Missense_Mutation_p.V196M NM_001195602.1|NM_012247.4 NP_001182531.1|NP_036379.2 P49903 SPS1_HUMAN selenophosphate synthetase 1 196 protein modification process ATP binding|GTP binding|selenide, water dikinase activity cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1) 16 AGCACCAGCACGTCCCCTGGC 0.517 8 15 --- --- --- --- C1S 716 broad.mit.edu 37 12 7172584 7172584 + Missense_Mutation SNP A A G TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr12:7172584A>G ENST00000406697.1 + 9 1326 c.698A>G c.(697-699)aAc>aGc p.N233S C1S_ENST00000402681.3_Missense_Mutation_p.N66S|C1S_ENST00000360817.5_Missense_Mutation_p.N233S|C1S_ENST00000328916.3_Missense_Mutation_p.N233S P09871 C1S_HUMAN complement component 1, s subcomponent 233 CUB 2. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TCAGCGGGAAACTGCCTTGAC 0.453 45 88 --- --- --- --- WSB2 55884 broad.mit.edu 37 12 118472080 118472080 + Missense_Mutation SNP C C G TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr12:118472080C>G ENST00000315436.3 - 9 1277 c.1136G>C c.(1135-1137)aGt>aCt p.S379T WSB2_ENST00000542304.1_Missense_Mutation_p.S154T|WSB2_ENST00000544233.1_Missense_Mutation_p.S169T|WSB2_ENST00000441406.2_Missense_Mutation_p.S396T|WSB2_ENST00000535496.1_Missense_Mutation_p.S381T NM_001278557.1|NM_018639.3 NP_001265486.1|NP_061109.1 Q9NYS7 WSB2_HUMAN WD repeat and SOCS box containing 2 379 SOCS box. intracellular signal transduction breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGTTAGGAAACTTCGAAGGGC 0.458 91 165 --- --- --- --- TRPC4 7223 broad.mit.edu 37 13 38237623 38237623 + Missense_Mutation SNP A A G TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr13:38237623A>G ENST00000379705.3 - 6 2475 c.1618T>C c.(1618-1620)Tat>Cat p.Y540H TRPC4_ENST00000447043.1_Missense_Mutation_p.Y540H|TRPC4_ENST00000338947.5_Missense_Mutation_p.Y367H|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000379673.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000355779.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000379679.1_Missense_Mutation_p.Y367H|TRPC4_ENST00000379681.3_Missense_Mutation_p.Y540H Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 540 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TCTTCATAATAGAAGTACAAT 0.348 3 74 --- --- --- --- NALCN 259232 broad.mit.edu 37 13 101797243 101797243 + Missense_Mutation SNP T T G TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr13:101797243T>G ENST00000251127.6 - 16 1925 c.1844A>C c.(1843-1845)aAg>aCg p.K615T NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 615 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTCACTTTGCTTTAACTAAAG 0.328 8 250 --- --- --- --- EDDM3A 10876 broad.mit.edu 37 14 21215868 21215868 + Silent SNP A A G TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr14:21215868A>G ENST00000326842.2 + 2 256 c.129A>G c.(127-129)cgA>cgG p.R43R NM_006683.4 NP_006674.2 Q14507 EP3A_HUMAN epididymal protein 3A 43 sperm displacement extracellular space breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 6 GTCCAAGTCGAGAATTCAAAG 0.378 44 87 --- --- --- --- CCPG1 9236 broad.mit.edu 37 15 55651764 55651764 + Missense_Mutation SNP T T C TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr15:55651764T>C ENST00000310958.6 - 8 2505 c.2207A>G c.(2206-2208)cAc>cGc p.H736R DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Missense_Mutation_p.H736R|CCPG1_ENST00000425574.3_Missense_Mutation_p.H353R|CCPG1_ENST00000569205.1_Missense_Mutation_p.H736R NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3 NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 736 cell cycle integral to membrane autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3) 30 all cancers(107;0.0354) GGAAAAAGTGTGACCAAAGAA 0.328 23 3 --- --- --- --- ISLR2 57611 broad.mit.edu 37 15 74425259 74425259 + Missense_Mutation SNP C C T TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr15:74425259C>T ENST00000361742.3 + 4 933 c.164C>T c.(163-165)aCg>aTg p.T55M ISLR2_ENST00000435464.1_Missense_Mutation_p.T55M|ISLR2_ENST00000565540.1_Missense_Mutation_p.T55M|ISLR2_ENST00000445793.1_Missense_Mutation_p.T55M|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.T55M|ISLR2_ENST00000453268.2_Missense_Mutation_p.T55M|ISLR2_ENST00000419208.1_Missense_Mutation_p.T55M NM_001130136.1|NM_020851.2 NP_001123608.1|NP_065902.1 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing leucine-rich repeat 2 55 positive regulation of axon extension cell surface|integral to membrane|plasma membrane p.T55M(1) breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 AACGTGACGACGCTTAGTCTG 0.637 70 80 --- --- --- --- CHRNB4 1143 broad.mit.edu 37 15 78921727 78921727 + Missense_Mutation SNP G G A TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr15:78921727G>A ENST00000261751.3 - 5 1031 c.920C>T c.(919-921)aCc>aTc p.T307I CHRNB4_ENST00000412074.2_Intron NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 307 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 GATGGAGAAGGTGACCAGCAC 0.587 37 55 --- --- --- --- CCDC135 84229 broad.mit.edu 37 16 57738847 57738847 + Silent SNP C C T TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr16:57738847C>T ENST00000360716.3 + 7 980 c.759C>T c.(757-759)gaC>gaT p.D253D CCDC135_ENST00000336825.8_Silent_p.D188D|CCDC135_ENST00000394337.4_Silent_p.D253D Q8IY82 CC135_HUMAN coiled-coil domain containing 135 253 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 CCCCCAGGGACCTGTGCAGCA 0.562 28 63 --- --- --- --- ZZEF1 23140 broad.mit.edu 37 17 3959636 3959636 + Silent SNP T T C TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr17:3959636T>C ENST00000381638.2 - 33 5293 c.5169A>G c.(5167-5169)caA>caG p.Q1723Q NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1723 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CTTCACTCCATTGGCTGAAAG 0.443 31 48 --- --- --- --- CDK12 51755 broad.mit.edu 37 17 37681027 37681027 + Missense_Mutation SNP T T C TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr17:37681027T>C ENST00000447079.4 + 12 3229 c.3196T>C c.(3196-3198)Tct>Cct p.S1066P CDK12_ENST00000430627.2_Missense_Mutation_p.S1066P NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1066 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 ATCCAAAACTTCTCGAAAAGA 0.557 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 71 135 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696643 47696643 + Missense_Mutation SNP A A C TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr17:47696643A>C ENST00000393331.3 - 6 775 c.305T>G c.(304-306)tTc>tGc p.F102C SPOP_ENST00000503676.1_Missense_Mutation_p.F102C|SPOP_ENST00000504102.1_Missense_Mutation_p.F102C|SPOP_ENST00000393328.2_Missense_Mutation_p.F102C|SPOP_ENST00000347630.2_Missense_Mutation_p.F102C NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 102 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F102C(2) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 GGAGAATTTGAATTTTGCCCG 0.408 Prostate(2;0.17) 53 58 --- --- --- --- HAUS1 115106 broad.mit.edu 37 18 43685267 43685267 + Silent SNP C C T TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr18:43685267C>T ENST00000282058.6 + 2 218 c.138C>T c.(136-138)gtC>gtT p.V46V HAUS1_ENST00000585518.1_Silent_p.V46V NM_138443.3 NP_612452.1 Q96CS2 HAUS1_HUMAN HAUS augmin-like complex, subunit 1 46 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 7 GCAACAGGGTCCGGGACAGGG 0.433 23 13 --- --- --- --- SMAD4 4089 broad.mit.edu 37 18 48591888 48591888 + Missense_Mutation SNP G G T TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr18:48591888G>T ENST00000342988.3 + 9 1589 c.1051G>T c.(1051-1053)Gat>Tat p.D351Y SMAD4_ENST00000398417.2_Missense_Mutation_p.D351Y|SMAD4_ENST00000588745.1_Missense_Mutation_p.D255Y NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 351 MH2. D -> N (in a colorectal cancer sample; somatic mutation). BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.D351H(8)|p.?(2)|p.V350_D351>DN(1)|p.D351N(1) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TGTTACTGTTGATGGATACGT 0.438 4 62 --- --- --- --- SMAD4 4089 broad.mit.edu 37 18 48591901 48591901 + Missense_Mutation SNP A A T TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr18:48591901A>T ENST00000342988.3 + 9 1602 c.1064A>T c.(1063-1065)gAc>gTc p.D355V SMAD4_ENST00000398417.2_Missense_Mutation_p.D355V|SMAD4_ENST00000588745.1_Missense_Mutation_p.D259V NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 355 MH2. BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(2)|p.D355G(2)|p.D355A(1) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) GGATACGTGGACCCTTCTGGA 0.428 37 25 --- --- --- --- CEACAM16 388551 broad.mit.edu 37 19 45207372 45207372 + Missense_Mutation SNP C C G TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr19:45207372C>G ENST00000587331.1 + 4 682 c.467C>G c.(466-468)cCc>cGc p.P156R CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Missense_Mutation_p.P156R NM_001039213.2 NP_001034302.2 A7LI12 A7LI12_HUMAN carcinoembryonic antigen-related cell adhesion molecule 16 156 endometrium(3)|large_intestine(2)|lung(3)|ovary(1) 9 Lung NSC(12;0.000698)|all_lung(12;0.002) Prostate(69;0.0376)|Ovarian(192;0.231) TGCAGCAGCCCCAGCCCCACC 0.687 7 16 --- --- --- --- OPA3 80207 broad.mit.edu 37 19 46032604 46032604 + Missense_Mutation SNP C C A TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr19:46032604C>A ENST00000323060.3 - 2 330 c.253G>T c.(253-255)Ggc>Tgc p.G85C NM_001017989.2 NP_001017989.2 Q9H6K4 OPA3_HUMAN optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 85 response to stimulus|visual perception mitochondrion cervix(1)|large_intestine(1)|lung(2) 4 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242) ATGCCCTCGCCCAGCAGCTCC 0.627 111 118 --- --- --- --- KLK3 354 broad.mit.edu 37 19 51359573 51359573 + Missense_Mutation SNP G G C TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr19:51359573G>C ENST00000360617.3 + 2 124 c.124G>C c.(124-126)Gtg>Ctg p.V42L KLK3_ENST00000597483.1_Missense_Mutation_p.V42L|KLK3_ENST00000326003.2_Missense_Mutation_p.V42L|KLK3_ENST00000593997.1_Missense_Mutation_p.V42L|KLK3_ENST00000595952.1_Missense_Mutation_p.V42L P07288 KLK3_HUMAN kallikrein-related peptidase 3 42 Peptidase S1. negative regulation of angiogenesis|proteolysis extracellular region serine-type endopeptidase activity breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144) GCAGGTGCTTGTGGCCTCTCG 0.642 7 224 --- --- --- --- SIGLEC1 6614 broad.mit.edu 37 20 3686562 3686562 + Missense_Mutation SNP C C T TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr20:3686562C>T ENST00000344754.4 - 3 534 c.535G>A c.(535-537)Gac>Aac p.D179N SIGLEC1_ENST00000202578.4_Missense_Mutation_p.D179N NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 179 Ig-like C2-type 1. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 CGAGCAGGGTCCTGGCCTTGC 0.632 77 117 --- --- --- --- MMP9 4318 broad.mit.edu 37 20 44639788 44639788 + Missense_Mutation SNP C C A TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr20:44639788C>A ENST00000372330.3 + 5 675 c.656C>A c.(655-657)cCa>cAa p.P219Q NM_004994.2 NP_004985.2 P14780 MMP9_HUMAN matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) 219 collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 46 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) GCAGTGGTTCCAACTCGGTTT 0.637 176 308 --- --- --- --- DDX17 10521 broad.mit.edu 37 22 38883946 38883946 + Missense_Mutation SNP T T C TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr22:38883946T>C ENST00000396821.3 - 12 1721 c.1622A>G c.(1621-1623)aAt>aGt p.N541S DDX17_ENST00000444597.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.N464S NM_001098504.1|NM_006386.4 NP_001091974|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 462 RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) GATAGCCTGATTGGCCTCTTC 0.547 77 103 --- --- --- --- USP24 23358 broad.mit.edu 37 1 55538531 55538532 + Frame_Shift_Del DEL AC AC - TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr1:55538531_55538532delAC ENST00000294383.6 - 65 7528_7529 c.7529_7530delGT c.(7528-7530)tgtfs p.C2510fs USP24_ENST00000484447.1_5'UTR|USP24_ENST00000407756.1_Frame_Shift_Del_p.C2350fs NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 2510 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 TAGCTGCAGGACACCTGATGAC 0.406 7 20 --- --- --- --- IL6ST 3572 broad.mit.edu 37 5 55259975 55259975 + Splice_Site DEL T T - TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr5:55259975delT ENST00000381298.2 - 6 969 c.657delA c.(655-657)aaa>aa p.K219fs IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000502326.3_Splice_Site_p.K219fs|IL6ST_ENST00000381294.3_Splice_Site_p.K219fs|IL6ST_ENST00000522633.2_Splice_Site_p.K219fs|IL6ST_ENST00000336909.5_Splice_Site_p.K219fs|IL6ST_ENST00000381287.4_Splice_Site_p.K219fs|IL6ST_ENST00000536319.1_Splice_Site_p.K219fs|IL6ST_ENST00000381286.3_Intron NM_001190981.1|NM_002184.3|NM_175767.2 NP_001177910.1|NP_002175.2|NP_786943.1 P40189 IL6RB_HUMAN interleukin 6 signal transducer (gp130, oncostatin M receptor) 219 interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) TATAACTACCTTTATATACAG 0.294 O hepatocellular ca 9 23 --- --- --- --- IRF4 3662 broad.mit.edu 37 6 397192 397193 + Frame_Shift_Ins INS - - AA TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr6:397192_397193insAA ENST00000380956.4 + 5 703_704 c.577_578insAA c.(577-579)caafs p.Q193fs IRF4_ENST00000495137.1_3'UTR NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 193 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) AATCCCGTACCAATGTCCCATG 0.554 T IGH@ MM 119 161 --- --- --- --- VLDLR 7436 broad.mit.edu 37 9 2643660 2643661 + Frame_Shift_Del DEL TG TG - TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f555699-002c-43d7-b5ef-22deebbae2a5 2e17d22b-df41-4ea2-afd3-edce529c9a20 g.chr9:2643660_2643661delTG ENST00000382100.3 + 6 1209_1210 c.853_854delTG c.(853-855)tgtfs p.C285fs VLDLR_ENST00000382099.2_Frame_Shift_Del_p.C285fs NM_003383.3 NP_003374.3 P98155 VLDLR_HUMAN very low density lipoprotein receptor LDL-receptor class A 7. cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123) CCAATTTGAATGTGAGGATGGC 0.485 40 43 --- --- --- ---