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 DENND4C 55667 broad.mit.edu 37 9 19324474 19324474 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr9:19324474G>A ENST00000380432.2 + 9 1247 c.1214G>A c.(1213-1215)gGa>gAa p.G405E DENND4C_ENST00000434457.2_Missense_Mutation_p.G641E|DENND4C_ENST00000602925.1_Missense_Mutation_p.G641E Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 405 integral to membrane breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 AAAGATACTGGATTAGCATTT 0.303000 83 251 0 0 0.014410 0 0 HGF 3082 broad.mit.edu 37 7 81355231 81355231 + Silent SNP T T C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:81355231T>C ENST00000222390.5 - 9 1369 c.1143A>G c.(1141-1143)ccA>ccG p.P381P HGF_ENST00000457544.2_Silent_p.P376P NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 381 Kringle 3. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 TATCACAGTTTGGAATTTGGG 0.448000 14 79 0 0 0.002450 0 0 EPS8L1 54869 broad.mit.edu 37 19 55594761 55594761 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:55594761G>A ENST00000201647.6 + 13 1286 c.1230G>A c.(1228-1230)ccG>ccA p.P410P EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000586329.1_Silent_p.P392P|EPS8L1_ENST00000245618.5_Silent_p.P283P|EPS8L1_ENST00000588359.1_Silent_p.P64P|EPS8L1_ENST00000540810.1_Silent_p.P346P NM_133180.2 NP_573441.2 Q8TE68 ES8L1_HUMAN EPS8-like 1 410 cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) AGCTGTCCCCGGAGGAGGGAC 0.627000 35 32 0 0 0.006230 0 0 ULK1 8408 broad.mit.edu 37 12 132403850 132403850 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:132403850G>A ENST00000321867.4 + 24 2956 c.2605G>A c.(2605-2607)Gag>Aag p.E869K ULK1_ENST00000540647.1_Missense_Mutation_p.E114K NM_003565.2 NP_003556 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 869 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) CAGCGCCAGTGAGGCGGCGGG 0.682000 14 33 0 0 0.003163 0 0 OLA1 29789 broad.mit.edu 37 2 175006600 175006600 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:175006600C>G ENST00000284719.3 - 5 748 c.502G>C c.(502-504)Gaa>Caa p.E168Q OLA1_ENST00000409546.1_Missense_Mutation_p.E188Q|OLA1_ENST00000428402.2_Missense_Mutation_p.E168Q|OLA1_ENST00000344357.5_Missense_Mutation_p.E10Q NM_013341.3 NP_037473.3 Q9NTK5 OLA1_HUMAN Obg-like ATPase 1 168 E -> Q (in a breast cancer sample; somatic mutation). ATP catabolic process cytoplasm ATP binding|GTP binding|hydrolase activity|protein binding p.E168Q(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 11 GCCACCTTTTCTAGTTTATCT 0.328000 18 48 0 0 0.010504 0 0 CCT5 22948 broad.mit.edu 37 5 10254942 10254942 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:10254942G>A ENST00000280326.4 + 3 743 c.323G>A c.(322-324)gGa>gAa p.G108E CCT5_ENST00000506600.1_Intron|CCT5_ENST00000515390.1_Intron|CCT5_ENST00000515676.1_Missense_Mutation_p.G70E|CCT5_ENST00000503026.1_Missense_Mutation_p.G87E NM_012073.3 NP_036205.1 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 108 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2) 26 GGAACCACAGGAGTGGTTGGT 0.433000 31 29 0 0 0.010818 0 0 SUV39H2 79723 broad.mit.edu 37 10 14939477 14939477 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:14939477G>A ENST00000313519.5 + 2 861 c.630G>A c.(628-630)aaG>aaA p.K210K DCLRE1C_ENST00000378289.4_3'UTR|SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000354919.6_Silent_p.K270K NM_001193425.1|NM_024670.3 NP_001180354.1|NP_078946.1 Q9H5I1 SUV92_HUMAN suppressor of variegation 3-9 homolog 2 (Drosophila) 270 Pre-SET. cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin|chromosome, centromeric region|nucleus histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1) 19 CCCTTGTGAAGATTAAAAGAA 0.388000 12 37 0 0 0.001855 0 0 SACM1L 22908 broad.mit.edu 37 3 45773624 45773624 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:45773624G>C ENST00000389061.5 + 13 1285 c.1081G>C c.(1081-1083)Gaa>Caa p.E361Q SACM1L_ENST00000418611.1_Missense_Mutation_p.E258Q|SACM1L_ENST00000541314.1_Missense_Mutation_p.E300Q NM_014016.3 NP_054735.3 Q9NTJ5 SAC1_HUMAN SAC1 suppressor of actin mutations 1-like (yeast) 361 SAC. Golgi apparatus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) TCAGGTAGCAGAAATGCAAGA 0.333000 29 63 0 0 0.006320 0 0 RTDR1 27156 broad.mit.edu 37 22 23404081 23404081 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr22:23404081G>A ENST00000216036.4 - 6 892 c.696C>T c.(694-696)gtC>gtT p.V232V NM_014433.2 NP_055248.1 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region gene 1 232 binding breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 18 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) GGATGGGGATGACGTCAAAAT 0.562000 40 29 0 0 0.007835 0 0 TAB3 257397 broad.mit.edu 37 X 30873150 30873150 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chrX:30873150C>G ENST00000378933.1 - 3 809 c.632G>C c.(631-633)aGa>aCa p.R211T TAB3_ENST00000288422.2_Missense_Mutation_p.R211T|TAB3_ENST00000378932.2_Missense_Mutation_p.R211T|TAB3_ENST00000378930.3_Missense_Mutation_p.R211T NM_152787.3 NP_690000.2 Q8N5C8 TAB3_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 3 211 Pro-rich. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB 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|endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1) 27 TTGTAAAGCTCTTGGTACAGT 0.423000 18 13 0 0 0.006122 0 0 MED1 5469 broad.mit.edu 37 17 37564821 37564821 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:37564821G>C ENST00000300651.6 - 17 3876 c.3653C>G c.(3652-3654)tCc>tGc p.S1218C MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 1218 Ser-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) GGCTTTAGAGGATGGAGGAGT 0.478000 HNSCC(31;0.082) 38 30 0 0 0.005524 0 0 TRPV2 51393 broad.mit.edu 37 17 16327060 16327060 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:16327060C>T ENST00000338560.7 + 5 1302 c.903C>T c.(901-903)gcC>gcT p.A301A TRPV2_ENST00000577397.1_Intron NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 301 Required for interaction with SLC50A1 (By similarity). sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TGAAGCTGGCCGCCAAGGAGG 0.597000 16 17 0 0 0.004990 0 0 YTHDF2 51441 broad.mit.edu 37 1 29069930 29069930 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:29069930C>T ENST00000373812.3 + 4 1510 c.1148C>T c.(1147-1149)tCa>tTa p.S383L YTHDF2_ENST00000542507.1_Missense_Mutation_p.S383L|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Missense_Mutation_p.S333L NM_016258.2 NP_057342.2 Q9Y5A9 YTHD2_HUMAN YTH domain family, member 2 383 humoral immune response NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) TCTACTCCTTCAGAACCCCAC 0.498000 22 73 0 0 0.012319 0 0 RNF34 80196 broad.mit.edu 37 12 121867872 121867872 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:121867872G>C ENST00000392464.2 + 7 1168 c.1099G>C c.(1099-1101)Gaa>Caa p.E367Q KDM2B_ENST00000542973.1_3'UTR|KDM2B_ENST00000377069.4_3'UTR|KDM2B_ENST00000536437.1_3'UTR|KDM2B_ENST00000377071.4_3'UTR Q969K3 RNF34_HUMAN ring finger protein 34, E3 ubiquitin protein ligase 21 apoptosis endomembrane system|membrane|nuclear speck ligase activity|zinc ion binding breast(1)|large_intestine(1) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233) AAATGGTCCAGAAAGCAGTGC 0.483000 12 59 0 0 0.001855 0 0 C11orf49 79096 broad.mit.edu 37 11 47183188 47183188 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:47183188G>A ENST00000378615.3 + 9 1041 c.1013G>A c.(1012-1014)tGa>tAa p.*338* C11orf49_ENST00000395460.2_3'UTR|C11orf49_ENST00000536126.1_Silent_p.*235*|C11orf49_ENST00000543718.1_Silent_p.*248*|C11orf49_ENST00000378618.2_Intron|C11orf49_ENST00000278460.7_Silent_p.*332* Q9H6J7 CK049_HUMAN chromosome 11 open reading frame 49 0 central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1) 11 TCGGAGACTTGAGGAGTCCAA 0.622000 OREG0020950 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 10 0 0 0.007291 0 0 DENND2A 27147 broad.mit.edu 37 7 140301532 140301532 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:140301532C>T ENST00000275884.6 - 2 1083 c.666G>A c.(664-666)ctG>ctA p.L222L DENND2A_ENST00000492720.1_Silent_p.L222L|DENND2A_ENST00000537639.1_Silent_p.L222L|DENND2A_ENST00000496613.1_Silent_p.L222L Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 222 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) CCCTGCCTTCCAGGTCCGAGG 0.637000 50 130 0 0 0.014410 0 0 ZNF358 140467 broad.mit.edu 37 19 7585298 7585298 + Silent SNP C C A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:7585298C>A ENST00000597229.1 + 2 1340 c.1170C>A c.(1168-1170)ctC>ctA p.L390L ZNF358_ENST00000394341.2_Silent_p.L390L|CTD-2207O23.11_ENST00000602083.1_RNA NM_018083.4 NP_060553.4 Q9NW07 ZN358_HUMAN zinc finger protein 358 390 embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2) 8 CCTCCAGCCTCACCAAGCACA 0.716000 32 33 5.6714e-07 5.96756e-07 0.010818 1 0 ELMO2 63916 broad.mit.edu 37 20 45002118 45002118 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:45002118C>G ENST00000372176.1 - 16 1540 c.1072G>C c.(1072-1074)Gaa>Caa p.E358Q ELMO2_ENST00000396391.1_Missense_Mutation_p.E446Q|ELMO2_ENST00000352077.2_Missense_Mutation_p.E444Q|ELMO2_ENST00000445496.2_Missense_Mutation_p.E263Q|ELMO2_ENST00000439931.2_Missense_Mutation_p.E458Q|ELMO2_ENST00000290246.6_Missense_Mutation_p.E446Q|ELMO2_ENST00000454865.2_Missense_Mutation_p.E178Q Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 446 ELMO. apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1) 16 Myeloproliferative disorder(115;0.0122) AAGAGCTCTTCAAAGGCTCGG 0.502000 39 51 0 0 0.004289 0 0 POLR3A 11128 broad.mit.edu 37 10 79741314 79741314 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:79741314C>T ENST00000372371.3 - 29 3900 c.3763G>A c.(3763-3765)Gag>Aag p.E1255K NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 1255 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) AGAGTTTTCTCCACCTACAGA 0.542000 127 162 0 0 0.014410 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140774463 140774463 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:140774463G>A ENST00000398604.2 + 1 2083 c.2083G>A c.(2083-2085)Gtg>Atg p.V695M PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTATCTCGTGGTGGCAGTGGC 0.607000 7 22 0 0 0.006214 0 0 CCZ1B 221960 broad.mit.edu 37 7 6840699 6840699 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:6840699C>T ENST00000316731.8 - 14 1845 c.1273G>A c.(1273-1275)Gaa>Aaa p.E425K CCZ1B_ENST00000538180.1_Missense_Mutation_p.E282K NM_198097.3 NP_932765.1 P86790 CCZ1L_HUMAN CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae) 425 lysosomal membrane TCCTCATCTTCATCCACTCTG 0.438000 20 82 0 0 0.004878 0 0 ACACB 32 broad.mit.edu 37 12 109697942 109697942 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:109697942G>A ENST00000543201.1 + 20 2568 c.2567G>A c.(2566-2568)gGa>gAa p.G856E ACACB_ENST00000377854.5_Intron|ACACB_ENST00000338432.7_Intron|ACACB_ENST00000377848.3_Intron O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 0 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) ATTGGGGAAGGATCAGTGTGA 0.488000 44 245 0 0 0.014410 0 0 MAST4 375449 broad.mit.edu 37 5 66449324 66449324 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:66449324G>A ENST00000404260.3 + 26 3881 c.3573G>A c.(3571-3573)ctG>ctA p.L1191L MAST4_ENST00000261569.7_Silent_p.L994L|MAST4_ENST00000403666.1_Silent_p.L999L|MAST4_ENST00000405643.1_Silent_p.L1009L|MAST4_ENST00000403625.2_Silent_p.L1188L O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1191 PDZ. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) AGGCAGGACTGAAGGCTGGAG 0.428000 5 8 0 0 0.001168 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). 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 Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 34 137 0 0 0.013726 0 0 TBX2 6909 broad.mit.edu 37 17 59482604 59482604 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:59482604G>C ENST00000240328.3 + 6 1374 c.1093G>C c.(1093-1095)Gag>Cag p.E365Q RP11-332H18.4_ENST00000592009.1_RNA NM_005994.3 NP_005985.3 Q13207 TBX2_HUMAN T-box 2 365 cell aging|positive regulation of cell proliferation sequence-specific DNA binding endometrium(1)|lung(7)|ovary(1) 9 CCCGGAGCCTGAGCGGTTGAG 0.741000 5 9 0 0 0.000602 0 0 NOTCH2NL 388677 broad.mit.edu 37 1 145282020 145282020 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:145282020G>A ENST00000369340.3 + 6 1144 c.700G>A c.(700-702)Gat>Aat p.D234N RP11-458D21.5_ENST00000468030.1_Intron|NOTCH2NL_ENST00000344859.3_Intron|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.D234N Q7Z3S9 NT2NL_HUMAN notch 2 N-terminal like 234 cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 27 AAAAGAACACGATGAGAATTA 0.378000 10 71 0 0 0.010729 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8654126 8654126 + Splice_Site SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:8654126C>T ENST00000270328.4 - 17 2424 c.2158G>A c.(2158-2160)Ggg>Agg p.G720R ADAMTS10_ENST00000597188.1_Splice_Site_p.G720R|ADAMTS10_ENST00000595838.1_Splice_Site_p.G207R Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 720 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 AGACTCTCACCGGCCCCAGGT 0.637000 40 38 0 0 0.011902 0 0 PFKFB3 5209 broad.mit.edu 37 10 6258137 6258137 + Nonsense_Mutation SNP G G T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:6258137G>T ENST00000379775.4 + 4 679 c.349G>T c.(349-351)Gaa>Taa p.E117* PFKFB3_ENST00000540253.1_Nonsense_Mutation_p.E131*|PFKFB3_ENST00000379789.4_Nonsense_Mutation_p.E97*|PFKFB3_ENST00000536985.1_Nonsense_Mutation_p.E97*|PFKFB3_ENST00000317350.4_Nonsense_Mutation_p.E117*|PFKFB3_ENST00000379785.1_Nonsense_Mutation_p.E117*|PFKFB3_ENST00000360521.2_Nonsense_Mutation_p.E117*|PFKFB3_ENST00000379782.3_Nonsense_Mutation_p.E117* NM_004566.3 NP_004557.1 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 117 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1) 22 CCTGGCGAAAGAAGGGGGACA 0.587000 41 51 8.20599e-20 8.93787e-20 0.011902 1 0 SPATA31D5P 347127 broad.mit.edu 37 9 84531740 84531740 + RNA SNP C C G rs140190632 by1000genomes TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr9:84531740C>G ENST00000527857.1 + 0 1762 NR_026851.1 GGTCAGTCCCCACATCTCACT 0.522000 24 15 0 0 0.002780 0 0 NMT2 9397 broad.mit.edu 37 10 15174885 15174885 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:15174885C>G ENST00000378165.4 - 6 730 c.650G>C c.(649-651)aGa>aCa p.R217T NMT2_ENST00000535341.1_Missense_Mutation_p.R204T|NMT2_ENST00000378150.1_Missense_Mutation_p.R204T|NMT2_ENST00000540259.1_Missense_Mutation_p.R29T|RPP38_ENST00000451677.1_Intron NM_004808.2 NP_004799.1 O60551 NMT2_HUMAN N-myristoyltransferase 2 217 N-terminal protein myristoylation|protein lipoylation Golgi apparatus|plasma membrane glycylpeptide N-tetradecanoyltransferase activity breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3) 21 TGAAGACACTCTGACCCCACA 0.493000 16 55 0 0 0.003163 0 0 PC 5091 broad.mit.edu 37 11 66618514 66618514 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:66618514G>C ENST00000393960.1 - 17 2501 c.2220C>G c.(2218-2220)atC>atG p.I740M PC_ENST00000393958.2_Missense_Mutation_p.I740M|PC_ENST00000393955.2_Missense_Mutation_p.I740M NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 740 Carboxyltransferase. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CAGGCACCTTGATGCACAGGA 0.647000 37 12 0 0 0.003755 0 0 TIMD4 91937 broad.mit.edu 37 5 156381553 156381553 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:156381553C>T ENST00000274532.2 - 2 329 c.273G>A c.(271-273)ccG>ccA p.P91P TIMD4_ENST00000407087.3_Silent_p.P91P NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 91 Ig-like V-type. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CATCACCTCTCGGGATAGTCC 0.517000 20 39 0 0 0.008871 0 0 MROH2B 133558 broad.mit.edu 37 5 41057463 41057463 + Splice_Site SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:41057463C>G ENST00000399564.4 - 8 1207 c.e8-1 MROH2B_ENST00000506092.2_Intron NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GTTTTAGGCTCTAAAGTGGAA 0.433000 5 1 0 0 0.000602 0 0 LRTM2 654429 broad.mit.edu 37 12 1940449 1940449 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:1940449C>T ENST00000543818.1 + 4 1258 c.416C>T c.(415-417)tCg>tTg p.S139L LRTM2_ENST00000543730.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.S139L|LRTM2_ENST00000535041.1_Missense_Mutation_p.S139L|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585732.1_Intron NM_001039029.2|NM_001163925.1|NM_001163926.1 NP_001034118.1|NP_001157397.1|NP_001157398.1 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 139 integral to membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) CTGCGGCACTCGCCGCTGCTC 0.652000 20 58 0 0 0.010504 0 0 CDH6 1004 broad.mit.edu 37 5 31317518 31317518 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:31317518C>G ENST00000265071.2 + 10 1814 c.1549C>G c.(1549-1551)Cct>Gct p.P517A CDH6_ENST00000514738.1_Missense_Mutation_p.P462A NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 517 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding 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 CAAGGATGACCCTTATAGTGG 0.398000 4 110 0 0 0.009096 0 0 FLRT3 23767 broad.mit.edu 37 20 14307164 14307164 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:14307164C>T ENST00000378053.3 - 2 1245 c.989G>A c.(988-990)cGt>cAt p.R330H FLRT3_ENST00000341420.4_Missense_Mutation_p.R330H|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 330 LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) CATGAGCCCACGCACGTTGAC 0.473000 40 124 0 0 0.007835 0 0 NBPF1 55672 broad.mit.edu 37 1 16891403 16891403 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:16891403C>G ENST00000430580.2 - 28 3962 c.3075G>C c.(3073-3075)aaG>aaC p.K1025N NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 1025 NBPF 6. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) ccttccccttcttTTCAATTT 0.443000 5 655 0 0 0.002450 0 0 SYNC 81493 broad.mit.edu 37 1 33149906 33149906 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:33149906C>G ENST00000373484.3 - 3 1410 c.1311G>C c.(1309-1311)gaG>gaC p.E437D SYNC_ENST00000409190.3_Missense_Mutation_p.E437D|RBBP4_ENST00000373493.5_3'UTR NM_001161708.1 NP_001155180 Q9H7C4 SYNCI_HUMAN syncoilin, intermediate filament protein 437 Coil 2. intermediate filament|perinuclear region of cytoplasm structural molecule activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 GCTGTTCCATCTCTTTGTTCT 0.463000 59 152 0 0 0.014410 0 0 HMCN1 83872 broad.mit.edu 37 1 186007984 186007984 + Missense_Mutation SNP C C T rs149920975 TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:186007984C>T ENST00000271588.4 + 38 6104 c.5875C>T c.(5875-5877)Cgt>Tgt p.R1959C HMCN1_ENST00000367492.2_Missense_Mutation_p.R1959C NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1959 Ig-like C2-type 17. R -> C (in Ref. 1). response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CAAAGATAATCGTCTACTCTC 0.348000 13 96 0 0 0.004007 0 0 FLG 2312 broad.mit.edu 37 1 152281835 152281835 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:152281835G>C ENST00000368799.1 - 3 5562 c.5527C>G c.(5527-5529)Cac>Gac p.H1843D FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1843 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGTGGCTGTGATGAGACCCT 0.532000 Ichthyosis 200 227 0 0 0.014410 0 0 ZNF407 55628 broad.mit.edu 37 18 72347227 72347227 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr18:72347227G>C ENST00000299687.5 + 1 4252 c.4252G>C c.(4252-4254)Gat>Cat p.D1418H ZNF407_ENST00000577538.1_Missense_Mutation_p.D1418H|ZNF407_ENST00000309902.6_Missense_Mutation_p.D1418H|ZNF407_ENST00000582337.1_Missense_Mutation_p.D1418H NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 1418 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) TCGCTGTGATGATTGTGGCTT 0.438000 9 31 0 0 0.004482 0 0 DOCK1 1793 broad.mit.edu 37 10 129224163 129224163 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:129224163G>A ENST00000280333.6 + 47 4848 c.4739G>A c.(4738-4740)aGa>aAa p.R1580K NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1580 DHR-2. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) GAAGGGATCAGAATCCATGGA 0.493000 39 191 0 0 0.005524 0 0 BNIP3 664 broad.mit.edu 37 10 133786615 133786615 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:133786615G>A ENST00000540159.1 - 3 321 c.205C>T c.(205-207)Cgc>Tgc p.R69C BNIP3_ENST00000368636.4_Missense_Mutation_p.R69C Q12983 BNIP3_HUMAN BCL2/adenovirus E1B 19kDa interacting protein 3 69 cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm GTPase binding|protein heterodimerization activity|protein homodimerization activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1) 7 all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203) Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) GTCTGCGAGCGAGGTGGGCTT 0.468000 39 118 0 0 0.006999 0 0 OR52B4 143496 broad.mit.edu 37 11 4388815 4388815 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:4388815G>C ENST00000408920.2 - 1 801 c.711C>G c.(709-711)caC>caG p.H237Q NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) TGAGAGCTTTGTGGCAAGCAT 0.443000 8 81 0 0 0.003080 0 0 MALSU1 115416 broad.mit.edu 37 7 23347497 23347497 + Missense_Mutation SNP T T C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:23347497T>C ENST00000466681.1 + 3 599 c.446T>C c.(445-447)cTg>cCg p.L149P NM_138446.1 NP_612455.1 Q96EH3 CG030_HUMAN mitochondrial assembly of ribosomal large subunit 1 149 mitochondrion TACAAACACCTGAAATGTAAA 0.418000 3 79 0 0 0.004672 0 0 TG 7038 broad.mit.edu 37 8 134145801 134145801 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr8:134145801G>C ENST00000220616.4 + 47 8125 c.8085G>C c.(8083-8085)gaG>gaC p.E2695D TG_ENST00000377869.1_Missense_Mutation_p.E2638D|TG_ENST00000519543.1_Missense_Mutation_p.E828D|TG_ENST00000542445.1_Missense_Mutation_p.E1065D NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2695 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CTGGTGGAGAGAACTACAAGG 0.522000 37 54 0 0 0.003755 0 0 CNOT6 57472 broad.mit.edu 37 5 180000991 180000991 + Missense_Mutation SNP A A C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:180000991A>C ENST00000393356.1 + 14 1889 c.1465A>C c.(1465-1467)Ata>Cta p.I489L CNOT6_ENST00000261951.4_Missense_Mutation_p.I489L Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 489 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus exonuclease activity|metal ion binding|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) TTTTCAGGGTATAATAGACTA 0.418000 15 33 0 0 0.003163 0 0 IMMT 10989 broad.mit.edu 37 2 86389141 86389141 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:86389141C>T ENST00000410111.3 - 8 1241 c.854G>A c.(853-855)aGa>aAa p.R285K IMMT_ENST00000409051.2_Missense_Mutation_p.R238K|IMMT_ENST00000490238.1_5'UTR|IMMT_ENST00000449247.2_Missense_Mutation_p.R274K|IMMT_ENST00000254636.5_Missense_Mutation_p.R186K|IMMT_ENST00000442664.2_Missense_Mutation_p.R284K NM_001100169.1|NM_001100170.1|NM_006839.2 NP_001093639.1|NP_001093640.1|NP_006830.2 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial 285 integral to mitochondrial inner membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TACTGCCTTTCTGCGTTCCTT 0.428000 12 9 0 0 0.003163 0 0 MST1 4485 broad.mit.edu 37 3 49722087 49722087 + Missense_Mutation SNP G G T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:49722087G>T ENST00000449682.2 - 16 2133 c.1772C>A c.(1771-1773)tCt>tAt p.S591Y AC099668.5_ENST00000563780.1_RNA NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 577 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CAGGGTCACAGATCTTTAGCA 0.602000 15 53 2.32078e-09 2.46775e-09 0.003163 1 0 ADAMTS5 11096 broad.mit.edu 37 21 28296403 28296403 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr21:28296403G>C ENST00000284987.5 - 8 2883 c.2762C>G c.(2761-2763)gCg>gGg p.A921G AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 921 TSP type-1 2. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding 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 TTGCTTAAACGCAGAAGGCCT 0.483000 15 51 0 0 0.004007 0 0 CGGBP1 8545 broad.mit.edu 37 3 88104763 88104763 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:88104763C>T ENST00000398392.2 - 1 1696 c.364G>A c.(364-366)Gat>Aat p.D122N CGGBP1_ENST00000482016.1_Missense_Mutation_p.D122N|CGGBP1_ENST00000462901.1_Missense_Mutation_p.D122N|CGGBP1_ENST00000309534.6_Missense_Mutation_p.D122N Q9UFW8 CGBP1_HUMAN CGG triplet repeat binding protein 1 122 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding kidney(1)|large_intestine(2)|lung(2) 5 Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677) GCTGGGTGATCAGCCTTCTCA 0.488000 22 54 0 0 0.010504 0 0 KIAA1524 57650 broad.mit.edu 37 3 108271090 108271090 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:108271090C>G ENST00000295746.8 - 20 2614 c.2538G>C c.(2536-2538)ttG>ttC p.L846F KIAA1524_ENST00000491772.1_Missense_Mutation_p.L687F NM_020890.2 NP_065941.2 Q8TCG1 CIP2A_HUMAN KIAA1524 846 cytoplasm|integral to membrane protein binding p.L846F(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CCTTAATGCTCAACTCTTTTC 0.313000 12 26 0 0 0.013537 0 0 TMX4 56255 broad.mit.edu 37 20 7963265 7963265 + Missense_Mutation SNP T T A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:7963265T>A ENST00000246024.2 - 8 898 c.683A>T c.(682-684)cAg>cTg p.Q228L NM_021156.2 NP_066979.2 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 228 Glu-rich. cell redox homeostasis|electron transport chain|transport integral to membrane endometrium(3)|large_intestine(2)|lung(11)|skin(1) 17 TCTCCGATTCTGCTCTATGGA 0.398000 27 57 0 0 0.006320 0 0 RP9 6100 broad.mit.edu 37 7 33136118 33136118 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:33136118C>G ENST00000297157.3 - 5 471 c.454G>C c.(454-456)Gaa>Caa p.E152Q NM_203288.1 NP_976033.1 Q8TA86 RP9_HUMAN retinitis pigmentosa 9 (autosomal dominant) 152 PIM1-binding (By similarity). RNA splicing nucleus nucleic acid binding|protein binding|zinc ion binding large_intestine(3)|lung(3)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(11;0.0403) ACGTCCTTTTCATGTCGTTTA 0.383000 11 41 0 0 0.013537 0 0 PTN 5764 broad.mit.edu 37 7 136935980 136935980 + Nonsense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:136935980G>A ENST00000348225.2 - 4 875 c.448C>T c.(448-450)Caa>Taa p.Q150* PTN_ENST00000393083.2_Nonsense_Mutation_p.Q150* NM_002825.5 NP_002816.1 P21246 PTN_HUMAN pleiotrophin 150 nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway endoplasmic reticulum|extracellular space growth factor activity|heparin binding|protein phosphatase inhibitor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 23 GACTTACCTTGAGGTTTGGGC 0.458000 45 125 0 0 0.014410 0 0 SH3GL1 6455 broad.mit.edu 37 19 4363857 4363857 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:4363857C>T ENST00000269886.3 - 6 662 c.484G>A c.(484-486)Gag>Aag p.E162K SH3GL1_ENST00000598564.1_Missense_Mutation_p.E98K|SH3GL1_ENST00000417295.2_Missense_Mutation_p.E114K|AC007292.6_ENST00000594444.1_RNA NM_003025.3 NP_003016.1 Q99961 SH3G1_HUMAN SH3-domain GRB2-like 1 162 BAR. central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) CGGCGGCCCTCCAGTTTCTTC 0.627000 T MLL AL 32 26 0 0 0.003271 0 0 TNNI1 7135 broad.mit.edu 37 1 201380568 201380568 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:201380568G>A ENST00000361379.4 - 7 465 c.373C>T c.(373-375)Cgg>Tgg p.R125W TNNI1_ENST00000336092.4_Missense_Mutation_p.R125W|TNNI1_ENST00000555948.1_Intron|TNNI1_ENST00000367312.1_Missense_Mutation_p.R125W NM_003281.3 NP_003272.3 P19237 TNNI1_HUMAN troponin I type 1 (skeletal, slow) 125 muscle filament sliding|regulation of striated muscle contraction cytosol|troponin complex actin binding|tropomyosin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 8 AGCAGGGCCCGGAGCATGGCG 0.597000 17 20 0 0 0.004007 0 0 QARS 5859 broad.mit.edu 37 3 49142171 49142171 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:49142171G>A ENST00000420147.2 - 1 382 c.50C>T c.(49-51)tCt>tTt p.S17F QARS_ENST00000306125.6_5'UTR|QARS_ENST00000414533.1_5'UTR P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 0 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) CGCCATTGCAGAGACACCGGA 0.602000 11 31 0 0 0.013537 0 0 HCN3 57657 broad.mit.edu 37 1 155257083 155257083 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:155257083C>T ENST00000368358.3 + 7 1605 c.1597C>T c.(1597-1599)Cgc>Tgc p.R533C HCN3_ENST00000496230.1_3'UTR NM_020897.2 NP_065948.1 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 3 533 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 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) CCCCATGATGCGCCGGGCCTT 0.617000 18 63 0 0 0.012319 0 0 HIST1H1C 3006 broad.mit.edu 37 6 26056393 26056393 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:26056393C>T ENST00000343677.2 - 1 306 c.264G>A c.(262-264)gtG>gtA p.V88V NM_005319.3 NP_005310.1 P16403 H12_HUMAN histone cluster 1, H1c 88 H15. nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 34 TGCCCTTGCTCACCAGGCTCT 0.532000 34 129 0 0 0.013726 0 0 UBN1 29855 broad.mit.edu 37 16 4908646 4908646 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr16:4908646C>T ENST00000396658.4 + 3 1117 c.414C>T c.(412-414)ttC>ttT p.F138F UBN1_ENST00000590769.1_Silent_p.F138F|UBN1_ENST00000545171.1_Silent_p.F138F|UBN1_ENST00000262376.6_Silent_p.F138F NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 138 Sufficient for interaction with HIRA. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 CCGACTCCTTCATCGATAACT 0.463000 10 16 0 0 0.006214 0 0 GCHFR 2644 broad.mit.edu 37 15 41056396 41056396 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr15:41056396C>T ENST00000260447.4 + 1 179 c.18C>T c.(16-18)atC>atT p.I6I GCHFR_ENST00000561160.1_Silent_p.I6I|GCHFR_ENST00000558670.1_3'UTR|GCHFR_ENST00000559445.1_Silent_p.I6I NM_005258.2 NP_005249.1 P30047 GFRP_HUMAN GTP cyclohydrolase I feedback regulator 6 negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process cytosol|dendrite|melanosome|nuclear membrane endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1) 6 all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163) ACCTGCTCATCAGCACCCAGA 0.701000 5 1 0 0 0.000602 0 0 ERBB3 2065 broad.mit.edu 37 12 56486584 56486584 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:56486584G>A ENST00000267101.3 + 10 1603 c.1163G>A c.(1162-1164)cGg>cAg p.R388Q ERBB3_ENST00000415288.2_Missense_Mutation_p.R329Q|ERBB3_ENST00000450146.2_Intron NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 388 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) AATGTCTTCCGGACAGTACGG 0.458000 12 123 0 0 0.002450 0 0 RP1L1 94137 broad.mit.edu 37 8 10466760 10466760 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr8:10466760G>A ENST00000382483.3 - 4 5071 c.4848C>T c.(4846-4848)ctC>ctT p.L1616L NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1616 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) AGAAGGCCGAGAGGTTTCGCA 0.706000 13 12 0 0 0.001855 0 0 ZNF784 147808 broad.mit.edu 37 19 56133794 56133794 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:56133794C>G ENST00000325351.4 - 2 334 c.295G>C c.(295-297)Gac>Cac p.D99H ZNF784_ENST00000591479.1_3'UTR NM_203374.1 NP_976308.1 Q8NCA9 ZN784_HUMAN zinc finger protein 784 99 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1) 1 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CGGCTCGGGTCCCCACCCTGC 0.726000 4 19 0 0 0.009096 0 0 NRXN1 9378 broad.mit.edu 37 2 50318575 50318575 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:50318575C>G ENST00000404971.1 - 20 5063 c.3724G>C c.(3724-3726)Gaa>Caa p.E1242Q NRXN1_ENST00000406859.3_Missense_Mutation_p.E1202Q|NRXN1_ENST00000405472.3_Missense_Mutation_p.E1194Q|NRXN1_ENST00000342183.5_Missense_Mutation_p.E167Q|NRXN1_ENST00000401710.1_Missense_Mutation_p.E220Q|NRXN1_ENST00000401669.2_Missense_Mutation_p.E1202Q|NRXN1_ENST00000402717.3_Missense_Mutation_p.E1194Q|NRXN1_ENST00000406316.2_Missense_Mutation_p.E1202Q NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1202 Laminin G-like 6. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GCATTGGATTCTTCAATGGCG 0.438000 27 126 0 0 0.004656 0 0 FAM110A 83541 broad.mit.edu 37 20 825768 825768 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:825768C>T ENST00000304189.2 + 3 702 c.321C>T c.(319-321)ctC>ctT p.L107L FAM110A_ENST00000381941.3_Silent_p.L107L|FAM110A_ENST00000381939.1_Silent_p.L107L|FAM110A_ENST00000246100.3_Silent_p.L107L|FAM110A_ENST00000541082.1_Silent_p.L107L Q9BQ89 F110A_HUMAN family with sequence similarity 110, member A 107 microtubule organizing center|spindle pole protein binding breast(1)|lung(2) 3 TGGACATCCTCAGCAGCCTCA 0.721000 9 9 0 0 0.010729 0 0 CEP70 80321 broad.mit.edu 37 3 138219388 138219388 + Nonsense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:138219388G>A ENST00000264982.3 - 15 1656 c.1390C>T c.(1390-1392)Caa>Taa p.Q464* CEP70_ENST00000484888.1_Nonsense_Mutation_p.Q464*|CEP70_ENST00000542237.1_Nonsense_Mutation_p.Q444*|CEP70_ENST00000489254.1_Nonsense_Mutation_p.Q312*|CEP70_ENST00000481834.1_Nonsense_Mutation_p.Q464* NM_024491.2 NP_077817.2 Q8NHQ1 CEP70_HUMAN centrosomal protein 70kDa 464 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 TGCAAAGTTTGAAAGTGTGGC 0.323000 116 255 0 0 0.014410 0 0 DLX3 1747 broad.mit.edu 37 17 48068882 48068882 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:48068882C>T ENST00000434704.2 - 3 1088 c.863G>A c.(862-864)tGa>tAa p.*288* DLX3_ENST00000512495.2_Silent_p.*168* NM_005220.2 NP_005211.1 O60479 DLX3_HUMAN distal-less homeobox 3 0 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 GATGGGTGCTCAGTACACAGC 0.642000 5 26 0 0 0.000602 0 0 LAIR1 3903 broad.mit.edu 37 19 54872615 54872615 + Missense_Mutation SNP A A G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:54872615A>G ENST00000391743.3 - 2 498 c.218T>C c.(217-219)gTa>gCa p.V73A LAIR1_ENST00000463489.1_Splice_Site|LAIR1_ENST00000434277.2_Missense_Mutation_p.V90A|LAIR1_ENST00000313038.6_Missense_Mutation_p.V84A|LAIR1_ENST00000348231.4_Missense_Mutation_p.V91A|LAIR1_ENST00000391742.2_Missense_Mutation_p.V91A|LAIR1_ENST00000474878.1_Missense_Mutation_p.V90A Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like receptor 1 91 Ig-like C2-type. integral to membrane|plasma membrane protein binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3) 26 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) TCCTTCACTTACTGAGTCAAT 0.498000 9 276 0 0 0.008291 0 0 PLD6 201164 broad.mit.edu 37 17 17109483 17109483 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:17109483C>T ENST00000321560.3 - 1 146 c.118G>A c.(118-120)Gag>Aag p.E40K RP11-45M22.4_ENST00000427497.3_Intron NM_178836.3 NP_849158.2 Q8N2A8 PLD6_HUMAN phospholipase D family, member 6 40 DNA methylation involved in gamete generation|lipid catabolic process|meiosis|mitochondrial fusion|P granule organization|piRNA metabolic process|spermatid development integral to membrane|mitochondrial outer membrane cardiolipin hydrolase activity|protein homodimerization activity endometrium(1)|lung(1) 2 AACAGCGCCTcgcgccgcggc 0.771000 5 3 0 0 0.000602 0 0 MAML3 55534 broad.mit.edu 37 4 140651796 140651796 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr4:140651796C>T ENST00000509479.2 - 3 2961 c.2105G>A c.(2104-2106)cGa>cAa p.R702Q MGST2_ENST00000515137.1_Intron NM_018717.4 NP_061187 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 698 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) GCCTGTGGTTCGGGGAAGTCC 0.632000 4 12 0 0 0.000602 0 0 TRIM51 84767 broad.mit.edu 37 11 55658689 55658689 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:55658689G>C ENST00000449290.2 + 7 1032 c.940G>C c.(940-942)Gac>Cac p.D314H TRIM51_ENST00000244891.3_Missense_Mutation_p.D171H NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 314 B30.2/SPRY. intracellular zinc ion binding p.D314Y(1)|p.D155Y(1) TGTTGGATGTGACCCTCAAGA 0.388000 80 46 0 0 0.014410 0 0 ASPM 259266 broad.mit.edu 37 1 197070512 197070512 + Missense_Mutation SNP T T G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:197070512T>G ENST00000367409.4 - 18 8125 c.7869A>C c.(7867-7869)gaA>gaC p.E2623D ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2623 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CCTGGTGCTGTTCCTGAATCT 0.343000 13 12 0 0 0.001855 0 0 INSM2 84684 broad.mit.edu 37 14 36005008 36005008 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr14:36005008C>G ENST00000307169.3 + 1 1761 c.1550C>G c.(1549-1551)tCt>tGt p.S517C NM_032594.3 NP_115983.3 Q96T92 INSM2_HUMAN insulinoma-associated 2 517 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 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) AGCGGGCCATCTGACGGGAGT 0.627000 12 22 0 0 0.010729 0 0 PLEKHN1 84069 broad.mit.edu 37 1 906303 906303 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:906303G>C ENST00000379409.2 + 5 679 c.649G>C c.(649-651)Gag>Cag p.E217Q PLEKHN1_ENST00000379407.3_Missense_Mutation_p.E177Q|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.E177Q Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N member 1 217 PH 1. central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 9 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) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) CAGCCGGGCCGAGCTGGACCG 0.726000 17 11 0 0 0.006122 0 0 LRP1B 53353 broad.mit.edu 37 2 140995786 140995786 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:140995786C>T ENST00000389484.3 - 89 14466 c.13495G>A c.(13495-13497)Gag>Aag p.E4499K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4499 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding 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) TGATCTACCTCATACATGTTA 0.338000 TSP Lung(27;0.18) 11 54 0 0 0.008291 0 0 RNF111 54778 broad.mit.edu 37 15 59350705 59350705 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr15:59350705C>T ENST00000348370.4 + 5 1755 c.1322C>T c.(1321-1323)tCa>tTa p.S441L RNF111_ENST00000559209.1_Missense_Mutation_p.S441L|RNF111_ENST00000557998.1_Missense_Mutation_p.S441L|RNF111_ENST00000561186.1_Missense_Mutation_p.S441L|RNF111_ENST00000434298.1_Missense_Mutation_p.S441L NM_001270528.1|NM_001270529.1|NM_017610.7 NP_001257457.1|NP_001257458.1|NP_060080.6 Q6ZNA4 RN111_HUMAN ring finger protein 111 441 Ser-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all cancers(107;0.194) TCAGAGACTTCAGCTACTCTT 0.448000 129 112 0 0 0.014410 0 0 ATP1B2 482 broad.mit.edu 37 17 7554879 7554879 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:7554879G>C ENST00000250111.4 + 1 450 c.43G>C c.(43-45)Gag>Cag p.E15Q NM_001678.3 NP_001669.3 P14415 AT1B2_HUMAN ATPase, Na+/K+ transporting, beta 2 polypeptide 15 ATP biosynthetic process|blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|sodium:potassium-exchanging ATPase activity p.0?(2)|p.?(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1) 10 all_cancers(10;0.000178)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168) GCAGGTGGTTGAGGAGTGGAA 0.697000 2 6 0 0 0.004672 0 0 EIF4G3 8672 broad.mit.edu 37 1 21268770 21268770 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:21268770G>A ENST00000602326.1 - 12 1310 c.727C>T c.(727-729)Cta>Tta p.L243L EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000400422.1_Silent_p.L237L|EIF4G3_ENST00000356916.3_Silent_p.L248L|EIF4G3_ENST00000374937.3_Silent_p.L243L|EIF4G3_ENST00000264211.8_Silent_p.L237L|EIF4G3_ENST00000374927.4_Silent_p.L237L|EIF4G3_ENST00000536266.1_5'UTR NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 237 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity p.L237L(1)|p.L243L(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CTGAGGACTAGCCTAAGGACT 0.438000 27 108 0 0 0.006320 0 0 SLC45A4 57210 broad.mit.edu 37 8 142228412 142228412 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr8:142228412C>T ENST00000519067.1 - 4 1477 c.1174G>A c.(1174-1176)Gcc>Acc p.A392T SLC45A4_ENST00000024061.3_Missense_Mutation_p.A392T|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A385T|SLC45A4_ENST00000517878.1_Missense_Mutation_p.A443T Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 443 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) ACGGCGTTGGCGCGCCGGTAG 0.692000 5 68 0 0 0.000602 0 0 DDX42 11325 broad.mit.edu 37 17 61895626 61895626 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:61895626G>C ENST00000578681.1 + 19 3286 c.2685G>C c.(2683-2685)aaG>aaC p.K895N DDX42_ENST00000582985.1_Intron|DDX42_ENST00000583590.1_Missense_Mutation_p.K895N|DDX42_ENST00000359353.5_Missense_Mutation_p.K776N|DDX42_ENST00000457800.2_Missense_Mutation_p.K895N|DDX42_ENST00000389924.2_Missense_Mutation_p.K895N NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 895 protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 GTGAGAGCAAGATGGAGCCCA 0.547000 43 63 0 0 0.006999 0 0 CCDC38 120935 broad.mit.edu 37 12 96312708 96312708 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:96312708G>C ENST00000344280.3 - 3 641 c.84C>G c.(82-84)atC>atG p.I28M NM_182496.2 NP_872302.2 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 28 breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CTCTGAAAAAGATCTTATAAG 0.338000 12 86 0 0 0.001855 0 0 APOL5 80831 broad.mit.edu 37 22 36122831 36122831 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr22:36122831G>A ENST00000249044.2 + 3 716 c.716G>A c.(715-717)gGc>gAc p.G239D NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 239 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 GCTATCCAGGGCATCAAGGAT 0.468000 4 178 0 0 0.009096 0 0 HACE1 57531 broad.mit.edu 37 6 105198288 105198288 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:105198288G>C ENST00000262903.4 - 20 2547 c.2271C>G c.(2269-2271)atC>atG p.I757M HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Missense_Mutation_p.I542M NM_020771.3 NP_065822.2 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 757 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 44 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) AAAAAGCATTGATCTGAGGCT 0.383000 4 18 0 0 0.000602 0 0 PLXND1 23129 broad.mit.edu 37 3 129289674 129289674 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:129289674C>T ENST00000393239.1 - 19 3883 c.3705G>A c.(3703-3705)tcG>tcA p.S1235S PLXND1_ENST00000324093.4_Silent_p.S1235S Q9Y4D7 PLXD1_HUMAN plexin D1 1235 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 ACTCGTTGACCGAGCAGTGGA 0.637000 115 159 0 0 0.014410 0 0 VDAC1 7416 broad.mit.edu 37 5 133326753 133326753 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:133326753C>T ENST00000265333.3 - 4 454 c.210G>A c.(208-210)acG>acA p.T70T VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395044.3_Silent_p.T70T|VDAC1_ENST00000395047.2_Silent_p.T70T NM_003374.2 NP_003365.1 P21796 VDAC1_HUMAN voltage-dependent anion channel 1 70 apoptosis|interspecies interaction between organisms mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex porin activity|protein binding|voltage-gated anion channel activity endometrium(1)|large_intestine(1)|lung(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) Dihydroxyaluminium(DB01375) TCTCTGTAAACGTCAGGCCGT 0.458000 12 80 0 0 0.010729 0 0 C12orf43 64897 broad.mit.edu 37 12 121454205 121454205 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:121454205G>C ENST00000288757.3 - 1 95 c.73C>G c.(73-75)Cgg>Ggg p.R25G C12orf43_ENST00000366211.2_5'UTR|C12orf43_ENST00000536407.2_Missense_Mutation_p.R25G|C12orf43_ENST00000539736.1_Missense_Mutation_p.R25G|C12orf43_ENST00000537817.1_5'UTR|C12orf43_ENST00000445832.3_5'UTR NM_022895.1 NP_075046.1 Q96C57 CL043_HUMAN chromosome 12 open reading frame 43 25 cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TCGCGGCACCGCTCCAGCTCC 0.622000 5 74 0 0 0.001168 0 0 SUZ12P1 440423 broad.mit.edu 37 17 29061941 29061941 + RNA SNP T T C rs112064181 by1000genomes TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:29061941T>C ENST00000582557.1 + 0 861 TAGATTTCTTTGAACTCGGAA 0.303000 6 46 0 0 0.001168 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8654344 8654344 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:8654344C>T ENST00000270328.4 - 16 2292 c.2026G>A c.(2026-2028)Gaa>Aaa p.E676K ADAMTS10_ENST00000597188.1_Missense_Mutation_p.E676K|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.E163K Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 676 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 ACCTTGCATTCGCCACTGACG 0.657000 95 84 0 0 0.014410 0 0 NUP43 348995 broad.mit.edu 37 6 150048189 150048189 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:150048189C>T ENST00000340413.2 - 8 1135 c.1059G>A c.(1057-1059)gtG>gtA p.V353V NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000460354.2_Silent_p.V353V|NUP43_ENST00000367404.4_Silent_p.V257V NM_198887.1 NP_942590.1 Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 353 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101) CCAAAGTGTTCACAGACAGAG 0.398000 23 21 0 0 0.003330 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160244690 160244690 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr4:160244690G>A ENST00000264431.4 + 5 1006 c.587G>A c.(586-588)gGa>gAa p.G196E NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 196 cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) CTGTGCATGGGAAATAGTTTT 0.383000 12 30 0 0 0.013537 0 0 OR6K6 128371 broad.mit.edu 37 1 158725183 158725183 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:158725183C>T ENST00000368144.2 + 1 674 c.578C>T c.(577-579)aCc>aTc p.T193I NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 193 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T193S(1) endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) TGGATTTCCACCTTGCCTTTC 0.478000 41 45 0 0 0.006230 0 0 TRIO 7204 broad.mit.edu 37 5 14497101 14497101 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:14497101G>A ENST00000344204.4 + 50 8018 c.7994G>A c.(7993-7995)gGa>gAa p.G2665E TRIO_ENST00000537187.1_Missense_Mutation_p.G2489E|TRIO_ENST00000344135.5_Missense_Mutation_p.G164E NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2665 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|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TCACGGGAAGGACTCAGCAAC 0.493000 11 45 0 0 0.008291 0 0 LSG1 55341 broad.mit.edu 37 3 194392818 194392818 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:194392818C>T ENST00000265245.5 - 1 388 c.74G>A c.(73-75)cGa>cAa p.R25Q LSG1_ENST00000480853.1_Intron NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 25 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) ACGATGGCTTCGGCTCCGCTG 0.582000 27 47 0 0 0.007291 0 0 LPIN2 9663 broad.mit.edu 37 18 2925292 2925292 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr18:2925292G>A ENST00000261596.4 - 14 2106 c.1868C>T c.(1867-1869)cCc>cTc p.P623L NM_014646.2 NP_055461.1 Q92539 LPIN2_HUMAN lipin 2 623 fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 29 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) GGGCTCTGTGGGGATGGGGTC 0.547000 35 111 0 0 0.003755 0 0 MUC16 94025 broad.mit.edu 37 19 9060229 9060229 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:9060229C>T ENST00000397910.4 - 3 27420 c.27217G>A c.(27217-27219)Gaa>Aaa p.E9073K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9075 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding 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 TCTGTAGATTCTGTCTTGATG 0.488000 98 74 0 0 0.014410 0 0 POLR3B 55703 broad.mit.edu 37 12 106820987 106820987 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:106820987C>T ENST00000228347.4 + 13 1336 c.1114C>T c.(1114-1116)Ctt>Ttt p.L372F POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F|POLR3B_ENST00000549195.1_3'UTR NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 372 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L372F(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTATCTCTTCTTTTTGAAGA 0.274000 6 19 0 0 0.003080 0 0 CSMD2 114784 broad.mit.edu 37 1 33992844 33992844 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:33992844C>T ENST00000373381.4 - 65 10362 c.10186G>A c.(10186-10188)Ggg>Agg p.G3396R NM_001281956.1|NM_052896.3 NP_001268885.1|NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3252 integral to membrane|plasma membrane protein binding p.G3252W(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ATGGGTCTCCCACTGGGCCGG 0.502000 7 61 0 0 0.004482 0 0 ZNF254 9534 broad.mit.edu 37 19 24309978 24309978 + Silent SNP T T C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:24309978T>C ENST00000357002.4 + 4 1291 c.1176T>C c.(1174-1176)acT>acC p.T392T ZNF254_ENST00000342944.6_Silent_p.T307T NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 392 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) AACTCTCAACTCTTACTACAC 0.353000 5 49 0 0 0.001855 0 0 FAT4 79633 broad.mit.edu 37 4 126241535 126241535 + Missense_Mutation SNP T T A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr4:126241535T>A ENST00000394329.3 + 1 3982 c.3969T>A c.(3967-3969)gaT>gaA p.D1323E NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1323 Cadherin 13. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TCTTTGTTGATGTTTTGGAAA 0.368000 19 41 0 0 0.007413 0 0 MMP21 118856 broad.mit.edu 37 10 127464241 127464241 + Silent SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:127464241G>C ENST00000368808.3 - 1 149 c.150C>G c.(148-150)ctC>ctG p.L50L NM_147191.1 NP_671724.1 Q8N119 MMP21_HUMAN matrix metallopeptidase 21 50 proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 16 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) GAGCAGCGTGGAGGTCGGCAA 0.682000 28 28 0 0 0.008361 0 0 CELA2B 51032 broad.mit.edu 37 1 15809801 15809801 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:15809801C>T ENST00000375910.3 + 5 424 c.399C>T c.(397-399)ctC>ctT p.L133L CELA2B_ENST00000494280.1_3'UTR NM_015849.2 NP_056933 P08218 CEL2B_HUMAN chymotrypsin-like elastase family, member 2B 133 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 CCGTCTCCCTCACCGACAAGA 0.602000 32 42 0 0 0.004878 0 0 NONO 4841 broad.mit.edu 37 X 70514379 70514379 + Splice_Site SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chrX:70514379G>A ENST00000535149.1 + 3 1026 c.e3+1 NONO_ENST00000373856.3_Splice_Site|NONO_ENST00000276079.8_Splice_Site|NONO_ENST00000490044.1_Splice_Site|NONO_ENST00000373841.1_Splice_Site NM_001145410.1 NP_001138882.1 Q15233 NONO_HUMAN non-POU domain containing, octamer-binding DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|identical protein binding|nucleotide binding|RNA binding NONO/TFE3(2) endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 19 Renal(35;0.156) TGCTAACCACGTAAGTGAGGG 0.473000 T TFE3 papillary renal cancer 9 1 0 0 0.004482 0 0 OGFRL1 79627 broad.mit.edu 37 6 72011597 72011597 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:72011597G>C ENST00000370435.4 + 7 1335 c.1201G>C c.(1201-1203)Gag>Cag p.E401Q RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA NM_024576.3 NP_078852.3 Q5TC84 OGRL1_HUMAN opioid growth factor receptor-like 1 401 membrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1) 13 CAGTAATGCTGAGAACATGAA 0.458000 28 42 0 0 0.007291 0 0 ZNF783 100289678 broad.mit.edu 37 7 148978676 148978676 + Missense_Mutation SNP G G T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:148978676G>T ENST00000434415.1 + 6 1046 c.883G>T c.(883-885)Ggc>Tgc p.G295C ZNF783_ENST00000489518.1_Intron NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 295 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) GGTGTCCCGAGGCCAGACCGA 0.652000 25 44 6.32553e-13 6.83429e-13 0.004656 1 0 ARHGAP33 115703 broad.mit.edu 37 19 36279303 36279303 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:36279303C>T ENST00000007510.4 + 21 3980 c.3836C>T c.(3835-3837)tCt>tTt p.S1279F ARHGAP33_ENST00000314737.5_Missense_Mutation_p.S1118F|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.S1115F O14559 RHG33_HUMAN Rho GTPase activating protein 33 1279 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 TCCCTCCACTCTGAGGGCCAG 0.632000 6 7 0 0 0.001168 0 0 RNF111 54778 broad.mit.edu 37 15 59350651 59350651 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr15:59350651C>T ENST00000348370.4 + 5 1701 c.1268C>T c.(1267-1269)tCt>tTt p.S423F RNF111_ENST00000559209.1_Missense_Mutation_p.S423F|RNF111_ENST00000557998.1_Missense_Mutation_p.S423F|RNF111_ENST00000561186.1_Missense_Mutation_p.S423F|RNF111_ENST00000434298.1_Missense_Mutation_p.S423F NM_001270528.1|NM_001270529.1|NM_017610.7 NP_001257457.1|NP_001257458.1|NP_060080.6 Q6ZNA4 RN111_HUMAN ring finger protein 111 423 Ser-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all cancers(107;0.194) GAGCAGGCCTCTGATACTGCT 0.458000 154 113 0 0 0.014410 0 0 OR10S1 219873 broad.mit.edu 37 11 123848240 123848240 + Silent SNP A A C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:123848240A>C ENST00000531945.1 - 1 248 c.159T>G c.(157-159)gcT>gcG p.A53A NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GGAGATTCCCAGCCACAGTGA 0.532000 14 17 0 0 0.002450 0 0 SNTA1 6640 broad.mit.edu 37 20 32000163 32000163 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:32000163G>C ENST00000217381.2 - 5 1250 c.979C>G c.(979-981)Ctc>Gtc p.L327V NM_003098.2 NP_003089.1 Q13424 SNTA1_HUMAN syntrophin, alpha 1 327 PH 2. muscle contraction cell junction|cytoplasm|cytoskeleton|sarcolemma actin binding|calmodulin binding breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1) 13 GTCTCGGGGAGAGACAAGTAG 0.632000 13 35 0 0 0.004007 0 0 TMEM44 93109 broad.mit.edu 37 3 194336335 194336335 + Missense_Mutation SNP A A G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:194336335A>G ENST00000392432.2 - 8 1221 c.1016T>C c.(1015-1017)cTt>cCt p.L339P TMEM44_ENST00000473092.1_Missense_Mutation_p.L292P|TMEM44_ENST00000381975.3_Missense_Mutation_p.L292P|TMEM44_ENST00000347147.4_Missense_Mutation_p.L292P|TMEM44_ENST00000273580.7_Missense_Mutation_p.L292P NM_001166305.1 NP_001159777.1 Q2T9K0 TMM44_HUMAN transmembrane protein 44 339 integral to membrane breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1) 8 all_cancers(143;1.41e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;9.06e-06) ACAGGTCAAAAGGGCTTGGGT 0.498000 4 306 0 0 0.001168 0 0 CIR1 9541 broad.mit.edu 37 2 175213677 175213677 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:175213677C>T ENST00000342016.3 - 10 993 c.901G>A c.(901-903)Ggg>Agg p.G301R CIR1_ENST00000362053.5_3'UTR NM_004882.3 NP_004873.3 Q86X95 CIR1_HUMAN corepressor interacting with RBPJ, 1 301 Lys/Ser-rich. mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 TTGTTATGCCCTGAACACttg 0.378000 33 66 0 0 0.010818 0 0 MUC3A 4584 broad.mit.edu 37 7 100552516 100552516 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:100552516G>A ENST00000319509.7 + 1 1267 c.1267G>A c.(1267-1269)Gag>Aag p.E423K mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 GCCCACCAGTGAGACCTGGCT 0.542000 50 135 0 0 0.014410 0 0 USP35 57558 broad.mit.edu 37 11 77921098 77921098 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:77921098G>A ENST00000529308.1 + 10 2458 c.2197G>A c.(2197-2199)Gaa>Aaa p.E733K USP35_ENST00000530535.1_3'UTR|USP35_ENST00000526425.1_Missense_Mutation_p.E464K|USP35_ENST00000530267.1_Missense_Mutation_p.E301K|USP35_ENST00000441408.2_Missense_Mutation_p.E319K NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 733 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) ggaaaaggaagaagaCAGCCT 0.607000 34 20 0 0 0.013726 0 0 USP15 9958 broad.mit.edu 37 12 62790135 62790135 + Silent SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:62790135G>C ENST00000280377.5 + 20 2689 c.2631G>C c.(2629-2631)ctG>ctC p.L877L USP15_ENST00000353364.3_Silent_p.L848L|USP15_ENST00000393654.3_Silent_p.L852L NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 877 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) GCTATAATCTGATTGCTGTTT 0.393000 12 54 0 0 0.013537 0 0 HLA-DQA1 3117 broad.mit.edu 37 6 32609935 32609935 + Missense_Mutation SNP A A G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:32609935A>G ENST00000343139.5 + 3 620 c.518A>G c.(517-519)aAg>aGg p.K173R HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.K173R|HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.K173R NM_002122.3 NP_002113.2 P01909 DQA1_HUMAN major histocompatibility complex, class II, DQ alpha 1 172 Alpha-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 TCCTTCTTCAAGATCAGTTAC 0.512000 18 67 0 0 0.012319 0 0 GCC2 9648 broad.mit.edu 37 2 109086467 109086467 + Nonsense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:109086467C>T ENST00000309863.6 + 6 1396 c.682C>T c.(682-684)Cag>Tag p.Q228* GCC2_ENST00000485546.1_3'UTR NM_181453.3 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 228 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 GGCTAATTCTCAGCATTACCA 0.358000 48 62 0 0 0.011902 0 0 KDM2B 84678 broad.mit.edu 37 12 121867944 121867944 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:121867944G>A ENST00000377069.4 - 23 4179 c.3773C>T c.(3772-3774)tCa>tTa p.S1258L KDM2B_ENST00000542973.1_3'UTR|KDM2B_ENST00000536437.1_3'UTR|KDM2B_ENST00000377071.4_3'UTR|RNF34_ENST00000392464.2_Missense_Mutation_p.E391K NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 0 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 ACGGGTGGTTGAACAGCTTCT 0.453000 24 98 0 0 0.004656 0 0 PCM1 5108 broad.mit.edu 37 8 17813004 17813004 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr8:17813004G>C ENST00000325083.8 + 10 1753 c.1314G>C c.(1312-1314)caG>caC p.Q438H PCM1_ENST00000518537.1_Missense_Mutation_p.Q477H|PCM1_ENST00000519253.1_Missense_Mutation_p.Q438H|PCM1_ENST00000524226.1_Missense_Mutation_p.Q438H NM_006197.3 NP_006188 Q15154 PCM1_HUMAN pericentriolar material 1 438 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) GTGTCGATCAGAGAAGTACTT 0.433000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 6 6 0 0 0.001168 0 0 MED1 5469 broad.mit.edu 37 17 37564338 37564338 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:37564338G>A ENST00000300651.6 - 17 4359 c.4136C>T c.(4135-4137)tCa>tTa p.S1379L MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 1379 Interaction with TP53.|Ser-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) TTTTGACTCTGAGGTCTTCTT 0.443000 HNSCC(31;0.082) 52 76 0 0 0.014410 0 0 CROCCP2 84809 broad.mit.edu 37 1 16959757 16959757 + RNA SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:16959757C>G ENST00000412962.1 - 0 74 AGGGCTGGCTCGACCCGGCTC 0.667000 3 13 0 0 0.009096 0 0 KATNA1 11104 broad.mit.edu 37 6 149959681 149959681 + Translation_Start_Site SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:149959681C>G ENST00000367411.2 - 2 261 c.3G>C c.(1-3)atG>atC p.M1I KATNA1_ENST00000335647.5_Start_Codon_SNP_p.M1I|KATNA1_ENST00000335643.8_Start_Codon_SNP_p.M1I NM_007044.3 NP_008975.1 O75449 KTNA1_HUMAN katanin p60 (ATPase containing) subunit A 1 1 Interaction with KATNB1.|Interaction with microtubule. cell division|interphase of mitotic cell cycle|mitosis microtubule|microtubule organizing center|spindle pole ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 12 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173) TAAGAAGACTCATGTTCAACT 0.333000 27 124 0 0 0.005443 0 0 MYO5B 4645 broad.mit.edu 37 18 47500848 47500848 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr18:47500848G>C ENST00000285039.7 - 10 1493 c.1194C>G c.(1192-1194)atC>atG p.I398M NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 398 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TGCGCGCATTGATCACCTGCT 0.582000 27 29 0 0 0.004656 0 0 NOC2L 26155 broad.mit.edu 37 1 892328 892328 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:892328C>G ENST00000327044.6 - 4 481 c.432G>C c.(430-432)aaG>aaC p.K144N NOC2L_ENST00000487214.1_5'UTR NM_015658.3 NP_056473 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog (S. cerevisiae) 144 nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) GAACAGAATTCTTCTTCCCCT 0.592000 72 124 0 0 0.014410 0 0 ECHDC3 79746 broad.mit.edu 37 10 11797603 11797603 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:11797603G>C ENST00000379215.4 + 4 798 c.587G>C c.(586-588)aGa>aCa p.R196T ECHDC3_ENST00000496136.1_3'UTR NM_024693.4 NP_078969 Q96DC8 ECHD3_HUMAN enoyl CoA hydratase domain containing 3 196 mitochondrion catalytic activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1) 4 GCAGTGCCTAGAAAGGTAATT 0.557000 11 13 0 0 0.013537 0 0 BOC 91653 broad.mit.edu 37 3 112998700 112998700 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:112998700C>G ENST00000495514.1 + 13 2754 c.2050C>G c.(2050-2052)Ctg>Gtg p.L684V BOC_ENST00000355385.3_Missense_Mutation_p.L684V|BOC_ENST00000273395.4_Missense_Mutation_p.L685V Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 684 Fibronectin type-III 2. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) AGTCCGGGCTCTGAACATGCT 0.612000 55 118 0 0 0.014410 0 0 BAI2 576 broad.mit.edu 37 1 32205546 32205546 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:32205546C>T ENST00000373658.3 - 14 2489 c.2148G>A c.(2146-2148)ctG>ctA p.L716L BAI2_ENST00000440175.2_Silent_p.L358L|BAI2_ENST00000398547.1_Silent_p.L649L|BAI2_ENST00000398538.1_Silent_p.L704L|BAI2_ENST00000527361.1_Silent_p.L716L|BAI2_ENST00000373655.2_Silent_p.L716L|BAI2_ENST00000398542.1_Silent_p.L649L|BAI2_ENST00000398556.3_Silent_p.L664L|BAI2_ENST00000257070.4_Silent_p.L716L NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 716 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) CTGTGACAATCAGAGAGCTCT 0.552000 11 48 0 0 0.010729 0 0 OR5L1 219437 broad.mit.edu 37 11 55579623 55579623 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:55579623G>A ENST00000333973.2 + 1 770 c.681G>A c.(679-681)aaG>aaA p.K227K NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) CCATCCTGAAGATGGGCTCTG 0.498000 24 73 0 0 0.002780 0 0 STS 412 broad.mit.edu 37 X 7268123 7268123 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chrX:7268123G>A ENST00000217961.4 + 10 1793 c.1573G>A c.(1573-1575)Gaa>Aaa p.E525K NM_000351.4 NP_000342.2 P08842 STS_HUMAN steroid sulfatase (microsomal), isozyme S 525 female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1) 27 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) CCGGTTTTATGAAATCCTCAA 0.498000 Ichthyosis 15 10 0 0 0.003163 0 0 AGBL1 123624 broad.mit.edu 37 15 86790936 86790936 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr15:86790936C>T ENST00000441037.2 + 6 518 c.423C>T c.(421-423)taC>taT p.Y141Y AGBL1_ENST00000421325.2_Silent_p.Y141Y NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 141 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 ACCGAGGCTACGTCACCAGCC 0.597000 10 8 0 0 0.006214 0 0 ZP4 57829 broad.mit.edu 37 1 238053789 238053789 + Silent SNP T T C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:238053789T>C ENST00000366570.4 - 1 305 c.147A>G c.(145-147)gcA>gcG p.A49A RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 49 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 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) GAGGAGACGTTGCCTCCTGGT 0.498000 4 34 0 0 0.000602 0 0 CROT 54677 broad.mit.edu 37 7 86988563 86988563 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:86988563G>A ENST00000331536.3 + 4 342 c.157G>A c.(157-159)Gaa>Aaa p.E53K CROT_ENST00000412227.2_Missense_Mutation_p.E53K|CROT_ENST00000442291.1_Missense_Mutation_p.E53K|CROT_ENST00000419147.2_Missense_Mutation_p.E81K NM_021151.3 NP_066974.2 Q9UKG9 OCTC_HUMAN carnitine O-octanoyltransferase 53 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) GAAAACTGAAGAAATAGTTCA 0.308000 8 41 0 0 0.003080 0 0 ABCA13 154664 broad.mit.edu 37 7 48318168 48318168 + Silent SNP T T C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:48318168T>C ENST00000435803.1 + 18 7401 c.7377T>C c.(7375-7377)ttT>ttC p.F2459F NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 2459 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TGCTTTTCTTTATAAATAATT 0.343000 48 79 0 0 0.014410 0 0 EIF2B5 8893 broad.mit.edu 37 3 183858320 183858320 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:183858320C>T ENST00000273783.3 + 7 1080 c.958C>T c.(958-960)Cct>Tct p.P320S EIF2B5_ENST00000444495.1_Missense_Mutation_p.P320S NM_003907.2 NP_003898.2 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 320 astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1) 27 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) ATGGGTCTACCCTCTCACCCC 0.577000 93 129 0 0 0.014410 0 0 OBSCN 84033 broad.mit.edu 37 1 228509288 228509288 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:228509288C>T ENST00000570156.2 + 66 17691 c.17617C>T c.(17617-17619)Cgg>Tgg p.R5873W OBSCN_ENST00000284548.11_Missense_Mutation_p.R4916W|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4916W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2035W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2550W NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4916 DH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGATGCCCTGCGGCTGGAGTG 0.617000 17 21 0 0 0.008871 0 0 NME2 4831 broad.mit.edu 37 17 49231768 49231768 + Nonsense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:49231768C>T ENST00000555572.1 + 2 210 c.34C>T c.(34-36)Caa>Taa p.Q12* NME1_ENST00000336097.3_Nonsense_Mutation_p.Q12*|NME1_ENST00000480143.1_Nonsense_Mutation_p.Q12*|NME1_ENST00000511355.1_Intron|NME1_ENST00000393196.3_Intron|NME2_ENST00000376392.6_Intron|NME2_ENST00000393193.2_Intron|NME1-NME2_ENST00000393198.3_Intron|NME1-NME2_ENST00000608447.1_Nonsense_Mutation_p.Q12*|NME1_ENST00000013034.3_Nonsense_Mutation_p.Q12* NME/NM23 nucleoside diphosphate kinase 2 endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 6 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) GATCGTCTTTCAAGGCGAGGG 0.478000 31 99 0 0 0.003755 0 0 SUPT20H 55578 broad.mit.edu 37 13 37584737 37584737 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr13:37584737C>T ENST00000350612.6 - 25 2374 c.2154G>A c.(2152-2154)caG>caA p.Q718Q SUPT20H_ENST00000475892.1_Intron|SUPT20H_ENST00000464744.1_Intron|SUPT20H_ENST00000360252.4_Intron|SUPT20H_ENST00000356185.3_Intron NM_001014286.2 NP_001014308.2 suppressor of Ty 20 homolog (S. cerevisiae) GCTGGAATCTCTGCTGAGGAA 0.463000 21 56 0 0 0.002780 0 0 NT5DC2 64943 broad.mit.edu 37 3 52558714 52558714 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:52558714G>A ENST00000307076.4 - 14 1735 c.1335C>T c.(1333-1335)ttC>ttT p.F445F NT5DC2_ENST00000459839.1_Silent_p.F457F|NT5DC2_ENST00000422318.2_Silent_p.F482F|NT5DC2_ENST00000307092.4_Silent_p.F386F NM_022908.2 NP_075059.1 Q9H857 NT5D2_HUMAN 5'-nucleotidase domain containing 2 445 hydrolase activity|metal ion binding endometrium(1)|lung(3)|prostate(1)|stomach(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476) AGATGCTGCCGAACTGCGCAT 0.627000 15 38 0 0 0.003163 0 0 SEPSECS 51091 broad.mit.edu 37 4 25160685 25160685 + Silent SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr4:25160685G>C ENST00000382103.2 - 2 231 c.159C>G c.(157-159)ctC>ctG p.L53L SEPSECS_ENST00000302922.3_Intron NM_016955.3 NP_058651.3 Q9HD40 SPCS_HUMAN Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 53 selenocysteine incorporation cytoplasm|nucleus pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding endometrium(1)|large_intestine(4)|lung(2)|stomach(1) 8 Breast(46;0.173) Pyridoxal Phosphate(DB00114) CATGTAAAAAGAGTTCAAGTG 0.393000 27 64 0 0 0.007291 0 0 NLRP3 114548 broad.mit.edu 37 1 247588705 247588705 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:247588705G>A ENST00000366497.2 + 4 2740 c.1960G>A c.(1960-1962)Gag>Aag p.E654K NLRP3_ENST00000391828.3_Missense_Mutation_p.E654K|NLRP3_ENST00000336119.3_Missense_Mutation_p.E654K|NLRP3_ENST00000348069.2_Missense_Mutation_p.E654K|NLRP3_ENST00000391827.2_Missense_Mutation_p.E654K|NLRP3_ENST00000366496.2_Missense_Mutation_p.E654K|NLRP3_ENST00000474792.1_3'UTR NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 654 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CCCCAAGATTGAGATCAATCT 0.498000 11 36 0 0 0.008291 0 0 SKA3 221150 broad.mit.edu 37 13 21736001 21736001 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr13:21736001C>T ENST00000314759.5 - 5 881 c.757G>A c.(757-759)Gat>Aat p.D253N SKA3_ENST00000400018.3_Missense_Mutation_p.D253N NM_145061.5 NP_659498.4 Q8IX90 SKA3_HUMAN spindle and kinetochore associated complex subunit 3 253 cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytoplasm|spindle microtubule protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 GATTCTGTATCTATGGCCTCC 0.363000 6 15 0 0 0.001984 0 0 MLLT6 4302 broad.mit.edu 37 17 36863784 36863784 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:36863784G>A ENST00000325718.7 + 3 326 c.235G>A c.(235-237)Gat>Aat p.D79N MLLT6_ENST00000579179.1_3'UTR|MLLT6_ENST00000378137.5_Missense_Mutation_p.D79N NM_005937.3 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 79 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) GAAGAGGACTGATAATGGAGG 0.612000 T MLL AL 19 90 0 0 0.010504 0 0 OR51B6 390058 broad.mit.edu 37 11 5373369 5373369 + Missense_Mutation SNP T T A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:5373369T>A ENST00000380219.1 + 1 632 c.632T>A c.(631-633)aTc>aAc p.I211N HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA NM_001004750.1 NP_001004750.1 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, member 6 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 21 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GACTTTCTCATCATCTTTTTC 0.443000 44 28 0 0 0.014410 0 0 SPATA31D4 389761 broad.mit.edu 37 9 84547489 84547489 + RNA SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr9:84547489C>G ENST00000585776.1 - 0 1039 SPATA31D4_ENST00000341875.4_RNA CCTAGGAACTCATATGATGCA 0.453000 8 10 0 0 0.010729 0 0 HLA-DQA2 3118 broad.mit.edu 37 6 32713754 32713754 + Missense_Mutation SNP A A G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:32713754A>G ENST00000374940.3 + 3 620 c.518A>G c.(517-519)aAg>aGg p.K173R NM_020056.4 NP_064440.1 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ alpha 2 173 Alpha-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity endometrium(2)|large_intestine(3)|lung(7)|skin(1) 13 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCCTTCTTCAAGATCAGTTAC 0.517000 26 182 0 0 0.007291 0 0 EIF4E1B 253314 broad.mit.edu 37 5 176070159 176070159 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:176070159C>T ENST00000318682.6 + 4 676 c.92C>T c.(91-93)aCa>aTa p.T31I EIF4E1B_ENST00000504597.1_Missense_Mutation_p.T31I NM_001099408.1 NP_001092878.1 A6NMX2 I4E1B_HUMAN eukaryotic translation initiation factor 4E family member 1B 31 regulation of translation cytoplasm|mRNA cap binding complex translation initiation factor activity breast(1)|large_intestine(1)|lung(2)|pancreas(1) 5 all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGACGCCCACAGGAGAAAAG 0.592000 19 26 0 0 0.008871 0 0 ZNF846 162993 broad.mit.edu 37 19 9868197 9868197 + Nonsense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:9868197G>C ENST00000397902.2 - 6 1969 c.1556C>G c.(1555-1557)tCa>tGa p.S519* ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000592859.1_Intron NM_001077624.1 NP_001071092.1 Q147U1 ZN846_HUMAN zinc finger protein 846 519 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S519L(1) NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 AGCAAGTGCTGAAGATTGAGT 0.368000 43 122 0 0 0.010771 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 3 20 0 0 0.004672 0 0 OR10G2 26534 broad.mit.edu 37 14 22102290 22102290 + Missense_Mutation SNP C C A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr14:22102290C>A ENST00000542433.1 - 1 806 c.709G>T c.(709-711)Gat>Tat p.D237Y NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) CGCCTCCCATCAGCGGTGCGT 0.542000 21 24 7.45023e-12 7.98521e-12 0.010504 1 0 MRGPRE 116534 broad.mit.edu 37 11 3249790 3249790 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:3249790G>A ENST00000389832.5 - 2 546 c.240C>T c.(238-240)atC>atT p.I80I AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Silent_p.I79I Q86SM8 MRGRE_HUMAN MAS-related GPR, member E 79 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) AGTCGGGGACGATGGCCACCA 0.622000 62 31 0 0 0.014410 0 0 VPS11 55823 broad.mit.edu 37 11 118948238 118948238 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:118948238G>A ENST00000300793.6 + 10 1492 c.1450G>A c.(1450-1452)Gat>Aat p.D484N VPS11_ENST00000527798.1_3'UTR NM_021729.4 NP_068375.3 Q9H270 VPS11_HUMAN vacuolar protein sorting 11 homolog (S. cerevisiae) 485 protein transport endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane nucleotide binding|protein binding|zinc ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 29 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.88e-05) AGTCCACTTTGATGTGGAGAC 0.507000 33 12 0 0 0.005524 0 0 PKN2 5586 broad.mit.edu 37 1 89236127 89236127 + Missense_Mutation SNP G G T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:89236127G>T ENST00000370521.3 + 4 956 c.597G>T c.(595-597)caG>caT p.Q199H PKN2_ENST00000370513.5_Missense_Mutation_p.Q199H|PKN2_ENST00000370505.3_Missense_Mutation_p.Q42H|PKN2_ENST00000316005.7_Missense_Mutation_p.Q199H NM_006256.2 NP_006247.1 Q16513 PKN2_HUMAN protein kinase N2 199 signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1) 33 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) AGGCAGTCCAGACTAATGAAT 0.408000 27 38 7.01153e-11 7.47526e-11 0.007291 1 0 GCHFR 2644 broad.mit.edu 37 15 41056393 41056393 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr15:41056393C>T ENST00000260447.4 + 1 176 c.15C>T c.(13-15)ctC>ctT p.L5L GCHFR_ENST00000561160.1_Silent_p.L5L|GCHFR_ENST00000558670.1_3'UTR|GCHFR_ENST00000559445.1_Silent_p.L5L NM_005258.2 NP_005249.1 P30047 GFRP_HUMAN GTP cyclohydrolase I feedback regulator 5 negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process cytosol|dendrite|melanosome|nuclear membrane endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1) 6 all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163) CCTACCTGCTCATCAGCACCC 0.701000 4 1 0 0 0.009096 0 0 AVL9 23080 broad.mit.edu 37 7 32598734 32598734 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:32598734G>A ENST00000318709.4 + 10 1094 c.873G>A c.(871-873)atG>atA p.M291I AVL9_ENST00000409301.1_Missense_Mutation_p.M291I|AVL9_ENST00000404479.1_Missense_Mutation_p.M291I NM_015060.1 NP_055875.1 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) 291 integral to membrane endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 ATGCTGCCATGAAGACTGAGG 0.463000 10 18 0 0 0.010729 0 0 TRPA1 8989 broad.mit.edu 37 8 72987642 72987642 + Translation_Start_Site SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr8:72987642C>T ENST00000262209.4 - 1 210 c.3G>A c.(1-3)atG>atA p.M1I NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 1 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) GGCTGCGCTTCATTGACCCCA 0.657000 49 54 0 0 0.014410 0 0 GPR98 84059 broad.mit.edu 37 5 90074805 90074805 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:90074805G>C ENST00000405460.2 + 64 13069 c.12973G>C c.(12973-12975)Gaa>Caa p.E4325Q NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4325 Calx-beta 29. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GCTCCTCTTTGAAGCAGGGGA 0.488000 28 61 0 0 0.005443 0 0 TCTA 6988 broad.mit.edu 37 3 49452277 49452277 + Silent SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:49452277C>G ENST00000273590.3 + 3 515 c.294C>G c.(292-294)ctC>ctG p.L98L TCTA_ENST00000493381.1_3'UTR NM_022171.2 NP_071503.1 P57738 TCTA_HUMAN T-cell leukemia translocation altered 98 integral to membrane large_intestine(4)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) ACGAACCTCTCAAAACCCACA 0.522000 5 23 0 0 0.001984 0 0 NOP56 10528 broad.mit.edu 37 20 2635071 2635071 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:2635071G>C ENST00000329276.5 + 4 736 c.220G>C c.(220-222)Gag>Cag p.E74Q NM_006392.3 NP_006383.2 O00567 NOP56_HUMAN NOP56 ribonucleoprotein 74 rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 GGTTGTTCATGAGGACCTCCG 0.542000 31 53 0 0 0.010818 0 0 PCDH10 57575 broad.mit.edu 37 4 134072451 134072451 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr4:134072451G>C ENST00000264360.5 + 1 1982 c.1156G>C c.(1156-1158)Gac>Cac p.D386H NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) GACTGACCGCGACTCAGAGGA 0.587000 29 70 0 0 0.006320 0 0 PPP6R3 55291 broad.mit.edu 37 11 68363617 68363617 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:68363617G>A ENST00000393799.2 + 19 2236 c.1969G>A c.(1969-1971)Gca>Aca p.A657T PPP6R3_ENST00000527403.2_Missense_Mutation_p.A622T|PPP6R3_ENST00000393800.2_Missense_Mutation_p.A657T|PPP6R3_ENST00000534534.1_Missense_Mutation_p.A425T|PPP6R3_ENST00000529710.1_Missense_Mutation_p.A577T|PPP6R3_ENST00000265637.4_Missense_Mutation_p.A611T|PPP6R3_ENST00000524904.1_Missense_Mutation_p.A651T|PPP6R3_ENST00000393801.3_Missense_Mutation_p.A657T|PPP6R3_ENST00000524845.1_Missense_Mutation_p.A628T|PPP6R3_ENST00000265636.5_Missense_Mutation_p.A577T Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 657 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 AGAAGATGGAGCAAAGCAAGA 0.463000 3 75 0 0 0.004672 0 0 RELN 5649 broad.mit.edu 37 7 103194142 103194142 + Missense_Mutation SNP G G C rs141509094 TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:103194142G>C ENST00000428762.1 - 39 6093 c.5934C>G c.(5932-5934)atC>atG p.I1978M RELN_ENST00000424685.2_Missense_Mutation_p.I1978M|RELN_ENST00000343529.5_Missense_Mutation_p.I1978M NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1978 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AATAAAGACCGATGTTACCAC 0.363000 14 24 0 0 0.003163 0 0 APPL2 55198 broad.mit.edu 37 12 105570747 105570747 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:105570747C>G ENST00000258530.3 - 19 1944 c.1719G>C c.(1717-1719)aaG>aaC p.K573N APPL2_ENST00000551662.1_Missense_Mutation_p.K579N|APPL2_ENST00000539978.2_Missense_Mutation_p.K530N NM_001251904.1|NM_018171.3 NP_001238833.1|NP_060641.2 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 573 PID. cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding p.K573N(1) breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 CAACCAGTCTCTTGTTTTCTT 0.398000 30 34 0 0 0.007291 0 0 TPO 7173 broad.mit.edu 37 2 1459852 1459852 + Missense_Mutation SNP G G T rs144088710 TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:1459852G>T ENST00000345913.4 + 7 708 c.617G>T c.(616-618)cGg>cTg p.R206L TPO_ENST00000329066.4_Missense_Mutation_p.R206L|TPO_ENST00000346956.3_Missense_Mutation_p.R206L|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.R206L|TPO_ENST00000337415.3_Missense_Mutation_p.R206L|TPO_ENST00000349624.3_Missense_Mutation_p.R206L|TPO_ENST00000382198.1_Missense_Mutation_p.R206L NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 206 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) ACCCAGGTCCGGGAGGTGACA 0.502000 4 19 0.000602214 0.000632011 0.000602 1 0 CCND3 896 broad.mit.edu 37 6 41908144 41908144 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:41908144G>C ENST00000511642.1 - 2 886 c.135C>G c.(133-135)atC>atG p.I45M CCND3_ENST00000372987.4_Missense_Mutation_p.I76M|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000415497.2_Intron|CCND3_ENST00000372991.4_Missense_Mutation_p.I126M|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000510503.1_Missense_Mutation_p.I45M|CCND3_ENST00000372988.4_Missense_Mutation_p.I45M P30281 CCND3_HUMAN cyclin D3 126 Cyclin N-terminal. cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 20 Colorectal(47;0.121) Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GGTCGGTGTAGATGCACAGTT 0.617000 T IGH@ MM 27 78 0 0 0.006320 0 0 DIS3 22894 broad.mit.edu 37 13 73334716 73334716 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr13:73334716G>A ENST00000377767.4 - 20 2844 c.2744C>T c.(2743-2745)tCa>tTa p.S915L DIS3_ENST00000377780.4_Missense_Mutation_p.S885L|DIS3_ENST00000545453.1_Missense_Mutation_p.S753L NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 915 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding p.S915L(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) AAGATTAGATGAGTCTAACAT 0.328000 Multiple Myeloma(4;0.011) 53 36 0 0 0.014410 0 0 EVI5L 115704 broad.mit.edu 37 19 7928478 7928478 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:7928478G>A ENST00000270530.4 + 19 2471 c.2275G>A c.(2275-2277)Gat>Aat p.D759N EVI5L_ENST00000538904.2_Missense_Mutation_p.D770N NM_145245.3 NP_660288.1 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like 759 intracellular protein binding|Rab GTPase activator activity breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 12 GTCCCCGCGCGATGCGCGCTT 0.687000 9 16 0 0 0.010729 0 0 TTLL10 254173 broad.mit.edu 37 1 1117193 1117193 + Missense_Mutation SNP G G T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:1117193G>T ENST00000379290.1 + 9 1001 c.828G>T c.(826-828)caG>caT p.Q276H TTLL10_ENST00000379288.3_Missense_Mutation_p.Q203H|TTLL10_ENST00000379289.1_Missense_Mutation_p.Q276H Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 276 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity 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) TCAGGCCACAGAGGTAGACTC 0.637000 10 13 2.52707e-12 2.72302e-12 0.006214 1 0 SUOX 6821 broad.mit.edu 37 12 56397462 56397462 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:56397462G>C ENST00000394109.3 + 3 1013 c.289G>C c.(289-291)Gag>Cag p.E97Q SUOX_ENST00000266971.3_Missense_Mutation_p.E97Q|SUOX_ENST00000548274.1_Missense_Mutation_p.E97Q|SUOX_ENST00000394115.2_Missense_Mutation_p.E97Q|SUOX_ENST00000356124.4_Missense_Mutation_p.E97Q|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000550478.1_3'UTR P51687 SUOX_HUMAN sulfite oxidase 97 Cytochrome b5 heme-binding. mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6) 15 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) CACCAGCCCTGAGACTGGGAT 0.512000 19 86 0 0 0.007413 0 0 UNC13C 440279 broad.mit.edu 37 15 54630580 54630580 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr15:54630580C>T ENST00000545554.1 + 16 4606 c.4606C>T c.(4606-4608)Cca>Tca p.P1536S UNC13C_ENST00000260323.11_Missense_Mutation_p.P1536S|UNC13C_ENST00000537900.1_Missense_Mutation_p.P1534S Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1536 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GCAAAGCCCCCCAAAAGCGAG 0.403000 53 35 0 0 0.014410 0 0 HSCB 150274 broad.mit.edu 37 22 29153094 29153094 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr22:29153094G>C ENST00000216027.3 + 6 710 c.645G>C c.(643-645)ttG>ttC p.L215F HSCB_ENST00000398941.2_3'UTR|HSCB_ENST00000495977.1_3'UTR NM_172002.3 NP_741999.3 Q8IWL3 HSC20_HUMAN HscB mitochondrial iron-sulfur cluster co-chaperone 215 iron-sulfur cluster assembly|protein folding mitochondrion chaperone binding|heat shock protein binding|metal ion binding kidney(1)|lung(2)|skin(1) 4 AGGAAATTTTGACAAAGATGA 0.323000 44 98 0 0 0.014410 0 0 HRH1 3269 broad.mit.edu 37 3 11301783 11301783 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:11301783G>A ENST00000397056.1 + 3 1251 c.1060G>A c.(1060-1062)Gat>Aat p.D354N HRH1_ENST00000431010.2_Missense_Mutation_p.D354N|HRH1_ENST00000438284.2_Missense_Mutation_p.D354N NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 354 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) GATGTTAGGTGATAGCCAATC 0.527000 35 49 0 0 0.013726 0 0 NBPF1 55672 broad.mit.edu 37 1 16890650 16890650 + Missense_Mutation SNP G G T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:16890650G>T ENST00000430580.2 - 29 4095 c.3208C>A c.(3208-3210)Cct>Act p.P1070T NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 1050 NBPF 7. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) AAGACTTCAGGCTCTTCCACT 0.468000 24 427 3.40343e-31 3.75776e-31 0.014410 1 0 PACRGL 133015 broad.mit.edu 37 4 20715142 20715142 + Silent SNP C C T rs139070230 byFrequency TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr4:20715142C>T ENST00000360916.5 + 7 980 c.589C>T c.(589-591)Ctg>Ttg p.L197L PACRGL_ENST00000538990.1_Silent_p.L99L|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000295290.8_Silent_p.L197L|PACRGL_ENST00000444671.2_Silent_p.L99L|PACRGL_ENST00000507634.1_Silent_p.L197L|PACRGL_ENST00000503585.1_Silent_p.L197L|PACRGL_ENST00000502374.1_Silent_p.L144L|PACRGL_ENST00000513459.1_Silent_p.L144L NM_145048.3 NP_659485.1 Q8N7B6 PACRL_HUMAN PARK2 co-regulated-like 197 binding endometrium(2)|lung(7)|prostate(1) 10 AAACGACCATCTGAAGCATCT 0.388000 21 39 0 0 0.008871 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713944 142713944 + RNA SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:142713944C>T ENST00000610091.1 - 0 1714 TGATTACCTCCGAAGTTAAAG 0.308000 6 36 0 0 0.003080 0 0 HSPG2 3339 broad.mit.edu 37 1 22178283 22178283 + Splice_Site SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:22178283C>T ENST00000374695.3 - 54 7086 c.e54+1 HSPG2_ENST00000430507.1_Splice_Site NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GCCCCACTCACGGTAGGCTAA 0.637000 33 39 0 0 0.003755 0 0 DENND4B 9909 broad.mit.edu 37 1 153902811 153902811 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:153902811C>T ENST00000361217.4 - 28 4871 c.4453G>A c.(4453-4455)Gac>Aac p.D1485N NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 1485 NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TTTCGGCAGTCAATGGCCTTG 0.547000 12 34 0 0 0.013537 0 0 PUS1 80324 broad.mit.edu 37 12 132426465 132426465 + Silent SNP G G C rs142637371 TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:132426465G>C ENST00000542167.2 + 4 1767 c.1014G>C c.(1012-1014)ctG>ctC p.L338L PUS1_ENST00000376649.3_Silent_p.L391L|PUS1_ENST00000443358.2_Silent_p.L363L|PUS1_ENST00000440818.2_Silent_p.L363L|PUS1_ENST00000535067.1_Intron Q9Y606 TRUA_HUMAN pseudouridylate synthase 1 391 mitochondrion pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 11 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07) CCCAGTGGCTGAGCACCTTGC 0.637000 33 24 0 0 0.012213 0 0 TNIK 23043 broad.mit.edu 37 3 170945999 170945999 + Silent SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:170945999G>C ENST00000436636.2 - 3 479 c.135C>G c.(133-135)gtC>gtG p.V45V TNIK_ENST00000341852.6_Silent_p.V45V|TNIK_ENST00000475336.1_Silent_p.V45V|TNIK_ENST00000460047.1_Silent_p.V45V|TNIK_ENST00000488470.1_Silent_p.V45V|TNIK_ENST00000284483.8_Silent_p.V45V|TNIK_ENST00000357327.5_Silent_p.V45V|TNIK_ENST00000369326.5_Silent_p.V45V|TNIK_ENST00000470834.1_Silent_p.V45V|TNIK_ENST00000538048.1_Silent_p.V45V NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 45 Protein kinase. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GGCCCGTTTTGACATGACGAC 0.383000 81 42 0 0 0.014410 0 0 PCDH12 51294 broad.mit.edu 37 5 141336156 141336156 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:141336156C>T ENST00000231484.3 - 1 2471 c.1261G>A c.(1261-1263)Gag>Aag p.E421K NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 421 Cadherin 4. neuron recognition integral to plasma membrane calcium ion binding 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) GGCCACTGCTCTCTGTCCAGT 0.498000 38 78 0 0 0.005524 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50403560 50403560 + Missense_Mutation SNP A A G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:50403560A>G ENST00000435965.1 - 33 2938 c.2765T>C c.(2764-2766)cTg>cCg p.L922P XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.L915P|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.L915P|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.L922P|XXcos-LUCA11.4_ENST00000606259.1_RNA|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.L915P|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.L923P|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.L846P|XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.L916P Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 2 922 energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) TGCCAGCATCAGGTTGGCATC 0.567000 3 92 0 0 0.004672 0 0 ZNF479 90827 broad.mit.edu 37 7 57188660 57188660 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:57188660G>A ENST00000331162.4 - 5 732 c.462C>T c.(460-462)aaC>aaT p.N154N NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 154 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.N154K(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) GAAATATTTTGTTTTGGGTAG 0.289000 21 49 0 0 0.003954 0 0 PDE4A 5141 broad.mit.edu 37 19 10561309 10561309 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:10561309C>T ENST00000380702.2 + 6 585 c.585C>T c.(583-585)gtC>gtT p.V195V PDE4A_ENST00000440014.2_Silent_p.V156V|PDE4A_ENST00000592685.1_Silent_p.V195V|PDE4A_ENST00000352831.6_Silent_p.V217V|PDE4A_ENST00000293683.5_Silent_p.V191V P27815 PDE4A_HUMAN phosphodiesterase 4A, cAMP-specific 217 signal transduction cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06) Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277) CCACCCCTGTCTGCAAGGCCA 0.672000 10 18 0 0 0.013537 0 0 SULF2 55959 broad.mit.edu 37 20 46313304 46313304 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:46313304C>T ENST00000359930.4 - 6 1610 c.759G>A c.(757-759)gcG>gcA p.A253A CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Silent_p.A253A|SULF2_ENST00000467815.1_Silent_p.A253A|SULF2_ENST00000484875.1_Silent_p.A253A NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 253 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 CCGGGTTGGGCGCGTAGTTGT 0.632000 8 46 0 0 0.003080 0 0 SSPO 23145 broad.mit.edu 37 7 149476138 149476138 + RNA SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:149476138G>C ENST00000378016.2 + 0 1016 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GAGCCAGGCGGAGGGCTGGCC 0.637000 12 23 0 0 0.013537 0 0 ZNF251 90987 broad.mit.edu 37 8 145947781 145947781 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr8:145947781C>T ENST00000292562.7 - 5 1539 c.1264G>A c.(1264-1266)Gaa>Aaa p.E422K ZNF251_ENST00000524394.1_Intron NM_138367.1 NP_612376.1 Q9BRH9 ZN251_HUMAN zinc finger protein 251 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) CTTACGTGTTCAGTAAGATGA 0.448000 58 68 0 0 0.014410 0 0 ZNF783 100289678 broad.mit.edu 37 7 148978677 148978677 + Missense_Mutation SNP G G T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:148978677G>T ENST00000434415.1 + 6 1047 c.884G>T c.(883-885)gGc>gTc p.G295V ZNF783_ENST00000489518.1_Intron NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 295 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) GTGTCCCGAGGCCAGACCGAG 0.652000 25 45 6.32553e-13 6.83429e-13 0.004656 1 0 PCDHB17P 54661 broad.mit.edu 37 5 140536855 140536855 + Silent SNP T T C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:140536855T>C ENST00000539533.1 + 1 1279 c.1279T>C c.(1279-1281)Ttg>Ctg p.L427L TGTCACAGACTTGGGGACACC 0.502000 15 38 0 0 0.002450 0 0 CD1A 909 broad.mit.edu 37 1 158227240 158227240 + Missense_Mutation SNP T T G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:158227240T>G ENST00000289429.5 + 5 1446 c.913T>G c.(913-915)Ttg>Gtg p.L305V NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 305 antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) CTTCATCATCTTGGCGGTGAT 0.458000 72 243 0 0 0.014410 0 0 LRRTM3 347731 broad.mit.edu 37 10 68686706 68686706 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:68686706G>A ENST00000361320.4 + 2 610 c.32G>A c.(31-33)gGa>gAa p.G11E CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 11 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 CTACTGAGCGGATCAGCTGTA 0.418000 13 29 0 0 0.004007 0 0 STAT4 6775 broad.mit.edu 37 2 191897696 191897696 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:191897696G>C ENST00000392320.2 - 21 2346 c.2032C>G c.(2032-2034)Cag>Gag p.Q678E STAT4_ENST00000358470.4_Missense_Mutation_p.Q678E NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 678 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) TCGCAAGGCTGAGAGCTGTAG 0.368000 11 37 0 0 0.010729 0 0 CYFIP2 26999 broad.mit.edu 37 5 156788517 156788517 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:156788517G>A ENST00000347377.6 + 26 3381 c.2950G>A c.(2950-2952)Gag>Aag p.E984K CYFIP2_ENST00000377576.3_Missense_Mutation_p.E984K|CYFIP2_ENST00000435847.2_Missense_Mutation_p.E683K|CYFIP2_ENST00000318218.6_Missense_Mutation_p.E1009K|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000522463.1_Missense_Mutation_p.E788K|CYFIP2_ENST00000521420.1_Missense_Mutation_p.E958K|CYFIP2_ENST00000541131.1_Missense_Mutation_p.E909K NM_001037332.2 NP_001032409.2 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 1009 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGACATCATTGAGTACGCAGA 0.542000 11 19 0 0 0.013537 0 0 CD84 8832 broad.mit.edu 37 1 160523264 160523264 + Missense_Mutation SNP G G C rs145496946 TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:160523264G>C ENST00000368054.3 - 4 699 c.664C>G c.(664-666)Cac>Gac p.H222D CD84_ENST00000368051.3_Missense_Mutation_p.H222D|RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000534968.1_Missense_Mutation_p.H108D|CD84_ENST00000311224.4_Missense_Mutation_p.H222D|CD84_ENST00000368048.3_Missense_Mutation_p.H222D NM_003874.3 NP_003865.1 Q9UIB8 SLAF5_HUMAN CD84 molecule 222 blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CCGGTGTGGTGAGTACGGAAG 0.488000 21 46 0 0 0.014323 0 0 POM121L12 285877 broad.mit.edu 37 7 53103750 53103750 + Missense_Mutation SNP A A G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:53103750A>G ENST00000408890.4 + 1 402 c.386A>G c.(385-387)aAc>aGc p.N129S NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 129 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CGTGCCTGGAACCCAGGACGG 0.711000 20 33 0 0 0.003330 0 0 GAS2L3 283431 broad.mit.edu 37 12 101017394 101017394 + Nonsense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:101017394C>T ENST00000537247.1 + 10 1453 c.499C>T c.(499-501)Caa>Taa p.Q167* GAS2L3_ENST00000266754.5_Nonsense_Mutation_p.Q271*|GAS2L3_ENST00000539410.1_Nonsense_Mutation_p.Q271*|GAS2L3_ENST00000547754.1_Nonsense_Mutation_p.Q271* Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 271 CH. cell cycle arrest endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 GGATACTCTTCAAGGATTTTT 0.378000 74 59 0 0 0.014410 0 0 RXRA 6256 broad.mit.edu 37 9 137293649 137293649 + Missense_Mutation SNP T T C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr9:137293649T>C ENST00000481739.1 + 2 252 c.200T>C c.(199-201)gTc>gCc p.V67A RXRA_ENST00000356384.4_3'UTR NM_002957.4 NP_002948.1 P19793 RXRA_HUMAN retinoid X receptor, alpha 67 Modulating (By similarity). cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) CCTTTCTCGGTCATCAGCTCC 0.692000 3 117 0 0 0.004672 0 0 SCAF1 58506 broad.mit.edu 37 19 50155955 50155955 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:50155955G>A ENST00000360565.3 + 7 2433 c.2309G>A c.(2308-2310)cGg>cAg p.R770Q NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 770 Ser-rich. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) GGGTCTCGTCGGAAGGCGCTG 0.706000 4 5 0 0 0.009096 0 0 DSP 1832 broad.mit.edu 37 6 7584100 7584100 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:7584100C>T ENST00000379802.3 + 24 6946 c.6605C>T c.(6604-6606)tCa>tTa p.S2202L DSP_ENST00000418664.2_Missense_Mutation_p.S1603L NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2202 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CTCTTGCTTTCAGTACAGAAG 0.458000 38 52 0 0 0.006999 0 0 SCAF11 9169 broad.mit.edu 37 12 46342235 46342235 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:46342235G>C ENST00000369367.3 - 5 616 c.383C>G c.(382-384)tCt>tGt p.S128C SCAF11_ENST00000419565.2_Missense_Mutation_p.S128C NM_004719.2 NP_004710.2 Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 128 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 ACAGCTTTTAGAATTTTCATG 0.313000 14 46 0 0 0.001855 0 0 MYF5 4617 broad.mit.edu 37 12 81111211 81111211 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:81111211C>T ENST00000228644.3 + 1 521 c.369C>T c.(367-369)atC>atT p.I123I NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 123 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 AGGTGGAGATCCTCAGGAATG 0.597000 22 134 0 0 0.002780 0 0 CYP46A1 10858 broad.mit.edu 37 14 100157465 100157465 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr14:100157465G>A ENST00000261835.3 + 2 271 c.167G>A c.(166-168)gGt>gAt p.G56D CYP46A1_ENST00000423126.2_5'UTR NM_006668.1 NP_006659.1 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46, subfamily A, polypeptide 1 56 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1) 25 Melanoma(154;0.0866)|all_epithelial(191;0.179) GATGAGGTTGGTGGCCGTGTG 0.493000 38 66 0 0 0.010771 0 0 HSPA1A 3303 broad.mit.edu 37 6 31783561 31783561 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:31783561G>A ENST00000375651.5 + 1 271 c.28G>A c.(28-30)Gac>Aac p.D10N HSPA1A_ENST00000608703.1_Missense_Mutation_p.D10N|HSPA1A_ENST00000458062.2_Missense_Mutation_p.D10N NM_005345.5 NP_005336.3 P08107 HSP71_HUMAN heat shock 70kDa protein 1A 10 anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding endometrium(1)|ovary(1)|stomach(1) 3 GATCGGCATCGACCTGGGCAC 0.647000 40 34 0 0 0.014410 0 0 TOB1 10140 broad.mit.edu 37 17 48940478 48940478 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:48940478G>A ENST00000499247.2 - 2 1334 c.901C>T c.(901-903)Ctc>Ttc p.L301F TOB1_ENST00000268957.3_Missense_Mutation_p.L301F NM_001243885.1|NM_005749.3 NP_001230814.1|NP_005740.1 P50616 TOB1_HUMAN transducer of ERBB2, 1 301 negative regulation of cell proliferation SH3/SH2 adaptor activity breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) CTGTACTGGAGAGGACTGAGG 0.413000 43 47 0 0 0.014410 0 0 BAI1 575 broad.mit.edu 37 8 143603352 143603352 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr8:143603352C>T ENST00000517894.1 + 21 3945 c.3051C>T c.(3049-3051)ttC>ttT p.F1017F BAI1_ENST00000323289.5_Silent_p.F1017F O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1017 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) TGGCCGCCTTCCTGCACTTCT 0.687000 3 14 0 0 0.004672 0 0 MTIF2 4528 broad.mit.edu 37 2 55464514 55464514 + Missense_Mutation SNP C C A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:55464514C>A ENST00000394600.3 - 16 2657 c.1921G>T c.(1921-1923)Gtt>Ttt p.V641F MTIF2_ENST00000263629.4_Missense_Mutation_p.V641F|MTIF2_ENST00000403721.1_Missense_Mutation_p.V641F NM_001005369.1 NP_001005369.1 P46199 IF2M_HUMAN mitochondrial translational initiation factor 2 641 regulation of translational initiation mitochondrion GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 24 GCCACAGGAACTTTTTTCTTC 0.373000 11 49 1.08611e-07 1.14882e-07 0.010729 1 0 ZNF548 147694 broad.mit.edu 37 19 57908503 57908503 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:57908503G>A ENST00000366197.5 + 2 353 c.103G>A c.(103-105)Gat>Aat p.D35N AC003002.6_ENST00000600421.1_3'UTR|AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.D47N|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000597400.1_Missense_Mutation_p.D47N|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000598895.1_Missense_Mutation_p.D47N NM_152909.3 NP_690873.2 Q8NEK5 ZN548_HUMAN zinc finger protein 548 35 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GCTGTACCGTGATGTGATGCT 0.532000 169 425 0 0 0.014410 0 0 STAB1 23166 broad.mit.edu 37 3 52547747 52547747 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:52547747G>C ENST00000321725.6 + 31 3361 c.3285G>C c.(3283-3285)caG>caC p.Q1095H NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1095 FAS1 3. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TCTGGGTGCAGAATGCCAGCG 0.597000 6 17 0 0 0.001168 0 0 SLC6A13 6540 broad.mit.edu 37 12 344379 344379 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:344379G>A ENST00000343164.4 - 7 760 c.708C>T c.(706-708)ttC>ttT p.F236F SLC6A13_ENST00000445055.2_Silent_p.F144F NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 236 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) ATGTGGCCGTGAAGTACACCA 0.567000 5 20 0 0 0.001984 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144874708 144874708 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:144874708C>G ENST00000369359.4 - 33 5346 c.5308G>C c.(5308-5310)Gag>Cag p.E1770Q PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1634Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1590Q|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E1634Q|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1770Q Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1634 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding 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) GCTTTCTTCTCTTCATAGTGT 0.517000 T PDGFRB MPD 36 314 0 0 0.005524 0 0 SAMD4B 55095 broad.mit.edu 37 19 39866385 39866385 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:39866385G>C ENST00000314471.6 + 7 1798 c.763G>C c.(763-765)Gag>Cag p.E255Q SAMD4B_ENST00000596368.1_Missense_Mutation_p.E255Q|SAMD4B_ENST00000598913.1_Missense_Mutation_p.E255Q NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 255 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) GAGTCCAGAGGAGCTTGGGGC 0.652000 166 173 0 0 0.014410 0 0 CERKL 375298 broad.mit.edu 37 2 182438553 182438553 + Missense_Mutation SNP T T A rs149505471 TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:182438553T>A ENST00000410087.3 - 3 640 c.540A>T c.(538-540)aaA>aaT p.K180N CERKL_ENST00000339098.5_Missense_Mutation_p.K180N|CERKL_ENST00000374969.2_Intron|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Intron|CERKL_ENST00000374970.2_Missense_Mutation_p.K180N NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 180 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) GGGTAGCTTCTTTTTTGTGAC 0.333000 19 34 0 0 0.012319 0 0 FOXB2 442425 broad.mit.edu 37 9 79634833 79634833 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr9:79634833C>T ENST00000376708.1 + 1 263 c.263C>T c.(262-264)gCg>gTg p.A88V NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 88 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter 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 activator activity|transcription factor binding breast(1)|lung(8)|ovary(1) 10 AGCTTCTGGGCGCTGCACCCC 0.642000 55 14 0 0 0.014410 0 0 AKAP9 10142 broad.mit.edu 37 7 91631551 91631551 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:91631551G>A ENST00000359028.2 + 9 2581 c.2356G>A c.(2356-2358)Gaa>Aaa p.E786K AKAP9_ENST00000356239.3_Missense_Mutation_p.E774K|AKAP9_ENST00000358100.2_Missense_Mutation_p.E786K Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 786 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TGCACAACTTGAAGCAGAGAA 0.303000 T BRAF papillary thyroid 12 68 0 0 0.013537 0 0 NIP7 51388 broad.mit.edu 37 16 69373430 69373430 + Translation_Start_Site SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr16:69373430G>A ENST00000254940.5 + 0 98 COG8_ENST00000562081.1_Missense_Mutation_p.S9L|COG8_ENST00000306875.4_Missense_Mutation_p.S9L|RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Intron NM_016101.4 NP_057185.1 Q9Y221 NIP7_HUMAN NIP7, nucleolar pre-rRNA processing protein ribosome assembly nucleolus protein binding|RNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 Ovarian(137;0.101) CGTGGCTACCGATGGGATAGT 0.652000 OREG0023907 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 4 0 0 0.008871 0 0 FGD5 152273 broad.mit.edu 37 3 14922086 14922086 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:14922086G>A ENST00000285046.5 + 3 2776 c.2666G>A c.(2665-2667)gGa>gAa p.G889E FGD5_ENST00000543601.1_Missense_Mutation_p.G648E NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 889 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 CAGGTGGAAGGACAGTCCAGA 0.527000 16 22 0 0 0.003163 0 0 INO80E 283899 broad.mit.edu 37 16 30007659 30007659 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr16:30007659G>C ENST00000563197.1 + 1 1045 c.28G>C c.(28-30)Gac>Cac p.D10H INO80E_ENST00000567254.1_Missense_Mutation_p.D10H|INO80E_ENST00000304516.7_Missense_Mutation_p.D10H|INO80E_ENST00000567705.1_Missense_Mutation_p.D10H|HIRIP3_ENST00000279392.3_5'UTR|INO80E_ENST00000563040.1_3'UTR NM_173618.1 NP_775889.1 Q8NBZ0 IN80E_HUMAN INO80 complex subunit E 10 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 6 CGGCGAAGTGGACTACAAAAA 0.652000 5 10 0 0 0.001168 0 0 CAPS2 84698 broad.mit.edu 37 12 75676043 75676043 + Nonsense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:75676043G>A ENST00000393284.3 - 16 1562 c.961C>T c.(961-963)Caa>Taa p.Q321* CAPS2_ENST00000442339.2_Nonsense_Mutation_p.Q143*|CAPS2_ENST00000409799.1_Nonsense_Mutation_p.Q471*|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409445.3_Nonsense_Mutation_p.Q553*|RP11-560G2.1_ENST00000549953.1_RNA Q9BXY5 CAYP2_HUMAN calcyphosine 2 553 calcium ion binding endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 10 GAAATTACTTGAGAATGCTTC 0.284000 21 106 0 0 0.010504 0 0 CST9L 128821 broad.mit.edu 37 20 23549013 23549013 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:23549013C>T ENST00000376979.3 - 1 373 c.75G>A c.(73-75)ctG>ctA p.L25L NM_080610.2 NP_542177.1 Q9H4G1 CST9L_HUMAN cystatin 9-like 25 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 8 Colorectal(13;0.0431)|Lung NSC(19;0.235) AGGCATAGATCAGCAGGATCT 0.567000 33 21 0 0 0.012213 0 0 BEND6 221336 broad.mit.edu 37 6 56880031 56880031 + Nonsense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:56880031G>A ENST00000370746.3 + 4 668 c.399G>A c.(397-399)tgG>tgA p.W133* BEND6_ENST00000545789.1_Nonsense_Mutation_p.W35*|BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000484701.1_3'UTR NM_152731.2 NP_689944.2 Q5SZJ8 BEND6_HUMAN BEN domain containing 6 133 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 17 CCACCCTCTGGAGAGCAACAA 0.478000 31 49 0 0 0.007291 0 0 GMDS 2762 broad.mit.edu 37 6 1726724 1726724 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:1726724C>T ENST00000380815.4 - 9 1182 c.913G>A c.(913-915)Gaa>Aaa p.E305K GMDS_ENST00000530927.1_Missense_Mutation_p.E275K NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 305 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) CTGCCCACTTCATTTTCATTC 0.493000 18 90 0 0 0.006122 0 0 UBE2O 63893 broad.mit.edu 37 17 74388108 74388108 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:74388108G>A ENST00000319380.7 - 16 3097 c.3033C>T c.(3031-3033)atC>atT p.I1011I NM_022066.3 NP_071349.3 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 1011 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 CGGCTGGGTAGATGTTGGGGA 0.592000 21 25 0 0 0.002780 0 0 FER1L6 654463 broad.mit.edu 37 8 125035748 125035748 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr8:125035748C>T ENST00000522917.1 + 18 2404 c.2198C>T c.(2197-2199)gCc>gTc p.A733V FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.A733V NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 733 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GTGGCCTATGCCCGCATCGCC 0.527000 4 100 0 0 0.001168 0 0 MCF2L2 23101 broad.mit.edu 37 3 183014889 183014889 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:183014889G>C ENST00000328913.3 - 12 1669 c.1372C>G c.(1372-1374)Cga>Gga p.R458G B3GNT5_ENST00000462559.1_3'UTR|MCF2L2_ENST00000473233.1_Missense_Mutation_p.R458G|MCF2L2_ENST00000447025.2_Missense_Mutation_p.R458G|MCF2L2_ENST00000414362.2_Missense_Mutation_p.R458G NM_015078.2 NP_055893 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 458 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) ACCCCTTCTCGAGACTGGCAC 0.517000 8 90 0 0 0.006214 0 0 CACNB1 782 broad.mit.edu 37 17 37331640 37331640 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:37331640G>A ENST00000394303.3 - 14 1810 c.1603C>T c.(1603-1605)Cct>Tct p.P535S RP5-906A24.2_ENST00000579256.1_RNA NM_000723.4 NP_000714.3 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 subunit 535 axon guidance voltage-gated calcium channel complex breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) CCCCCTGCAGGGTCTCCAAGC 0.657000 OREG0024371 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 66 357 0 0 0.014410 0 0 CHRNA10 57053 broad.mit.edu 37 11 3687403 3687403 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:3687403G>A ENST00000250699.2 - 5 1358 c.1287C>T c.(1285-1287)ttC>ttT p.F429F CHRNA10_ENST00000534359.1_3'UTR NM_020402.2 NP_065135.2 Q9GZZ6 ACH10_HUMAN cholinergic receptor, nicotinic, alpha 10 (neuronal) 429 elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic cell junction|postsynaptic membrane calcium channel activity|receptor activity|receptor binding breast(1)|endometrium(2)|lung(3)|ovary(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577) BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192) Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116) TGGCCAGGAAGAAGCGGTCCA 0.627000 49 20 0 0 0.014410 0 0 CAP1 10487 broad.mit.edu 37 1 40537148 40537148 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:40537148C>G ENST00000372797.3 + 13 1932 c.1371C>G c.(1369-1371)ttC>ttG p.F457L CAP1_ENST00000372802.1_Missense_Mutation_p.F456L|CAP1_ENST00000372792.2_Missense_Mutation_p.F457L|CAP1_ENST00000372798.1_Missense_Mutation_p.F456L|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000340450.3_Missense_Mutation_p.F456L|CAP1_ENST00000372805.3_Missense_Mutation_p.F457L NM_001105530.1|NM_006367.3 NP_001099000|NP_006358 Q01518 CAP1_HUMAN CAP, adenylate cyclase-associated protein 1 (yeast) 457 activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction plasma membrane actin binding endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTGAGCAGTTCAAGACCCTAT 0.473000 18 11 0 0 0.007413 0 0 DBX1 120237 broad.mit.edu 37 11 20181520 20181520 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:20181520G>A ENST00000524983.2 - 1 639 c.351C>T c.(349-351)tcC>tcT p.S117S DBX1_ENST00000227256.3_Silent_p.S117S A6NMT0 DBX1_HUMAN developing brain homeobox 1 117 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2) 21 TGGGCCCCGAGGAGAGGATGG 0.642000 4 20 0 0 0.009096 0 0 FRAS1 80144 broad.mit.edu 37 4 79360104 79360104 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr4:79360104C>G ENST00000264895.6 + 40 5855 c.5415C>G c.(5413-5415)ttC>ttG p.F1805L FRAS1_ENST00000325942.6_Missense_Mutation_p.F1805L NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1804 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CTGATAGCTTCTATTTCTCTG 0.388000 23 91 0 0 0.002780 0 0 CABIN1 23523 broad.mit.edu 37 22 24472152 24472152 + Silent SNP C C A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr22:24472152C>A ENST00000398319.2 + 19 3052 c.2667C>A c.(2665-2667)ctC>ctA p.L889L CABIN1_ENST00000263119.5_Silent_p.L889L|CABIN1_ENST00000405822.2_Silent_p.L839L NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 889 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CATCCTCCCTCATGCTGCTGA 0.587000 26 96 6.38683e-12 6.86371e-12 0.008361 1 0 PRKAA2 5563 broad.mit.edu 37 1 57171852 57171852 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:57171852G>A ENST00000371244.4 + 8 1447 c.1381G>A c.(1381-1383)Gat>Aat p.D461N NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 461 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding p.D461N(1) breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 TTACCTGGTTGATAACAGGAG 0.378000 30 38 0 0 0.009535 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 4 40 0 0 0.009096 0 0 SEC31B 25956 broad.mit.edu 37 10 102249108 102249108 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:102249108C>T ENST00000370345.3 - 23 3169 c.3072G>A c.(3070-3072)atG>atA p.M1024I NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 1024 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) GGGTGAGGCTCATAACTGGAG 0.537000 22 37 0 0 0.014323 0 0 SNAI1 6615 broad.mit.edu 37 20 48604577 48604577 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:48604577C>T ENST00000244050.2 + 3 840 c.779C>T c.(778-780)tCa>tTa p.S260L NM_005985.3 NP_005976.2 O95863 SNAI1_HUMAN snail family zinc finger 1 260 epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2) 17 BRCA - Breast invasive adenocarcinoma(9;4.03e-06) TCCGGCTGCTCAGGATGTCCC 0.617000 37 33 0 0 0.005524 0 0 TUBB3 10381 broad.mit.edu 37 16 90001896 90001896 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr16:90001896C>T ENST00000304984.5 + 3 3116 c.821C>T c.(820-822)cCc>cTc p.P274L TUBB3_ENST00000315491.7_Missense_Mutation_p.P346L|TUBB3_ENST00000554444.1_Missense_Mutation_p.P274L|TUBB3_ENST00000556922.1_Missense_Mutation_p.P693L|TUBB3_ENST00000555576.1_Intron Q13509 TBB3_HUMAN tubulin, beta 3 class III 346 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) GAGTGGATCCCCAACAACGTG 0.612000 139 60 0 0 0.014410 0 0 KIAA1522 57648 broad.mit.edu 37 1 33236757 33236757 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:33236757C>T ENST00000401073.2 + 6 2047 c.1977C>T c.(1975-1977)gtC>gtT p.V659V KIAA1522_ENST00000373481.3_Silent_p.V611V|KIAA1522_ENST00000373480.1_Silent_p.V600V|KIAA1522_ENST00000294521.3_Intron NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 600 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) ACAGGTTTGTCATACCTCCTC 0.632000 68 77 0 0 0.014410 0 0 KCNC4 3749 broad.mit.edu 37 1 110775579 110775579 + Silent SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:110775579C>G ENST00000438661.2 + 4 1866 c.1866C>G c.(1864-1866)gtC>gtG p.V622V KCNC4_ENST00000413138.3_3'UTR|KCNC4_ENST00000369787.3_3'UTR|KCNC4_ENST00000412512.2_Intron NM_001039574.2 NP_001034663.1 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 0 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) AGGCTGAAGTCCTCACCCTCT 0.537000 5 12 0 0 0.000602 0 0 RBP1 5947 broad.mit.edu 37 3 139258320 139258320 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:139258320C>T ENST00000483943.2 - 1 241 c.241G>A c.(241-243)Gag>Aag p.E81K RBP1_ENST00000492918.1_Missense_Mutation_p.E81K|RBP1_ENST00000232219.2_Missense_Mutation_p.E81K|RP11-319G6.1_ENST00000515247.1_RNA NM_001130993.1 NP_001124465.1 P09455 RET1_HUMAN retinol binding protein 1, cellular 19 cytoplasm retinal binding|retinol binding|transporter activity endometrium(1)|large_intestine(2)|lung(1)|prostate(1) 5 Vitamin A(DB00162) CGCAGGTACTCCTCGAAATTC 0.677000 11 8 0 0 0.013537 0 0 RPA3 6119 broad.mit.edu 37 7 7678739 7678739 + Nonsense_Mutation SNP C C A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:7678739C>A ENST00000223129.4 - 6 1307 c.136G>T c.(136-138)Gga>Tga p.G46* RPA3_ENST00000401447.1_Nonsense_Mutation_p.G7*|RPA3_ENST00000406109.1_Nonsense_Mutation_p.G7*|RPA3_ENST00000396682.2_Nonsense_Mutation_p.G46* NM_002947.3 NP_002938.1 P35244 RFA3_HUMAN replication protein A3, 14kDa 46 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair cytoplasm|DNA replication factor A complex|nucleoplasm protein binding|single-stranded DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.202) TTTCCTTCTCCATCTGAAAGA 0.299000 Direct reversal of damage;Nucleotide excision repair (NER) 6 39 1.06961e-07 1.13435e-07 0.003080 1 0 NBPF1 55672 broad.mit.edu 37 1 16890565 16890565 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:16890565C>T ENST00000430580.2 - 29 4180 c.3293G>A c.(3292-3294)aGa>aAa p.R1098K NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 1078 NBPF 7. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) AAACACACTTCTGTAGTGCTG 0.453000 115 860 0 0 0.014410 0 0 LYSMD1 388695 broad.mit.edu 37 1 151137595 151137595 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:151137595C>T ENST00000368908.5 - 1 800 c.140G>A c.(139-141)gGa>gAa p.G47E LYSMD1_ENST00000440902.2_Intron NM_212551.4 NP_997716.1 Q96S90 LYSM1_HUMAN LysM, putative peptidoglycan-binding, domain containing 1 47 cell wall macromolecule catabolic process endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 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) CAGGGTGTCTCCGGGCTCCAA 0.562000 26 27 0 0 0.004656 0 0 CYP1B1 1545 broad.mit.edu 37 2 38301609 38301609 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:38301609G>A ENST00000260630.3 - 2 1324 c.923C>T c.(922-924)tCg>tTg p.S308L CYP1B1_ENST00000407341.1_Missense_Mutation_p.S308L|CYP1B1_ENST00000494864.1_Intron NM_000104.3 NP_000095 Q16678 CP1B1_HUMAN cytochrome P450, family 1, subfamily B, polypeptide 1 308 visual perception|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 13 all_hematologic(82;0.21) Estrone(DB00655) ACCACCGTGCGAGTCCCCGGC 0.652000 20 27 0 0 0.010504 0 0 PRKD2 25865 broad.mit.edu 37 19 47219391 47219391 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:47219391C>T ENST00000433867.1 - 2 714 c.237G>A c.(235-237)caG>caA p.Q79Q PRKD2_ENST00000291281.4_Silent_p.Q79Q|PRKD2_ENST00000595515.1_Silent_p.Q79Q|PRKD2_ENST00000601806.1_5'UTR NM_001079880.1|NM_001079881.1|NM_016457.4 NP_001073349|NP_001073350|NP_057541 Q9BZL6 KPCD2_HUMAN protein kinase D2 79 cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) CCCTCACCTTCTGGTCCACGA 0.657000 50 43 0 0 0.014410 0 0 CXCL14 9547 broad.mit.edu 37 5 134910273 134910273 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:134910273G>A ENST00000337225.5 - 3 773 c.309C>T c.(307-309)aaC>aaT p.N103N CXCL14_ENST00000512158.1_Silent_p.N91N|CTC-321K16.1_ENST00000509372.1_RNA NM_004887.4 NP_004878.2 O95715 CXL14_HUMAN chemokine (C-X-C motif) ligand 14 103 cell-cell signaling|chemotaxis|immune response|signal transduction extracellular space|Golgi apparatus chemokine activity large_intestine(2)|lung(2)|prostate(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TGCGCTTCTCGTTCCAGGCGT 0.617000 9 20 0 0 0.006214 0 0 GOLPH3L 55204 broad.mit.edu 37 1 150621093 150621093 + Missense_Mutation SNP G G T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:150621093G>T ENST00000271732.3 - 5 606 c.562C>A c.(562-564)Cat>Aat p.H188N GOLPH3L_ENST00000540514.1_Missense_Mutation_p.H144N NM_018178.5 NP_060648.2 Q9H4A5 GLP3L_HUMAN golgi phosphoprotein 3-like 188 Golgi cisterna membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 8 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) GTCACTGGATGAGTAGTCATG 0.443000 9 39 5.68852e-11 6.08084e-11 0.004482 1 0 PSMB5 5693 broad.mit.edu 37 14 23502856 23502856 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr14:23502856C>G ENST00000361611.6 - 2 489 c.226G>C c.(226-228)Gac>Cac p.D76H PSMB5_ENST00000460922.2_Intron|PSMB5_ENST00000493471.2_Missense_Mutation_p.D76H|PSMB5_ENST00000425762.2_5'UTR NM_002797.3 NP_002788.1 P28074 PSB5_HUMAN proteasome (prosome, macropain) subunit, beta type, 5 76 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus protein binding|threonine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 7 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0121) Bortezomib(DB00188) GCCCTGGAGTCAGCTGCAACT 0.507000 14 27 0 0 0.003163 0 0 PZP 5858 broad.mit.edu 37 12 9346775 9346775 + Silent SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:9346775C>G ENST00000261336.2 - 11 1180 c.1152G>C c.(1150-1152)gtG>gtC p.V384V PZP_ENST00000381997.2_Silent_p.V253V NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TGGCGTCATTCACAGAGATGA 0.408000 20 38 0 0 0.010504 0 0 HIST1H3B 8358 broad.mit.edu 37 6 26031997 26031997 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:26031997C>T ENST00000244661.2 - 1 291 c.292G>A c.(292-294)Gag>Aag p.E98K NM_003537.3 NP_003528.1 P68431 H31_HUMAN histone cluster 1, H3b 98 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 25 AAGTAGGCCTCACAAGCCTCC 0.567000 21 65 0 0 0.008871 0 0 NOP56 10528 broad.mit.edu 37 20 2635517 2635517 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:2635517G>C ENST00000329276.5 + 5 1009 c.493G>C c.(493-495)Gac>Cac p.D165H NM_006392.3 NP_006383.2 O00567 NOP56_HUMAN NOP56 ribonucleoprotein 165 rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 GAACCGGGTGGACAATATGAT 0.502000 132 120 0 0 0.014410 0 0 LRP1 4035 broad.mit.edu 37 12 57579595 57579595 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:57579595C>T ENST00000243077.3 + 41 7211 c.6745C>T c.(6745-6747)Ccg>Tcg p.P2249S NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2249 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AGGCACCTCTCCGGGCACCCC 0.577000 47 44 0 0 0.014410 0 0 CBX4 8535 broad.mit.edu 37 17 77808594 77808594 + Nonsense_Mutation SNP C C A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:77808594C>A ENST00000269397.4 - 5 1024 c.847G>T c.(847-849)Gag>Tag p.E283* NM_003655.2 NP_003646.2 O00257 CBX4_HUMAN chromobox homolog 4 283 Interaction with BMI1. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) TCTGCCACCTCGCCGGACTTG 0.592000 OREG0024799 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 75 103 3.25985e-27 3.5894e-27 0.014410 1 0 CHRM3 1131 broad.mit.edu 37 1 240071762 240071762 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:240071762G>C ENST00000255380.4 + 5 1790 c.1011G>C c.(1009-1011)tgG>tgC p.W337C NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 337 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) GTGACAGTTGGAACAACAATG 0.572000 7 13 0 0 0.001984 0 0 PUS1 80324 broad.mit.edu 37 12 132426135 132426135 + Silent SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:132426135G>C ENST00000542167.2 + 4 1437 c.684G>C c.(682-684)gtG>gtC p.V228V PUS1_ENST00000376649.3_Silent_p.V281V|PUS1_ENST00000443358.2_Silent_p.V253V|PUS1_ENST00000440818.2_Silent_p.V253V|PUS1_ENST00000535067.1_Intron Q9Y606 TRUA_HUMAN pseudouridylate synthase 1 281 mitochondrion pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 11 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07) AGTTTGCGGTGATCAGGGTGA 0.607000 60 56 0 0 0.014410 0 0 IGHV4-61 28391 broad.mit.edu 37 14 107095343 107095343 + RNA SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr14:107095343C>T ENST00000390630.2 - 0 237 GCTGACGGAGCCACCAGAGAC 0.607000 2 0 0 0 0.004672 0 0 CHRM3 1131 broad.mit.edu 37 1 240071792 240071792 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:240071792G>A ENST00000255380.4 + 5 1820 c.1041G>A c.(1039-1041)gaG>gaA p.E347E NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 347 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CCTCCCTGGAGAACTCCGCCT 0.572000 5 9 0 0 0.001168 0 0 C1QB 713 broad.mit.edu 37 1 22987517 22987517 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:22987517C>T ENST00000509305.1 + 3 740 c.394C>T c.(394-396)Ctg>Ttg p.L132L C1QB_ENST00000314933.6_Silent_p.L134L P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 134 C1q. complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CAACGTCCCCCTGCGCCGGGA 0.602000 23 84 0 0 0.014323 0 0 ACTN2 88 broad.mit.edu 37 1 236908062 236908062 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:236908062C>T ENST00000366578.4 + 12 1558 c.1392C>T c.(1390-1392)atC>atT p.I464I ACTN2_ENST00000542672.1_Silent_p.I464I|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_5'UTR NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 464 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TCGCAGCCATCGCGCAGGAGC 0.657000 16 37 0 0 0.004990 0 0 SOAT1 6646 broad.mit.edu 37 1 179320465 179320465 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:179320465C>G ENST00000367619.3 + 15 1607 c.1464C>G c.(1462-1464)ttC>ttG p.F488L SOAT1_ENST00000535686.1_Missense_Mutation_p.F224L|SOAT1_ENST00000540564.1_Missense_Mutation_p.F430L|SOAT1_ENST00000539888.1_Missense_Mutation_p.F423L NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 488 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) CTTTCAACTTCATTGTCAATG 0.408000 39 97 0 0 0.008740 0 0 GPRC5C 55890 broad.mit.edu 37 17 72436224 72436224 + Silent SNP C C T rs148101331 TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:72436224C>T ENST00000392627.1 + 2 1570 c.444C>T c.(442-444)ctC>ctT p.L148L GPRC5C_ENST00000342648.5_Intron|GPRC5C_ENST00000392629.2_Silent_p.L115L|GPRC5C_ENST00000481232.1_Intron NM_022036.2 NP_071319.2 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor, family C, group 5, member C 103 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 TCTTCTGCCTCGTGTTTGCCT 0.607000 38 69 0 0 0.006230 0 0 FAT3 120114 broad.mit.edu 37 11 92539552 92539552 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:92539552G>A ENST00000298047.6 + 11 9135 c.9118G>A c.(9118-9120)Gaa>Aaa p.E3040K FAT3_ENST00000409404.2_Missense_Mutation_p.E3040K|FAT3_ENST00000525166.1_Missense_Mutation_p.E2890K Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3040 Cadherin 28. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATTACTTCCTGAAGACATTCC 0.358000 TCGA Ovarian(4;0.039) 11 5 0 0 0.008291 0 0 ZNF536 9745 broad.mit.edu 37 19 31039401 31039401 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:31039401C>G ENST00000355537.3 + 4 3022 c.2875C>G c.(2875-2877)Ccc>Gcc p.P959A NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 959 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding 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) TGAGGAGAAACCCAGTGGCAA 0.577000 9 185 0 0 0.004482 0 0 BIRC6 57448 broad.mit.edu 37 2 32626615 32626615 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:32626615G>A ENST00000421745.2 + 8 1476 c.1342G>A c.(1342-1344)Gat>Aat p.D448N NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 448 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) CTCAGGAGTTGATTCAAGGAG 0.398000 42 51 0 0 0.006230 0 0 MVK 4598 broad.mit.edu 37 12 110024578 110024578 + Silent SNP T T C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:110024578T>C ENST00000228510.3 + 7 727 c.651T>C c.(649-651)caT>caC p.H217H MVK_ENST00000539696.1_Intron|MVK_ENST00000539575.1_Silent_p.H165H|MVK_ENST00000392727.3_Silent_p.H165H|MVK_ENST00000541384.1_Silent_p.H23H NM_000431.2|NM_001114185.1 NP_000422.1|NP_001107657.1 Q03426 KIME_HUMAN mevalonate kinase 217 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|peroxisome ATP binding|identical protein binding|mevalonate kinase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 8 TCCGATACCATCAAGGGAAGA 0.507000 7 124 0 0 0.003080 0 0 POLR3A 11128 broad.mit.edu 37 10 79740028 79740028 + Nonsense_Mutation SNP C C A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:79740028C>A ENST00000372371.3 - 30 4032 c.3895G>T c.(3895-3897)Gaa>Taa p.E1299* NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 1299 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) CCCAGGACTTCACCCTGCGTC 0.517000 16 22 1.15088e-07 1.21415e-07 0.004007 1 0 FRG1B 284802 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 6 103 0 0 0.004482 0 0 SPEN 23013 broad.mit.edu 37 1 16258553 16258553 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:16258553G>A ENST00000375759.3 + 11 6022 c.5818G>A c.(5818-5820)Gag>Aag p.E1940K NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1940 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AGAGCTTCAGGAGGCTGCAGC 0.587000 18 73 0 0 0.010504 0 0 DOCK8 81704 broad.mit.edu 37 9 463637 463637 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr9:463637G>A ENST00000432829.2 + 47 6301 c.5985G>A c.(5983-5985)cgG>cgA p.R1995R RP11-165F24.3_ENST00000415004.2_RNA|RP11-165F24.3_ENST00000586805.1_RNA|RP11-165F24.3_ENST00000593137.1_RNA|DOCK8_ENST00000453981.1_Silent_p.R2063R|RP11-165F24.3_ENST00000591577.1_RNA|RP11-165F24.3_ENST00000589387.1_RNA|RP11-165F24.3_ENST00000588989.1_RNA|DOCK8_ENST00000382329.1_Silent_p.R1530R|RP11-165F24.3_ENST00000608617.1_RNA|RP11-165F24.3_ENST00000588474.1_RNA|DOCK8_ENST00000469391.1_Silent_p.R1963R|RP11-165F24.3_ENST00000590518.1_RNA|RP11-165F24.3_ENST00000592805.1_RNA|RP11-165F24.3_ENST00000589287.1_RNA|RP11-165F24.3_ENST00000585819.1_RNA NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 2063 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TGATCGAGCGGAAAATTCCAG 0.458000 5 61 0 0 0.010729 0 0 GNB1L 54584 broad.mit.edu 37 22 19794230 19794230 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr22:19794230C>T ENST00000329517.6 - 6 704 c.468G>A c.(466-468)ccG>ccA p.P156P GNB1L_ENST00000405009.1_Silent_p.P156P|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000403325.1_Silent_p.P156P NM_053004.2 NP_443730.1 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 1-like 156 G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 12 Colorectal(54;0.0993) CATCTGCCTTCGGCTTCAGGG 0.622000 29 35 0 0 0.003755 0 0 NCOR1P1 149934 broad.mit.edu 37 20 26084238 26084238 + RNA SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:26084238G>C ENST00000478176.1 - 0 219 NR_003678.1 GAAGCATTTTGATCATCTCCA 0.393000 27 37 0 0 0.004656 0 0 TMEM150B 284417 broad.mit.edu 37 19 55824272 55824272 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:55824272G>A ENST00000326652.4 - 8 839 c.657C>T c.(655-657)ctC>ctT p.L219L TMEM150B_ENST00000438693.1_Silent_p.L219L NM_001282011.1 NP_001268940.1 A6NC51 T150B_HUMAN transmembrane protein 150B 219 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 GCGGGGGGCTGAGGCTGGGCC 0.672000 7 13 0 0 0.004482 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564329 176564329 + Missense_Mutation SNP T T C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:176564329T>C ENST00000367662.3 + 3 2753 c.1589T>C c.(1588-1590)gTg>gCg p.V530A PAPPA2_ENST00000367661.3_Missense_Mutation_p.V530A NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 530 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TACCAGGTGGTGAACATCTGT 0.527000 19 28 0 0 0.007413 0 0 RANBP6 26953 broad.mit.edu 37 9 6015339 6015339 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr9:6015339G>C ENST00000259569.5 - 1 279 c.269C>G c.(268-270)cCt>cGt p.P90R RANBP6_ENST00000485372.1_Intron NM_001243202.1|NM_001243203.1|NM_012416.3 NP_001230131.1|NP_001230132.1|NP_036548.1 O60518 RNBP6_HUMAN RAN binding protein 6 90 protein transport cytoplasm|nucleus binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) AACATCAGCAGGCAGATTTGG 0.433000 41 97 0 0 0.008740 0 0 WBSCR28 135886 broad.mit.edu 37 7 73275587 73275587 + Silent SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:73275587C>G ENST00000320531.2 + 1 99 c.63C>G c.(61-63)ctC>ctG p.L21L NM_182504.3 NP_872310.2 Q6UE05 WBS28_HUMAN Williams-Beuren syndrome chromosome region 28 21 integral to membrane breast(2)|kidney(2)|lung(6)|skin(1) 11 Lung NSC(55;0.159) TTACGAGGCTCTCAGTGCTGG 0.642000 12 20 0 0 0.010729 0 0 PIK3R1 5295 broad.mit.edu 37 5 67576548 67576548 + Nonsense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:67576548C>G ENST00000521381.1 + 6 1443 c.827C>G c.(826-828)tCa>tGa p.S276* PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.S276*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.S276*|PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.S276* NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 276 Rho-GAP. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) TTCAGATTCTCAGCAGCCAGG 0.383000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 11 31 0 0 0.008291 0 0 GIGYF1 64599 broad.mit.edu 37 7 100285422 100285422 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:100285422C>T ENST00000275732.5 - 3 1459 c.250G>A c.(250-252)Gag>Aag p.E84K GIGYF1_ENST00000471340.2_5'UTR NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 84 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TGTTCCTCCTCAGTCAGCGGC 0.687000 23 62 0 0 0.005443 0 0 SH3GL1 6455 broad.mit.edu 37 19 4364106 4364106 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:4364106C>T ENST00000269886.3 - 5 622 c.444G>A c.(442-444)gaG>gaA p.E148E SH3GL1_ENST00000598564.1_Silent_p.E84E|SH3GL1_ENST00000417295.2_Silent_p.E100E|AC007292.6_ENST00000594444.1_RNA NM_003025.3 NP_003016.1 Q99961 SH3G1_HUMAN SH3-domain GRB2-like 1 148 BAR. central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) TCAGGTCTTTCTCGCACAGGT 0.632000 T MLL AL 23 15 0 0 0.003330 0 0 DST 667 broad.mit.edu 37 6 56473196 56473196 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:56473196G>C ENST00000370754.5 - 39 6130 c.6131C>G c.(6130-6132)tCt>tGt p.S2044C DST_ENST00000312431.6_Missense_Mutation_p.S1866C|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Missense_Mutation_p.S1866C|DST_ENST00000361203.3_Missense_Mutation_p.S1866C|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.S1540C Q03001 DYST_HUMAN dystonin 1866 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity p.S1866F(1) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TATTTCACCAGAATGGGGCCA 0.428000 33 79 0 0 0.009535 0 0 BTN1A1 696 broad.mit.edu 37 6 26501534 26501534 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:26501534C>G ENST00000244513.6 + 1 86 c.20C>G c.(19-21)tCc>tGc p.S7C NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 7 extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 TTCCCAAGCTCCGGTCTCCCC 0.522000 40 55 0 0 0.010771 0 0 TPP2 7174 broad.mit.edu 37 13 103301811 103301811 + Nonsense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr13:103301811C>G ENST00000376052.3 + 23 2943 c.2927C>G c.(2926-2928)tCa>tGa p.S976* TPP2_ENST00000376065.4_Nonsense_Mutation_p.S976* P29144 TPP2_HUMAN tripeptidyl peptidase II 976 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTAACATTGTCAAAGACTGAA 0.303000 12 72 0 0 0.004007 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367724 145367724 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:145367724G>C ENST00000342960.5 + 83 10355 c.10320G>C c.(10318-10320)aaG>aaC p.K3440N NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3440 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AAATTGAAaagaaggggaagg 0.428000 14 125 0 0 0.004990 0 0 FGD5 152273 broad.mit.edu 37 3 14964612 14964612 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr3:14964612G>A ENST00000285046.5 + 16 3977 c.3867G>A c.(3865-3867)atG>atA p.M1289I FGD5_ENST00000543601.1_Missense_Mutation_p.M1048I|FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000476851.1_3'UTR NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1289 M -> T (in Ref. 5; CAE45896). actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 AGGACAGGATGGCCAAGGTCT 0.607000 31 50 0 0 0.009535 0 0 TMEM145 284339 broad.mit.edu 37 19 42827851 42827851 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:42827851C>T ENST00000301204.3 + 14 1352 c.1311C>T c.(1309-1311)ttC>ttT p.F437F NM_173633.2 NP_775904.2 Q8NBT3 TM145_HUMAN transmembrane protein 145 437 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) ACAAGGCCTTCCCGCAGCACG 0.642000 56 75 0 0 0.014410 0 0 ACOT13 55856 broad.mit.edu 37 6 24701842 24701842 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:24701842G>A ENST00000537591.1 + 4 940 c.353G>A c.(352-354)tGa>tAa p.*118* RP1-30M3.5_ENST00000607014.1_RNA|ACOT13_ENST00000230048.4_Silent_p.*141*|ACOT13_ENST00000476436.1_3'UTR NM_001160094.1 NP_001153566.1 Q9NPJ3 ACO13_HUMAN acyl-CoA thioesterase 13 0 protein homotetramerization mitochondrion acyl-CoA thioesterase activity large_intestine(1) 1 CTGGGAAACTGAGAGAACAGC 0.363000 44 49 0 0 0.011902 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48906488 48906488 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:48906488G>A ENST00000394754.1 + 11 3570 c.3456G>A c.(3454-3456)aaG>aaA p.K1152K STON1-GTF2A1L_ENST00000394751.3_Silent_p.K1105K|GTF2A1L_ENST00000430487.2_Silent_p.K414K|STON1-GTF2A1L_ENST00000405008.1_Silent_p.K1152K|GTF2A1L_ENST00000403751.3_Silent_p.K448K|STON1-GTF2A1L_ENST00000309827.2_Silent_p.K1152K|STON1-GTF2A1L_ENST00000402114.2_Intron NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 1105 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ATCGAAGCAAGAACAAATGGA 0.353000 29 35 0 0 0.005443 0 0 OR10G2 26534 broad.mit.edu 37 14 22102306 22102306 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr14:22102306C>T ENST00000542433.1 - 1 790 c.693G>A c.(691-693)ctG>ctA p.L231L NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) TGCGTATCTTCAGGATGGCAT 0.532000 18 24 0 0 0.006122 0 0 C19orf45 374877 broad.mit.edu 37 19 7565879 7565879 + Silent SNP G G T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:7565879G>T ENST00000361664.2 + 2 312 c.171G>T c.(169-171)ccG>ccT p.P57P NM_198534.2 NP_940936.2 Q8NA69 CS045_HUMAN chromosome 19 open reading frame 45 57 endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1) 8 GGGAGCCGCCGAGCCTGCAGC 0.736000 7 7 0.00198382 0.00207657 0.001984 1 0 HIF1A 3091 broad.mit.edu 37 14 62207727 62207727 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr14:62207727G>A ENST00000394997.1 + 12 2182 c.1917G>A c.(1915-1917)ttG>ttA p.L639L HIF1A_ENST00000323441.6_Silent_p.L638L|HIF1A_ENST00000337138.4_Silent_p.L638L|HIF1A_ENST00000539097.1_Silent_p.L662L|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000557538.1_Silent_p.L579L Q16665 HIF1A_HUMAN hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) 638 ID. cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production cytoplasm|nucleolus|transcription factor complex histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4) 23 OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189) TTAAAATATTGATTGCATCTC 0.408000 27 28 0 0 0.005443 0 0 UTRN 7402 broad.mit.edu 37 6 144860468 144860468 + Silent SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:144860468C>G ENST00000367545.3 + 44 6408 c.6408C>G c.(6406-6408)ctC>ctG p.L2136L NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 2136 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CTGAAAAACTCAAATGGCTGA 0.348000 13 32 0 0 0.013537 0 0 DCAKD 79877 broad.mit.edu 37 17 43112207 43112207 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:43112207G>A ENST00000452796.2 - 1 302 c.47C>T c.(46-48)tCa>tTa p.S16L DCAKD_ENST00000342350.5_Missense_Mutation_p.S16L|DCAKD_ENST00000588295.1_5'UTR|DCAKD_ENST00000310604.4_Missense_Mutation_p.S16L|DCAKD_ENST00000588499.1_Missense_Mutation_p.S16L Q8WVC6 DCAKD_HUMAN dephospho-CoA kinase domain containing 16 DPCK. coenzyme A biosynthetic process ATP binding|dephospho-CoA kinase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1) 6 Prostate(33;0.155) CTGGATCACTGAGCTCTTGCC 0.612000 8 46 0 0 0.004482 0 0 TTN 7273 broad.mit.edu 37 2 179424596 179424596 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:179424596C>T ENST00000589042.1 - 326 86487 c.86263G>A c.(86263-86265)Gat>Aat p.D28755N TTN_ENST00000460472.2_Missense_Mutation_p.D19690N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D19815N|TTN_ENST00000342992.6_Missense_Mutation_p.D26187N|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D27114N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D19882N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27114 Fibronectin type-III 109. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGTCAATATCAAATAAAGGT 0.433000 32 63 0 0 0.012213 0 0 SLC12A4 6560 broad.mit.edu 37 16 67986272 67986272 + Silent SNP C C A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr16:67986272C>A ENST00000422611.2 - 6 777 c.738G>T c.(736-738)tcG>tcT p.S246S SLC12A4_ENST00000576616.1_Silent_p.S244S|SLC12A4_ENST00000541864.2_Silent_p.S213S|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000537830.2_Silent_p.S238S|SLC12A4_ENST00000338335.3_Silent_p.S244S|SLC12A4_ENST00000316341.3_Silent_p.S244S|SLC12A4_ENST00000572037.1_Silent_p.S196S NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 244 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) AAGTGGCATTCGACGTGTCAT 0.453000 44 16 1.32136e-16 1.43533e-16 0.008740 1 0 POLR1B 84172 broad.mit.edu 37 2 113315529 113315529 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:113315529G>C ENST00000263331.5 + 8 1781 c.1201G>C c.(1201-1203)Gat>Cat p.D401H POLR1B_ENST00000498054.1_3'UTR|POLR1B_ENST00000417433.2_Missense_Mutation_p.D345H|POLR1B_ENST00000537335.1_Missense_Mutation_p.D190H|POLR1B_ENST00000541869.1_Missense_Mutation_p.D439H|POLR1B_ENST00000409894.3_Intron NM_019014.4 NP_061887.2 Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 401 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 AATAGCTTTTGATAAGAAGGC 0.343000 5 12 0 0 0.000602 0 0 PPP3CA 5530 broad.mit.edu 37 4 101984485 101984485 + Missense_Mutation SNP T T C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr4:101984485T>C ENST00000394854.3 - 9 1668 c.985A>G c.(985-987)Atg>Gtg p.M329V PPP3CA_ENST00000323055.6_Intron|PPP3CA_ENST00000523694.2_Missense_Mutation_p.M262V|PPP3CA_ENST00000507176.1_Missense_Mutation_p.M231V|PPP3CA_ENST00000394853.4_Missense_Mutation_p.M329V|PPP3CA_ENST00000512215.1_Missense_Mutation_p.M97V NM_000944.4 NP_000935.1 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha isozyme 329 protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) CTGATATTCATAACATTGTTC 0.363000 10 10 0 0 0.006214 0 0 PTCH1 5727 broad.mit.edu 37 9 98229643 98229643 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr9:98229643C>T ENST00000430669.2 - 15 2702 c.2117G>A c.(2116-2118)aGa>aAa p.R706K PTCH1_ENST00000331920.6_Missense_Mutation_p.R772K|PTCH1_ENST00000421141.1_Missense_Mutation_p.R621K|PTCH1_ENST00000429896.2_Missense_Mutation_p.R621K|PTCH1_ENST00000418258.1_Missense_Mutation_p.R621K|PTCH1_ENST00000437951.1_Missense_Mutation_p.R706K|PTCH1_ENST00000375274.2_Missense_Mutation_p.R771K Q13635 PTC1_HUMAN patched 1 772 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.V770fs(4)|p.V771fs(4)|p.D773fs*16(1) NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CAGCCCGTCTCTCACTCGGGT 0.478000 43 16 0 0 0.011902 0 0 FBXO18 84893 broad.mit.edu 37 10 5955750 5955750 + Missense_Mutation SNP A A T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:5955750A>T ENST00000379999.5 + 8 1509 c.1405A>T c.(1405-1407)Aat>Tat p.N469Y FBXO18_ENST00000362091.4_Missense_Mutation_p.N418Y|FBXO18_ENST00000397269.3_5'UTR NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 418 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 TCTTCAGGAGAATTCCTGCAC 0.398000 5 69 0 0 0.001168 0 0 SMARCA4 6597 broad.mit.edu 37 19 11151989 11151989 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:11151989G>A ENST00000358026.2 + 31 4557 c.4273G>A c.(4273-4275)Gag>Aag p.E1425K SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1363K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1360K|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1360K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1363K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1363K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E1393K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1393K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1363K NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1393 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GAAGGCCATCGAGGAGGGCAC 0.627000 """F, N, Mis""" NSCLC 48 48 0 0 0.014410 0 0 BTBD16 118663 broad.mit.edu 37 10 124036305 124036305 + Splice_Site SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr10:124036305G>A ENST00000260723.4 + 3 269 c.e3-1 BTBD16_ENST00000368994.2_Silent_p.Q7Q NM_144587.2 NP_653188.2 Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) TTACCAAGCAGCACAAAGCTC 0.448000 3 97 0 0 0.004672 0 0 ITCH 83737 broad.mit.edu 37 20 33026353 33026353 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:33026353C>G ENST00000374864.4 + 8 809 c.596C>G c.(595-597)tCt>tGt p.S199C ITCH_ENST00000262650.6_Missense_Mutation_p.S240C|ITCH_ENST00000535650.1_Missense_Mutation_p.S89C NM_001257137.1|NM_001257138.1|NM_031483.5 NP_001244066.1|NP_001244067.1|NP_113671.3 Q96J02 ITCH_HUMAN itchy E3 ubiquitin protein ligase 240 apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 GGGAATAATTCTCCATCACTC 0.483000 72 56 0 0 0.014410 0 0 TTLL8 164714 broad.mit.edu 37 22 50471761 50471761 + Missense_Mutation SNP T T G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr22:50471761T>G ENST00000266182.6 - 10 1152 c.1153A>C c.(1153-1155)Atc>Ctc p.I385L TTLL8_ENST00000440475.1_Missense_Mutation_p.I365L tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) GTGTCACAGATGAGCAGCGGC 0.562000 9 5 0 0 0.004482 0 0 NTN1 9423 broad.mit.edu 37 17 8926345 8926345 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:8926345G>A ENST00000173229.2 + 2 762 c.655G>A c.(655-657)Gcc>Acc p.A219T NTN1_ENST00000546090.1_Missense_Mutation_p.A219T|NTN1_ENST00000538852.1_Missense_Mutation_p.A219T NM_004822.2 NP_004813.2 O95631 NET1_HUMAN netrin 1 219 Laminin N-terminal. apoptosis|axon guidance protein binding NTN1/ACLY(2) central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5) 13 CGGCCTCATCGCCTTCAGCAC 0.701000 5 8 0 0 0.000602 0 0 CASKIN2 57513 broad.mit.edu 37 17 73503147 73503147 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:73503147C>T ENST00000321617.3 - 5 894 c.308G>A c.(307-309)cGc>cAc p.R103H CASKIN2_ENST00000581870.1_Missense_Mutation_p.R103H|CASKIN2_ENST00000433559.2_Missense_Mutation_p.R21H NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 103 cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CGCAGAGGCGCGCAGCAGCAG 0.662000 8 20 0 0 0.003080 0 0 GOLPH3L 55204 broad.mit.edu 37 1 150620960 150620960 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:150620960G>C ENST00000271732.3 - 5 739 c.695C>G c.(694-696)tCt>tGt p.S232C GOLPH3L_ENST00000540514.1_Missense_Mutation_p.S188C NM_018178.5 NP_060648.2 Q9H4A5 GLP3L_HUMAN golgi phosphoprotein 3-like 232 Golgi cisterna membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 8 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) TAGCACATCAGAGGAGTGGGC 0.473000 23 77 0 0 0.003954 0 0 FZD7 8324 broad.mit.edu 37 2 202900750 202900750 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:202900750G>C ENST00000286201.1 + 1 1441 c.1380G>C c.(1378-1380)aaG>aaC p.K460N NM_003507.1 NP_003498.1 O75084 FZD7_HUMAN frizzled family receptor 7 460 axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 31 ACGGCACCAAGACCGAGAAGC 0.592000 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 35 0 0 0.008871 0 0 MROH7-TTC4 100527960 broad.mit.edu 37 1 55118945 55118945 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:55118945G>A ENST00000414150.2 + 3 624 c.346G>A c.(346-348)Gac>Aac p.D116N MROH7_ENST00000339553.5_Missense_Mutation_p.D116N|MROH7_ENST00000421030.2_Missense_Mutation_p.D116N|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.D116N CTCAAGGCCTGACTCACAGGG 0.572000 72 81 0 0 0.014410 0 0 VEZF1 7716 broad.mit.edu 37 17 56060115 56060115 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:56060115C>T ENST00000584396.1 - 2 734 c.646G>A c.(646-648)Gaa>Aaa p.E216K VEZF1_ENST00000581208.1_Missense_Mutation_p.E225K Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 225 cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 ATGCCTCCTTCATGAGACCTC 0.448000 16 100 0 0 0.004007 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140718701 140718701 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:140718701G>C ENST00000394576.2 + 1 163 c.163G>C c.(163-165)Gag>Cag p.E55Q PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTGGGTTTGGAGCCCCTGGC 0.617000 OREG0016854 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 42 0 0 0.010504 0 0 CDC27 996 broad.mit.edu 37 17 45199920 45199920 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:45199920G>A ENST00000066544.3 - 18 2375 c.2282C>T c.(2281-2283)tCt>tTt p.S761F CDC27_ENST00000527547.1_Missense_Mutation_p.S760F|CDC27_ENST00000531206.1_Missense_Mutation_p.S767F|CDC27_ENST00000446365.2_Missense_Mutation_p.S700F NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 761 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 CATAGCCCAAGAGAAATTCAT 0.383000 34 38 0 0 0.012213 0 0 SAMD4B 55095 broad.mit.edu 37 19 39868175 39868175 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:39868175G>C ENST00000314471.6 + 10 2190 c.1155G>C c.(1153-1155)caG>caC p.Q385H SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Missense_Mutation_p.Q385H NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 385 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) AGCTGCAGCAGATCATCATCA 0.627000 49 72 0 0 0.014410 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882308 228882308 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr2:228882308C>G ENST00000392056.3 - 7 3308 c.3262G>C c.(3262-3264)Gag>Cag p.E1088Q SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1088Q NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1088 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GAGTCTTCCTCAGGAATGCTT 0.632000 10 34 0 0 0.013537 0 0 TPPP3 51673 broad.mit.edu 37 16 67424463 67424463 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr16:67424463G>C ENST00000564104.1 - 2 1102 c.261C>G c.(259-261)ttC>ttG p.F87L TPPP3_ENST00000562206.1_Missense_Mutation_p.F87L|TPPP3_ENST00000290942.5_Missense_Mutation_p.F87L|TPPP3_ENST00000393957.2_Missense_Mutation_p.F87L Q9BW30 TPPP3_HUMAN tubulin polymerization-promoting protein family member 3 87 microtubule bundle formation cytoplasm|microtubule calcium ion binding|tubulin binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781) TCTTCCCCTTGAATCTCTTGG 0.582000 158 88 0 0 0.014410 0 0 RPL37 6167 broad.mit.edu 37 5 40834293 40834293 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr5:40834293G>A ENST00000274242.5 - 3 363 c.214C>T c.(214-216)Cgc>Tgc p.R72C RPL37_ENST00000509877.1_Intron|RPL37_ENST00000508493.1_Missense_Mutation_p.R72C|RPL37_ENST00000504562.1_5'UTR NM_000997.4 NP_000988.1 P61927 RL37_HUMAN ribosomal protein L37 72 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit metal ion binding|protein binding|rRNA binding|structural constituent of ribosome lung(3)|ovary(1) 4 Breast(839;0.238) CTGAATCTGCGGTATACAATT 0.398000 12 71 0 0 0.013537 0 0 SIRPB2 284759 broad.mit.edu 37 20 1456880 1456880 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:1456880C>T ENST00000359801.3 - 5 997 c.961G>A c.(961-963)Gaa>Aaa p.E321K SIRPB2_ENST00000444444.2_Missense_Mutation_p.E223K NM_001122962.1 NP_001116434.1 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 321 integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TTGACATCTTCTTGCCCAGGG 0.597000 65 139 0 0 0.014410 0 0 GMDS 2762 broad.mit.edu 37 6 1726704 1726704 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:1726704C>G ENST00000380815.4 - 9 1202 c.933G>C c.(931-933)gaG>gaC p.E311D GMDS_ENST00000530927.1_Missense_Mutation_p.E281D NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 311 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) CTTTGCCGGTCTCTTTACATC 0.493000 19 95 0 0 0.014323 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111932947 111932947 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr13:111932947G>C ENST00000375741.2 + 16 1961 c.1711G>C c.(1711-1713)Gag>Cag p.E571Q ARHGEF7_ENST00000478679.1_Missense_Mutation_p.E315Q|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.E468Q|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.E393Q|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.E393Q|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.E521Q|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.E393Q|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.E393Q|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.E478Q|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.E550Q NM_001113511.1|NM_145735.2 NP_001106983.1|NP_663788.1 Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 571 PH. apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) GGAATGGGTGGAGCACCTACA 0.498000 75 78 0 0 0.014410 0 0 COL14A1 7373 broad.mit.edu 37 8 121170472 121170472 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr8:121170472G>A ENST00000297848.3 + 3 462 c.192G>A c.(190-192)gtG>gtA p.V64V COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.V64V|COL14A1_ENST00000247781.3_Silent_p.V64V|COL14A1_ENST00000537875.1_Silent_p.V64V NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 64 Fibronectin type-III 1. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) AACTTCTTGTGACTCCAACTT 0.368000 8 42 0 0 0.004482 0 0 RNF111 54778 broad.mit.edu 37 15 59350741 59350741 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr15:59350741C>G ENST00000348370.4 + 5 1791 c.1358C>G c.(1357-1359)tCt>tGt p.S453C RNF111_ENST00000559209.1_Missense_Mutation_p.S453C|RNF111_ENST00000557998.1_Missense_Mutation_p.S453C|RNF111_ENST00000561186.1_Missense_Mutation_p.S453C|RNF111_ENST00000434298.1_Missense_Mutation_p.S453C NM_001270528.1|NM_001270529.1|NM_017610.7 NP_001257457.1|NP_001257458.1|NP_060080.6 Q6ZNA4 RN111_HUMAN ring finger protein 111 453 Ser-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all cancers(107;0.194) ACTGGCACTTCTATAGGAGGT 0.413000 118 78 0 0 0.014410 0 0 GAS2 2620 broad.mit.edu 37 11 22759311 22759311 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:22759311C>G ENST00000454584.2 + 5 775 c.470C>G c.(469-471)gCc>gGc p.A157G GAS2_ENST00000433790.1_Missense_Mutation_p.A157G|GAS2_ENST00000278187.3_Missense_Mutation_p.A157G NM_001143830.1 NP_001137302.1 O43903 GAS2_HUMAN growth arrest-specific 2 157 cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 CGGATTGCAGCCAGGTAGGTC 0.468000 12 52 0 0 0.013537 0 0 ZNF799 90576 broad.mit.edu 37 19 12501795 12501795 + Missense_Mutation SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:12501795C>G ENST00000419318.1 - 4 2070 c.1321G>C c.(1321-1323)Gag>Cag p.E441Q ZNF799_ENST00000430385.3_Missense_Mutation_p.E473Q|CTD-3105H18.14_ENST00000435033.1_Intron Q96GE5 ZN799_HUMAN zinc finger protein 799 473 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TATGGCTTCTCTCCAGCATGA 0.383000 49 95 0 0 0.014410 0 0 AP1M1 8907 broad.mit.edu 37 19 16337279 16337279 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:16337279C>T ENST00000291439.3 + 6 1043 c.594C>T c.(592-594)atC>atT p.I198I AP1M1_ENST00000444449.2_Silent_p.I210I|AP1M1_ENST00000429941.2_Silent_p.I198I|AP1M1_ENST00000541844.1_Silent_p.I126I|AP1M1_ENST00000590756.1_Silent_p.I126I NM_032493.3 NP_115882.1 Q9BXS5 AP1M1_HUMAN adaptor-related protein complex 1, mu 1 subunit 198 MHD. cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2) 21 TGGGCTCCATCAAGATGCGAG 0.652000 9 4 0 0 0.004482 0 0 CASP9 842 broad.mit.edu 37 1 15821948 15821948 + Splice_Site SNP C C G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:15821948C>G ENST00000546424.1 - 7 1113 c.e7-1 CASP9_ENST00000375890.4_Splice_Site|CASP9_ENST00000348549.5_Splice_Site|CASP9_ENST00000333868.5_Splice_Site P55211 CASP9_HUMAN caspase 9, apoptosis-related cysteine peptidase activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol cysteine-type endopeptidase activity|enzyme activator activity|protein binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1) 18 Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655) TCTTTCTGCTCTGCAGGAAGC 0.488000 5 14 0 0 0.001168 0 0 ZMYM3 9203 broad.mit.edu 37 X 70472591 70472591 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chrX:70472591G>A ENST00000373998.1 - 2 1212 c.515C>T c.(514-516)tCc>tTc p.S172F ZMYM3_ENST00000353904.2_Missense_Mutation_p.S172F|ZMYM3_ENST00000373978.1_Missense_Mutation_p.S172F|ZMYM3_ENST00000373981.1_Missense_Mutation_p.S172F|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Missense_Mutation_p.S172F|ZMYM3_ENST00000373988.1_Missense_Mutation_p.S172F|ZMYM3_ENST00000314425.5_Missense_Mutation_p.S172F|ZMYM3_ENST00000373984.3_Missense_Mutation_p.S172F NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 172 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) CTGCCCAGGGGAGCCCCTTCT 0.577000 25 7 0 0 0.006320 0 0 RPA3 6119 broad.mit.edu 37 7 7678736 7678736 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:7678736C>T ENST00000223129.4 - 6 1310 c.139G>A c.(139-141)Gaa>Aaa p.E47K RPA3_ENST00000401447.1_Missense_Mutation_p.E8K|RPA3_ENST00000406109.1_Missense_Mutation_p.E8K|RPA3_ENST00000396682.2_Missense_Mutation_p.E47K NM_002947.3 NP_002938.1 P35244 RFA3_HUMAN replication protein A3, 14kDa 47 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair cytoplasm|DNA replication factor A complex|nucleoplasm protein binding|single-stranded DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Ovarian(82;0.0607) UCEC - Uterine corpus endometrioid carcinoma (126;0.202) TTTTTTCCTTCTCCATCTGAA 0.299000 Direct reversal of damage;Nucleotide excision repair (NER) 7 39 0 0 0.004482 0 0 RYR1 6261 broad.mit.edu 37 19 38973699 38973699 + Silent SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:38973699C>T ENST00000355481.4 + 32 4784 c.4653C>T c.(4651-4653)gtC>gtT p.V1551V RYR1_ENST00000360985.3_Silent_p.V1551V|RYR1_ENST00000359596.3_Silent_p.V1551V NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1551 6 X approximate repeats.|B30.2/SPRY 3. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TTCCTGCCGTCTTCGTCCTGC 0.587000 81 76 0 0 0.014410 0 0 ZBTB9 221504 broad.mit.edu 37 6 33423781 33423781 + Nonsense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:33423781C>T ENST00000395064.2 + 2 1172 c.904C>T c.(904-906)Cag>Tag p.Q302* NM_152735.3 NP_689948.1 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 302 Gly-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2) 11 AAGCGGAACTCAGCCTGGAGG 0.547000 26 61 0 0 0.003954 0 0 IGSF9 57549 broad.mit.edu 37 1 159906269 159906269 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:159906269C>T ENST00000368094.1 - 6 790 c.593G>A c.(592-594)cGa>cAa p.R198Q IGSF9_ENST00000361509.3_Missense_Mutation_p.R198Q NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 198 Ig-like 2. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) AGAGCTGCCTCGCTCTACCCG 0.657000 OREG0013921 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 50 0 0 0.002780 0 0 CYP3A7 1551 broad.mit.edu 37 7 99312307 99312307 + Splice_Site SNP T T C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:99312307T>C ENST00000336374.2 - 8 673 c.e8-2 NM_000765.3 NP_000756.2 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 7 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) GAAAGACTTCTGTAGAAAAAA 0.303000 25 54 0 0 0.003954 0 0 AGL 178 broad.mit.edu 37 1 100387187 100387187 + Missense_Mutation SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:100387187G>C ENST00000294724.4 + 34 5057 c.4579G>C c.(4579-4581)Gag>Cag p.E1527Q AGL_ENST00000361915.3_Missense_Mutation_p.E1527Q|AGL_ENST00000361522.4_Missense_Mutation_p.E1510Q|AGL_ENST00000370163.3_Missense_Mutation_p.E1527Q|AGL_ENST00000361302.3_Missense_Mutation_p.E1511Q|AGL_ENST00000370165.3_Missense_Mutation_p.E1527Q|AGL_ENST00000370161.2_Missense_Mutation_p.E1511Q NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1527 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TACTATTCTTGAGACACTTTA 0.378000 9 42 0 0 0.006214 0 0 CEACAM8 1088 broad.mit.edu 37 19 43097978 43097978 + Missense_Mutation SNP C C T TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr19:43097978C>T ENST00000244336.5 - 2 240 c.139G>A c.(139-141)Gag>Aag p.E47K LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594624.2_RNA NM_001816.3 NP_001807.2 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion molecule 8 47 Ig-like V-type. immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) TCCTTCCCCTCTGCAGCATTG 0.537000 115 126 0 0 0.014410 0 0 RPRD1B 58490 broad.mit.edu 37 20 36662412 36662412 + Silent SNP G G A rs17853182 TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:36662412G>A ENST00000373433.4 + 1 465 c.63G>A c.(61-63)caG>caA p.Q21Q NM_021215.3 NP_067038.1 Q9NQG5 RPR1B_HUMAN regulation of nuclear pre-mRNA domain containing 1B 21 CID. Q -> H (in Ref. 5; AAH33629). endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1) 12 ACTCTCAGCAGAGCGTGCAGA 0.642000 58 91 0 0 0.014410 0 0 ZC3H18 124245 broad.mit.edu 37 16 88677707 88677707 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr16:88677707G>A ENST00000301011.5 + 8 1438 c.1238G>A c.(1237-1239)aGa>aAa p.R413K ZC3H18_ENST00000452588.2_Missense_Mutation_p.R437K NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 413 nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) agagagaacagacagcgcgag 0.647000 22 6 0 0 0.010504 0 0 ALOXE3 59344 broad.mit.edu 37 17 8018956 8018956 + Missense_Mutation SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:8018956G>A ENST00000380149.1 - 3 901 c.871C>T c.(871-873)Cgg>Tgg p.R291W ALOXE3_ENST00000318227.3_Missense_Mutation_p.R267W|ALOXE3_ENST00000448843.2_Missense_Mutation_p.R135W Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 135 Lipoxygenase. leukotriene biosynthetic process iron ion binding|lipoxygenase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 31 CGGAGCTCCCGTGTCCTGTGA 0.473000 36 26 0 0 0.007835 0 0 NOX4 50507 broad.mit.edu 37 11 89106617 89106617 + Missense_Mutation SNP A A G TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr11:89106617A>G ENST00000535633.1 - 12 1356 c.1046T>C c.(1045-1047)aTa>aCa p.I349T NOX4_ENST00000542487.1_Missense_Mutation_p.I349T|NOX4_ENST00000534731.1_Missense_Mutation_p.I373T|NOX4_ENST00000528341.1_Missense_Mutation_p.I348T|NOX4_ENST00000343727.5_Missense_Mutation_p.I349T|NOX4_ENST00000527626.1_Missense_Mutation_p.I207T|NOX4_ENST00000375979.3_Missense_Mutation_p.I66T|NOX4_ENST00000424319.1_Missense_Mutation_p.I349T|NOX4_ENST00000527956.1_Missense_Mutation_p.I349T|NOX4_ENST00000413594.2_Missense_Mutation_p.I394T|NOX4_ENST00000532825.1_Missense_Mutation_p.I349T|NOX4_ENST00000263317.4_Missense_Mutation_p.I373T|NOX4_ENST00000531342.1_Missense_Mutation_p.I66T|NOX4_ENST00000525196.1_Intron NM_001143836.1|NM_016931.3 NP_001137308.1|NP_058627.1 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 373 FAD-binding FR-type.|Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) GTCTCCTACTATTTTAAGATG 0.264000 104 48 0 0 0.014410 0 0 SMYD4 114826 broad.mit.edu 37 17 1703353 1703353 + Silent SNP G G C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:1703353G>C ENST00000305513.7 - 5 1502 c.1335C>G c.(1333-1335)ctC>ctG p.L445L NM_052928.2 NP_443160.2 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 445 zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1) 21 CAGAAACACAGAGAGCACAGA 0.453000 38 33 0 0 0.004289 0 0 KCNN3 3782 broad.mit.edu 37 1 154705586 154705586 + Silent SNP G G A TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:154705586G>A ENST00000271915.4 - 4 1798 c.1483C>T c.(1483-1485)Ctg>Ttg p.L495L KCNN3_ENST00000361147.4_Silent_p.L190L|KCNN3_ENST00000358505.2_Silent_p.L182L NM_001204087.1|NM_002249.5 NP_001191016.1|NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) ATGGCACCCAGAAAGTTACTA 0.517000 15 53 0 0 0.003163 0 0 SYNC 81493 broad.mit.edu 37 1 33149943 33149943 + Frame_Shift_Del DEL C C - TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr1:33149943delC ENST00000373484.3 - 3 1373 c.1274delG c.(1273-1275)agafs p.R425fs SYNC_ENST00000409190.3_Frame_Shift_Del_p.R425fs|RBBP4_ENST00000373493.5_3'UTR NM_001161708.1 NP_001155180 Q9H7C4 SYNCI_HUMAN syncoilin, intermediate filament protein 425 Coil 2. intermediate filament|perinuclear region of cytoplasm structural molecule activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 CACCCCATTTCTTAACTGCCT 0.443 33 112 --- --- --- --- HERC5 51191 broad.mit.edu 37 4 89415386 89415386 + Frame_Shift_Del DEL T T - TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr4:89415386delT ENST00000264350.3 + 18 2501 c.2348delT c.(2347-2349)gttfs p.V783fs HERC5_ENST00000508159.1_Frame_Shift_Del_p.V421fs NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 783 HECT. innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) AATTGCAATGTTGCCAACCTT 0.368 12 37 --- --- --- --- FOXQ1 94234 broad.mit.edu 37 6 1313255 1313256 + Frame_Shift_Ins INS - - GC TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr6:1313255_1313256insGC ENST00000296839.2 + 1 581_582 c.316_317insGC c.(316-318)ggcfs p.G106fs NM_033260.3 NP_150285.3 Q9C009 FOXQ1_HUMAN forkhead box Q1 106 DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter 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 activator activity|transcription factor binding|ubiquitin conjugating enzyme binding lung(1)|urinary_tract(1) 2 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) cgcggggagcggcgagggtgCA 0.782 7 11 --- --- --- --- HOXA3 3200 broad.mit.edu 37 7 27148001 27148005 + Frame_Shift_Del DEL ACGGG ACGGG - TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr7:27148001_27148005delACGGG ENST00000396352.4 - 3 1060_1064 c.861_865delCCCGT c.(859-867)gtcccgtatfs p.PY288fs HOXA3_ENST00000317201.2_Frame_Shift_Del_p.PY288fs|HOXA-AS2_ENST00000518088.1_RNA NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 288 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P288Q(1) breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 TGGGGCTCATACGGGACGCTGTTGA 0.693 27 57 --- --- --- --- SULF1 23213 broad.mit.edu 37 8 70536366 70536366 + Frame_Shift_Del DEL G G - TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr8:70536366delG ENST00000260128.4 + 15 2501 c.1784delG c.(1783-1785)aggfs p.R595fs SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Frame_Shift_Del_p.R595fs|SULF1_ENST00000458141.2_Frame_Shift_Del_p.R595fs|SULF1_ENST00000419716.3_Frame_Shift_Del_p.R595fs NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 595 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) GGTGGCAACAGGGGCAGGATG 0.512 9 20 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49445896 49445896 + Frame_Shift_Del DEL C C - TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr12:49445896delC ENST00000301067.7 - 10 1569 c.1570delG c.(1570-1572)gaafs p.E525fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGTGACTCTTCCGGTGGAGAC 0.597 17 55 --- --- --- --- RBL2 5934 broad.mit.edu 37 16 53488655 53488655 + Frame_Shift_Del DEL G G - TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr16:53488655delG ENST00000262133.6 + 8 1217 c.1080delG c.(1078-1080)gagfs p.E361fs RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Frame_Shift_Del_p.E145fs NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 361 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 ATGCTGAGGAGGAAATTGGGA 0.428 29 31 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 3 4 --- --- --- --- SMYD4 114826 broad.mit.edu 37 17 1704320 1704321 + Splice_Site INS - - C TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr17:1704320_1704321insC ENST00000305513.7 - 5 537 c.e5-2 NM_052928.2 NP_443160.2 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 zinc ion binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1) 21 AAGACACGTCTGAAAACAGAAA 0.381 36 67 --- --- --- --- NOP56 10528 broad.mit.edu 37 20 2635118 2635118 + Frame_Shift_Del DEL G G - TCGA-G2-A2EF-01A-12D-A18F-08 TCGA-G2-A2EF-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5917bd-2cb1-438c-a46c-5d8ca5b2fd0e f2ba42d5-03bd-4c43-8480-401ab04f73ac g.chr20:2635118delG ENST00000329276.5 + 4 783 c.267delG c.(265-267)aagfs p.K90fs NM_006392.3 NP_006383.2 O00567 NOP56_HUMAN NOP56 ribonucleoprotein 90 rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 CCAAAAAGAAGAAAGTACTCT 0.537 45 72 --- --- --- ---