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 SLC38A3 10991 broad.mit.edu 37 3 50256083 50256083 + RNA SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:50256083G>T ENST00000420502.1 + 0 1248 Q99624 S38A3_HUMAN solute carrier family 38, member 3 cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity p.L365L(1) breast(1)|cervix(1)|endometrium(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) TTGACGTCCTGATCCTGTGTG 0.637000 10 50 1.76689e-08 2.09889e-08 0.058154 1 0 AUH 549 broad.mit.edu 37 9 94060310 94060310 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr9:94060310C>A ENST00000375731.4 - 5 577 c.554G>T c.(553-555)gGt>gTt p.G185V AUH_ENST00000478465.1_5'UTR|AUH_ENST00000303617.5_Missense_Mutation_p.G156V|AUH_ENST00000422391.2_Missense_Mutation_p.G185V NM_001698.2 NP_001689.1 Q13825 AUHM_HUMAN AU RNA binding protein/enoyl-CoA hydratase 185 branched chain family amino acid catabolic process|mRNA catabolic process mitochondrial matrix enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding p.G185V(1) endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 11 AAGACCACCACCTAAAGCGAG 0.348000 26 54 4.74835e-14 6.34816e-14 0.045705 1 0 PRG4 10216 broad.mit.edu 37 1 186278009 186278009 + Missense_Mutation SNP G G T rs149799261 by1000genomes TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:186278009G>T ENST00000445192.2 + 7 3203 c.3158G>T c.(3157-3159)cGc>cTc p.R1053L PRG4_ENST00000367484.3_Missense_Mutation_p.R582L|PRG4_ENST00000367485.4_Missense_Mutation_p.R960L|PRG4_ENST00000367486.3_Missense_Mutation_p.R1010L|PRG4_ENST00000367483.4_Missense_Mutation_p.R1012L NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 1053 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.R1053L(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CCAACTCCCCGCAAGATGACA 0.448000 30 120 3.80469e-20 5.6994e-20 0.041601 1 0 PDIA4 9601 broad.mit.edu 37 7 148709033 148709033 + Missense_Mutation SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:148709033T>A ENST00000286091.4 - 6 1116 c.884A>T c.(883-885)cAg>cTg p.Q295L NM_004911.4 NP_004902.1 P13667 PDIA4_HUMAN protein disulfide isomerase family A, member 4 295 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity p.Q295L(1) large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) CTCCTGGACCTGCTTCAGGGT 0.572000 25 88 0 0 0.030593 0 0 SLC29A4 222962 broad.mit.edu 37 7 5327485 5327485 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:5327485G>T ENST00000396872.2 + 2 199 c.38G>T c.(37-39)aGc>aTc p.S13I SLC29A4_ENST00000406453.3_Missense_Mutation_p.S13I|SLC29A4_ENST00000297195.4_Missense_Mutation_p.S13I NM_001040661.1|NM_153247.2 NP_001035751.1|NP_694979.2 Q7RTT9 S29A4_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 4 13 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity p.S13I(1) breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1) 20 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) GAGGAGCCCAGCGTGGCAGGC 0.652000 14 37 4.7546e-09 5.77677e-09 0.028581 1 0 SLC18A3 6572 broad.mit.edu 37 10 50818982 50818982 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:50818982G>T ENST00000374115.3 + 1 636 c.196G>T c.(196-198)Ggg>Tgg p.G66W CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 66 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity p.G66L(1) endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 CCACATGCGCGGGGGCGGCGA 0.672000 5 18 1.06961e-07 1.23519e-07 0.038147 1 0 ZNF536 9745 broad.mit.edu 37 19 30934586 30934586 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:30934586C>A ENST00000355537.3 + 2 264 c.117C>A c.(115-117)atC>atA p.I39I NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 39 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.I39I(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TGCACCAGATCACCTCCCAGC 0.657000 36 124 1.57019e-19 2.30584e-19 0.030466 1 0 GPR133 283383 broad.mit.edu 37 12 131590398 131590398 + Silent SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:131590398C>G ENST00000261654.5 + 17 2434 c.1875C>G c.(1873-1875)ctC>ctG p.L625L GPR133_ENST00000535015.1_Silent_p.L657L|GPR133_ENST00000543617.1_Silent_p.L144L|GPR133_ENST00000376682.4_Silent_p.L311L NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 625 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.L625L(1) NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GTTTCCGCCTCGAGCCGGGCA 0.632000 8 16 0 0 0.008291 0 0 OLFML2B 25903 broad.mit.edu 37 1 161970075 161970075 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:161970075G>T ENST00000294794.3 - 5 1200 c.777C>A c.(775-777)atC>atA p.I259I OLFML2B_ENST00000367940.2_Silent_p.I260I NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 259 p.I259I(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GCAGAAGTTCGATGGAGTTGA 0.617000 24 55 4.72057e-08 5.50242e-08 0.021523 1 0 NAP1L2 4674 broad.mit.edu 37 X 72434120 72434120 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chrX:72434120C>A ENST00000373517.3 - 1 564 c.209G>T c.(208-210)gGg>gTg p.G70V NAP1L2_ENST00000536638.1_Intron NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 70 nucleosome assembly chromatin assembly complex p.G70V(1) NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) CCCATCTTCCCCGGACCCAGC 0.527000 49 32 6.31075e-24 9.76726e-24 0.048971 1 0 PCDHB7 56129 broad.mit.edu 37 5 140553013 140553013 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:140553013G>T ENST00000231137.3 + 1 771 c.597G>T c.(595-597)gtG>gtT p.V199V NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 199 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.V199V(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGAATCAAGTGCTGGATCGGG 0.517000 19 70 8.10497e-08 9.41793e-08 0.055883 1 0 FOXO3 2309 broad.mit.edu 37 6 108985039 108985039 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr6:108985039G>A ENST00000406360.1 + 2 1346 c.1003G>A c.(1003-1005)Gaa>Aaa p.E335K FOXO3_ENST00000540898.1_Missense_Mutation_p.E115K|FOXO3_ENST00000343882.6_Missense_Mutation_p.E335K NM_001455.3 NP_001446.1 O43524 FOXO3_HUMAN forkhead box O3 335 antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding p.E335K(1) central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) AGAGTTGGATGAAGTCCAGGA 0.592000 29 42 0 0 0.059317 0 0 APOB 338 broad.mit.edu 37 2 21230206 21230206 + Missense_Mutation SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:21230206C>G ENST00000233242.1 - 26 9661 c.9534G>C c.(9532-9534)aaG>aaC p.K3178N NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3178 Basic (possible receptor binding region).|Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.K3178N(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTTTGTTTTTCTTATACTGAG 0.358000 26 71 0 0 0.037714 0 0 MAN2C1 4123 broad.mit.edu 37 15 75652055 75652055 + Silent SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr15:75652055C>T ENST00000565683.1 - 16 1865 c.1854G>A c.(1852-1854)gaG>gaA p.E618E MAN2C1_ENST00000569482.1_Silent_p.E618E|MAN2C1_ENST00000563622.1_Silent_p.E519E|MAN2C1_ENST00000267978.5_Silent_p.E618E NM_001256494.1 NP_001243423.1 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 618 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding p.E618E(1) central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 44 CAGGACCTGGCTCCCCAGCAC 0.627000 15 49 0 0 0.033300 0 0 KCNIP2 30819 broad.mit.edu 37 10 103587134 103587134 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:103587134C>A ENST00000358038.3 - 9 1086 c.735G>T c.(733-735)atG>atT p.M245I KCNIP2_ENST00000461105.1_Missense_Mutation_p.M278I|KCNIP2_ENST00000348850.5_Missense_Mutation_p.M218I|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000356640.2_Missense_Mutation_p.M263I|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000343195.4_Missense_Mutation_p.M213I|KCNIP2_ENST00000370046.1_Missense_Mutation_p.M177I|KCNIP2_ENST00000353068.3_Missense_Mutation_p.M220I NM_173192.2|NM_173193.2|NM_173195.2 NP_775284.1|NP_775285.1|NP_775287.1 Q9NS61 KCIP2_HUMAN Kv channel interacting protein 2 263 EF-hand 4. clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission cytoplasm|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 Colorectal(252;0.122) Epithelial(162;4.93e-09)|all cancers(201;2.63e-07) CAAAGAGCTGCATGGACCTCA 0.537000 5 415 0.00116845 0.00123815 0.021553 1 0 GK2 2712 broad.mit.edu 37 4 80328679 80328679 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:80328679G>A ENST00000358842.3 - 1 693 c.676C>T c.(676-678)Cca>Tca p.P226S NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 226 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity p.P226S(1) autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 AGGTCCATTGGAATTTCAAAA 0.408000 5 133 0 0 0.021553 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 4 8 0.00307968 0.00324497 0.038147 1 0 SHROOM2 357 broad.mit.edu 37 X 9862711 9862711 + Missense_Mutation SNP G G T rs111899727 byFrequency TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chrX:9862711G>T ENST00000380913.3 + 4 853 c.763G>T c.(763-765)Gca>Tca p.A255S NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 255 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity p.A255S(1) breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) GGCCCAGGCCGCAGGCGACCC 0.672000 20 10 5.26018e-13 6.8603e-13 0.062417 1 0 RP11-478B9.1 0 broad.mit.edu 37 12 45458055 45458055 + RNA SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:45458055G>T ENST00000548424.1 + 0 448 AACAATGCGGGGGATCATTGG 0.493000 25 34 9.86323e-18 1.39885e-17 0.021523 1 0 HECTD4 283450 broad.mit.edu 37 12 112654685 112654685 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:112654685C>A ENST00000550722.1 - 47 7234 c.6839G>T c.(6838-6840)gGa>gTa p.G2280V HECTD4_ENST00000430131.2_Missense_Mutation_p.G2004V|HECTD4_ENST00000377560.5_Missense_Mutation_p.G2254V NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 p.G2254V(1)|p.G2004V(1) ATCGGTGTCTCCATAGGAAAC 0.507000 28 121 8.58068e-18 1.2216e-17 0.034045 1 0 LMBR1 64327 broad.mit.edu 37 7 156518480 156518480 + Missense_Mutation SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:156518480C>G ENST00000353442.4 - 13 1281 c.1045G>C c.(1045-1047)Gcg>Ccg p.A349P LMBR1_ENST00000540390.1_Missense_Mutation_p.A328P|LMBR1_ENST00000461603.1_5'UTR|LMBR1_ENST00000354505.4_Missense_Mutation_p.A390P|LMBR1_ENST00000359422.4_Missense_Mutation_p.A197P NM_022458.3 NP_071903.2 Q8WVP7 LMBR1_HUMAN limb development membrane protein 1 349 A -> V (in Ref. 1; AAK94061). integral to membrane receptor activity p.A349P(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 18 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.208) ATTTCAAGCGCAGCTCCCACA 0.388000 10 44 0 0 0.008291 0 0 SV2C 22987 broad.mit.edu 37 5 75505590 75505590 + Nonsense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:75505590C>A ENST00000502798.2 + 4 1233 c.791C>A c.(790-792)tCg>tAg p.S264* SV2C_ENST00000322285.7_Nonsense_Mutation_p.S264* NM_014979.1 NP_055794.1 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 264 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.S264*(1) NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) ACTGTGTTCTCGTACTTTGCT 0.557000 22 62 1.36615e-20 2.05473e-20 0.054565 1 0 CRHR1 1394 broad.mit.edu 37 17 43907550 43907550 + Translation_Start_Site SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:43907550C>A ENST00000293493.7 + 0 888 CRHR1_ENST00000339069.5_Silent_p.T74T|CRHR1_ENST00000577353.1_Silent_p.T175T|CRHR1_ENST00000352855.5_Silent_p.T135T|CRHR1_ENST00000398285.3_Silent_p.T204T|CRHR1_ENST00000314537.5_Silent_p.T175T NM_001256299.1 NP_001243228.1 P34998 CRFR1_HUMAN corticotropin releasing hormone receptor 1 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding p.T175T(1) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) TCCAGCTAACCATGAGCCCCG 0.647000 35 72 1.99505e-19 2.91825e-19 0.050027 1 0 SH3KBP1 30011 broad.mit.edu 37 X 19650023 19650023 + Silent SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chrX:19650023A>G ENST00000397821.3 - 8 1146 c.856T>C c.(856-858)Ttg>Ctg p.L286L SH3KBP1_ENST00000379698.4_Silent_p.L249L|SH3KBP1_ENST00000379716.1_Silent_p.L48L|SH3KBP1_ENST00000379697.3_Silent_p.L330L|SH3KBP1_ENST00000477102.1_5'UTR|SH3KBP1_ENST00000541422.1_Silent_p.L25L NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 286 SH3 3. apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding p.L286L(1) breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 TTGATTGTCAATTCATCATCA 0.353000 40 29 0 0 0.042209 0 0 ARHGAP6 395 broad.mit.edu 37 X 11162223 11162223 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chrX:11162223G>T ENST00000337414.4 - 11 2925 c.2053C>A c.(2053-2055)Caa>Aaa p.Q685K ARHGAP6_ENST00000380736.1_Missense_Mutation_p.Q482K|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.Q482K|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.Q685K|ARHGAP6_ENST00000413512.3_3'UTR|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.Q510K NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 685 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity p.Q685K(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 GCGTCCTCTTGCATAGCCAGC 0.577000 OREG0019666 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 48 58 1.81118e-26 2.87477e-26 0.048971 1 0 FASTKD2 22868 broad.mit.edu 37 2 207631989 207631989 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:207631989T>C ENST00000236980.6 + 2 920 c.572T>C c.(571-573)aTt>aCt p.I191T FASTKD2_ENST00000403094.3_Missense_Mutation_p.I191T|FASTKD2_ENST00000402774.3_Missense_Mutation_p.I191T NM_014929.3 NP_055744.2 Q9NYY8 FAKD2_HUMAN FAST kinase domains 2 191 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity p.I191T(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2) 21 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) ATGTGGACAATTGCCAAAAGA 0.418000 63 152 0 0 0.048971 0 0 KCNK10 54207 broad.mit.edu 37 14 88729728 88729728 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:88729728A>G ENST00000340700.5 - 2 656 c.205T>C c.(205-207)Tgg>Cgg p.W69R KCNK10_ENST00000319231.5_Missense_Mutation_p.W74R|KCNK10_ENST00000312350.5_Missense_Mutation_p.W74R NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 69 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity p.W74R(2)|p.W69R(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 ACCGTCTTCCACTTCATGACG 0.592000 20 88 0 0 0.014323 0 0 GPBP1 65056 broad.mit.edu 37 5 56527069 56527069 + Translation_Start_Site SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:56527069A>T ENST00000514387.2 + 0 1385 GPBP1_ENST00000424459.3_Missense_Mutation_p.H111L|GPBP1_ENST00000506184.2_Missense_Mutation_p.H111L|GPBP1_ENST00000264779.6_Missense_Mutation_p.H118L|GPBP1_ENST00000538707.1_Missense_Mutation_p.H118L|GPBP1_ENST00000511209.1_Missense_Mutation_p.H118L|GPBP1_ENST00000454432.2_Missense_Mutation_p.H111L NM_001203246.1 NP_001190175.1 Q86WP2 GPBP1_HUMAN GC-rich promoter binding protein 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding p.H111L(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 19 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222) OV - Ovarian serous cystadenocarcinoma(10;7.64e-39) CAAGGACTACATGAAAACAAC 0.393000 22 64 0 0 0.030593 0 0 PRDM14 63978 broad.mit.edu 37 8 70982089 70982089 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr8:70982089G>T ENST00000276594.2 - 2 208 c.7C>A c.(7-9)Cta>Ata p.L3I NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L3I(1) NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) GGCCGGGGTAGAGCCATCCCG 0.711000 6 10 0.00198382 0.00209622 0.029380 1 0 COL5A1 1289 broad.mit.edu 37 9 137704349 137704349 + Splice_Site SNP G G C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr9:137704349G>C ENST00000371817.3 + 47 4158 c.e47+1 NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding p.?(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGGCCAGATGGTAAGTGTGCC 0.537000 26 37 0 0 0.045705 0 0 PTPDC1 138639 broad.mit.edu 37 9 96860223 96860223 + Silent SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr9:96860223C>T ENST00000375360.3 + 7 1553 c.1213C>T c.(1213-1215)Ctg>Ttg p.L405L PTPDC1_ENST00000288976.3_Silent_p.L457L NM_001253830.1|NM_177995.2 NP_001240759.1|NP_818931.1 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 405 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.L405L(1)|p.L457L(1) endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 CGAGAACCTCCTGGAGCAAGG 0.532000 20 40 0 0 0.016522 0 0 COL22A1 169044 broad.mit.edu 37 8 139890410 139890410 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr8:139890410G>A ENST00000303045.6 - 3 687 c.241C>T c.(241-243)Cgc>Tgc p.R81C COL22A1_ENST00000435777.1_Missense_Mutation_p.R81C NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 81 VWFA. cell adhesion collagen|cytoplasm structural molecule activity p.R81C(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TCGCTGTAGCGCACGACCCCC 0.687000 HNSCC(7;0.00092) 6 12 0 0 0.029380 0 0 ZP4 57829 broad.mit.edu 37 1 238048738 238048738 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:238048738G>T ENST00000366570.4 - 8 1271 c.1113C>A c.(1111-1113)ccC>ccA p.P371P RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 371 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity p.P371P(1) breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GGTCAGTGCTGGGTGTTGCCC 0.537000 20 88 4.26978e-12 5.47294e-12 0.018920 1 0 VIL1 7429 broad.mit.edu 37 2 219295487 219295487 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:219295487G>T ENST00000248444.5 + 10 1076 c.988G>T c.(988-990)Gtg>Ttg p.V330L VIL1_ENST00000392114.2_Missense_Mutation_p.V19L|VIL1_ENST00000440053.1_Missense_Mutation_p.V330L NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 330 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity p.V330L(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAGCACACAGGTGGAGGTGCA 0.567000 27 109 4.74835e-14 6.34816e-14 0.045705 1 0 ITGAX 3687 broad.mit.edu 37 16 31374568 31374568 + Missense_Mutation SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr16:31374568T>A ENST00000268296.4 + 14 1704 c.1583T>A c.(1582-1584)cTg>cAg p.L528Q ITGAX_ENST00000562522.1_Missense_Mutation_p.L528Q NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 528 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity p.L528Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CTGACAGTGCTGGGGGATGTG 0.602000 62 203 0 0 0.048971 0 0 RIPK4 54101 broad.mit.edu 37 21 43161537 43161537 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr21:43161537T>C ENST00000352483.2 - 9 2024 c.1960A>G c.(1960-1962)Acg>Gcg p.T654A RIPK4_ENST00000332512.3_Missense_Mutation_p.T606A|RIPK4_ENST00000544709.1_Missense_Mutation_p.T543A|RIPK4_ENST00000542057.1_Missense_Mutation_p.T543A Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 606 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.T606A(1)|p.T654A(1) NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TGCAATGGCGTCCTCCCATCC 0.677000 41 125 0 0 0.042209 0 0 OTOF 9381 broad.mit.edu 37 2 26691312 26691312 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:26691312C>A ENST00000272371.2 - 33 4180 c.4054G>T c.(4054-4056)Gac>Tac p.D1352Y OTOF_ENST00000402415.3_Missense_Mutation_p.D662Y|OTOF_ENST00000339598.3_Missense_Mutation_p.D585Y|OTOF_ENST00000338581.6_Missense_Mutation_p.D585Y|OTOF_ENST00000403946.3_Missense_Mutation_p.D1352Y NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1352 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding p.D1352Y(1)|p.D585Y(1)|p.D662Y(1) NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCTCCAAGTCAATTCCAGAG 0.557000 40 110 3.77016e-25 5.90869e-25 0.045515 1 0 OR11H12 440153 broad.mit.edu 37 14 19378076 19378076 + Silent SNP A A C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:19378076A>C ENST00000550708.1 + 1 555 c.483A>C c.(481-483)atA>atC p.I161I NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I161I(1) NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AACTGGTCATACTGTGCTGGG 0.473000 6 336 0 0 0.020292 0 0 ARHGAP6 395 broad.mit.edu 37 X 11308583 11308583 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chrX:11308583G>A ENST00000380732.3 - 2 603 c.604C>T c.(604-606)Ctt>Ttt p.L202F ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000413512.3_Intron O43182 RHG06_HUMAN Rho GTPase activating protein 6 196 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 AAGATCTGAAGATCATACAAC 0.358000 20 20 0 0 0.062417 0 0 MUC16 94025 broad.mit.edu 37 19 9077163 9077163 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:9077163G>T ENST00000397910.4 - 3 10486 c.10283C>A c.(10282-10284)tCt>tAt p.S3428Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3429 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S3428Y(2) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATCTGACCAAGAACTAGTTGA 0.458000 79 122 3.71121e-27 5.94112e-27 0.048971 1 0 GCKR 2646 broad.mit.edu 37 2 27731039 27731039 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:27731039C>A ENST00000264717.2 + 16 1406 c.1343C>A c.(1342-1344)cCt>cAt p.P448H GCKR_ENST00000424318.2_Missense_Mutation_p.P258H NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 448 SIS 2. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding p.P448N(1) breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) CTCCAGATCCCTCTGAAGAAG 0.532000 20 81 2.94398e-08 3.44234e-08 0.043863 1 0 MSLNL 401827 broad.mit.edu 37 16 823017 823017 + Missense_Mutation SNP T T G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr16:823017T>G ENST00000293892.3 - 11 2167 c.2168A>C c.(2167-2169)cAg>cCg p.Q723P MSLNL_ENST00000442466.1_Missense_Mutation_p.Q372P Q96KJ4 MSLNL_HUMAN mesothelin-like 372 cell adhesion integral to membrane p.Q723P(1) breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 GAGCCGCAGCTGATCCTCCGG 0.672000 14 149 0 0 0.055883 0 0 GPT2 84706 broad.mit.edu 37 16 46962902 46962902 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr16:46962902A>G ENST00000440783.2 + 12 1930 c.1265A>G c.(1264-1266)tAc>tGc p.Y422C GPT2_ENST00000340124.4_Missense_Mutation_p.Y522C NM_001142466.1 NP_001135938.1 Q8TD30 ALAT2_HUMAN glutamic pyruvate transaminase (alanine aminotransferase) 2 522 2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process mitochondrial matrix L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding p.Y522C(1) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CTGGAGAAGTACGCGTGAGGA 0.597000 15 43 0 0 0.028581 0 0 GABRA1 2554 broad.mit.edu 37 5 161324188 161324188 + Silent SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:161324188T>C ENST00000428797.2 + 11 1486 c.1131T>C c.(1129-1131)ccT>ccC p.P377P GABRA1_ENST00000023897.6_Silent_p.P377P|GABRA1_ENST00000437025.2_Silent_p.P377P|GABRA1_ENST00000393943.4_Silent_p.P377P|GABRA1_ENST00000444819.1_Silent_p.P377P|GABRA1_ENST00000420560.1_Silent_p.P377P NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 377 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.P377P(1) NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) GCTACACCCCTAATTTGGCCA 0.453000 34 108 0 0 0.050027 0 0 SPEF2 79925 broad.mit.edu 37 5 35700681 35700681 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:35700681C>T ENST00000440995.2 + 16 2210 c.2210C>T c.(2209-2211)aCa>aTa p.T737I SPEF2_ENST00000356031.3_Missense_Mutation_p.T742I|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.T737I Q9C093 SPEF2_HUMAN sperm flagellar 2 742 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity p.T742I(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GAAGCTCTTACAGGCTGCAAT 0.403000 25 72 0 0 0.027356 0 0 KIF1B 23095 broad.mit.edu 37 1 10407885 10407885 + Splice_Site SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:10407885G>A ENST00000377086.1 + 36 4066 c.3864_splice c.e36+1 p.Q1288_splice KIF1B_ENST00000377081.1_Splice_Site_p.Q1288_splice|KIF1B_ENST00000465635.1_3'UTR|KIF1B_ENST00000263934.6_Splice_Site_p.Q1242_splice O60333 KIF1B_HUMAN kinesin family member 1B 1288 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding p.?(1) breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) TGCTTCATCAGGTACTAATGA 0.398000 20 62 0 0 0.055883 0 0 ZNF479 90827 broad.mit.edu 37 7 57188666 57188666 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:57188666G>T ENST00000331162.4 - 5 726 c.456C>A c.(454-456)acC>acA p.T152T NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 152 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T152T(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) TTTTGTTTTGGGTAGTTGACA 0.299000 11 55 0.0242445 0.02519 0.024245 1 0 MYO9A 4649 broad.mit.edu 37 15 72146723 72146723 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr15:72146723T>C ENST00000356056.5 - 35 6813 c.6341A>G c.(6340-6342)gAt>gGt p.D2114G MYO9A_ENST00000424560.1_Missense_Mutation_p.D2185G|MYO9A_ENST00000444904.1_Missense_Mutation_p.D2095G|MYO9A_ENST00000564571.1_Missense_Mutation_p.D2114G NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 2114 Rho-GAP.|Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity p.D2114G(1) NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CTTACCTGTATCTAGACCCTG 0.333000 55 152 0 0 0.048971 0 0 KANK4 163782 broad.mit.edu 37 1 62740193 62740193 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:62740193C>A ENST00000371153.4 - 3 961 c.583G>T c.(583-585)Ggt>Tgt p.G195C KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 195 Pro-rich. p.G195C(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 CTGCCTTCACCCTGAAGGGGA 0.627000 15 49 5.3912e-06 5.96712e-06 0.038395 1 0 MAP3K12 7786 broad.mit.edu 37 12 53875772 53875772 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:53875772C>T ENST00000267079.2 - 14 2659 c.2434G>A c.(2434-2436)Gaa>Aaa p.E812K MAP3K12_ENST00000547488.1_Missense_Mutation_p.E845K|MAP3K12_ENST00000547035.1_Missense_Mutation_p.E845K NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 812 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding p.E845K(1)|p.E812K(1) NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 GAGCTGGGTTCAGGGCCAGGG 0.562000 OREG0021873 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 71 114 0 0 0.048971 0 0 MYO15A 51168 broad.mit.edu 37 17 18058480 18058480 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:18058480G>A ENST00000205890.5 + 46 8619 c.8281G>A c.(8281-8283)Gtg>Atg p.V2761M MYO15A_ENST00000585180.1_Missense_Mutation_p.V25M|MYO15A_ENST00000418233.3_Missense_Mutation_p.V25M NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 2761 Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity p.V2761M(1) breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GAAGCGGGCCGTGGTCAGCAC 0.632000 17 36 0 0 0.016522 0 0 CBX3 11335 broad.mit.edu 37 7 26248069 26248069 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:26248069C>T ENST00000337620.4 + 4 652 c.224C>T c.(223-225)gCg>gTg p.A75V CBX3_ENST00000409747.1_Intron|CBX3_ENST00000396386.2_Missense_Mutation_p.A75V|CBX3_ENST00000497498.1_3'UTR NM_007276.4 NP_009207.2 Q13185 CBX3_HUMAN chromobox homolog 3 75 Chromo 1. chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle enzyme binding|protein domain specific binding p.A75V(1) endometrium(4)|large_intestine(2)|lung(2)|ovary(1) 9 TTGATTGAAGCGTTTCTTAAC 0.308000 19 77 0 0 0.038395 0 0 PGAP2 27315 broad.mit.edu 37 11 3845193 3845193 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:3845193C>T ENST00000396993.4 + 3 184 c.106C>T c.(106-108)Cct>Tct p.P36S PGAP2_ENST00000300730.6_Silent_p.G139G|PGAP2_ENST00000496834.2_5'UTR|PGAP2_ENST00000493547.2_Silent_p.G82G|PGAP2_ENST00000278243.4_Silent_p.G143G|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000479072.1_5'UTR|PGAP2_ENST00000396986.2_Silent_p.G139G|PGAP2_ENST00000396991.2_Silent_p.G143G|PGAP2_ENST00000465307.2_Missense_Mutation_p.P86S|PGAP2_ENST00000463452.2_Silent_p.G82G Q9UHJ9 PGAP2_HUMAN post-GPI attachment to proteins 2 267 GPI anchor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein transporter activity p.G143G(1)|p.G139G(1) NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1) 11 TCTGCATCGGCCTGCACTCGG 0.642000 17 129 0 0 0.038395 0 0 MS4A2 2206 broad.mit.edu 37 11 59857910 59857910 + Missense_Mutation SNP T T G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:59857910T>G ENST00000278888.3 + 3 390 c.288T>G c.(286-288)ttT>ttG p.F96L NM_000139.4 NP_000130.1 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 2 96 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity p.F96L(1) endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) TTTCATCATTTAAAGCAGGTT 0.338000 27 74 0 0 0.034045 0 0 SVOP 55530 broad.mit.edu 37 12 109332689 109332689 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:109332689G>T ENST00000299134.5 - 7 614 c.615C>A c.(613-615)acC>acA p.T205T NM_018711.2 NP_061181.1 Q8N4V2 SVOP_HUMAN SV2 related protein homolog (rat) 0 cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity p.N205K(2) breast(2)|lung(4) 6 GCCTTTTCCTGGTTCCCTGAC 0.557000 128 139 4.09656e-53 7.00926e-53 0.048971 1 0 SSUH2 51066 broad.mit.edu 37 3 8667996 8667996 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:8667996C>A ENST00000317371.4 - 16 1845 c.620G>T c.(619-621)tGc>tTc p.C207F SSUH2_ENST00000544814.1_Missense_Mutation_p.C229F|SSUH2_ENST00000415132.1_Missense_Mutation_p.C207F|SSUH2_ENST00000341795.3_Missense_Mutation_p.C207F ssu-2 homolog (C. elegans) p.C207F(1) TCTCCCTGAGCAAGTGCTGCA 0.572000 54 131 6.81593e-30 1.11019e-29 0.048971 1 0 PCDHGA4 56111 broad.mit.edu 37 5 140736243 140736243 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:140736243C>A ENST00000571252.1 + 1 1476 c.1476C>A c.(1474-1476)gcC>gcA p.A492A PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTCCCTGGCCGAAGACACCT 0.493000 54 185 3.07002e-29 4.95721e-29 0.048971 1 0 HTATSF1 27336 broad.mit.edu 37 X 135592243 135592243 + Silent SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chrX:135592243G>A ENST00000535601.1 + 9 1349 c.927G>A c.(925-927)agG>agA p.R309R HTATSF1_ENST00000218364.4_Silent_p.R309R NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 309 RRM 2. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding p.R309R(1) NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) CTTTCTAGAGGCACCCAGATG 0.388000 15 91 0 0 0.043863 0 0 SPTBN4 57731 broad.mit.edu 37 19 41081361 41081361 + Silent SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:41081361G>A ENST00000352632.3 + 36 7667 c.7581G>A c.(7579-7581)gcG>gcA p.A2527A SPTBN4_ENST00000593816.1_3'UTR|SPTBN4_ENST00000392025.1_Silent_p.A1270A|SPTBN4_ENST00000598249.1_Silent_p.A2527A Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 2527 PH. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton p.A2527A(1) breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCTCGGTGGCGGAACACGCAG 0.592000 8 14 0 0 0.008291 0 0 SLC6A9 6536 broad.mit.edu 37 1 44474186 44474186 + Silent SNP G G C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:44474186G>C ENST00000372310.3 - 5 594 c.429C>G c.(427-429)ccC>ccG p.P143P SLC6A9_ENST00000372306.3_Silent_p.P143P|SLC6A9_ENST00000372307.3_Silent_p.P78P|SLC6A9_ENST00000492434.2_Intron|SLC6A9_ENST00000357730.2_Silent_p.P162P|SLC6A9_ENST00000537678.1_Silent_p.P78P|SLC6A9_ENST00000475075.2_Silent_p.P32P|SLC6A9_ENST00000360584.2_Silent_p.P216P NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 216 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity p.P216P(1)|p.P143P(1) endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) AGTAGGCCCAGGGCAGCACGT 0.572000 31 110 0 0 0.054565 0 0 SLC6A1 6529 broad.mit.edu 37 3 11060301 11060301 + Missense_Mutation SNP G G C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:11060301G>C ENST00000287766.4 + 5 809 c.388G>C c.(388-390)Gct>Cct p.A130P SLC6A1_ENST00000536032.1_5'UTR|SLC6A1-AS1_ENST00000414969.2_RNA NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 130 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity p.A130P(1) breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) CCTTGCGGCTGCTGTGCTATC 0.502000 13 28 0 0 0.021523 0 0 TTN 7273 broad.mit.edu 37 2 179421984 179421984 + Silent SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:179421984A>T ENST00000589042.1 - 329 88229 c.88005T>A c.(88003-88005)gcT>gcA p.A29335A TTN_ENST00000342175.6_Silent_p.A20462A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.A27694A|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.A20270A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.A20395A|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.A26767A NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27694 Ig-like 134. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.A20462A(1)|p.A20395A(1)|p.A20270A(1)|p.A26767A(1)|p.A26765A(1) 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) ACGTACCACAAGCATCAATTG 0.413000 15 35 0 0 0.028581 0 0 MYL10 93408 broad.mit.edu 37 7 101267507 101267507 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:101267507G>T ENST00000223167.4 - 2 293 c.116C>A c.(115-117)gCc>gAc p.A39D NM_138403.4 NP_612412.2 Q9BUA6 MYL10_HUMAN myosin, light chain 10, regulatory 39 mitochondrion calcium ion binding p.A39D(1) breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 12 GTTGGAGCTGGCGGTGCCTTC 0.587000 35 82 1.32136e-16 1.84594e-16 0.033182 1 0 RNF216 54476 broad.mit.edu 37 7 5800722 5800722 + Translation_Start_Site SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:5800722T>C ENST00000425013.2 - 0 203 RNF216_ENST00000389902.3_De_novo_Start_InFrame NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) GACATGCATATATGGGACTGC 0.383000 21 61 0 0 0.014323 0 0 ANK1 286 broad.mit.edu 37 8 41554022 41554022 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr8:41554022G>T ENST00000396942.1 - 26 2902 c.2819C>A c.(2818-2820)cCa>cAa p.P940Q ANK1_ENST00000347528.4_Missense_Mutation_p.P940Q|ANK1_ENST00000379758.2_Missense_Mutation_p.P940Q|ANK1_ENST00000396945.1_Missense_Mutation_p.P940Q|ANK1_ENST00000289734.7_Missense_Mutation_p.P940Q|ANK1_ENST00000352337.4_Missense_Mutation_p.P940Q|ANK1_ENST00000265709.8_Missense_Mutation_p.P981Q P16157 ANK1_HUMAN ankyrin 1, erythrocytic 940 ZU5. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton p.P981Q(1)|p.P940Q(1) breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GCACGTCCGTGGCGGGATCAC 0.677000 25 50 8.58068e-18 1.2216e-17 0.034045 1 0 PNLIPRP1 5407 broad.mit.edu 37 10 118355764 118355764 + Silent SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:118355764T>A ENST00000528052.1 + 6 575 c.504T>A c.(502-504)atT>atA p.I168I PNLIPRP1_ENST00000358834.4_Silent_p.I168I|PNLIPRP1_ENST00000534537.1_Silent_p.I168I P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 168 lipid metabolic process calcium ion binding|triglyceride lipase activity p.I168I(1) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) TTCACCTCATTGGCCACAGCC 0.532000 219 280 0 0 0.048971 0 0 TMEM132D 121256 broad.mit.edu 37 12 129559341 129559341 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:129559341G>T ENST00000422113.2 - 9 2705 c.2379C>A c.(2377-2379)atC>atA p.I793I TMEM132D_ENST00000389441.4_Silent_p.I331I NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 793 integral to membrane p.I793I(1) NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) ATTTAACTTTGATGTTTGCCG 0.483000 94 144 2.68873e-43 4.53799e-43 0.048971 1 0 TNRC6A 27327 broad.mit.edu 37 16 24802953 24802953 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr16:24802953G>T ENST00000395799.3 + 6 3119 c.2990G>T c.(2989-2991)cGc>cTc p.R997L TNRC6A_ENST00000315183.7_Missense_Mutation_p.R997L NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 997 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding p.R997L(1) breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TCTATACGTCGCAAAATGGAG 0.483000 13 73 2.31682e-05 2.51946e-05 0.024245 1 0 ADAMTS5 11096 broad.mit.edu 37 21 28296423 28296423 + Silent SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr21:28296423A>T ENST00000284987.5 - 8 2863 c.2742T>A c.(2740-2742)ccT>ccA p.P914P AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 914 TSP type-1 2. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding p.P914P(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 TTTGGGAGAGAGGACATCCTT 0.507000 15 53 0 0 0.024245 0 0 SYDE2 84144 broad.mit.edu 37 1 85648290 85648290 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:85648290A>G ENST00000341460.5 - 3 2084 c.2035T>C c.(2035-2037)Tct>Cct p.S679P NM_032184.1 NP_115560.1 Q5VT97 SYDE2_HUMAN synapse defective 1, Rho GTPase, homolog 2 (C. elegans) 679 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity p.S601P(1)|p.S679P(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 20 all cancers(265;0.0126)|Epithelial(280;0.0336) ATGAGCCCAGATATGTACTGT 0.343000 18 25 0 0 0.049695 0 0 DUOX2 50506 broad.mit.edu 37 15 45391598 45391598 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr15:45391598G>T ENST00000389039.6 - 26 3883 c.3498C>A c.(3496-3498)aaC>aaA p.N1166K DUOX2_ENST00000603300.1_Missense_Mutation_p.N1166K Q9NRD8 DUOX2_HUMAN dual oxidase 2 1166 Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity p.N1166K(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) TCACAAAGACGTTGGGGAATA 0.532000 16 39 4.75885e-15 6.47829e-15 0.033300 1 0 FRG2B 441581 broad.mit.edu 37 10 135438905 135438905 + Missense_Mutation SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:135438905C>G ENST00000443774.1 - 4 587 c.538G>C c.(538-540)Gtg>Ctg p.V180L FRG2B_ENST00000425520.1_Missense_Mutation_p.V179L Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 179 nucleus p.V180L(1) endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) ATAGCTCGCACAGAGGTCACC 0.562000 7 344 0 0 0.062417 0 0 TNS4 84951 broad.mit.edu 37 17 38636951 38636951 + Splice_Site SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:38636951C>A ENST00000254051.6 - 9 1900 c.e9+1 NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding p.?(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) GTACCACTCACCCGCAGATTT 0.622000 10 60 1.3612e-06 1.53857e-06 0.024245 1 0 CHL1 10752 broad.mit.edu 37 3 424293 424293 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:424293G>T ENST00000256509.2 + 18 2757 c.2115G>T c.(2113-2115)gtG>gtT p.V705V CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Silent_p.V689V NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 689 axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix p.V705V(1) NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TCATAGCCGTGAACGAAGTAG 0.473000 10 41 7.03913e-09 8.49707e-09 0.013537 1 0 PCDHA12 56137 broad.mit.edu 37 5 140255747 140255747 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:140255747A>G ENST00000398631.2 + 1 690 c.690A>G c.(688-690)atA>atG p.I230M PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 p.I230M(1) NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGATTCAAATAACCGTCCTGG 0.433000 39 83 0 0 0.033182 0 0 IVL 3713 broad.mit.edu 37 1 152882670 152882670 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:152882670C>A ENST00000368764.3 + 2 461 c.397C>A c.(397-399)Caa>Aaa p.Q133K IVL_ENST00000392667.2_5'UTR P07476 INVO_HUMAN involucrin 133 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity p.Q133K(1) breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CTTAGACCAGCAACTGGATCA 0.493000 13 45 8.60227e-14 1.14595e-13 0.028581 1 0 ATP2B3 492 broad.mit.edu 37 X 152826288 152826288 + Silent SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chrX:152826288C>T ENST00000370186.1 + 17 3278 c.2952C>T c.(2950-2952)gaC>gaT p.D984D ATP2B3_ENST00000393842.1_Silent_p.D984D|ATP2B3_ENST00000370181.2_Silent_p.D984D|ATP2B3_ENST00000359149.3_Silent_p.D998D|ATP2B3_ENST00000349466.2_Silent_p.D998D|ATP2B3_ENST00000263519.4_Silent_p.D998D Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 998 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding p.D998D(3)|p.D984D(1) NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ACGTGTTCGACGGCATCTTCA 0.542000 54 38 0 0 0.048971 0 0 ZNF248 57209 broad.mit.edu 37 10 38120804 38120804 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:38120804T>C ENST00000395867.3 - 6 2029 c.1479A>G c.(1477-1479)atA>atG p.I493M ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.I493M|ZNF248_ENST00000494133.1_Intron NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2 NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1 Q8NDW4 ZN248_HUMAN zinc finger protein 248 493 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I493M(1) NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 ATTCATTACATATAAACGGTT 0.433000 27 73 0 0 0.037714 0 0 MUC4 4585 broad.mit.edu 37 3 195511959 195511959 + Silent SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:195511959G>A ENST00000463781.3 - 2 6951 c.6492C>T c.(6490-6492)acC>acT p.T2164T MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T2164T|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 943 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGGAAGTGTCGGTGACAGGAA 0.577000 2 2 0 0 0.004672 0 0 SUZ12P1 440423 broad.mit.edu 37 17 29061941 29061941 + RNA SNP T T C rs112064181 by1000genomes TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:29061941T>C ENST00000582557.1 + 0 861 TAGATTTCTTTGAACTCGGAA 0.303000 4 59 0 0 0.014758 0 0 ZNF135 7694 broad.mit.edu 37 19 58579319 58579319 + Silent SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:58579319A>G ENST00000506786.1 + 5 1895 c.1341A>G c.(1339-1341)acA>acG p.T447T ZNF135_ENST00000313434.5_Silent_p.T489T|ZNF135_ENST00000439855.2_Silent_p.T489T|ZNF135_ENST00000511556.1_Silent_p.T501T|ZNF135_ENST00000401053.4_Silent_p.T513T|ZNF135_ENST00000359978.6_Intron B4DHH9 B4DHH9_HUMAN zinc finger protein 135 501 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.T513T(1)|p.T489T(1) breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) GAATCCACACAGGGGAGAAGC 0.567000 15 78 0 0 0.028581 0 0 VPS16 64601 broad.mit.edu 37 20 2846896 2846896 + Nonsense_Mutation SNP C C A rs141400236 byFrequency TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr20:2846896C>A ENST00000380445.3 + 23 2382 c.2310C>A c.(2308-2310)taC>taA p.Y770* VPS16_ENST00000380469.3_Nonsense_Mutation_p.Y626*|VPS16_ENST00000380443.3_Nonsense_Mutation_p.Y456*|PTPRA_ENST00000380393.3_Intron NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 770 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 ATAACAAATACGAAGCCAAGA 0.547000 13 62 7.41877e-09 8.92646e-09 0.062417 1 0 UGT3A1 133688 broad.mit.edu 37 5 35968187 35968187 + Missense_Mutation SNP G G C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:35968187G>C ENST00000274278.3 - 3 602 c.245C>G c.(244-246)cCt>cGt p.P82R UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.P28R|UGT3A1_ENST00000503189.1_Missense_Mutation_p.P82R|UGT3A1_ENST00000507113.1_Missense_Mutation_p.P48R NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 82 integral to membrane glucuronosyltransferase activity p.P82R(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATGATCTTCAGGTGAAAACCA 0.318000 8 33 0 0 0.047766 0 0 FREM2 341640 broad.mit.edu 37 13 39261752 39261752 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr13:39261752C>T ENST00000280481.7 + 1 487 c.271C>T c.(271-273)Ccc>Tcc p.P91S NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 91 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.P91S(1) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CTGGCTGGATCCCCTGCATGA 0.692000 16 17 0 0 0.033300 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216428 20216428 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:20216428C>A ENST00000331723.1 + 1 842 c.842C>A c.(841-843)cCt>cAt p.P281H NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P281H(1) NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTGATTACACCTATGTTGAAC 0.418000 26 239 1.42536e-11 1.81453e-11 0.024334 1 0 CENPF 1063 broad.mit.edu 37 1 214818476 214818476 + Nonsense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:214818476G>T ENST00000366955.3 + 13 5731 c.5563G>T c.(5563-5565)Gag>Tag p.E1855* NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 1951 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding p.E1855*(1) NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TGATCACCAGGAGTTACTCCA 0.343000 5 44 5.9392e-07 6.77468e-07 0.021553 1 0 HK3 3101 broad.mit.edu 37 5 176308305 176308305 + Silent SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:176308305C>G ENST00000292432.5 - 18 2716 c.2625G>C c.(2623-2625)ccG>ccC p.P875P NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 875 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity p.P875P(2) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGACTCACCGCGGGTGCAGCT 0.672000 39 130 0 0 0.048971 0 0 LAMB4 22798 broad.mit.edu 37 7 107704266 107704266 + Missense_Mutation SNP C C T rs142967094 TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:107704266C>T ENST00000388781.3 - 22 3084 c.3001G>A c.(3001-3003)Gca>Aca p.A1001T LAMB4_ENST00000205386.4_Missense_Mutation_p.A1001T|LAMB4_ENST00000388780.3_Missense_Mutation_p.A1001T NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1001 Laminin EGF-like 10. 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 TGGCAGTTTGCGCCCTGAGTG 0.527000 4 200 0 0 0.009096 0 0 OR10A3 26496 broad.mit.edu 37 11 7960643 7960643 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:7960643A>G ENST00000360759.3 - 1 498 c.425T>C c.(424-426)aTg>aCg p.M142T NM_001003745.1 NP_001003745.1 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, member 3 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M142T(1) endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TACTAATTTCATAAAAACCCC 0.423000 4 100 0 0 0.014758 0 0 GCNT2 2651 broad.mit.edu 37 6 10556946 10556946 + Missense_Mutation SNP A A G rs55988612 TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr6:10556946A>G ENST00000316170.3 + 1 707 c.290A>G c.(289-291)tAt>tGt p.Y97C GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron NM_001491.2 NP_001482.1 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 99 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity p.Y97C(1) endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) CCCTTGGCATATATAATGGTC 0.423000 88 90 0 0 0.048971 0 0 CPD 1362 broad.mit.edu 37 17 28791816 28791816 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:28791816A>G ENST00000225719.4 + 21 4203 c.4127A>G c.(4126-4128)tAt>tGt p.Y1376C CPD_ENST00000543464.2_Missense_Mutation_p.Y1129C NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 1376 proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding p.Y1376C(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 GAAACATTATATTCTAGCAAA 0.403000 17 56 0 0 0.049695 0 0 OR5I1 10798 broad.mit.edu 37 11 55703060 55703060 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:55703060C>T ENST00000301532.3 - 1 816 c.817G>A c.(817-819)Gat>Aat p.D273N NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D273N(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 ATAATTTTATCAGTGTTTGGA 0.408000 5 18 0 0 0.038147 0 0 FBXL7 23194 broad.mit.edu 37 5 15936997 15936997 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:15936997G>T ENST00000504595.1 + 4 1659 c.1178G>T c.(1177-1179)gGt>gTt p.G393V FBXL7_ENST00000329673.7_Missense_Mutation_p.G381V|FBXL7_ENST00000510662.1_Missense_Mutation_p.G346V NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 393 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.G393V(1) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 ACGGACCACGGTGTGGAGTAC 0.622000 6 19 0.00116845 0.00123815 0.021553 1 0 ANO6 196527 broad.mit.edu 37 12 45795743 45795743 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:45795743A>G ENST00000320560.8 + 13 1754 c.1552A>G c.(1552-1554)Ata>Gta p.I518V ANO6_ENST00000441606.2_Missense_Mutation_p.I500V|ANO6_ENST00000423947.3_Missense_Mutation_p.I539V|ANO6_ENST00000435642.1_Missense_Mutation_p.I518V|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Missense_Mutation_p.I518V NM_001025356.2 NP_001020527.2 Q4KMQ2 ANO6_HUMAN anoctamin 6 518 activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity p.I518V(2) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 CATCAGCTTTATAATTATCAT 0.388000 20 133 0 0 0.049695 0 0 DPP9 91039 broad.mit.edu 37 19 4685763 4685763 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:4685763G>A ENST00000262960.9 - 17 2183 c.1906C>T c.(1906-1908)Cct>Tct p.P636S DPP9_ENST00000598800.1_Missense_Mutation_p.P607S|AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000594671.1_Missense_Mutation_p.P607S NM_139159.4 NP_631898.3 Q86TI2 DPP9_HUMAN dipeptidyl-peptidase 9 607 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity p.P715S(1) cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) ATCTCTGGAGGAACATAATCC 0.627000 10 23 0 0 0.010729 0 0 CACNA1S 779 broad.mit.edu 37 1 201044702 201044702 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:201044702C>A ENST00000362061.3 - 13 2095 c.1869G>T c.(1867-1869)ggG>ggT p.G623G CACNA1S_ENST00000367338.3_Silent_p.G623G NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 623 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity p.G623G(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AGGCCATGATCCCATTGTACA 0.542000 83 195 2.20344e-50 3.75289e-50 0.048971 1 0 ATP6AP1L 92270 broad.mit.edu 37 5 81608494 81608494 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:81608494A>G ENST00000380167.4 + 9 1521 c.196A>G c.(196-198)Atc>Gtc p.I66V ATP6AP1L_ENST00000508366.1_3'UTR|ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.I66V Q52LC2 VAS1L_HUMAN ATPase, H+ transporting, lysosomal accessory protein 1-like 66 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism p.I66V(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 12 CCGAGTCGAGATCATTTCCAA 0.453000 OREG0016689 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 81 209 0 0 0.048971 0 0 NNT 23530 broad.mit.edu 37 5 43656049 43656049 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:43656049A>G ENST00000264663.5 + 15 2388 c.2167A>G c.(2167-2169)Att>Gtt p.I723V NNT_ENST00000344920.4_Missense_Mutation_p.I723V|NNT_ENST00000512996.2_Missense_Mutation_p.I592V NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 723 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding p.I723V(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) AGCTGAGTACATTATAGAATA 0.438000 16 47 0 0 0.033300 0 0 LOC100130700 100130700 broad.mit.edu 37 16 34739716 34739716 + RNA SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr16:34739716G>T ENST00000562591.1 - 0 206 NR_034019.1 TGTCCACCCTGCAGGGAGCTG 0.383000 10 39 7.48243e-07 8.50898e-07 0.058154 1 0 ZFYVE26 23503 broad.mit.edu 37 14 68272236 68272236 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:68272236C>A ENST00000347230.4 - 7 1255 c.1117G>T c.(1117-1119)Ggc>Tgc p.G373C ZFYVE26_ENST00000555452.1_Missense_Mutation_p.G373C NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 373 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding p.G373C(1) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TGTGTCCAGCCCAGGAGTACA 0.532000 29 69 1.45844e-13 1.93593e-13 0.054565 1 0 SP7 121340 broad.mit.edu 37 12 53722173 53722173 + Silent SNP C C T rs137853893 TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:53722173C>T ENST00000536324.2 - 3 1336 c.1053G>A c.(1051-1053)gaG>gaA p.E351E SP7_ENST00000537210.2_Silent_p.E333E|SP7_ENST00000303846.3_Silent_p.E351E NM_001173467.1 NP_001166938.1 Q8TDD2 SP7_HUMAN Sp7 transcription factor 351 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E351E(1) cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 14 TGAACTTCTTCTCCCGGGTGT 0.617000 OREG0021867 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 69 0 0 0.048971 0 0 SORCS1 114815 broad.mit.edu 37 10 108371774 108371774 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:108371774G>T ENST00000263054.6 - 22 2935 c.2928C>A c.(2926-2928)ttC>ttA p.F976L SORCS1_ENST00000369698.1_Missense_Mutation_p.F511L|SORCS1_ENST00000344440.6_Missense_Mutation_p.F976L|SORCS1_ENST00000478809.2_5'UTR NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 976 integral to membrane neuropeptide receptor activity|protein binding p.F976L(2) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GAAGAGACCGGAATTCCTCTG 0.443000 13 62 6.72482e-11 8.44565e-11 0.024245 1 0 NRXN3 9369 broad.mit.edu 37 14 79175581 79175581 + Missense_Mutation SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:79175581A>T ENST00000554719.1 + 4 615 c.124A>T c.(124-126)Atc>Ttc p.I42F RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.I42F NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 angiogenesis|cell adhesion integral to membrane p.I42F(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GAATAATGACATCCGTCTGGA 0.468000 16 57 0 0 0.055883 0 0 NOS2 4843 broad.mit.edu 37 17 26114747 26114747 + Missense_Mutation SNP G G C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:26114747G>C ENST00000313735.6 - 5 657 c.424C>G c.(424-426)Caa>Gaa p.Q142E NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 142 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding p.Q142E(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) TCGATAGCTTGAGGTAGAAGC 0.527000 68 220 0 0 0.048971 0 0 VPS16 64601 broad.mit.edu 37 20 2846897 2846897 + Nonsense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr20:2846897G>T ENST00000380445.3 + 23 2383 c.2311G>T c.(2311-2313)Gaa>Taa p.E771* VPS16_ENST00000380469.3_Nonsense_Mutation_p.E627*|VPS16_ENST00000380443.3_Nonsense_Mutation_p.E457*|PTPRA_ENST00000380393.3_Intron NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 771 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 TAACAAATACGAAGCCAAGAA 0.547000 13 62 5.26018e-13 6.8603e-13 0.062417 1 0 OR8J3 81168 broad.mit.edu 37 11 55904471 55904471 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:55904471C>T ENST00000301529.1 - 1 723 c.724G>A c.(724-726)Gct>Act p.A242T NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A242T(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) ATATGCGAAGCGCAGGTGGAA 0.393000 14 50 0 0 0.043863 0 0 ZNF135 7694 broad.mit.edu 37 19 58579321 58579321 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:58579321G>T ENST00000506786.1 + 5 1897 c.1343G>T c.(1342-1344)gGg>gTg p.G448V ZNF135_ENST00000313434.5_Missense_Mutation_p.G490V|ZNF135_ENST00000439855.2_Missense_Mutation_p.G490V|ZNF135_ENST00000511556.1_Missense_Mutation_p.G502V|ZNF135_ENST00000401053.4_Missense_Mutation_p.G514V|ZNF135_ENST00000359978.6_Intron B4DHH9 B4DHH9_HUMAN zinc finger protein 135 502 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.G490V(1)|p.G514V(1) breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) ATCCACACAGGGGAGAAGCCC 0.567000 15 78 7.05477e-17 9.89258e-17 0.033300 1 0 KLK7 5650 broad.mit.edu 37 19 51483646 51483646 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:51483646G>T ENST00000391807.1 - 4 420 c.319C>A c.(319-321)Cag>Aag p.Q107K KLK7_ENST00000336317.4_5'UTR|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595820.1_Missense_Mutation_p.Q107K|KLK7_ENST00000597707.1_Missense_Mutation_p.Q35K NM_139277.2 NP_644806.1 P49862 KLK7_HUMAN kallikrein-related peptidase 7 107 Peptidase S1. epidermis development|proteolysis extracellular region serine-type endopeptidase activity p.Q107K(1) NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895) ACATGGGTCTGTGTGGAGTAG 0.592000 25 65 1.77063e-15 2.43707e-15 0.027356 1 0 IRF9 10379 broad.mit.edu 37 14 24620762 24620762 + Silent SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:24620762A>T ENST00000558468.1 + 2 231 c.231A>T c.(229-231)ggA>ggT p.G77G RNF31_ENST00000382687.3_Silent_p.G451G|RNF31_ENST00000559275.1_Silent_p.G451G|RNF31_ENST00000324103.6_Silent_p.G602G p.G602G(1) TCCAGCACGGAGGTGATGTGT 0.637000 17 58 0 0 0.043863 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55340905 55340905 + Missense_Mutation SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:55340905T>A ENST00000391728.4 + 7 1123 c.1090T>A c.(1090-1092)Tgc>Agc p.C364S KIR3DL1_ENST00000541392.1_Missense_Mutation_p.C347S|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.C364S|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.C269S|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.C347S NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 p.C364S(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) tcatctcTGGTGCTCCAACAA 0.532000 39 38 0 0 0.021022 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102304772 102304772 + RNA SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr15:102304772T>C ENST00000561463.1 + 0 12818 CACAGCGGCGTGACGAGACTC 0.587000 5 21 0 0 0.014758 0 0 PPFIA1 8500 broad.mit.edu 37 11 70221071 70221071 + Missense_Mutation SNP A A C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:70221071A>C ENST00000253925.7 + 24 3402 c.3187A>C c.(3187-3189)Att>Ctt p.I1063L AP000487.5_ENST00000530690.1_RNA|AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.I1063L|PPFIA1_ENST00000530548.1_3'UTR NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 1063 SAM 3. cell-matrix adhesion cytoplasm protein binding|signal transducer activity p.I1063L(1) breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) GATCCTGTCAATTGGCCTTAA 0.423000 20 104 0 0 0.055883 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102312716 102312716 + RNA SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr15:102312716G>A ENST00000561463.1 + 0 14084 TCACATCTCGGCAGTGACCTG 0.577000 19 48 0 0 0.062417 0 0 XIST 7503 broad.mit.edu 37 X 73065721 73065721 + RNA SNP T T G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chrX:73065721T>G ENST00000429829.1 - 0 6867 NR_001564.2 ATCACGCACATAACAGGCCAA 0.532000 42 35 0 0 0.030466 0 0 UBR4 23352 broad.mit.edu 37 1 19433433 19433433 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:19433433C>A ENST00000375267.2 - 82 12136 c.12133G>T c.(12133-12135)Gtg>Ttg p.V4045L UBR4_ENST00000375254.3_Missense_Mutation_p.V4045L|UBR4_ENST00000375217.2_Missense_Mutation_p.V4038L|UBR4_ENST00000375226.2_Missense_Mutation_p.V4021L Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 4045 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding p.V4045L(1) breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TATGGCTTCACCGTGGTGAGG 0.577000 6 27 0.0381472 0.0395248 0.038147 1 0 ACOXL 55289 broad.mit.edu 37 2 111556667 111556667 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:111556667G>A ENST00000389811.4 + 7 761 c.537G>A c.(535-537)atG>atA p.M179I ACOXL_ENST00000439055.1_Missense_Mutation_p.M179I|ACOXL_ENST00000340561.4_Missense_Mutation_p.M179I Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 179 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity p.M179I(2) kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 TTGATATGATGTACAAGGAGG 0.502000 46 95 0 0 0.048971 0 0 SSPO 23145 broad.mit.edu 37 7 149522402 149522402 + RNA SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:149522402G>T ENST00000378016.2 + 0 14032 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity p.W65C(1) Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ATTCACCCTGGACTGTGCCAA 0.637000 28 145 6.00712e-18 8.61791e-18 0.050027 1 0 STK24 8428 broad.mit.edu 37 13 99127205 99127205 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr13:99127205C>T ENST00000397517.2 - 5 543 c.467G>A c.(466-468)gGc>gAc p.G156D STK24_ENST00000376547.3_Missense_Mutation_p.G168D|STK24_ENST00000539966.1_Missense_Mutation_p.G137D NM_001032296.2 NP_001027467.2 Q9Y6E0 STK24_HUMAN serine/threonine kinase 24 168 Protein kinase. cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity p.G168D(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CTTCACCTCGCCATGCTCAGA 0.617000 3 24 0 0 0.038147 0 0 FRMD6 122786 broad.mit.edu 37 14 52186866 52186866 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:52186866C>T ENST00000395718.2 + 11 1379 c.1094C>T c.(1093-1095)gCg>gTg p.A365V FRMD6_ENST00000553556.1_Missense_Mutation_p.A15V|FRMD6_ENST00000554167.1_Missense_Mutation_p.A296V|FRMD6_ENST00000356218.4_Missense_Mutation_p.A365V|FRMD6_ENST00000344768.5_Missense_Mutation_p.A373V NM_001267046.1|NM_152330.3 NP_001253975.1|NP_689543.1 Q96NE9 FRMD6_HUMAN FERM domain containing 6 373 cytoskeleton|mitochondrion|plasma membrane binding p.A365V(1) breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_epithelial(31;0.0163)|Breast(41;0.089) GGGAGCAGTGCGGGCAGCATG 0.607000 12 46 0 0 0.010729 0 0 PCDH12 51294 broad.mit.edu 37 5 141335023 141335023 + Silent SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:141335023C>T ENST00000231484.3 - 1 3604 c.2394G>A c.(2392-2394)gtG>gtA p.V798V NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 798 neuron recognition integral to plasma membrane calcium ion binding p.V798V(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTCCTTGTCCACATCTTTGT 0.612000 21 34 0 0 0.055883 0 0 MSH6 2956 broad.mit.edu 37 2 48027856 48027856 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:48027856T>C ENST00000234420.4 + 4 2886 c.2734T>C c.(2734-2736)Tgg>Cgg p.W912R MSH6_ENST00000538136.1_Missense_Mutation_p.W610R|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.W782R NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 912 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2)|p.W912R(1) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ATTGAACCGATGGGATACAGC 0.418000 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 49 121 0 0 0.048971 0 0 RYR2 6262 broad.mit.edu 37 1 237656365 237656365 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:237656365C>A ENST00000366574.2 + 19 2256 c.1939C>A c.(1939-1941)Cgt>Agt p.R647S RYR2_ENST00000542537.1_Missense_Mutation_p.R631S|RYR2_ENST00000360064.6_Missense_Mutation_p.R645S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 647 B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.R645S(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATTGCAGACACGTCTTGTGAA 0.443000 6 21 1.06961e-07 1.23519e-07 0.038147 1 0 MUC2 4583 broad.mit.edu 37 11 1080962 1080962 + Missense_Mutation SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:1080962T>A ENST00000441003.2 + 10 1373 c.1346T>A c.(1345-1347)cTg>cAg p.L449Q MUC2_ENST00000359061.5_Missense_Mutation_p.L449Q NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 449 VWFD 2. inner mucus layer|outer mucus layer protein binding p.L449Q(2) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ACGGTGGTGCTGCTGGCTGAC 0.647000 37 49 0 0 0.033182 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117417645 117417645 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:117417645C>A ENST00000160373.3 - 8 2789 c.2698G>T c.(2698-2700)Gtt>Ttt p.V900F NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 900 p.V900F(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GCAGGAACAACAGGCTTGGAT 0.493000 17 60 1.96292e-10 2.4244e-10 0.055883 1 0 AMTN 401138 broad.mit.edu 37 4 71390668 71390668 + Missense_Mutation SNP T T G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:71390668T>G ENST00000339336.4 + 5 414 c.284T>G c.(283-285)cTg>cGg p.L95R AMTN_ENST00000504451.1_Missense_Mutation_p.L94R NM_212557.2 NP_997722.1 Q6UX39 AMTN_HUMAN amelotin 95 biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth basal lamina|cell-cell junction p.L95R(1) NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1) 19 Lung(101;0.235) CAACAGCAACTGCACCCACAT 0.448000 18 30 0 0 0.049695 0 0 IGSF8 93185 broad.mit.edu 37 1 160063683 160063683 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:160063683C>T ENST00000368086.1 - 3 937 c.721G>A c.(721-723)Ggg>Agg p.G241R IGSF8_ENST00000314485.7_Missense_Mutation_p.G241R|IGSF8_ENST00000460351.1_5'UTR Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 241 Ig-like C2-type 2. cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding p.G241R(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) CGAAGCTCCCCTGCAGCCAAT 0.642000 20 35 0 0 0.014323 0 0 MAPK9 5601 broad.mit.edu 37 5 179666965 179666965 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:179666965G>A ENST00000452135.2 - 10 1317 c.1019C>T c.(1018-1020)gCc>gTc p.A340V MAPK9_ENST00000455781.1_Missense_Mutation_p.A340V|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000343111.6_Missense_Mutation_p.A340V|MAPK9_ENST00000347470.4_Missense_Mutation_p.A255V|MAPK9_ENST00000393360.3_Missense_Mutation_p.A340V P45984 MK09_HUMAN mitogen-activated protein kinase 9 340 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|protein binding p.A340V(3) central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTCCAACTGGGCATCATAAAT 0.343000 25 76 0 0 0.041601 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834059 125834059 + Silent SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:125834059C>T ENST00000299308.3 + 2 122 c.114C>T c.(112-114)ctC>ctT p.L38L TMEM132B_ENST00000418253.2_3'UTR NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 38 integral to membrane p.L38L(1) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CTGCTTACCTCCCCACGAACT 0.507000 40 235 0 0 0.030466 0 0 ELP4 26610 broad.mit.edu 37 11 31669325 31669325 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:31669325G>T ENST00000395934.2 + 8 971 c.964G>T c.(964-966)Gat>Tat p.D322Y Z83001.1_ENST00000429821.1_RNA|ELP4_ENST00000379163.5_Missense_Mutation_p.D323Y|ELP4_ENST00000350638.5_Missense_Mutation_p.D322Y Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 322 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding p.D322Y(2) breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) AACCTTGTCAGATGTAGTAGT 0.323000 14 46 1.37285e-15 1.90362e-15 0.028581 1 0 SLCO6A1 133482 broad.mit.edu 37 5 101748746 101748746 + Missense_Mutation SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:101748746A>T ENST00000506729.1 - 9 1745 c.1574T>A c.(1573-1575)tTt>tAt p.F525Y SLCO6A1_ENST00000513675.1_Missense_Mutation_p.F272Y|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.F525Y|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.F272Y|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.F463Y Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 525 Kazal-like. integral to membrane|plasma membrane transporter activity p.F525Y(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) GCAGGGAGAAAAATATTCAAT 0.303000 6 17 0 0 0.047766 0 0 SEC24D 9871 broad.mit.edu 37 4 119745843 119745843 + Silent SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:119745843A>G ENST00000379735.5 - 3 451 c.180T>C c.(178-180)ggT>ggC p.G60G SEC24D_ENST00000280551.6_Silent_p.G60G|SEC24D_ENST00000419654.2_5'UTR NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 60 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding p.G60G(1) breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 GAGGTGGGGGACCCGGAGGCA 0.542000 55 162 0 0 0.048971 0 0 C14orf37 145407 broad.mit.edu 37 14 58471506 58471506 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:58471506C>T ENST00000267485.7 - 8 2467 c.2273G>A c.(2272-2274)aGc>aAc p.S758N NM_001001872.2 NP_001001872.2 Q86TY3 CN037_HUMAN chromosome 14 open reading frame 37 758 integral to membrane binding p.S758N(1) breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 ATCTTGCATGCTGTTGAATTC 0.388000 29 116 0 0 0.034045 0 0 VPS53 55275 broad.mit.edu 37 17 600720 600720 + Translation_Start_Site SNP G G T rs138068150 TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:600720G>T ENST00000446250.2 - 0 369 VPS53_ENST00000291074.5_Missense_Mutation_p.L75M|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000437048.2_Missense_Mutation_p.L75M|VPS53_ENST00000401468.3_Missense_Mutation_p.L75M|VPS53_ENST00000571805.1_Missense_Mutation_p.L75M Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 homolog (S. cerevisiae) protein transport endosome membrane|Golgi apparatus p.L75M(2) breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1) 19 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) TTGTCATCCAGTCTCCTAGCA 0.378000 46 112 2.14674e-31 3.54307e-31 0.048971 1 0 LAMB2 3913 broad.mit.edu 37 3 49165961 49165961 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:49165961C>A ENST00000418109.1 - 16 2112 c.1948G>T c.(1948-1950)Gcc>Tcc p.A650S LAMB2_ENST00000305544.4_Missense_Mutation_p.A650S NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 650 Laminin IV type B. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity p.A650C(1) NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGGCTGTGGGCAGGCACAGGC 0.587000 10 54 1.49906e-05 1.64456e-05 0.020292 1 0 ACSL6 23305 broad.mit.edu 37 5 131308464 131308464 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:131308464T>C ENST00000379264.2 - 13 1399 c.1291A>G c.(1291-1293)Atc>Gtc p.I431V ACSL6_ENST00000379272.2_Missense_Mutation_p.I421V|ACSL6_ENST00000379246.1_Missense_Mutation_p.I417V|ACSL6_ENST00000296869.4_Missense_Mutation_p.I431V|ACSL6_ENST00000357096.1_Missense_Mutation_p.I331V|ACSL6_ENST00000379244.1_Missense_Mutation_p.I406V|ACSL6_ENST00000379255.1_Missense_Mutation_p.I331V|ACSL6_ENST00000543479.1_Missense_Mutation_p.I406V|ACSL6_ENST00000379249.3_Missense_Mutation_p.I406V|ACSL6_ENST00000544770.1_Missense_Mutation_p.I315V|ACSL6_ENST00000431707.1_Missense_Mutation_p.I386V|ACSL6_ENST00000379240.1_Missense_Mutation_p.I406V NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 406 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity p.I431V(2) NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCATTCCTGATGATTCCACTC 0.438000 36 91 0 0 0.036044 0 0 BCL11B 64919 broad.mit.edu 37 14 99724120 99724120 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:99724120C>T ENST00000345514.2 - 2 381 c.115G>A c.(115-117)Gag>Aag p.E39K BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000357195.3_Missense_Mutation_p.E39K NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 0 nucleus zinc ion binding p.E39K(1) NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CTTGGCTCCTCTATCTCCAGA 0.587000 T TLX3 T-ALL 16 36 0 0 0.038395 0 0 CDH6 1004 broad.mit.edu 37 5 31323229 31323229 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:31323229C>A ENST00000265071.2 + 12 2452 c.2187C>A c.(2185-2187)gcC>gcA p.A729A NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 729 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding p.A729A(1) NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 ACCCCACTGCCCCGCCATACG 0.557000 12 35 1.15088e-07 1.32493e-07 0.028581 1 0 OR51D1 390038 broad.mit.edu 37 11 4661687 4661687 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:4661687G>T ENST00000357605.2 + 1 743 c.667G>T c.(667-669)Gac>Tac p.D223Y NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D223Y(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) CATGGGTGTGGACTCTCTCTT 0.493000 30 117 1.22674e-20 1.85253e-20 0.033182 1 0 RBM10 8241 broad.mit.edu 37 X 47041247 47041247 + Nonsense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chrX:47041247G>T ENST00000377604.3 + 15 2417 c.1675G>T c.(1675-1677)Gaa>Taa p.E559* RBM10_ENST00000329236.7_Nonsense_Mutation_p.E481*|RBM10_ENST00000345781.6_Nonsense_Mutation_p.E482*|RBM10_ENST00000468791.1_Intron NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 559 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding p.E559*(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 CACTGCCCAGGAATCCTACAG 0.577000 12 12 5.50884e-06 6.07928e-06 0.013537 1 0 MGA 23269 broad.mit.edu 37 15 42041781 42041781 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr15:42041781G>T ENST00000219905.7 + 17 6157 c.5976G>T c.(5974-5976)aaG>aaT p.K1992N MGA_ENST00000389936.4_Missense_Mutation_p.K1953N|MGA_ENST00000566586.1_Missense_Mutation_p.K1783N|MGA_ENST00000570161.1_Missense_Mutation_p.K1992N|MGA_ENST00000545763.1_Missense_Mutation_p.K1783N NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 1953 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity p.K2041N(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) AAACGAAGAAGGTTCTACAGT 0.413000 23 51 6.32553e-13 8.22099e-13 0.024334 1 0 DPF3 8110 broad.mit.edu 37 14 73220047 73220047 + Missense_Mutation SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:73220047C>G ENST00000541685.1 - 3 238 c.226G>C c.(226-228)Gcc>Ccc p.A76P DPF3_ENST00000546183.1_Missense_Mutation_p.A86P|DPF3_ENST00000556509.1_Missense_Mutation_p.A76P NM_012074.3 NP_036206.3 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 76 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding p.A76P(2)|p.A75P(1) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1) 22 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) CAGCAGCGGGCAGGGTATGTA 0.557000 4 23 0 0 0.021553 0 0 SUN5 140732 broad.mit.edu 37 20 31587901 31587901 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr20:31587901T>C ENST00000356173.3 - 5 411 c.319A>G c.(319-321)Att>Gtt p.I107V SUN5_ENST00000375519.2_Silent_p.A84A|SUN5_ENST00000375523.3_Missense_Mutation_p.I82V NM_080675.3 NP_542406.2 Q8TC36 SUN5_HUMAN Sad1 and UNC84 domain containing 5 107 spermatogenesis p.I107V(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 AGGAGCAGAATGCCTGTCTTC 0.597000 9 21 0 0 0.013537 0 0 OR1J1 347168 broad.mit.edu 37 9 125239348 125239348 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr9:125239348G>T ENST00000259357.2 - 1 887 c.858C>A c.(856-858)aaC>aaA p.N286K NM_001004451.1 NP_001004451.1 Q8NGS3 OR1J1_HUMAN olfactory receptor, family 1, subfamily J, member 1 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N286K(1) endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 16 AAATGAATGGGTTCAACATGG 0.423000 48 102 2.23044e-30 3.64892e-30 0.048971 1 0 ST18 9705 broad.mit.edu 37 8 53079434 53079434 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr8:53079434G>T ENST00000276480.7 - 11 1865 c.1182C>A c.(1180-1182)caC>caA p.H394Q NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 394 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.H394Q(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CCCGCACTTTGTGGGGGCACC 0.557000 37 128 1.17475e-09 1.43666e-09 0.048971 1 0 GABRA5 2558 broad.mit.edu 37 15 27185181 27185181 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr15:27185181C>A ENST00000335625.5 + 9 1722 c.834C>A c.(832-834)tcC>tcA p.S278S GABRA5_ENST00000355395.5_Silent_p.S278S|GABRA5_ENST00000400081.3_Silent_p.S278S NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 278 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.S278S(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CACAGGTGTCCTTTTGGCTGA 0.507000 10 36 1.58986e-06 1.7862e-06 0.008291 1 0 FAM171A1 221061 broad.mit.edu 37 10 15326063 15326063 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:15326063G>T ENST00000378116.4 - 2 145 c.139C>A c.(139-141)Cag>Aag p.Q47K NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 47 integral to membrane p.Q47K(2) breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GCTACGGGCTGGTGGGTGCTG 0.532000 24 88 5.24475e-26 8.28937e-26 0.024334 1 0 MAP3K12 7786 broad.mit.edu 37 12 53876414 53876414 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:53876414G>T ENST00000267079.2 - 12 2299 c.2074C>A c.(2074-2076)Cgg>Agg p.R692R MAP3K12_ENST00000547488.1_Silent_p.R725R|MAP3K12_ENST00000547035.1_Silent_p.R725R NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 692 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding p.R692R(1)|p.R725R(1) NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 GACCCAGCCCGGCTTCCTCCC 0.627000 124 195 9.48018e-61 1.63709e-60 0.048971 1 0 PLK4 10733 broad.mit.edu 37 4 128814717 128814717 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:128814717G>A ENST00000270861.5 + 12 2646 c.2372G>A c.(2371-2373)aGg>aAg p.R791K PLK4_ENST00000513090.1_Missense_Mutation_p.R759K|PLK4_ENST00000514379.1_Missense_Mutation_p.R750K|PLK4_ENST00000507249.1_Missense_Mutation_p.R730K|PLK4_ENST00000515069.1_Missense_Mutation_p.R713K NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 791 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R791K(1) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 GAAGAGGAAAGGAAAACTAGG 0.328000 15 42 0 0 0.028581 0 0 GAL 51083 broad.mit.edu 37 11 68455487 68455487 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:68455487G>A ENST00000265643.3 + 4 400 c.142G>A c.(142-144)Gtt>Att p.V48I NM_015973.3 NP_057057.2 P22466 GALA_HUMAN galanin/GMAP prepropeptide 48 growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction extracellular region neuropeptide hormone activity p.V48I(1) lung(4) 4 Esophageal squamous(3;7.33e-10) Melanoma(852;0.0749) LUAD - Lung adenocarcinoma(13;0.0514) Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154) AACAGATGCCGTTGGCAACCA 0.572000 17 47 0 0 0.049695 0 0 CEP152 22995 broad.mit.edu 37 15 49030736 49030736 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr15:49030736C>A ENST00000380950.2 - 27 5030 c.4843G>T c.(4843-4845)Ggt>Tgt p.G1615C CEP152_ENST00000399334.3_Missense_Mutation_p.G1559C NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 1559 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding p.G1559C(1) breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) GAAAGATAACCGGATGGTGAA 0.378000 16 53 2.94398e-08 3.44234e-08 0.043863 1 0 OR2L13 284521 broad.mit.edu 37 1 248263535 248263535 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:248263535C>A ENST00000366478.2 + 3 1195 c.858C>A c.(856-858)ccC>ccA p.P286P OR2L13_ENST00000358120.2_Silent_p.P286P NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding p.P286P(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) TGCTCAATCCCATTATCTACA 0.493000 6 61 2.62144e-13 3.44295e-13 0.047766 1 0 LPHN2 23266 broad.mit.edu 37 1 82408764 82408764 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:82408764T>C ENST00000370728.1 + 8 1154 c.509T>C c.(508-510)aTt>aCt p.I170T LPHN2_ENST00000370725.1_Missense_Mutation_p.I170T|LPHN2_ENST00000335786.5_Missense_Mutation_p.I170T|LPHN2_ENST00000359929.3_Missense_Mutation_p.I170T|LPHN2_ENST00000370713.1_Missense_Mutation_p.I170T|LPHN2_ENST00000370727.1_Missense_Mutation_p.I170T|LPHN2_ENST00000370717.2_Missense_Mutation_p.I170T|LPHN2_ENST00000370730.1_Missense_Mutation_p.I170T|LPHN2_ENST00000370715.1_Missense_Mutation_p.I170T|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.I170T|LPHN2_ENST00000319517.6_Missense_Mutation_p.I170T|LPHN2_ENST00000370721.1_Missense_Mutation_p.I174T|LPHN2_ENST00000394879.1_Missense_Mutation_p.I170T|LPHN2_ENST00000370723.1_Missense_Mutation_p.I170T O95490 LPHN2_HUMAN latrophilin 2 170 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.I170T(2) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) GCAGATAAAATTTATTTCATG 0.408000 8 54 0 0 0.047766 0 0 FAM135B 51059 broad.mit.edu 37 8 139164306 139164306 + Missense_Mutation SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr8:139164306C>G ENST00000395297.1 - 13 2582 c.2412G>C c.(2410-2412)aaG>aaC p.K804N NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 804 p.K804N(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AACCTTGGCTCTTGCTGTGCA 0.517000 HNSCC(54;0.14) 27 93 0 0 0.037714 0 0 UBE4B 10277 broad.mit.edu 37 1 10155625 10155625 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:10155625G>A ENST00000343090.6 + 3 393 c.318G>A c.(316-318)atG>atA p.M106I UBE4B_ENST00000377157.3_5'UTR|UBE4B_ENST00000253251.8_Missense_Mutation_p.M106I NM_001105562.2 NP_001099032.1 O95155 UBE4B_HUMAN ubiquitination factor E4B 106 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding p.M106I(2) NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) CCCAGAGCATGGATATCGATG 0.448000 33 78 0 0 0.021022 0 0 LAMB3 3914 broad.mit.edu 37 1 209801421 209801421 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:209801421C>A ENST00000391911.1 - 10 1636 c.1247G>T c.(1246-1248)gGc>gTc p.G416V LAMB3_ENST00000356082.4_Missense_Mutation_p.G416V|LAMB3_ENST00000367030.3_Missense_Mutation_p.G416V NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 416 Laminin EGF-like 3. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity p.G416V(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) TCCAGTGAAGCCCGGCTTGCA 0.672000 OREG0014217 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 12 0.000602214 0.000641788 0.014758 1 0 ACKR2 1238 broad.mit.edu 37 3 42906917 42906917 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:42906917C>T ENST00000422265.1 + 3 1098 c.923C>T c.(922-924)tCc>tTc p.S308F CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Missense_Mutation_p.S308F|ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.S308F NM_001296.4 NP_001287.2 atypical chemokine receptor 2 p.S308F(1) TGCTGCTTTTCCCCCATCCTG 0.577000 39 205 0 0 0.036044 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144931038 144931038 + Missense_Mutation SNP G G C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:144931038G>C ENST00000529945.1 - 1 1110 c.671C>G c.(670-672)aCa>aGa p.T224R PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.T224R|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313382.9_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.T224R(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GGGTACCTTTGTGCTTGCTAA 0.552000 T PDGFRB MPD 17 168 0 0 0.038395 0 0 GCN1L1 10985 broad.mit.edu 37 12 120613618 120613618 + Missense_Mutation SNP G G C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:120613618G>C ENST00000300648.6 - 11 985 c.973C>G c.(973-975)Ctg>Gtg p.L325V NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 325 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding p.L325V(1) NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGGCGTGCCAGGTTCCGCAGT 0.572000 21 31 0 0 0.016522 0 0 LAMB2 3913 broad.mit.edu 37 3 49165960 49165960 + Missense_Mutation SNP G G C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:49165960G>C ENST00000418109.1 - 16 2113 c.1949C>G c.(1948-1950)gCc>gGc p.A650G LAMB2_ENST00000305544.4_Missense_Mutation_p.A650G NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 650 Laminin IV type B. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity p.A650C(1) NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CAGGCTGTGGGCAGGCACAGG 0.587000 10 55 0 0 0.020292 0 0 GRM7 2917 broad.mit.edu 37 3 7620718 7620718 + Missense_Mutation SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:7620718T>A ENST00000486284.1 + 8 2399 c.2125T>A c.(2125-2127)Tta>Ata p.L709I GRM7_ENST00000402647.2_Missense_Mutation_p.L709I|GRM7_ENST00000357716.4_Missense_Mutation_p.L709I|GRM7_ENST00000389336.4_Missense_Mutation_p.L709I|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Missense_Mutation_p.L709I NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 709 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding p.L709I(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) CACTTCCAGTTTAATATCAGT 0.418000 5 60 0 0 0.029380 0 0 ZNF221 7638 broad.mit.edu 37 19 44470819 44470819 + Missense_Mutation SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:44470819A>T ENST00000251269.5 + 6 1493 c.1165A>T c.(1165-1167)Aca>Tca p.T389S ZNF221_ENST00000592350.1_Missense_Mutation_p.T389S|ZNF221_ENST00000587682.1_Missense_Mutation_p.T389S NM_013359.2 NP_037491.2 Q9UK13 ZN221_HUMAN zinc finger protein 221 389 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T389S(1) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 Prostate(69;0.0352) GATGGTCCACACAGGAGAGAA 0.413000 42 111 0 0 0.030466 0 0 GNLY 10578 broad.mit.edu 37 2 85924772 85924772 + Silent SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:85924772G>A ENST00000409696.3 + 5 636 c.354G>A c.(352-354)gaG>gaA p.E118E GNLY_ENST00000263863.4_Silent_p.E133E|GNLY_ENST00000524600.1_Silent_p.E160E NM_012483.2 NP_036615.2 P22749 GNLY_HUMAN granulysin 133 Saposin B-type. cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space p.E133E(1) endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1) 19 AGATCTGTGAGGACCTCAGGT 0.542000 29 59 0 0 0.041601 0 0 CST9 128822 broad.mit.edu 37 20 23586393 23586393 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr20:23586393C>A ENST00000376971.3 - 1 120 c.109G>T c.(109-111)Ggt>Tgt p.G37C NM_001008693.2 NP_001008693.2 Q5W186 CST9_HUMAN cystatin 9 (testatin) 37 extracellular region cysteine-type endopeptidase inhibitor activity p.G37C(1) central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 12 Colorectal(13;0.0993) TTATTATTACCACCCATTTCC 0.517000 52 227 1.4374e-25 2.26224e-25 0.048971 1 0 ITGA8 8516 broad.mit.edu 37 10 15573137 15573137 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:15573137G>A ENST00000378076.3 - 28 3247 c.2894C>T c.(2893-2895)cCc>cTc p.P965L NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 965 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity p.P965L(1) NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 AAGAGCATAGGGATCATTTTT 0.333000 36 98 0 0 0.023175 0 0 DIO3 1735 broad.mit.edu 37 14 102028497 102028497 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:102028497C>A ENST00000510508.4 + 1 810 c.664C>A c.(664-666)Ctg>Atg p.L222M DIO3_ENST00000359323.3_Missense_Mutation_p.L196M P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 196 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity p.S221_L222>RM(1)|p.S195_L196>RM(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) GCACCGGAGCCTGGAGGACCG 0.652000 41 180 8.00217e-19 1.1614e-18 0.048971 1 0 PDS5B 23047 broad.mit.edu 37 13 33344830 33344830 + Missense_Mutation SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr13:33344830A>T ENST00000315596.10 + 33 4289 c.4103A>T c.(4102-4104)cAg>cTg p.Q1368L NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 1368 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding p.Q1368L(1) NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) GAATCCACACAGTCCACACCA 0.368000 4 20 0 0 0.029380 0 0 STIP1 10963 broad.mit.edu 37 11 63964764 63964764 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:63964764G>A ENST00000358794.5 + 6 1388 c.835G>A c.(835-837)Ggg>Agg p.G279R STIP1_ENST00000305218.4_Missense_Mutation_p.G232R|STIP1_ENST00000538945.1_Missense_Mutation_p.G208R P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 232 axon guidance|response to stress Golgi apparatus|nucleus p.G232R(1) endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1) 27 AAAAGAGCTGGGGAACGATGC 0.433000 17 43 0 0 0.049695 0 0 ZNF716 441234 broad.mit.edu 37 7 57529433 57529433 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:57529433C>A ENST00000420713.1 + 4 1378 c.1266C>A c.(1264-1266)acC>acA p.T422T NM_001159279.1 NP_001152751.1 zinc finger protein 716 p.T422T(2) breast(1)|kidney(1)|lung(20)|ovary(2) 24 GCTCCTCAACCCTTAAGAAAC 0.383000 5 36 2.0095e-06 2.23744e-06 0.029380 1 0 TTLL10 254173 broad.mit.edu 37 1 1118337 1118337 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:1118337C>T ENST00000379290.1 + 11 1171 c.998C>T c.(997-999)gCc>gTc p.A333V TTLL10_ENST00000379288.3_Missense_Mutation_p.A260V|TTLL10_ENST00000379289.1_Missense_Mutation_p.A333V Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 333 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity p.A260V(1) haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GAGGAAGTTGCCGCCCTGCAG 0.662000 3 16 0 0 0.004672 0 0 CSMD1 64478 broad.mit.edu 37 8 3889486 3889486 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr8:3889486G>A ENST00000602557.1 - 4 1106 c.551C>T c.(550-552)aCc>aTc p.T184I CSMD1_ENST00000542608.1_Missense_Mutation_p.T184I|CSMD1_ENST00000400186.3_Missense_Mutation_p.T184I|CSMD1_ENST00000537824.1_Missense_Mutation_p.T184I|CSMD1_ENST00000539096.1_Missense_Mutation_p.T184I|CSMD1_ENST00000520002.1_Missense_Mutation_p.T184I|CSMD1_ENST00000602723.1_Missense_Mutation_p.T184I Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 184 Sushi 1. integral to membrane p.T184I(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GACGATGCAGGTCAGGATGGC 0.552000 7 33 0 0 0.008291 0 0 THEMIS 387357 broad.mit.edu 37 6 128134393 128134393 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr6:128134393C>A ENST00000368250.1 - 5 1654 c.1156G>T c.(1156-1158)Gat>Tat p.D386Y THEMIS_ENST00000543064.1_Missense_Mutation_p.D465Y|THEMIS_ENST00000368248.2_Missense_Mutation_p.D465Y|THEMIS_ENST00000537166.1_Missense_Mutation_p.D430Y Q8N1K5 THMS1_HUMAN thymocyte selection associated 465 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus p.D465Y(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 ATGGAAAGATCCCTGACAGAC 0.468000 31 58 4.34311e-12 5.54787e-12 0.059317 1 0 PHACTR3 116154 broad.mit.edu 37 20 58322818 58322818 + Missense_Mutation SNP G G C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr20:58322818G>C ENST00000371015.1 + 3 753 c.286G>C c.(286-288)Gag>Cag p.E96Q PHACTR3_ENST00000541461.1_Missense_Mutation_p.E55Q|PHACTR3_ENST00000395639.4_Missense_Mutation_p.E55Q|PHACTR3_ENST00000355648.4_Missense_Mutation_p.E55Q|PHACTR3_ENST00000395636.2_Missense_Mutation_p.E55Q|PHACTR3_ENST00000359926.3_Missense_Mutation_p.E93Q|PHACTR3_ENST00000361300.4_Missense_Mutation_p.E55Q NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 96 nuclear matrix actin binding|protein phosphatase inhibitor activity p.E96Q(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) GGCAGCGCTGGAGAAGAAGAT 0.587000 48 187 0 0 0.048971 0 0 ZNF718 255403 broad.mit.edu 37 4 155375 155375 + RNA SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:155375A>T ENST00000510175.1 + 0 810 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) CCCTTAATGAACATAAGAGAA 0.368000 6 25 0 0 0.021553 0 0 OR1D5 8386 broad.mit.edu 37 17 2966252 2966252 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:2966252G>T ENST00000575751.1 - 1 649 c.650C>A c.(649-651)tCc>tAc p.S217Y NM_014566.1 NP_055381.1 P58170 OR1D5_HUMAN olfactory receptor, family 1, subfamily D, member 5 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S217F(4)|p.S217Y(2) kidney(1)|lung(10) 11 ACGTACATAGGATGTGGTCAT 0.507000 12 50 9.31168e-06 1.02456e-05 0.016723 1 0 KRTAP4-2 85291 broad.mit.edu 37 17 39334304 39334304 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:39334304G>A ENST00000377726.2 - 1 156 c.113C>T c.(112-114)cCc>cTc p.P38L NM_033062.3 NP_149051.1 Q9BYR5 KRA42_HUMAN keratin associated protein 4-2 38 20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ]. keratin filament p.P155L(1)|p.P38L(1) kidney(2)|lung(4)|upper_aerodigestive_tract(1) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGCAGCTGGGGCGGCAGCA 0.657000 20 69 0 0 0.023175 0 0 LRRC27 80313 broad.mit.edu 37 10 134188652 134188652 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:134188652G>A ENST00000368610.3 + 10 1313 c.1313G>A c.(1312-1314)gGa>gAa p.G438E LRRC27_ENST00000368612.1_Missense_Mutation_p.G438E|LRRC27_ENST00000368614.3_Missense_Mutation_p.G500E|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368613.4_Missense_Mutation_p.G500E|LRRC27_ENST00000475747.1_3'UTR Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 500 p.G500E(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 18 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) GCCCTCACTGGAAACCTTTCG 0.468000 4 74 0 0 0.021553 0 0 PPCS 79717 broad.mit.edu 37 1 42922700 42922700 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:42922700A>G ENST00000372561.3 + 1 471 c.464A>G c.(463-465)tAt>tGt p.Y155C PPCS_ENST00000372556.3_Intron|PPCS_ENST00000372562.1_Intron|PPCS_ENST00000372560.3_Missense_Mutation_p.Y155C|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000455780.1_Intron NM_024664.2 NP_078940.2 Q9HAB8 PPCS_HUMAN phosphopantothenoylcysteine synthetase 155 coenzyme biosynthetic process|pantothenate metabolic process cytosol phosphopantothenate--cysteine ligase activity p.Y155C(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3) 12 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TTGGCGGACTATTTGCATCTG 0.582000 21 54 0 0 0.018920 0 0 DET1 55070 broad.mit.edu 37 15 89070888 89070888 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr15:89070888C>T ENST00000564406.1 - 4 1406 c.1246G>A c.(1246-1248)Gaa>Aaa p.E416K DET1_ENST00000268148.8_Missense_Mutation_p.E405K|DET1_ENST00000444300.1_Missense_Mutation_p.E416K NM_017996.3 NP_060466.2 Q7L5Y6 DET1_HUMAN de-etiolated homolog 1 (Arabidopsis) 405 nucleus p.E416K(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) AACTGAACTTCACTGTGCAGG 0.448000 17 40 0 0 0.014323 0 0 LGR5 8549 broad.mit.edu 37 12 71978097 71978097 + Silent SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:71978097C>T ENST00000266674.5 + 18 2618 c.2307C>T c.(2305-2307)gcC>gcT p.A769A LGR5_ENST00000536515.1_Silent_p.A697A|LGR5_ENST00000540815.2_Silent_p.A745A O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 769 integral to plasma membrane protein-hormone receptor activity p.A769A(1) NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 AACACATTGCCCTGTTGCTCT 0.433000 104 143 0 0 0.048971 0 0 AXIN2 8313 broad.mit.edu 37 17 63534419 63534419 + Missense_Mutation SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:63534419C>G ENST00000307078.5 - 5 1415 c.1102G>C c.(1102-1104)Gcc>Ccc p.A368P AXIN2_ENST00000375702.5_Missense_Mutation_p.A368P|CTD-2535L24.2_ENST00000577662.1_3'UTR NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 368 Interaction with GSK3B (By similarity). cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding p.A368P(1) NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 GCAAAGGTGGCGGGTTCCACG 0.627000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 16 67 0 0 0.033300 0 0 SEMA3A 10371 broad.mit.edu 37 7 83610721 83610721 + Missense_Mutation SNP G G C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:83610721G>C ENST00000265362.3 - 14 1882 c.1568C>G c.(1567-1569)gCg>gGg p.A523G SEMA3A_ENST00000436949.1_Missense_Mutation_p.A523G NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 523 axon guidance extracellular region|membrane receptor activity p.A523G(1) breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 CTCAGCACACGCTTTCCCGTA 0.483000 11 20 0 0 0.016723 0 0 C1orf127 148345 broad.mit.edu 37 1 11008316 11008316 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:11008316G>A ENST00000377004.4 - 12 1875 c.1876C>T c.(1876-1878)Cgc>Tgc p.R626C C1orf127_ENST00000377008.4_Missense_Mutation_p.R459C NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 477 p.R459C(1)|p.R626C(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) CCTGTCTGGCGTGGCCTCTCC 0.657000 24 140 0 0 0.037714 0 0 ARFIP2 23647 broad.mit.edu 37 11 6500372 6500372 + Nonsense_Mutation SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:6500372T>A ENST00000254584.2 - 4 396 c.313A>T c.(313-315)Aag>Tag p.K105* ARFIP2_ENST00000445086.2_Intron|ARFIP2_ENST00000396777.3_Nonsense_Mutation_p.K105*|ARFIP2_ENST00000423813.2_Nonsense_Mutation_p.K67*|ARFIP2_ENST00000525235.1_Nonsense_Mutation_p.K105* NM_012402.3 NP_036534.1 P53365 ARFP2_HUMAN ADP-ribosylation factor interacting protein 2 105 actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction cell cortex|plasma membrane|ruffle GTP binding|GTP-dependent protein binding|Rac GTPase binding p.K105*(1) endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2) 15 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AATCCTACCTTATAGGTGTTG 0.488000 23 92 0 0 0.021523 0 0 ZNF664 144348 broad.mit.edu 37 12 124496938 124496938 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:124496938G>T ENST00000539644.1 + 6 2077 c.247G>T c.(247-249)Gtg>Ttg p.V83L RP11-522N14.1_ENST00000540762.1_RNA|ZNF664_ENST00000538932.2_Missense_Mutation_p.V83L|ZNF664_ENST00000337815.4_Missense_Mutation_p.V83L|ZNF664_ENST00000392404.3_Missense_Mutation_p.V83L Q8N3J9 ZN664_HUMAN zinc finger protein 664 83 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V83L(1) breast(1)|large_intestine(5)|lung(6)|skin(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249) AATCCACACAGTGGAGAAGCC 0.388000 70 88 1.58458e-29 2.56978e-29 0.048971 1 0 PCDHB4 56131 broad.mit.edu 37 5 140502904 140502904 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:140502904G>T ENST00000194152.1 + 1 1324 c.1324G>T c.(1324-1326)Gac>Tac p.D442Y NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 442 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.D442Y(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGGTCTCCGACGTCAATGA 0.607000 36 162 6.86731e-36 1.14866e-35 0.027894 1 0 MME 4311 broad.mit.edu 37 3 154884701 154884701 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:154884701C>A ENST00000460393.1 + 18 1791 c.1671C>A c.(1669-1671)gcC>gcA p.A557A MME-AS1_ENST00000484721.1_RNA|MME_ENST00000492661.1_Silent_p.A557A|MME_ENST00000360490.2_Silent_p.A557A|MME_ENST00000493237.1_Silent_p.A557A|MME_ENST00000462745.1_Silent_p.A557A NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 557 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding p.A557A(1) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TCTTCCCAGCCGGCATTCTGC 0.463000 38 122 1.69901e-12 2.18528e-12 0.023175 1 0 KCNQ2 3785 broad.mit.edu 37 20 62038665 62038665 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr20:62038665G>A ENST00000354587.3 - 17 2151 c.1975C>T c.(1975-1977)Ccc>Tcc p.P659S KCNQ2_ENST00000370226.1_Missense_Mutation_p.P621S|KCNQ2_ENST00000359689.1_Missense_Mutation_p.P651S|KCNQ2_ENST00000370224.1_Missense_Mutation_p.P659S|KCNQ2_ENST00000359125.2_Missense_Mutation_p.P651S|KCNQ2_ENST00000360480.3_Missense_Mutation_p.P623S|KCNQ2_ENST00000357249.2_Missense_Mutation_p.P633S|KCNQ2_ENST00000430658.1_Missense_Mutation_p.P620S|KCNQ2_ENST00000344462.3_Missense_Mutation_p.P647S O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 651 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.P651S(1) biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) TCTGTCGGGGGGATGCCCATC 0.647000 17 58 0 0 0.043863 0 0 ITGA6 3655 broad.mit.edu 37 2 173340413 173340413 + Splice_Site SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:173340413G>A ENST00000375221.2 + 9 1589 c.1386_splice c.e9+1 p.Q462_splice ITGA6_ENST00000264106.6_Splice_Site_p.Q462_splice|ITGA6_ENST00000409532.1_Splice_Site_p.Q304_splice|ITGA6_ENST00000264107.7_Splice_Site_p.Q423_splice|ITGA6_ENST00000409080.1_Splice_Site_p.Q423_splice|ITGA6_ENST00000343713.4_Splice_Site_p.Q418_splice P23229 ITA6_HUMAN integrin, alpha 6 462 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity p.Q423Q(2) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) AACCAACACAGGTAACCAAAT 0.343000 38 97 0 0 0.021022 0 0 MYH8 4626 broad.mit.edu 37 17 10314198 10314198 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:10314198G>T ENST00000403437.2 - 15 1577 c.1483C>A c.(1483-1485)Cac>Aac p.H495N CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 495 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle p.H495N(1) NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 ACAAACATGTGGTGGTTGAAA 0.448000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 50 148 2.29192e-23 3.53258e-23 0.048971 1 0 IGF2BP2 10644 broad.mit.edu 37 3 185363402 185363402 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:185363402G>A ENST00000382199.2 - 16 1812 c.1717C>T c.(1717-1719)Cgc>Tgc p.R573C IGF2BP2_ENST00000457616.2_Missense_Mutation_p.R579C|IGF2BP2_ENST00000421047.2_Missense_Mutation_p.R516C|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.R530C NM_006548.4 NP_006539.3 Q9Y6M1 IF2B2_HUMAN insulin-like growth factor 2 mRNA binding protein 2 573 KH 4. anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity p.R573C(1) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 20 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) CTGATCTTGCGCTGTGCAGTC 0.577000 11 106 0 0 0.016723 0 0 DDX50 79009 broad.mit.edu 37 10 70666761 70666761 + Nonsense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:70666761G>T ENST00000373585.3 + 2 489 c.382G>T c.(382-384)Gag>Tag p.E128* NM_024045.1 NP_076950.1 Q9BQ39 DDX50_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 128 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding p.E128*(1) breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 29 TAAACTAGAGGAGGTATGGAA 0.274000 20 79 2.37509e-13 3.13042e-13 0.055883 1 0 SPAST 6683 broad.mit.edu 37 2 32289089 32289089 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:32289089G>T ENST00000315285.3 + 1 314 c.189G>T c.(187-189)ctG>ctT p.L63L SPAST_ENST00000345662.1_Silent_p.L63L NM_014946.3 NP_055761.2 Q9UBP0 SPAST_HUMAN spastin 63 Required for interaction with ATL1.|Required for interaction with RTN1.|Required for interaction with SSNA1 and microtubules.|Required for midbody localization. cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity p.L63L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GCTTCGCGCTGCTGCGTTTGG 0.701000 13 39 1.5739e-10 1.97001e-10 0.028581 1 0 VPS13B 157680 broad.mit.edu 37 8 100454673 100454673 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr8:100454673G>T ENST00000395996.1 + 23 3366 c.3255G>T c.(3253-3255)ctG>ctT p.L1085L VPS13B_ENST00000358544.2_Silent_p.L1085L|VPS13B_ENST00000357162.2_Silent_p.L1085L Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1085 protein transport p.L1085L(2) NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ATGATAGCCTGCCTTCCCCAA 0.398000 30 60 1.90571e-15 2.61334e-15 0.019004 1 0 HRNR 388697 broad.mit.edu 37 1 152191540 152191540 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:152191540G>T ENST00000368801.2 - 3 2640 c.2565C>A c.(2563-2565)ggC>ggA p.G855G FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 855 keratinization calcium ion binding|protein binding p.G855G(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGTCATGTTGGCCGGAGCTTG 0.582000 72 102 9.04243e-43 1.51929e-42 0.048971 1 0 PRPF38B 55119 broad.mit.edu 37 1 109241810 109241810 + Missense_Mutation SNP G G C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:109241810G>C ENST00000370021.1 + 7 1113 c.476G>C c.(475-477)cGg>cCg p.R159P PRPF38B_ENST00000370025.4_Missense_Mutation_p.R270P Q5VTL8 PR38B_HUMAN pre-mRNA processing factor 38B 270 mRNA processing|RNA splicing spliceosomal complex p.R270P(1) NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1) 19 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161) CTGAGTCCACGGAGGTCCCCA 0.433000 30 57 0 0 0.041601 0 0 APOB 338 broad.mit.edu 37 2 21260849 21260849 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:21260849G>T ENST00000233242.1 - 5 645 c.518C>A c.(517-519)gCc>gAc p.A173D APOB_ENST00000399256.4_Missense_Mutation_p.A173D NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 173 Vitellogenin. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.A173D(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CACTTGCTTGGCTTCTTCTGT 0.463000 39 131 1.00776e-21 1.53426e-21 0.048971 1 0 AMD1 262 broad.mit.edu 37 6 111214177 111214177 + Missense_Mutation SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr6:111214177A>T ENST00000368885.3 + 8 1109 c.773A>T c.(772-774)aAc>aTc p.N258I AMD1_ENST00000368877.5_Missense_Mutation_p.N229I|AMD1_ENST00000368876.1_Missense_Mutation_p.N189I|AMD1_ENST00000368882.3_Missense_Mutation_p.N110I|AMD1_ENST00000451850.2_Missense_Mutation_p.N138I NM_001634.4 NP_001625.2 P17707 DCAM_HUMAN adenosylmethionine decarboxylase 1 258 spermidine biosynthetic process|spermine biosynthetic process cytosol adenosylmethionine decarboxylase activity p.N258I(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2) 8 all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143) S-Adenosylmethionine(DB00118) TTTGAAACAAACTTAAGTCAG 0.363000 72 70 0 0 0.048971 0 0 GKN1 56287 broad.mit.edu 37 2 69204898 69204898 + Missense_Mutation SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:69204898T>A ENST00000377938.2 + 3 301 c.238T>A c.(238-240)Tat>Aat p.Y80N NM_019617.3 NP_062563.3 Q9NS71 GKN1_HUMAN gastrokine 1 80 BRICHOS. digestion|positive regulation of cell division extracellular region p.Y80N(1) breast(2)|large_intestine(4)|lung(5) 11 CATCTGGGATTATGGAAATGT 0.363000 27 54 0 0 0.045705 0 0 GPR158 57512 broad.mit.edu 37 10 25886829 25886829 + Silent SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:25886829T>C ENST00000376351.3 + 11 2633 c.2274T>C c.(2272-2274)atT>atC p.I758I GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 758 integral to membrane|plasma membrane G-protein coupled receptor activity p.I758I(1) breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TGAGACGCATTACGGAGATCC 0.522000 28 124 0 0 0.034045 0 0 SLC18A3 6572 broad.mit.edu 37 10 50818983 50818983 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:50818983G>T ENST00000374115.3 + 1 637 c.197G>T c.(196-198)gGg>gTg p.G66V CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 66 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity p.G66L(1) endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 CACATGCGCGGGGGCGGCGAG 0.672000 5 18 2.7689e-08 3.25804e-08 0.029380 1 0 LDLRAP1 26119 broad.mit.edu 37 1 25880433 25880433 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:25880433G>T ENST00000374338.4 + 2 228 c.109G>T c.(109-111)Gac>Tac p.D37Y LDLRAP1_ENST00000488127.1_3'UTR NM_015627.2 NP_056442.2 Q5SW96 ARH_HUMAN low density lipoprotein receptor adaptor protein 1 37 amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity p.D37Y(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1) 9 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649) GAACTGGACAGACACGCGGGA 0.647000 10 40 7.03913e-09 8.49707e-09 0.013537 1 0 ZFHX3 463 broad.mit.edu 37 16 72830619 72830619 + Missense_Mutation SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr16:72830619A>T ENST00000268489.5 - 9 6634 c.5962T>A c.(5962-5964)Tgc>Agc p.C1988S ZFHX3_ENST00000397992.5_Missense_Mutation_p.C1074S NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 1988 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.C1988S(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AACTTGCCGCAGGAGTCACAC 0.433000 49 165 0 0 0.048971 0 0 UBR3 130507 broad.mit.edu 37 2 170871812 170871812 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:170871812G>T ENST00000272793.5 + 30 4439 c.4389G>T c.(4387-4389)ttG>ttT p.L1463F UBR3_ENST00000392631.1_Missense_Mutation_p.L284F|UBR3_ENST00000418381.1_Missense_Mutation_p.L1463F|UBR3_ENST00000465630.1_3'UTR Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) 1463 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding p.L316F(1)|p.L1463F(1) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 AACTTGAATTGATTCATCGAG 0.318000 9 20 0.000442599 0.000473036 0.058154 1 0 ZNF676 163223 broad.mit.edu 37 19 22363270 22363270 + Nonsense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:22363270C>A ENST00000397121.2 - 3 1566 c.1249G>T c.(1249-1251)Gga>Tga p.G417* NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 417 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G417*(1) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GGTTTCTCTCCAGTATGAATT 0.433000 27 47 1.88708e-17 2.66622e-17 0.037714 1 0 GAS7 8522 broad.mit.edu 37 17 9820602 9820602 + Missense_Mutation SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:9820602C>G ENST00000396115.1 - 14 1504 c.1194G>C c.(1192-1194)gaG>gaC p.E398D GAS7_ENST00000583882.1_Intron|GAS7_ENST00000323816.4_Missense_Mutation_p.E394D|GAS7_ENST00000432992.2_Missense_Mutation_p.E458D|GAS7_ENST00000542249.1_Missense_Mutation_p.E403D|GAS7_ENST00000585266.1_Missense_Mutation_p.E394D|GAS7_ENST00000540214.1_Missense_Mutation_p.E163D|GAS7_ENST00000580865.1_Missense_Mutation_p.E318D|GAS7_ENST00000437099.2_Missense_Mutation_p.E394D|GAS7_ENST00000579158.1_Missense_Mutation_p.E410D NM_201432.1 NP_958836.1 O60861 GAS7_HUMAN growth arrest-specific 7 458 cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity p.E318D(1)|p.E458D(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 39 TGACCCACAGCTCCCTGTCTT 0.612000 T MLL AML* 36 95 0 0 0.036044 0 0 LRRC40 55631 broad.mit.edu 37 1 70641659 70641659 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:70641659G>A ENST00000370952.3 - 7 890 c.811C>T c.(811-813)Cac>Tac p.H271Y NM_017768.4 NP_060238.3 Q9H9A6 LRC40_HUMAN leucine rich repeat containing 40 271 p.H271Y(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2) 27 TCACCTACGTGCAATTCCTAC 0.308000 4 47 0 0 0.014758 0 0 APOB 338 broad.mit.edu 37 2 21246397 21246397 + Splice_Site SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:21246397G>T ENST00000233242.1 - 17 2731 c.2604_splice c.e17+1 p.N868_splice NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 868 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.N868K(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AGAATCTTACGTTGGCTACTT 0.403000 26 82 1.74197e-06 1.95122e-06 0.030593 1 0 LRRN2 10446 broad.mit.edu 37 1 204587527 204587527 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:204587527G>T ENST00000367175.1 - 1 3806 c.1594C>A c.(1594-1596)Cgg>Agg p.R532R LRRN2_ENST00000367177.3_Silent_p.R532R|LRRN2_ENST00000367176.3_Silent_p.R532R O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 532 cell adhesion integral to membrane receptor activity p.R532R(1) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) TCCTGCACCCGGAGCTCCAGC 0.637000 37 70 6.19805e-25 9.67311e-25 0.023175 1 0 SLCO1A2 6579 broad.mit.edu 37 12 21457403 21457403 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:21457403T>C ENST00000307378.6 - 7 1267 c.547A>G c.(547-549)Ata>Gta p.I183V SLCO1A2_ENST00000452078.1_Missense_Mutation_p.I183V|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.I51V|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.I51V|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.I181V NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 183 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity p.I183V(1) breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 AAATCTTCTATATAGGAAATA 0.363000 33 43 0 0 0.050027 0 0 DIDO1 11083 broad.mit.edu 37 20 61542643 61542643 + Nonsense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr20:61542643C>A ENST00000266070.4 - 3 647 c.322G>T c.(322-324)Gag>Tag p.E108* DIDO1_ENST00000395335.2_Nonsense_Mutation_p.E108*|DIDO1_ENST00000395340.1_Nonsense_Mutation_p.E108*|DIDO1_ENST00000370368.1_Nonsense_Mutation_p.E108*|DIDO1_ENST00000395343.1_Nonsense_Mutation_p.E108*|DIDO1_ENST00000266071.5_Nonsense_Mutation_p.E108*|DIDO1_ENST00000370371.4_Nonsense_Mutation_p.E108*|DIDO1_ENST00000354665.4_Nonsense_Mutation_p.E108*|DIDO1_ENST00000370366.1_Nonsense_Mutation_p.E108* NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 108 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.E108*(2) NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GAGGCTGTCTCGGCGTCTGTG 0.642000 10 29 1.5842e-08 1.88788e-08 0.016723 1 0 MAGEB16 139604 broad.mit.edu 37 X 35820818 35820818 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chrX:35820818G>T ENST00000399989.1 + 2 784 c.505G>T c.(505-507)Gat>Tat p.D169Y MAGEB16_ENST00000399987.1_Missense_Mutation_p.D169Y|MAGEB16_ENST00000399988.1_Missense_Mutation_p.D169Y|MAGEB16_ENST00000399992.1_Missense_Mutation_p.D201Y|MAGEB16_ENST00000399985.1_Missense_Mutation_p.D169Y NM_001099921.1 NP_001093391.1 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 169 MAGE. p.D336Y(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 ATTTGGCCTTGATGTGGTGGA 0.488000 43 44 5.78141e-17 8.13761e-17 0.045515 1 0 GCKR 2646 broad.mit.edu 37 2 27731038 27731038 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:27731038C>A ENST00000264717.2 + 16 1405 c.1342C>A c.(1342-1344)Cct>Act p.P448T GCKR_ENST00000424318.2_Missense_Mutation_p.P258T NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 448 SIS 2. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding p.P448N(1) breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) TCTCCAGATCCCTCTGAAGAA 0.532000 18 81 9.16793e-09 1.09604e-08 0.033300 1 0 KIAA0556 23247 broad.mit.edu 37 16 27772805 27772805 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr16:27772805G>T ENST00000261588.4 + 19 3722 c.3703G>T c.(3703-3705)Ggc>Tgc p.G1235C NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 1235 p.G1235C(2) breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 GGAAGTGGTGGGCAAGGAGGG 0.602000 11 55 1.58986e-06 1.7862e-06 0.008291 1 0 SEMA6D 80031 broad.mit.edu 37 15 48063266 48063266 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr15:48063266G>T ENST00000316364.5 + 19 2945 c.2506G>T c.(2506-2508)Gac>Tac p.D836Y SEMA6D_ENST00000536845.2_Missense_Mutation_p.D836Y|SEMA6D_ENST00000537942.1_Missense_Mutation_p.D774Y|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000358066.4_Missense_Mutation_p.D774Y|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000558014.1_Missense_Mutation_p.D774Y|SEMA6D_ENST00000354744.4_Missense_Mutation_p.D780Y|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D817Y|SEMA6D_ENST00000389428.3_Missense_Mutation_p.D761Y|SEMA6D_ENST00000389432.2_Missense_Mutation_p.D793Y NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 836 axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity p.D774Y(1)|p.D836Y(1) biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TGCTACCCATGACTACAACAC 0.443000 40 93 1.57019e-19 2.30584e-19 0.030466 1 0 KCNK10 54207 broad.mit.edu 37 14 88652442 88652442 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:88652442G>T ENST00000340700.5 - 7 1505 c.1054C>A c.(1054-1056)Cgg>Agg p.R352R KCNK10_ENST00000319231.5_Silent_p.R357R|KCNK10_ENST00000312350.5_Silent_p.R357R NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 352 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity p.R357R(2)|p.R352R(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 CGTGTCTCCCGGAACTCAGCC 0.622000 3 17 0.000157383 0.00016869 0.038147 1 0 IRF8 3394 broad.mit.edu 37 16 85945192 85945192 + Silent SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr16:85945192A>T ENST00000268638.5 + 4 797 c.375A>T c.(373-375)gcA>gcT p.A125A NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 125 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity p.A125A(1) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) TAGGCGTGGCAACTGCTGGCT 0.507000 7 56 0 0 0.016723 0 0 HOMEZ 57594 broad.mit.edu 37 14 23746238 23746238 + Missense_Mutation SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:23746238T>A ENST00000357460.5 - 2 363 c.199A>T c.(199-201)Aat>Tat p.N67Y HOMEZ_ENST00000561013.1_Missense_Mutation_p.N69Y|HOMEZ_ENST00000431326.2_Missense_Mutation_p.N69Y NM_020834.2 NP_065885.2 Q8IX15 HOMEZ_HUMAN homeobox and leucine zipper encoding 67 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.N67Y(1)|p.N43Y(1) endometrium(5)|lung(7) 12 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) AGGTGTTCATTGCTGTCTAGC 0.527000 23 92 0 0 0.016522 0 0 GRAMD4 23151 broad.mit.edu 37 22 47058939 47058939 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr22:47058939C>T ENST00000406902.1 + 6 682 c.469C>T c.(469-471)Cgc>Tgc p.R157C GRAMD4_ENST00000361034.3_Missense_Mutation_p.R157C Q6IC98 GRAM4_HUMAN GRAM domain containing 4 157 apoptosis integral to membrane|mitochondrial membrane p.R157C(1) breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 12 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) CCCTGCAGAGCGCCGGAGCCA 0.677000 26 46 0 0 0.059317 0 0 GPIHBP1 338328 broad.mit.edu 37 8 144297309 144297309 + Silent SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr8:144297309C>T ENST00000330824.2 + 4 546 c.471C>T c.(469-471)ccC>ccT p.P157P NM_178172.3 NP_835466.1 Q8IV16 HDBP1_HUMAN glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 157 cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity p.P157P(1) lung(2) 2 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) CAGGCGGCCCCCGGGGCAGCT 0.692000 31 54 0 0 0.045705 0 0 PCDHA6 56142 broad.mit.edu 37 5 140207895 140207895 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:140207895C>A ENST00000529310.1 + 1 333 c.219C>A c.(217-219)gaC>gaA p.D73E PCDHA6_ENST00000527624.1_Missense_Mutation_p.D73E|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 p.D73E(2) NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCGCGAGGACCTTCTGGAGG 0.632000 90 263 1.37074e-43 2.32403e-43 0.048971 1 0 RASGRF2 5924 broad.mit.edu 37 5 80503114 80503114 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:80503114T>C ENST00000265080.4 + 21 3084 c.3017T>C c.(3016-3018)cTg>cCg p.L1006P CTC-281B15.1_ENST00000503483.2_RNA NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 1006 Ras-GEF. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity p.L1006P(1) biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) GCCATGGAGCTGGCAGAACAG 0.572000 5 70 0 0 0.014758 0 0 DCHS2 54798 broad.mit.edu 37 4 155278377 155278377 + Missense_Mutation SNP T T G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:155278377T>G ENST00000357232.3 - 6 793 c.794A>C c.(793-795)cAc>cCc p.H265P DCHS2_ENST00000339452.1_Intron NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 265 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.H265P(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ctacttgaagtgccttagcag 0.403000 52 140 0 0 0.048971 0 0 WRN 7486 broad.mit.edu 37 8 30999102 30999102 + Missense_Mutation SNP G G C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr8:30999102G>C ENST00000298139.5 + 25 3373 c.3124G>C c.(3124-3126)Gcc>Ccc p.A1042P NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 1042 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding p.A1042P(1) central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) GAAGATTTGCGCCCTTACGAA 0.403000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 18 47 0 0 0.055883 0 0 POLR2A 5430 broad.mit.edu 37 17 7405880 7405880 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:7405880G>A ENST00000322644.6 + 16 3015 c.2616G>A c.(2614-2616)atG>atA p.M872I NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 872 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding p.M872I(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) AGTCAGTGATGGTGAAGTACG 0.582000 19 63 0 0 0.055883 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84530750 84530750 + RNA SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr9:84530750C>A ENST00000527857.1 + 0 772 NR_026851.1 CCCCTTTTCCCACCGCATCAC 0.532000 48 96 1.61863e-15 2.2361e-15 0.048971 1 0 SEMA6C 10500 broad.mit.edu 37 1 151110269 151110269 + Missense_Mutation SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:151110269T>A ENST00000341697.3 - 10 2365 c.674A>T c.(673-675)cAc>cTc p.H225L Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 225 Sema. integral to membrane receptor activity p.H225L(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) CTGGACAAAGTGTGGCTCTAA 0.547000 37 137 0 0 0.019004 0 0 USP44 84101 broad.mit.edu 37 12 95927916 95927916 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:95927916C>A ENST00000258499.3 - 2 405 c.117G>T c.(115-117)tgG>tgT p.W39C USP44_ENST00000552440.1_Missense_Mutation_p.W39C|USP44_ENST00000537435.2_Missense_Mutation_p.W39C|USP44_ENST00000393091.2_Missense_Mutation_p.W39C NM_001278393.1|NM_032147.2 NP_001265322.1|NP_115523.2 Q9H0E7 UBP44_HUMAN ubiquitin specific peptidase 44 39 anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.W39C(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 TAAGGCAAGCCCAAATGGACT 0.507000 OREG0022039 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 125 2.65835e-16 3.69986e-16 0.034045 1 0 CHRND 1144 broad.mit.edu 37 2 233398943 233398943 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:233398943C>A ENST00000258385.3 + 11 1294 c.1262C>A c.(1261-1263)cCa>cAa p.P421Q CHRND_ENST00000543200.1_Missense_Mutation_p.P406Q|CHRND_ENST00000457943.2_Missense_Mutation_p.P227Q NM_000751.2 NP_000742.1 Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 421 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity p.P421Q(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) GGCCGGCCCCCAGCAAGCTCT 0.597000 22 56 2.39556e-15 3.27306e-15 0.016522 1 0 GLRA2 2742 broad.mit.edu 37 X 14550471 14550471 + Missense_Mutation SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chrX:14550471C>G ENST00000218075.4 + 2 709 c.179C>G c.(178-180)gCa>gGa p.A60G GLRA2_ENST00000443437.2_5'UTR|GLRA2_ENST00000355020.4_Missense_Mutation_p.A60G NM_002063.3 NP_002054.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 60 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity p.A60G(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) GGATATGATGCAAGAATCAGG 0.378000 20 15 0 0 0.018920 0 0 CCDC94 55702 broad.mit.edu 37 19 4267771 4267771 + Splice_Site SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:4267771G>T ENST00000262962.7 + 7 927 c.859_splice c.e7+1 p.G287_splice NM_018074.4 NP_060544.2 Q9BW85 CCD94_HUMAN coiled-coil domain containing 94 287 p.G287*(1) NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2) 7 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183) CCCCACCCCAGGTAAGGTCAC 0.657000 OREG0025164 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 12 8.12818e-05 8.76246e-05 0.029380 1 0 ANXA3 306 broad.mit.edu 37 4 79522696 79522696 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:79522696G>A ENST00000264908.6 + 11 1142 c.763G>A c.(763-765)Gcc>Acc p.A255T ANXA3_ENST00000512884.1_Missense_Mutation_p.A216T|ANXA3_ENST00000503570.2_Missense_Mutation_p.A216T NM_005139.2 NP_005130.1 P12429 ANXA3_HUMAN annexin A3 255 defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity p.A255T(1) NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 GGCCTTTTTAGCCGAAAGACT 0.393000 40 67 0 0 0.048971 0 0 BTAF1 9044 broad.mit.edu 37 10 93695424 93695424 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:93695424C>T ENST00000265990.6 + 2 333 c.25C>T c.(25-27)Ctt>Ttt p.L9F NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 9 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity p.L9F(1) central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) GCTAGATCGCCTTTTTATTTT 0.378000 14 41 0 0 0.020292 0 0 MARK4 57787 broad.mit.edu 37 19 45762388 45762388 + Missense_Mutation SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:45762388A>T ENST00000300843.4 + 2 490 c.193A>T c.(193-195)Att>Ttt p.I65F MARK4_ENST00000262891.4_Missense_Mutation_p.I65F NM_031417.3 NP_113605.2 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 65 Protein kinase. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding p.I65F(2) NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) GCTGAGGACCATTGGGAAGGG 0.652000 16 43 0 0 0.043863 0 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143804 61143804 + RNA SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr20:61143804G>T ENST00000475015.1 - 0 534 C20orf166-AS1_ENST00000412495.1_RNA p.S15*(1) CTTGTGTGGTGAACTCCCCTC 0.672000 49 155 5.86059e-21 8.88618e-21 0.048971 1 0 AZI1 22994 broad.mit.edu 37 17 79182788 79182788 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:79182788T>C ENST00000269392.4 - 3 459 c.212A>G c.(211-213)aAc>aGc p.N71S AZI1_ENST00000575907.1_Missense_Mutation_p.N71S|AZI1_ENST00000374782.3_Missense_Mutation_p.N71S|AZI1_ENST00000450824.2_Missense_Mutation_p.N71S NM_014984.2 NP_055799.2 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 71 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle p.N71S(2) breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5) 36 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) TCTAAGGTTGTTGATGGCCTG 0.592000 16 44 0 0 0.055883 0 0 DIO3 1735 broad.mit.edu 37 14 102028496 102028496 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:102028496C>A ENST00000510508.4 + 1 809 c.663C>A c.(661-663)agC>agA p.S221R DIO3_ENST00000359323.3_Missense_Mutation_p.S195R P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 195 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity p.S221_L222>RM(1)|p.S195_L196>RM(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) AGCACCGGAGCCTGGAGGACC 0.647000 41 178 8.00217e-19 1.1614e-18 0.048971 1 0 SETD1A 9739 broad.mit.edu 37 16 30991099 30991099 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr16:30991099C>T ENST00000262519.8 + 14 4678 c.3992C>T c.(3991-3993)cCa>cTa p.P1331L NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1331 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding p.P1331L(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 TTCAGTTCCCCAGCTGATGAG 0.716000 4 7 0 0 0.021553 0 0 CSPG4 1464 broad.mit.edu 37 15 75975009 75975009 + Silent SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr15:75975009C>G ENST00000308508.5 - 7 4814 c.4722G>C c.(4720-4722)gtG>gtC p.V1574V NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1574 Gly/Ser-rich (glycosaminoglycan attachment domain). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity p.V1574V(1) breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 TCTGGGCCGTCACTCGGAAGA 0.632000 27 81 0 0 0.027356 0 0 PRKCA 5578 broad.mit.edu 37 17 64770156 64770156 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:64770156G>A ENST00000413366.3 + 14 1602 c.1576G>A c.(1576-1578)Gtc>Atc p.V526I NM_002737.2 NP_002728.1 P17252 KPCA_HUMAN protein kinase C, alpha 526 Protein kinase. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding p.V526I(1) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) GGCCTATGGCGTCCTGTTGTA 0.423000 15 202 0 0 0.024245 0 0 TREX2 11219 broad.mit.edu 37 X 152710691 152710691 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chrX:152710691C>A ENST00000330912.2 - 13 1748 c.198G>T c.(196-198)ccG>ccT p.P66P TREX2_ENST00000334497.2_Silent_p.P109P|TREX2_ENST00000338525.2_Silent_p.P66P|TREX2_ENST00000393862.2_Silent_p.P66P|TREX2_ENST00000414588.1_Silent_p.P108P|TREX2_ENST00000370231.2_Silent_p.P66P|TREX2_ENST00000402951.1_Silent_p.P109P|TREX2_ENST00000370232.1_Silent_p.P109P Q9BQ50 TREX2_HUMAN three prime repair exonuclease 2 109 DNA repair nucleus 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding p.P66P(1)|p.P109P(1) endometrium(4)|large_intestine(2)|lung(3)|ovary(2) 11 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGGGGCGCTCCGGGCACATGC 0.667000 Editing and processing nucleases 21 15 2.44723e-14 3.30731e-14 0.024334 1 0 FHL5 9457 broad.mit.edu 37 6 97053871 97053871 + Missense_Mutation SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr6:97053871T>A ENST00000326771.2 + 5 808 c.428T>A c.(427-429)aTc>aAc p.I143N FHL5_ENST00000541107.1_Missense_Mutation_p.I143N NM_020482.4 NP_065228.4 Q5TD97 FHL5_HUMAN four and a half LIM domains 5 143 LIM zinc-binding 2. nucleus zinc ion binding p.I143N(1) endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1) 27 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) AAGCCTTTGATCTCCAAAGAG 0.413000 6 77 0 0 0.029380 0 0 OR8U1 219417 broad.mit.edu 37 11 56143647 56143647 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:56143647C>T ENST00000302270.1 + 1 548 c.548C>T c.(547-549)cCt>cTt p.P183L NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 p.P183L(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) GATGACATGCCTCTCCTCAGG 0.463000 17 225 0 0 0.043863 0 0 VPS16 64601 broad.mit.edu 37 20 2846898 2846898 + Missense_Mutation SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr20:2846898A>T ENST00000380445.3 + 23 2384 c.2312A>T c.(2311-2313)gAa>gTa p.E771V VPS16_ENST00000380469.3_Missense_Mutation_p.E627V|VPS16_ENST00000380443.3_Missense_Mutation_p.E457V|PTPRA_ENST00000380393.3_Intron NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 771 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 AACAAATACGAAGCCAAGAAG 0.552000 13 62 0 0 0.062417 0 0 GRIP1 23426 broad.mit.edu 37 12 66786504 66786504 + Missense_Mutation SNP T T G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:66786504T>G ENST00000359742.4 - 18 2462 c.2222A>C c.(2221-2223)cAg>cCg p.Q741P GRIP1_ENST00000286445.7_Missense_Mutation_p.Q741P|GRIP1_ENST00000398016.3_Missense_Mutation_p.Q689P Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 741 PDZ 6. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity p.Q689P(1) NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) TCCTGCCATCTGTAACAAATG 0.438000 28 169 0 0 0.050027 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140784669 140784669 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:140784669G>A ENST00000573521.1 + 1 2150 c.2150G>A c.(2149-2151)aGg>aAg p.R717K PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCAGGCTGAGGCACTGGCAC 0.592000 22 106 0 0 0.014323 0 0 CDHR1 92211 broad.mit.edu 37 10 85961589 85961589 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:85961589C>A ENST00000372117.3 + 7 655 c.552C>A c.(550-552)gaC>gaA p.D184E CDHR1_ENST00000332904.3_Missense_Mutation_p.D184E NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 184 Cadherin 2. homophilic cell adhesion calcium ion binding|receptor activity p.D184E(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 TTGCCGTGGACCGCCACAGCG 0.617000 15 41 9.16793e-09 1.09604e-08 0.033300 1 0 GRIN2B 2904 broad.mit.edu 37 12 13715944 13715944 + Missense_Mutation SNP T T G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:13715944T>G ENST00000279593.3 - 13 4437 c.4228A>C c.(4228-4230)Acg>Ccg p.T1410P NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1410 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.T1410P(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCCGCCACCGTGGGCTGCCTG 0.632000 27 35 0 0 0.041601 0 0 OR4N5 390437 broad.mit.edu 37 14 20612554 20612554 + Silent SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:20612554C>T ENST00000333629.1 + 1 660 c.660C>T c.(658-660)gtC>gtT p.V220V NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V220V(1) endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) CCTATGCAGTCATCCTCTGTC 0.507000 33 105 0 0 0.045705 0 0 KEAP1 9817 broad.mit.edu 37 19 10600477 10600477 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:10600477T>C ENST00000171111.5 - 4 1925 c.1378A>G c.(1378-1380)Agg>Ggg p.R460G KEAP1_ENST00000393623.2_Missense_Mutation_p.R460G NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 460 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.R460G(1) breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) ACCCCGATCCTTCGTGTCAGC 0.552000 14 24 0 0 0.033300 0 0 SLC25A48 153328 broad.mit.edu 37 5 135188390 135188390 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:135188390C>A ENST00000274513.5 + 4 473 c.301C>A c.(301-303)Cgc>Agc p.R101S SLC25A48_ENST00000420621.1_Missense_Mutation_p.R101S|SLC25A48_ENST00000433282.2_Missense_Mutation_p.R47S|SLC25A48_ENST00000412661.2_Missense_Mutation_p.R101S|SLC25A48_ENST00000425402.1_Intron Q6ZT89 S2548_HUMAN solute carrier family 25, member 48 101 transmembrane transport integral to membrane|mitochondrial inner membrane binding p.R101S(4) NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 CAGTCCTCCCCGCACGCTGTC 0.647000 20 91 6.45866e-13 8.36486e-13 0.033182 1 0 KIF1B 23095 broad.mit.edu 37 1 10407886 10407886 + Splice_Site SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:10407886G>T ENST00000377086.1 + 36 4066 c.e36+1 KIF1B_ENST00000377081.1_Splice_Site|KIF1B_ENST00000465635.1_Splice_Site|KIF1B_ENST00000263934.6_Splice_Site O60333 KIF1B_HUMAN kinesin family member 1B anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding p.?(1) breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GCTTCATCAGGTACTAATGAG 0.398000 20 62 2.37509e-13 3.13042e-13 0.055883 1 0 ROBO3 64221 broad.mit.edu 37 11 124744018 124744018 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:124744018A>G ENST00000397801.1 + 12 2029 c.1837A>G c.(1837-1839)Aca>Gca p.T613A ROBO3_ENST00000538940.1_Missense_Mutation_p.T591A NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 613 Fibronectin type-III 1. axon midline choice point recognition integral to membrane receptor activity p.T613A(2) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) GCAGCTGGAGACACACACAGT 0.587000 49 209 0 0 0.048971 0 0 SKIV2L2 23517 broad.mit.edu 37 5 54618257 54618257 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:54618257G>T ENST00000230640.5 + 2 491 c.237G>T c.(235-237)aaG>aaT p.K79N SKIV2L2_ENST00000545714.1_Intron|SKIV2L2_ENST00000504388.1_3'UTR NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) 79 maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.K79N(1) NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) TTGGAAAGAAGCCCAGGATAG 0.318000 20 78 3.62473e-10 4.46213e-10 0.062417 1 0 CRB1 23418 broad.mit.edu 37 1 197390532 197390532 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:197390532T>C ENST00000367400.3 + 6 1709 c.1574T>C c.(1573-1575)tTc>tCc p.F525S CRB1_ENST00000543483.1_Missense_Mutation_p.F224S|CRB1_ENST00000535699.1_Missense_Mutation_p.F456S|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.F525S|CRB1_ENST00000367399.2_Missense_Mutation_p.F413S|CRB1_ENST00000544212.1_Missense_Mutation_p.F6S NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 525 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.F525S(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CTTCTACTTTTCCGAAGCAAC 0.458000 35 64 0 0 0.025465 0 0 PIP5K1C 23396 broad.mit.edu 37 19 3664855 3664855 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:3664855C>A ENST00000335312.3 - 3 272 c.184G>T c.(184-186)Ggt>Tgt p.G62C PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.G62C|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.G62C|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.G62C NM_001195733.1|NM_012398.2 NP_001182662.1|NP_036530.1 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 62 axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding p.G62C(1) large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) GCGTCCACACCTCGATGGCCC 0.622000 47 84 9.72345e-25 1.51119e-24 0.048971 1 0 BASP1 10409 broad.mit.edu 37 5 17275921 17275921 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:17275921C>T ENST00000322611.3 + 2 856 c.596C>T c.(595-597)gCc>gTc p.A199V NM_001271606.1|NM_006317.3 NP_001258535.1|NP_006308.3 P80723 BASP1_HUMAN brain abundant, membrane attached signal protein 1 199 glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding p.A199V(1) endometrium(1)|lung(8) 9 ACACCCAAGGCCCAGGGCCCC 0.652000 8 39 0 0 0.047766 0 0 EFCAB6 64800 broad.mit.edu 37 22 43936185 43936185 + Missense_Mutation SNP T T G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr22:43936185T>G ENST00000262726.7 - 28 3954 c.3701A>C c.(3700-3702)tAc>tCc p.Y1234S EFCAB6_ENST00000396231.2_Missense_Mutation_p.Y1082S|EFCAB6_ENST00000461800.1_5'UTR NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1234 EF-hand 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding p.Y1234S(1) breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) GAAGTCCGGGTATTTCAGCCT 0.572000 23 50 0 0 0.021523 0 0 ABCG5 64240 broad.mit.edu 37 2 44051409 44051409 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:44051409A>G ENST00000405322.1 - 5 1450 c.554T>C c.(553-555)tTc>tCc p.F185S ABCG5_ENST00000260645.1_Missense_Mutation_p.F356S|ABCG5_ENST00000543989.1_Intron Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 356 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity p.F356S(1) breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TTTGGTTTTGAAAGGAACCAT 0.378000 49 175 0 0 0.048971 0 0 EPHA6 285220 broad.mit.edu 37 3 97124023 97124023 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:97124023G>T ENST00000389672.5 + 6 1674 c.1636G>T c.(1636-1638)Gac>Tac p.D546Y NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 451 integral to plasma membrane ATP binding|ephrin receptor activity p.D452Y(2)|p.D546Y(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 GGTAAGGAAGGACTGGGCATC 0.398000 4 4 0.014758 0.0153763 0.014758 1 0 ZNHIT2 741 broad.mit.edu 37 11 64884413 64884413 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:64884413G>A ENST00000310597.4 - 1 757 c.713C>T c.(712-714)tCt>tTt p.S238F NM_014205.2 NP_055020.1 Q9UHR6 ZNHI2_HUMAN zinc finger, HIT-type containing 2 238 metal ion binding p.S238F(1) breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 ACAGAAGTCAGAGAGCAGCGC 0.662000 6 19 0 0 0.029380 0 0 NOS2 4843 broad.mit.edu 37 17 26114745 26114745 + Silent SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:26114745T>C ENST00000313735.6 - 5 659 c.426A>G c.(424-426)caA>caG p.Q142Q NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 142 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding p.Q142Q(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) ATTCGATAGCTTGAGGTAGAA 0.532000 66 216 0 0 0.048971 0 0 PPM1H 57460 broad.mit.edu 37 12 63042381 63042381 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr12:63042381G>T ENST00000228705.6 - 10 1733 c.1433C>A c.(1432-1434)gCc>gAc p.A478D PPM1H_ENST00000551214.1_5'UTR NM_020700.1 NP_065751.1 Q9ULR3 PPM1H_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1H 478 PP2C-like. phosphoprotein phosphatase activity p.A478D(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1) 18 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) CACACCCCGGGCACGCATCAC 0.517000 17 63 1.96292e-10 2.4244e-10 0.055883 1 0 ARHGEF11 9826 broad.mit.edu 37 1 156914841 156914841 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:156914841C>A ENST00000368194.3 - 30 4000 c.2961G>T c.(2959-2961)agG>agT p.R987S ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.R363S|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.R947S NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 947 PH. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity p.R987S(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGTTGCTGGCCCTCTCCAGGG 0.562000 91 253 3.99045e-58 6.85915e-58 0.048971 1 0 SIGLEC16 400709 broad.mit.edu 37 19 50473221 50473221 + RNA SNP T T C rs117072442 by1000genomes TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:50473221T>C ENST00000602139.1 + 0 222 sialic acid binding Ig-like lectin 16 (gene/pseudogene) p.W65R(3) endometrium(2)|kidney(2)|lung(6) 10 GTTCAAAGGATGGACCAGCCC 0.602000 3 79 0 0 0.004672 0 0 TRPC3 7222 broad.mit.edu 37 4 122853479 122853479 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:122853479G>T ENST00000264811.5 - 1 1133 c.715C>A c.(715-717)Cta>Ata p.L239I TRPC3_ENST00000513531.1_Missense_Mutation_p.L239I|TRPC3_ENST00000379645.3_Missense_Mutation_p.L312I NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 227 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity p.L239I(1) NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CTGAGCTCTAGGGCCGTAAGC 0.592000 7 30 2.17888e-05 2.38335e-05 0.058154 1 0 ANKRD20A4 728747 broad.mit.edu 37 9 69420407 69420407 + Silent SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr9:69420407C>T ENST00000357336.3 + 13 1578 c.1297C>T c.(1297-1299)Ctg>Ttg p.L433L NM_001098805.1 NP_001092275.1 Q4UJ75 A20A4_HUMAN ankyrin repeat domain 20 family, member A4 433 p.L433L(1) breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2) 16 TCCCAAGAAGCTGAAGGAAGA 0.353000 6 128 0 0 0.008291 0 0 RANBP2 5903 broad.mit.edu 37 2 109399221 109399221 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:109399221G>T ENST00000283195.6 + 28 9398 c.9272G>T c.(9271-9273)cGg>cTg p.R3091L NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 3091 PPIase cyclophilin-type. 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 p.R3091L(2) 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 ATTGTTCCTCGGACTGCTGAG 0.408000 69 219 4.37588e-27 6.97523e-27 0.048971 1 0 CSTF3 1479 broad.mit.edu 37 11 33112197 33112197 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:33112197G>T ENST00000323959.4 - 17 1661 c.1522C>A c.(1522-1524)Cgg>Agg p.R508R TCP11L1_ENST00000324357.9_Intron NM_001326.2 NP_001317.1 Q12996 CSTF3_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa 508 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm protein binding|RNA binding p.R508R(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1) 19 GCTGTAAACCGTCTTTTCTCC 0.358000 11 57 0.0135373 0.014144 0.013537 1 0 TMEM74B 55321 broad.mit.edu 37 20 1161882 1161882 + Silent SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr20:1161882G>A ENST00000381894.3 - 2 1052 c.381C>T c.(379-381)ctC>ctT p.L127L NM_018354.1 NP_060824.1 Q9NUR3 CT046_HUMAN transmembrane protein 74B 127 integral to membrane protein binding p.L127L(1) CCAGGAAAACGAGGGCGGAAA 0.612000 39 84 0 0 0.023175 0 0 PCDHB5 26167 broad.mit.edu 37 5 140517152 140517152 + Silent SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:140517152G>A ENST00000231134.5 + 1 2353 c.2136G>A c.(2134-2136)ctG>ctA p.L712L NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 712 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding p.L712L(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGTGCGGCTGTGCAGGAGGA 0.677000 48 188 0 0 0.048971 0 0 MYO7B 4648 broad.mit.edu 37 2 128389269 128389269 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:128389269G>T ENST00000389524.4 + 37 5168 c.5115G>T c.(5113-5115)ccG>ccT p.P1705P MYO7B_ENST00000428314.1_Silent_p.P1704P|MYO7B_ENST00000409816.2_Silent_p.P1704P|MYO7B_ENST00000409090.1_Silent_p.P557P Q6PIF6 MYO7B_HUMAN myosin VIIB 1704 MyTH4 2. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity p.P1948P(1)|p.P1704P(1) breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) TGCAGCACCCGGCCCTCCAGG 0.667000 5 32 5.9392e-07 6.77468e-07 0.021553 1 0 GPRC6A 222545 broad.mit.edu 37 6 117121759 117121759 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr6:117121759G>T ENST00000310357.3 - 4 1557 c.1536C>A c.(1534-1536)ttC>ttA p.F512L GPRC6A_ENST00000368549.3_Intron|GPRC6A_ENST00000530250.1_Missense_Mutation_p.F337L NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 512 response to amino acid stimulus G-protein coupled receptor activity p.F512L(1) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TAAGATTCCTGAACTCATTTT 0.428000 45 42 4.01344e-20 5.98805e-20 0.048971 1 0 NRXN2 9379 broad.mit.edu 37 11 64402833 64402833 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:64402833C>A ENST00000265459.6 - 18 3956 c.3495G>T c.(3493-3495)ctG>ctT p.L1165L NRXN2_ENST00000377551.1_Silent_p.L1165L|NRXN2_ENST00000377559.3_Silent_p.L1125L|NRXN2_ENST00000409571.1_Silent_p.L1158L|NRXN2_ENST00000301894.2_Silent_p.L119L NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1165 Laminin G-like 6. cell adhesion integral to membrane metal ion binding p.L119L(1)|p.L1165L(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 AGCCCACGGCCAGGCGATCCA 0.652000 18 49 4.35082e-09 5.30345e-09 0.055883 1 0 MTHFD2L 441024 broad.mit.edu 37 4 75065547 75065547 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:75065547C>T ENST00000395759.2 + 4 515 c.488C>T c.(487-489)gCc>gTc p.A163V MTHFD2L_ENST00000331145.6_Missense_Mutation_p.A105V|MTHFD2L_ENST00000433372.1_Missense_Mutation_p.A28V|MTHFD2L_ENST00000325278.6_Missense_Mutation_p.A105V NM_001144978.1 NP_001138450.1 Q9H903 MTD2L_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like 105 folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity p.A105V(1) central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2) 8 all cancers(17;0.0101)|Lung(101;0.196) AATGGAATTGCCCCAGAAAAA 0.343000 4 81 0 0 0.029380 0 0 GBA 2629 broad.mit.edu 37 1 155207330 155207330 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:155207330C>A ENST00000428024.2 - 6 1042 c.540G>T c.(538-540)tgG>tgT p.W180C GBA_ENST00000536770.1_Missense_Mutation_p.W154C|GBA_ENST00000427500.2_Missense_Mutation_p.W218C|GBA_ENST00000327247.5_Missense_Mutation_p.W267C|GBA_ENST00000368373.3_Missense_Mutation_p.W267C NM_001171811.1 NP_001165282.1 P04062 GLCM_HUMAN glucosidase, beta, acid 267 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding p.W267C(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 26 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) CTGTCACTGCCCAGAACTGTA 0.542000 Gaucher disease type I 7 44 5.16669e-11 6.53279e-11 0.010729 1 0 UBA2 10054 broad.mit.edu 37 19 34922808 34922808 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:34922808A>G ENST00000246548.4 + 3 335 c.265A>G c.(265-267)Atc>Gtc p.I89V UBA2_ENST00000439527.2_5'UTR NM_005499.2 NP_005490.1 Q9UBT2 SAE2_HUMAN ubiquitin-like modifier activating enzyme 2 89 protein sumoylation nucleus ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity p.I89V(1) breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 20 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) GAAAGCTAATATCGTTGCCTA 0.353000 66 195 0 0 0.048971 0 0 GUCA1C 9626 broad.mit.edu 37 3 108634993 108634993 + Missense_Mutation SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:108634993C>G ENST00000261047.3 - 3 555 c.423G>C c.(421-423)aaG>aaC p.K141N GUCA1C_ENST00000393963.3_Missense_Mutation_p.K141N|GUCA1C_ENST00000471108.1_Missense_Mutation_p.K141N NM_005459.3 NP_005450.3 O95843 GUC1C_HUMAN guanylate cyclase activator 1C 141 EF-hand 4. signal transduction|visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity p.K141N(1) endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1) 14 TTATATCGATCTTATGGAACA 0.413000 24 93 0 0 0.030593 0 0 PXDN 7837 broad.mit.edu 37 2 1667444 1667444 + Silent SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:1667444G>A ENST00000252804.4 - 12 1550 c.1500C>T c.(1498-1500)taC>taT p.Y500Y NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 500 Ig-like C2-type 3. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity p.Y500Y(1) breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CCTGGCATTCGTACTGGCCCT 0.602000 12 161 0 0 0.016723 0 0 CLCA2 9635 broad.mit.edu 37 1 86900337 86900337 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:86900337C>A ENST00000370565.4 + 6 1043 c.881C>A c.(880-882)aCt>aAt p.T294N NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 294 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity p.T294N(1) NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) ATGAATGGGACTGAGCTTCCA 0.498000 13 105 3.85864e-22 5.89866e-22 0.016522 1 0 INSM2 84684 broad.mit.edu 37 14 36004201 36004201 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:36004201C>A ENST00000307169.3 + 1 954 c.743C>A c.(742-744)gCg>gAg p.A248E NM_032594.3 NP_115983.3 Q96T92 INSM2_HUMAN insulinoma-associated 2 248 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A248E(1) endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 10 Breast(36;0.122)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452) GBM - Glioblastoma multiforme(112;0.0223) GAGCCCGGAGCGCCGTCCCGG 0.642000 15 36 1.96895e-08 2.33148e-08 0.016522 1 0 PRF1 5551 broad.mit.edu 37 10 72360447 72360447 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr10:72360447C>A ENST00000441259.1 - 2 372 c.212G>T c.(211-213)gGc>gTc p.G71V PRF1_ENST00000373209.2_Missense_Mutation_p.G71V NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 71 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity p.G71V(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 GGTGCAGGTGCCGTCGGGCCG 0.697000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 28 55 6.00712e-18 8.61791e-18 0.050027 1 0 SOX30 11063 broad.mit.edu 37 5 157078599 157078599 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:157078599G>A ENST00000265007.6 - 1 829 c.488C>T c.(487-489)tCc>tTc p.S163F SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.S163F NM_178424.1 NP_848511.1 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 163 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity p.S163F(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GACCACCCTGGAGGCTCTAGG 0.662000 42 63 0 0 0.048971 0 0 LRP1B 53353 broad.mit.edu 37 2 142004803 142004803 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:142004803G>A ENST00000389484.3 - 5 1555 c.584C>T c.(583-585)gCt>gTt p.A195V NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 195 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.A195V(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACCAATTTTAGCCTTGCAAGA 0.378000 TSP Lung(27;0.18) 15 50 0 0 0.028581 0 0 GPX3 2878 broad.mit.edu 37 5 150407000 150407000 + Missense_Mutation SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:150407000C>G ENST00000388825.4 + 4 459 c.367C>G c.(367-369)Cga>Gga p.R123G GPX3_ENST00000517973.1_Silent_p.S71S NM_002084.3 NP_002075.2 P22352 GPX3_HUMAN glutathione peroxidase 3 (plasma) 123 hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide extracellular space glutathione peroxidase activity|selenium binding|transcription factor binding p.R123G(1) kidney(1)|large_intestine(3)|lung(1)|skin(1) 6 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glutathione(DB00143) CAGGTATGTCCGACCAGGTGG 0.493000 38 111 0 0 0.036044 0 0 MYCBP2 23077 broad.mit.edu 37 13 77656020 77656020 + Missense_Mutation SNP T T G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr13:77656020T>G ENST00000407578.2 - 64 11411 c.11145A>C c.(11143-11145)gaA>gaC p.E3715D MYCBP2_ENST00000544440.2_Missense_Mutation_p.E3677D|MYCBP2-AS1_ENST00000422231.2_RNA|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E3677D|MYCBP2-AS1_ENST00000593933.1_RNA NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 3677 DOC. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding p.E3715D(1)|p.E3677D(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TAAAACTCTCTTCACTATCGC 0.373000 25 64 0 0 0.018920 0 0 RPL32P3 132241 broad.mit.edu 37 3 129116038 129116038 + RNA SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:129116038C>T ENST00000514355.1 - 0 412 lung(1) 1 GAGGCTTTCCCGCCCAGGGAC 0.567000 4 175 0 0 0.021553 0 0 AFF2 2334 broad.mit.edu 37 X 148037652 148037652 + Nonsense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chrX:148037652G>T ENST00000370460.2 + 11 2556 c.2077G>T c.(2077-2079)Gag>Tag p.E693* AFF2_ENST00000286437.5_Nonsense_Mutation_p.E334*|AFF2_ENST00000342251.3_Nonsense_Mutation_p.E660*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.E660* NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 693 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding p.E693*(2)|p.E334*(1) breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TTTGGCTCCCGAGAAGAAGAA 0.498000 68 63 1.74474e-33 2.90531e-33 0.048971 1 0 SOS2 6655 broad.mit.edu 37 14 50649236 50649236 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:50649236G>A ENST00000216373.5 - 6 1077 c.803C>T c.(802-804)aCt>aTt p.T268I SOS2_ENST00000543680.1_Missense_Mutation_p.T268I NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 268 DH. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity p.T268I(2) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) GCTTTCATCAGTCATTTCAAC 0.338000 14 40 0 0 0.028581 0 0 HNRNPA0 10949 broad.mit.edu 37 5 137089549 137089549 + Silent SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:137089549G>A ENST00000314940.4 - 1 490 c.207C>T c.(205-207)ccC>ccT p.P69P NM_006805.3 NP_006796.1 Q13151 ROA0_HUMAN heterogeneous nuclear ribonucleoprotein A0 69 RRM 1. nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|RNA binding p.P69P(1) large_intestine(1)|lung(2)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CCACGGCATGGGGCGAGGCGG 0.662000 25 79 0 0 0.024334 0 0 C1orf173 127254 broad.mit.edu 37 1 75037769 75037769 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:75037769G>T ENST00000326665.5 - 14 3843 c.3625C>A c.(3625-3627)Cgc>Agc p.R1209S C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1209 Glu-rich. p.R1209S(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CCATCTTGGCGGTGCCCTTCC 0.602000 68 126 9.4991e-31 1.56087e-30 0.048971 1 0 RASGRF2 5924 broad.mit.edu 37 5 80376481 80376481 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:80376481A>G ENST00000265080.4 + 7 1101 c.1034A>G c.(1033-1035)tAc>tGc p.Y345C RASGRF2_ENST00000502677.1_3'UTR NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 345 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity p.Y345C(1) biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) AATCACCAGTACAGCCTGCAA 0.428000 46 149 0 0 0.048971 0 0 NUP133 55746 broad.mit.edu 37 1 229588306 229588306 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:229588306G>A ENST00000261396.3 - 22 3156 c.3065C>T c.(3064-3066)gCg>gTg p.A1022V NUP133_ENST00000366679.1_Missense_Mutation_p.A951V|NUP133_ENST00000537506.1_Missense_Mutation_p.A1006V NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 1022 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding p.A1022V(1) NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) TACTGGCATCGCACTGAGATT 0.448000 15 60 0 0 0.049695 0 0 MKNK1 8569 broad.mit.edu 37 1 47030775 47030775 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:47030775C>T ENST00000371946.4 - 10 869 c.706G>A c.(706-708)Ggc>Agc p.G236S MKNK1_ENST00000371945.4_Missense_Mutation_p.G195S|MKNK1_ENST00000371944.4_Missense_Mutation_p.G100S|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000341183.5_Missense_Mutation_p.G195S|MKNK1_ENST00000428112.2_Missense_Mutation_p.G195S NM_003684.5 NP_003675.2 Q9BUB5 MKNK1_HUMAN MAP kinase interacting serine/threonine kinase 1 236 Protein kinase. intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.G236S(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 13 Acute lymphoblastic leukemia(166;0.155) ATCCCACTGCCCAAGTCAAAG 0.493000 42 220 0 0 0.048971 0 0 IRF9 10379 broad.mit.edu 37 14 24620512 24620512 + Missense_Mutation SNP C C G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr14:24620512C>G ENST00000558468.1 + 1 86 c.86C>G c.(85-87)gCc>gGc p.A29G RNF31_ENST00000382687.3_Missense_Mutation_p.A403G|RNF31_ENST00000559275.1_Missense_Mutation_p.A403G|RNF31_ENST00000324103.6_Missense_Mutation_p.A554G p.A554G(1) TGTCAGGAGGCCCGGAGAGCC 0.602000 22 63 0 0 0.016522 0 0 FAM92A1P2 403315 broad.mit.edu 37 4 183959141 183959141 + RNA SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:183959141G>A ENST00000502308.1 + 0 324 NR_003612.1 GAACTTTGCTGATGAGTTTGC 0.448000 5 12 0 0 0.014758 0 0 TRIM71 131405 broad.mit.edu 37 3 32860298 32860298 + Silent SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:32860298G>T ENST00000383763.4 + 1 789 c.726G>T c.(724-726)ccG>ccT p.P242P NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 242 multicellular organismal development cytoplasm zinc ion binding p.P242P(1) breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AGCGCGGCCCGCCGGGTCCCG 0.721000 14 25 1.56452e-12 2.01926e-12 0.043863 1 0 MYH13 8735 broad.mit.edu 37 17 10210316 10210316 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:10210316C>A ENST00000418404.3 - 35 5398 c.5235G>T c.(5233-5235)gtG>gtT p.V1745V MYH13_ENST00000570743.1_Silent_p.V1745V|MYH13_ENST00000252172.4_Silent_p.V1745V Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1745 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity p.V1745V(2) breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TCGAGTTCTCCACCTCTGCCT 0.493000 22 67 1.50039e-11 1.90356e-11 0.062417 1 0 POLR2A 5430 broad.mit.edu 37 17 7405883 7405883 + Silent SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:7405883G>A ENST00000322644.6 + 16 3018 c.2619G>A c.(2617-2619)gtG>gtA p.V873V NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 873 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding p.V873V(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) CAGTGATGGTGAAGTACGACG 0.587000 20 66 0 0 0.062417 0 0 OR2T12 127064 broad.mit.edu 37 1 248457981 248457981 + Missense_Mutation SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:248457981T>A ENST00000317996.1 - 1 899 c.900A>T c.(898-900)aaA>aaT p.K300N NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 300 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K300N(1) endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) CCAGCCACCGTTTCAGGGCTT 0.453000 17 220 0 0 0.049695 0 0 INHBA 3624 broad.mit.edu 37 7 41730009 41730009 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:41730009G>T ENST00000242208.4 - 3 766 c.520C>A c.(520-522)Cgc>Agc p.R174S AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.R174S|INHBA_ENST00000464515.1_5'UTR NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 174 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity p.R174S(1) biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 TGGAAGAGGCGGATGGTGACT 0.582000 TSP Lung(11;0.080) 38 101 1.48734e-19 2.20149e-19 0.045515 1 0 TXK 7294 broad.mit.edu 37 4 48106930 48106930 + Silent SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:48106930T>C ENST00000264316.4 - 6 574 c.489A>G c.(487-489)ctA>ctG p.L163L TXK_ENST00000510457.1_5'UTR NM_003328.2 NP_003319.2 P42681 TXK_HUMAN TXK tyrosine kinase 163 SH2. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity p.L163L(1) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2) 25 CTTGTCTCAATAGATGTTCTG 0.259000 10 45 0 0 0.020292 0 0 VN1R2 317701 broad.mit.edu 37 19 53762540 53762540 + Nonsense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:53762540C>A ENST00000341702.3 + 1 996 c.912C>A c.(910-912)taC>taA p.Y304* VN1R2_ENST00000598458.1_3'UTR NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 304 response to pheromone integral to membrane|plasma membrane pheromone receptor activity p.Y304*(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) ACAATCTCTACCCCAACTCTT 0.483000 60 162 6.60958e-23 1.01456e-22 0.048971 1 0 GRM2 2912 broad.mit.edu 37 3 51743114 51743114 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:51743114C>T ENST00000395052.3 + 2 349 c.115C>T c.(115-117)Cca>Tca p.P39S GRM2_ENST00000442933.2_Missense_Mutation_p.P39S|GRM2_ENST00000475478.1_Intron NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 39 synaptic transmission integral to plasma membrane p.P39S(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) TGGGCTGTTCCCAGTGCACCA 0.642000 24 59 0 0 0.016522 0 0 PRSS50 29122 broad.mit.edu 37 3 46758935 46758935 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:46758935G>T ENST00000460241.1 - 7 1969 c.299C>A c.(298-300)cCa>cAa p.P100Q PRSS50_ENST00000315170.7_Missense_Mutation_p.P100Q Q9UI38 TSP50_HUMAN protease, serine, 50 100 Peptidase S1. proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity p.P100Q(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 ACAGCGGTATGGGTCGACTTT 0.617000 28 74 4.74835e-14 6.34816e-14 0.045705 1 0 CLPB 81570 broad.mit.edu 37 11 72028186 72028186 + Missense_Mutation SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:72028186T>C ENST00000294053.3 - 8 1215 c.1042A>G c.(1042-1044)Att>Gtt p.I348V CLPB_ENST00000340729.5_Missense_Mutation_p.I289V|CLPB_ENST00000437826.2_Missense_Mutation_p.I303V|CLPB_ENST00000543042.1_Missense_Mutation_p.I147V|CLPB_ENST00000538039.1_Missense_Mutation_p.I318V NM_001258394.1|NM_030813.4 NP_001245323.1|NP_110440.1 Q9H078 CLPB_HUMAN ClpB caseinolytic peptidase B homolog (E. coli) 348 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding p.I348V(1) endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 TCCTGGCCAATGATGTGCTCC 0.612000 55 143 0 0 0.048971 0 0 YES1 7525 broad.mit.edu 37 18 724522 724522 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr18:724522C>A ENST00000584307.1 - 12 1704 c.1534G>T c.(1534-1536)Gac>Tac p.D512Y YES1_ENST00000577961.1_Missense_Mutation_p.D517Y|YES1_ENST00000314574.4_Missense_Mutation_p.D512Y P07947 YES_HUMAN v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 512 Protein kinase. blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation cytosol|plasma membrane ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity p.D512Y(1) endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Dasatinib(DB01254) TCATCAGGGTCCTTCTTCCAA 0.448000 21 60 1.96292e-10 2.4244e-10 0.055883 1 0 SNTG2 54221 broad.mit.edu 37 2 1271214 1271214 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:1271214G>T ENST00000308624.5 + 14 1284 c.1155G>T c.(1153-1155)agG>agT p.R385S SNTG2_ENST00000407292.1_Missense_Mutation_p.R258S NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 385 PH. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding p.R385S(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) AGGACCAGAGGCCCTATTGCT 0.517000 8 20 0.0477658 0.0493535 0.047766 1 0 FSTL5 56884 broad.mit.edu 37 4 162376242 162376242 + Silent SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:162376242C>A ENST00000306100.5 - 15 2191 c.1755G>T c.(1753-1755)acG>acT p.T585T FSTL5_ENST00000427802.2_Silent_p.T575T|FSTL5_ENST00000379164.4_Silent_p.T584T|FSTL5_ENST00000536695.1_Silent_p.T584T NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 585 extracellular region calcium ion binding p.T585T(1) central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) GGGTGTGGATCGTGTGGTGAG 0.433000 4 19 2.0095e-06 2.23744e-06 0.029380 1 0 IFI44L 10964 broad.mit.edu 37 1 79107250 79107250 + Missense_Mutation SNP G G C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:79107250G>C ENST00000370751.4 + 8 1459 c.1280G>C c.(1279-1281)cGg>cCg p.R427P IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_Missense_Mutation_p.R169P NM_006820.2 NP_006811.2 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 427 cytoplasm p.R388L(1)|p.R388P(1) endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 22 CAGATGCTGCGGGCTGCAGAT 0.438000 15 92 0 0 0.033300 0 0 OR2G3 81469 broad.mit.edu 37 1 247768887 247768887 + Translation_Start_Site SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:247768887G>A ENST00000320002.2 + 0 32 RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CCCCTGGAGGGATGGGATTGG 0.458000 20 57 0 0 0.062417 0 0 SOCS6 9306 broad.mit.edu 37 18 67993064 67993064 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr18:67993064G>A ENST00000397942.3 + 2 1476 c.1160G>A c.(1159-1161)gGa>gAa p.G387E SOCS6_ENST00000582322.1_Missense_Mutation_p.G387E NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 387 SH2. defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm p.G387E(1) NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) TGGTACTGGGGACCAATCACA 0.478000 27 80 0 0 0.027356 0 0 RIC3 79608 broad.mit.edu 37 11 8161742 8161742 + Splice_Site SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:8161742T>A ENST00000343202.4 - 2 190 c.e2-2 RIC3_ENST00000539720.1_Splice_Site|RIC3_ENST00000309737.6_Splice_Site|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000419822.2_Splice_Site|RIC3_ENST00000425599.2_Splice_Site NM_001206671.2|NM_024557.4 NP_001193600.1|NP_078833.3 Q7Z5B4 RIC3_HUMAN RIC3 acetylcholine receptor chaperone endoplasmic reticulum membrane|Golgi membrane|integral to membrane p.?(1) breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) CCAATTTTCCTGAGAAAATAA 0.428000 6 36 0 0 0.029380 0 0 F13B 2165 broad.mit.edu 37 1 197029605 197029605 + Missense_Mutation SNP T T A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:197029605T>A ENST00000367412.1 - 5 739 c.696A>T c.(694-696)gaA>gaT p.E232D NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 232 Sushi 4. blood coagulation extracellular region p.E232D(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 CATCTCCTTCTTCATAGGTTT 0.299000 3 32 0 0 0.004672 0 0 OR3A4P 390756 broad.mit.edu 37 17 3213643 3213643 + RNA SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:3213643C>A ENST00000573491.1 - 0 359 OR3A4P_ENST00000323164.4_RNA p.T13T(1) CAGTTGTGACCAAGTTTGTCC 0.537000 28 104 1.30897e-18 1.89243e-18 0.041601 1 0 LRRC8C 84230 broad.mit.edu 37 1 90179493 90179493 + Missense_Mutation SNP A A T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:90179493A>T ENST00000370454.4 + 3 1619 c.1364A>T c.(1363-1365)aAg>aTg p.K455M RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron NM_032270.4 NP_115646.2 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member C 455 endoplasmic reticulum membrane|integral to membrane p.K455M(1) breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) GAAATCATTAAGAACGTAATG 0.443000 36 100 0 0 0.054565 0 0 LHX8 431707 broad.mit.edu 37 1 75608973 75608973 + Missense_Mutation SNP G G A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:75608973G>A ENST00000294638.5 + 6 1224 c.560G>A c.(559-561)aGa>aAa p.R187K LHX8_ENST00000356261.3_Missense_Mutation_p.R177K NM_001001933.1 NP_001001933.1 Q68G74 LHX8_HUMAN LIM homeobox 8 187 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R187K(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 GTCCTCTGCAGAGTACATTAT 0.393000 9 39 0 0 0.008291 0 0 LSM11 134353 broad.mit.edu 37 5 157181018 157181018 + Missense_Mutation SNP A A G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr5:157181018A>G ENST00000286307.5 + 3 651 c.595A>G c.(595-597)Act>Gct p.T199A NM_173491.2 NP_775762.1 P83369 LSM11_HUMAN LSM11, U7 small nuclear RNA associated 199 SM 1. histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP protein binding|U7 snRNA binding p.T199A(1) breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 7 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTAGGCACTTACTGATGTGGA 0.403000 27 65 0 0 0.050027 0 0 VPS53 55275 broad.mit.edu 37 17 600722 600722 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:600722C>T ENST00000437048.2 - 4 367 c.221G>A c.(220-222)aGa>aAa p.R74K VPS53_ENST00000291074.5_Missense_Mutation_p.R74K|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000401468.3_Missense_Mutation_p.R74K|VPS53_ENST00000571805.1_Missense_Mutation_p.R74K NM_001128159.2 NP_001121631.1 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 homolog (S. cerevisiae) 74 protein transport endosome membrane|Golgi apparatus p.R74K(2) breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1) 19 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) GTCATCCAGTCTCCTAGCAAA 0.383000 44 111 0 0 0.048971 0 0 UBR4 23352 broad.mit.edu 37 1 19443790 19443790 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:19443790C>A ENST00000375267.2 - 73 10751 c.10748G>T c.(10747-10749)cGg>cTg p.R3583L UBR4_ENST00000375218.3_5'UTR|UBR4_ENST00000375254.3_Missense_Mutation_p.R3583L|UBR4_ENST00000375217.2_Missense_Mutation_p.R3576L|UBR4_ENST00000375226.2_Missense_Mutation_p.R3559L Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 3583 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding p.R3583L(1) breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CATCTTGGTCCGTTTCAGATC 0.507000 68 127 1.43987e-31 2.38698e-31 0.048971 1 0 KIF18A 81930 broad.mit.edu 37 11 28106288 28106288 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:28106288C>A ENST00000263181.6 - 7 1255 c.965G>T c.(964-966)gGa>gTa p.G322V NM_031217.3 NP_112494.3 Q8NI77 KI18A_HUMAN kinesin family member 18A 322 blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding p.G322V(1) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 TTGACAGTTTCCTCCAAGAGA 0.368000 16 63 3.45872e-05 3.7503e-05 0.028581 1 0 NAMPT 10135 broad.mit.edu 37 7 105903983 105903983 + Missense_Mutation SNP G G T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr7:105903983G>T ENST00000222553.3 - 7 1131 c.824C>A c.(823-825)tCt>tAt p.S275Y NAMPT_ENST00000354289.4_Missense_Mutation_p.S275Y NM_005746.2 NP_005737.1 P43490 NAMPT_HUMAN nicotinamide phosphoribosyltransferase 275 cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process cytosol cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity p.S275Y(1) endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 14 GCTGACCACAGATACAGGCAC 0.363000 19 79 1.2644e-06 1.4335e-06 0.055883 1 0 KIAA1211 57482 broad.mit.edu 37 4 57179457 57179457 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:57179457C>T ENST00000504228.1 + 5 554 c.449C>T c.(448-450)gCt>gTt p.A150V KIAA1211_ENST00000541073.1_Missense_Mutation_p.A143V|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A150V Q6ZU35 K1211_HUMAN KIAA1211 150 p.A150V(1) endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) CTGGCCATCGCTCGCCTGGAC 0.552000 63 158 0 0 0.048971 0 0 ZNF761 388561 broad.mit.edu 37 19 53952872 53952872 + RNA SNP T T C TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:53952872T>C ENST00000454407.1 + 0 576 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) TGGAGAATTATAGGAACCTGG 0.473000 19 40 0 0 0.016522 0 0 TGM4 7047 broad.mit.edu 37 3 44916184 44916184 + Missense_Mutation SNP C C T TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:44916184C>T ENST00000296125.4 + 1 82 c.14C>T c.(13-15)tCa>tTa p.S5L TGM4_ENST00000471637.1_3'UTR NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 5 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.S5L(1) NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) ATGGATGCATCAAAAGGTGAG 0.567000 14 53 0 0 0.016723 0 0 KIAA0907 22889 broad.mit.edu 37 1 155886422 155886423 + Frame_Shift_Del DEL CT CT - TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr1:155886422_155886423delCT ENST00000368320.3 - 12 1571_1572 c.1546_1547delAG c.(1546-1548)gfs p.R516fs KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs Q7Z7F0 K0907_HUMAN KIAA0907 516 p.R516fs*21(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TTACCTGTCCCTCTCTCTCTCT 0.396 8 393 --- --- --- --- NDUFAF7 55471 broad.mit.edu 37 2 37474741 37474742 + Frame_Shift_Ins INS - - A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:37474741_37474742insA ENST00000002125.4 + 9 1119_1120 c.1079_1080insA c.(1078-1080)taafs p.*360fs NDUFAF7_ENST00000336237.6_Frame_Shift_Ins_p.*262fs NM_144736.4 NP_653337.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 7 CACACATTTTTAAAAAATATGG 0.347 31 93 --- --- --- --- AC092835.2 0 broad.mit.edu 37 2 95880476 95880478 + RNA DEL TAC TAC - TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:95880476_95880478delTAC ENST00000425953.1 + 0 975_977 AGCCTTCAGTTACTACTCAGCTT 0.365 3 4 --- --- --- --- HDLBP 3069 broad.mit.edu 37 2 242194509 242194509 + Frame_Shift_Del DEL T T - TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr2:242194509delT ENST00000391975.1 - 9 1372 c.1145delA c.(1144-1146)agfs p.K383fs HDLBP_ENST00000427183.2_Frame_Shift_Del_p.K350fs|HDLBP_ENST00000391976.2_Frame_Shift_Del_p.K383fs|HDLBP_ENST00000310931.4_Frame_Shift_Del_p.K383fs NM_203346.3 NP_976221.1 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 383 KH 4. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) CTGCCCTTTCTTGCCAATGAT 0.478 147 382 --- --- --- --- RBM15B 29890 broad.mit.edu 37 3 51431352 51431353 + Frame_Shift_Ins INS - - G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr3:51431352_51431353insG ENST00000323686.4 + 1 2622_2623 c.2522_2523insG c.(2521-2523)gggfs p.G841fs NM_013286.4 NP_037418.3 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 841 Interaction with Epstein-Barr virus BMLF1.|SPOC. interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|large_intestine(5)|lung(3) 12 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGCTTGCCAGTGGGGGGGTCCA 0.609 24 64 --- --- --- --- PIGG 54872 broad.mit.edu 37 4 514917 514919 + In_Frame_Del DEL AGC AGC - TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:514917_514919delAGC ENST00000453061.2 + 7 1293_1295 c.1187_1189delAGC c.(1186-1191)aat>a p.KH396del PIGG_ENST00000296306.7_Intron|PIGG_ENST00000504346.1_In_Frame_Del_p.KH307del|PIGG_ENST00000509768.1_In_Frame_Del_p.KH307del|PIGG_ENST00000383028.4_In_Frame_Del_p.KH263del|PIGG_ENST00000536264.1_In_Frame_Del_p.KH274del|PIGG_ENST00000503111.1_Intron|PIGG_ENST00000310340.5_In_Frame_Del_p.KH396del NM_001127178.1 NP_001120650.1 Q5H8A4 PIGG_HUMAN phosphatidylinositol glycan anchor biosynthesis, class G 396 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane CP2 mannose-ethanolamine phosphotransferase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 39 TTGGAGGAAAAGCATTCAGAAGT 0.473 37 162 --- --- --- --- HAUS3 79441 broad.mit.edu 37 4 2242588 2242591 + Frame_Shift_Del DEL CAGT CAGT - TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:2242588_2242591delCAGT ENST00000243706.4 - 2 312_315 c.83_86delACTG c.(82-87)ggfs p.DW28fs HAUS3_ENST00000443786.2_Frame_Shift_Del_p.DW28fs|POLN_ENST00000511885.2_Intron|POLN_ENST00000515357.1_Intron|HAUS3_ENST00000506763.1_Frame_Shift_Del_p.DW28fs NM_024511.5 NP_078787.2 Q68CZ6 HAUS3_HUMAN HAUS augmin-like complex, subunit 3 28 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 CTCAAACAACCAGTCAAAGTCTTC 0.373 31 139 --- --- --- --- HERC3 8916 broad.mit.edu 37 4 89574037 89574038 + Frame_Shift_Ins INS - - G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:89574037_89574038insG ENST00000402738.1 + 6 720_721 c.481_482insG c.(481-483)gggfs p.G161fs HERC3_ENST00000264345.3_Frame_Shift_Ins_p.G161fs|HERC3_ENST00000407637.1_Frame_Shift_Ins_p.G161fs NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 161 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) GTTCTTCACCTGGGGAAAGAAC 0.495 12 51 --- --- --- --- SEC24B 10427 broad.mit.edu 37 4 110454835 110454836 + Frame_Shift_Ins INS - - A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:110454835_110454836insA ENST00000265175.5 + 22 3637_3638 c.3582_3583insA c.(3580-3585)caaaatfs p.N1195fs SEC24B_ENST00000504968.2_Frame_Shift_Ins_p.N1225fs|SEC24B_ENST00000399100.2_Frame_Shift_Ins_p.N1160fs NM_006323.2 NP_006314.2 O95487 SC24B_HUMAN SEC24 family member B 1195 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) CAATACCACAGAAAATGGTCAG 0.282 11 141 --- --- --- --- LOC728339 728339 broad.mit.edu 37 4 190818970 190818974 + RNA DEL AGGAA AGGAA - TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr4:190818970_190818974delAGGAA ENST00000511785.1 - 0 231 agggagagcgaggaaaggaaaggaa 0.483 4 3 --- --- --- --- SLC39A4 55630 broad.mit.edu 37 8 145637952 145637954 + In_Frame_Del DEL CAG CAG - TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr8:145637952_145637954delCAG ENST00000276833.5 - 11 2140_2142 c.1837_1839delCTG c.(1837-1839)del p.L613del SLC39A4_ENST00000301305.3_In_Frame_Del_p.L638del|SLC39A4_ENST00000531013.1_5'UTR NM_017767.2 NP_060237.2 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), member 4 638 cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) CGTACAGGGACAGCAGCAGCAGG 0.601 7 485 --- --- --- --- SIK2 23235 broad.mit.edu 37 11 111594606 111594606 + Frame_Shift_Del DEL C C - TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr11:111594606delC ENST00000304987.3 + 15 2707 c.2534delC c.(2533-2535)tcfs p.S845fs NM_015191.1 NP_056006.1 Q9H0K1 SIK2_HUMAN salt-inducible kinase 2 845 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 30 TTACAGTTCTCCTATCAGACT 0.642 12 35 --- --- --- --- ITGBL1 9358 broad.mit.edu 37 13 102105283 102105286 + Splice_Site DEL GTAA GTAA - TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr13:102105283_102105286delGTAA ENST00000376180.3 + 1 317 c.e1+1 ITGBL1_ENST00000545560.2_Splice_Site NM_001271756.1|NM_004791.1 NP_001258685.1|NP_004782.1 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat domains) cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3) 31 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CATCTCTGAGGTAAGTTTGGTTTG 0.520 27 88 --- --- --- --- IRS2 8660 broad.mit.edu 37 13 110435612 110435613 + Frame_Shift_Ins INS - - G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr13:110435612_110435613insG ENST00000375856.3 - 1 3302_3303 c.2788_2789insC c.(2788-2790)cctfs p.P930fs NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 930 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity p.R930fs*61(1) kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) CGGCGACAGGCGGGCCCCGGGC 0.738 3 5 --- --- --- --- DNM1P47 100216544 broad.mit.edu 37 15 102299886 102299887 + RNA INS - - G TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr15:102299886_102299887insG ENST00000561463.1 + 0 7932_7933 AACCTGTACTCGCGTCGGAACC 0.589 2 4 --- --- --- --- ITGA3 3675 broad.mit.edu 37 17 48148712 48148713 + Frame_Shift_Ins INS - - A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr17:48148712_48148713insA ENST00000320031.8 + 6 1119_1120 c.789_790insA c.(787-792)ccaaaafs p.PK263fs ITGA3_ENST00000007722.7_Frame_Shift_Ins_p.PK263fs|ITGA3_ENST00000544892.1_Frame_Shift_Ins_p.PK38fs NM_002204.2|NM_005501.2 NP_002195.1|NP_005492.1 P26006 ITA3_HUMAN integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) 263 blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 31 TCCTGCACCCCAAAAACATCAC 0.574 19 58 --- --- --- --- NR2C2AP 126382 broad.mit.edu 37 19 19313820 19313820 + Splice_Site DEL A A - TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b07397ae-592b-4eb4-98b3-7c7e81ecb5e0 87327c8c-1c44-418e-be9e-f19acb730fb5 g.chr19:19313820delA ENST00000590907.2 - 1 87 c.e1+1 NR2C2AP_ENST00000420605.2_Intron|NR2C2AP_ENST00000544883.1_Intron|NR2C2AP_ENST00000331552.6_Intron|NR2C2AP_ENST00000538165.2_Intron Q86WQ0 NR2CA_HUMAN nuclear receptor 2C2-associated protein cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm breast(1)|cervix(1)|kidney(2)|ovary(1) 5 Epithelial(12;0.00235) GCCTGTCCCCACAGACTCTTA 0.617 22 36 --- --- --- ---