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 C5orf51 285636 broad.mit.edu 37 5 41904475 41904475 + Silent SNP G G C TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr5:41904475G>C ENST00000381647.2 + 1 25 c.6G>C c.(4-6)gcG>gcC p.A2A C5orf51_ENST00000505931.2_Intron NM_175921.4 NP_787117.3 A6NDU8 CE051_HUMAN chromosome 5 open reading frame 51 2 endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 TGGCCATGGCGGCCGCAGTCT 0.662000 14 21 0 0 1 0 0 CAPN3 825 broad.mit.edu 37 15 42693949 42693949 + Missense_Mutation SNP C C G TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr15:42693949C>G ENST00000397163.3 + 11 1684 c.1465C>G c.(1465-1467)Cgg>Ggg p.R489G CAPN3_ENST00000357568.3_Missense_Mutation_p.R489G|CAPN3_ENST00000349748.3_Missense_Mutation_p.R441G|CAPN3_ENST00000356316.3_Missense_Mutation_p.R402G|CAPN3_ENST00000318023.7_Missense_Mutation_p.R489G|RP11-164J13.1_ENST00000495723.1_RNA NM_000070.2 NP_000061.1 P20807 CAN3_HUMAN calpain 3, (p94) 489 Domain III. R -> Q (in LGMD2A).|R -> W (in LGMD2A). muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) GCAGAAGAACCGGCGGAAGGA 0.572000 10 39 0 0 1 0 0 MFI2 4241 broad.mit.edu 37 3 196736583 196736583 + Silent SNP G G A TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr3:196736583G>A ENST00000296350.5 - 11 1544 c.1431C>T c.(1429-1431)caC>caT p.H477H NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 477 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) CGAAACCGGCGTGGCAGGAGC 0.637000 51 28 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164908297 164908297 + Missense_Mutation SNP G G T TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr3:164908297G>T ENST00000475390.1 - 2 765 c.322C>A c.(322-324)Ctt>Att p.L108I SLITRK3_ENST00000241274.3_Missense_Mutation_p.L108I O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 108 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 TTGTTCCCAAGATTAATAGAC 0.343000 HNSCC(40;0.11) 23 10 1.22574e-08 1.35865e-08 1 1 0 IGF2R 3482 broad.mit.edu 37 6 160517488 160517488 + Missense_Mutation SNP G G C TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr6:160517488G>C ENST00000356956.1 + 45 6821 c.6673G>C c.(6673-6675)Gtg>Ctg p.V2225L IGF2R_ENST00000475584.1_3'UTR NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 2225 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity p.V2225M(1) breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) TCTCGATGTCGTGTTTGCCTC 0.512000 19 196 0 0 1 0 0 CATSPER1 117144 broad.mit.edu 37 11 65784607 65784607 + Missense_Mutation SNP G G T TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr11:65784607G>T ENST00000312106.5 - 11 2377 c.2240C>A c.(2239-2241)gCa>gAa p.A747E NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 747 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 CTCCACGCTTGCCACCAGCTG 0.642000 13 16 0.00185496 0.00189618 1 1 0 ACACB 32 broad.mit.edu 37 12 109696795 109696795 + Silent SNP A A G TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr12:109696795A>G ENST00000338432.7 + 47 6497 c.6378A>G c.(6376-6378)ggA>ggG p.G2126G ACACB_ENST00000377854.5_Silent_p.G2056G|ACACB_ENST00000543201.1_Silent_p.G792G|ACACB_ENST00000377848.3_Silent_p.G2126G O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 2126 Carboxyltransferase. 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) AGCAGGCAGGACAGGTGTGGT 0.577000 OREG0007682 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=ACACB|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 44 188 0 0 1 0 0 MYRIP 25924 broad.mit.edu 37 3 40231702 40231702 + Silent SNP A A G TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr3:40231702A>G ENST00000302541.6 + 10 1755 c.1413A>G c.(1411-1413)agA>agG p.R471R MYRIP_ENST00000396217.3_Silent_p.R382R|MYRIP_ENST00000539167.1_Silent_p.R284R|MYRIP_ENST00000425621.1_Silent_p.R471R|MYRIP_ENST00000444716.1_Silent_p.R471R|MYRIP_ENST00000459828.1_3'UTR NM_015460.2 NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 471 Myosin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) ACCAGGCCAGACTGTCCTGGT 0.622000 32 60 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142478853 142478853 + RNA SNP T T C rs141495203 by1000genomes TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr7:142478853T>C ENST00000603901.1 + 0 14 NR_001296.3 AATCCACTCCTGATCCTTGCC 0.572000 4 29 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22363519 22363519 + Missense_Mutation SNP C C G TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr19:22363519C>G ENST00000397121.2 - 3 1317 c.1000G>C c.(1000-1002)Gag>Cag p.E334Q NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 334 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TAGGGTTTCTCTCCAGCATGA 0.408000 32 34 0 0 1 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133664065 133664065 + Silent SNP G G T TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr3:133664065G>T ENST00000310926.4 - 10 1608 c.1335C>A c.(1333-1335)cgC>cgA p.R445R SLCO2A1_ENST00000493729.1_Silent_p.R369R NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 445 Kazal-like. sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2) 30 AGCAGTCCCTGCGGCAGGCAG 0.522000 56 305 5.73376e-24 6.59382e-24 1 1 0 MXD1 4084 broad.mit.edu 37 2 70165331 70165331 + Missense_Mutation SNP G G C TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr2:70165331G>C ENST00000264444.2 + 6 841 c.581G>C c.(580-582)aGc>aCc p.S194T MXD1_ENST00000540449.1_Missense_Mutation_p.S184T|MXD1_ENST00000465446.1_3'UTR NM_001202513.1|NM_001202514.1|NM_002357.3 NP_001189442.1|NP_001189443.1|NP_002348.1 Q05195 MAD1_HUMAN MAX dimerization protein 1 194 cell proliferation|multicellular organismal development mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 7 AGCATGCAGAGCCTCGGCAGT 0.562000 33 77 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578502 7578502 + Missense_Mutation SNP A A C TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr17:7578502A>C ENST00000420246.2 - 5 560 c.428T>G c.(427-429)gTg>gGg p.V143G TP53_ENST00000445888.2_Missense_Mutation_p.V143G|TP53_ENST00000359597.4_Missense_Mutation_p.V143G|TP53_ENST00000413465.2_Missense_Mutation_p.V143G|TP53_ENST00000269305.4_Missense_Mutation_p.V143G|TP53_ENST00000455263.2_Missense_Mutation_p.V143G NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 143 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCACAGCTGCACAGGGCAGGT 0.587000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 36 1 0 0 1 0 0 USP51 158880 broad.mit.edu 37 X 55515333 55515333 + Missense_Mutation SNP C C T TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chrX:55515333C>T ENST00000500968.3 - 2 122 c.40G>A c.(40-42)Ggg>Agg p.G14R NM_201286.3 NP_958443.1 Q70EK9 UBP51_HUMAN ubiquitin specific peptidase 51 14 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 CAGCGGACCCCAGAGCCGGAG 0.627000 8 16 0 0 1 0 0 MSC 9242 broad.mit.edu 37 8 72756427 72756427 + Translation_Start_Site SNP T T A TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr8:72756427T>A ENST00000325509.4 - 0 276 RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron NM_005098.3 NP_005089.2 O60682 MUSC_HUMAN musculin transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2) 26 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) GTTGTCCCCCTTGCCCACACG 0.692000 29 17 0 0 1 0 0 MT-CYB 4519 broad.mit.edu 37 MT 15596 15596 + Missense_Mutation SNP G G C TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chrM:15596G>C ENST00000361789.2 + 1 850 c.850G>C c.(850-852)Gtc>Ctc p.284_284insL mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 TTCTCCGATCCGTCCCTAACA 0.458000 OREG0007583 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 18 84 0 0 1 0 0 USP10 9100 broad.mit.edu 37 16 84792334 84792334 + Missense_Mutation SNP A A G TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr16:84792334A>G ENST00000219473.7 + 5 1318 c.1205A>G c.(1204-1206)aAt>aGt p.N402S USP10_ENST00000570191.1_Missense_Mutation_p.N406S NM_001272075.1|NM_005153.2 NP_001259004.1|NP_005144.2 Q14694 UBP10_HUMAN ubiquitin specific peptidase 10 402 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 TTGCTGGAGAATGTAACCCTA 0.438000 24 52 0 0 1 0 0 LINC00854 0 broad.mit.edu 37 17 41381938 41381938 + RNA SNP C C G rs4986161 TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr17:41381938C>G ENST00000433702.2 - 0 14 NR_047479.1 aagagctgatcttatgcaggg 0.552000 4 29 0 0 1 0 0 FZD2 2535 broad.mit.edu 37 17 42636744 42636744 + Missense_Mutation SNP C C T TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr17:42636744C>T ENST00000315323.3 + 1 1820 c.1688C>T c.(1687-1689)aCc>aTc p.T563I NM_001466.3 NP_001457.1 Q14332 FZD2_HUMAN frizzled family receptor 2 563 axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|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 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8) 33 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) CACGGTGAGACCACCGTGTGA 0.597000 19 12 0 0 1 0 0 EHMT2 10919 broad.mit.edu 37 6 31848029 31848029 + Silent SNP G G A TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr6:31848029G>A ENST00000395728.3 - 27 3635 c.3636C>T c.(3634-3636)ggC>ggT p.G1212G EHMT2_ENST00000375528.4_Silent_p.G1178G|EHMT2_ENST00000375530.4_Silent_p.G1121G|EHMT2_ENST00000375537.4_Silent_p.G1155G|EHMT2_ENST00000480912.1_5'UTR Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 1155 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 AGAAGCGGTCGCCATAGTCAA 0.567000 4 37 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6700933 6700933 + Missense_Mutation SNP C C T TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr12:6700933C>T ENST00000309577.6 - 21 3312 c.3149G>A c.(3148-3150)gGg>gAg p.G1050E CHD4_ENST00000357008.2_Missense_Mutation_p.G1050E|CHD4_ENST00000544484.1_Missense_Mutation_p.G1047E|CHD4_ENST00000544040.1_Missense_Mutation_p.G1043E Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1050 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CAATAATTTCCCAGATGCTCT 0.443000 65 3 0 0 1 0 0 BCL2L13 23786 broad.mit.edu 37 22 18185097 18185097 + Missense_Mutation SNP G G C TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr22:18185097G>C ENST00000317582.5 + 6 892 c.545G>C c.(544-546)gGc>gCc p.G182A BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000543133.1_Missense_Mutation_p.G20A|BCL2L13_ENST00000493680.1_Missense_Mutation_p.G182A|BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000538149.1_Missense_Mutation_p.G58A|BCL2L13_ENST00000399782.1_Missense_Mutation_p.G182A|BCL2L13_ENST00000337612.5_Missense_Mutation_p.G20A NM_015367.2 NP_056182.2 Q9BXK5 B2L13_HUMAN BCL2-like 13 (apoptosis facilitator) 182 induction of apoptosis integral to membrane|mitochondrial membrane|nucleus caspase activator activity breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2) 15 all_epithelial(15;0.123) Lung(27;0.199) CTGCAGTTTGGCGTGACATAC 0.403000 37 47 0 0 1 0 0 CCDC88B 283234 broad.mit.edu 37 11 64111265 64111265 + Missense_Mutation SNP C C T TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr11:64111265C>T ENST00000356786.5 + 13 1378 c.1334C>T c.(1333-1335)gCg>gTg p.A445V CCDC88B_ENST00000463837.1_3'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 445 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CTAGCAGGAGCGGCCCCCTCG 0.637000 6 10 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241713633 241713633 + Missense_Mutation SNP T T A TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr2:241713633T>A ENST00000498729.2 - 12 1250 c.1004A>T c.(1003-1005)gAc>gTc p.D335V KIF1A_ENST00000320389.7_Missense_Mutation_p.D335V NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 335 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) GTAGTTGATGTCTGCAGGACT 0.587000 27 8 0 0 1 0 0 SLC25A39 51629 broad.mit.edu 37 17 42398463 42398463 + Silent SNP G G A TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr17:42398463G>A ENST00000225308.8 - 8 804 c.630C>T c.(628-630)ggC>ggT p.G210G SLC25A39_ENST00000590194.1_Silent_p.G210G|SLC25A39_ENST00000537904.2_Silent_p.G195G|SLC25A39_ENST00000586016.1_Silent_p.G86G|SLC25A39_ENST00000377095.5_Silent_p.G218G NM_016016.2 NP_057100.1 Q9BZJ4 S2539_HUMAN solute carrier family 25, member 39 218 heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 Prostate(33;0.0233) BRCA - Breast invasive adenocarcinoma(366;0.189) TGGGGCCCCAGCCCAGCCACA 0.637000 10 36 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141108430 141108430 + Missense_Mutation SNP G G A TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr2:141108430G>A ENST00000389484.3 - 77 12799 c.11828C>T c.(11827-11829)cCa>cTa p.P3943L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3943 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) AATTCCGCCTGGATTAAACTG 0.328000 TSP Lung(27;0.18) 31 16 0 0 1 0 0 LPPR4 0 broad.mit.edu 37 1 99764627 99764627 + Missense_Mutation SNP T T A TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr1:99764627T>A ENST00000370185.3 + 4 1072 c.575T>A c.(574-576)aTt>aAt p.I192N LPPR4_ENST00000457765.1_Missense_Mutation_p.I192N|LPPR4_ENST00000370184.1_Missense_Mutation_p.I34N NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 192 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) ACAGCTCTCATTACAGATATC 0.368000 11 16 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106796138 106796138 + Missense_Mutation SNP C C A TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chrX:106796138C>A ENST00000276185.4 + 8 723 c.723C>A c.(721-723)gaC>gaA p.D241E FRMPD3_ENST00000477796.1_3'UTR Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 241 FERM. cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 TTCTTCAGGACAAGCAACCCC 0.463000 11 14 6.40141e-05 6.84802e-05 1 1 0 KIAA0895L 653319 broad.mit.edu 37 16 67214278 67214278 + Missense_Mutation SNP C C T TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr16:67214278C>T ENST00000290881.7 - 3 1162 c.236G>A c.(235-237)cGc>cAc p.R79H KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R79H|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R79H Q68EN5 K895L_HUMAN KIAA0895-like 79 breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1) 17 GCTCTCACTGCGACGCATGTG 0.692000 7 6 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725559 32725559 + Missense_Mutation SNP C C T rs113761247 byFrequency TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr6:32725559C>T ENST00000435145.2 - 4 809 c.748G>A c.(748-750)Ggt>Agt p.G250S HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S|HLA-DQB2_ENST00000411527.1_Intron Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CCTTTCTGACCCCTGTGACGG 0.552000 6 39 0 0 1 0 0 TMEM144 55314 broad.mit.edu 37 4 159140504 159140504 + Silent SNP G G A TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr4:159140504G>A ENST00000514558.1 + 5 2171 c.375G>A c.(373-375)ccG>ccA p.P125P TMEM144_ENST00000296529.6_Silent_p.P125P Q7Z5S9 TM144_HUMAN transmembrane protein 144 125 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1) 19 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0539) TATCAAATCCGCTGCTAAATT 0.363000 31 74 0 0 1 0 0 F2RL1 2150 broad.mit.edu 37 5 76115089 76115089 + Splice_Site SNP G G T TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr5:76115089G>T ENST00000296677.4 + 1 288 c.82_splice c.e1+1 p.G28_splice NM_005242.4 NP_005233.3 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 28 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) CACCATCCAAGGTGAGAAACC 0.672000 4 7 0.014758 0.0149202 1 1 0 SETDB1 9869 broad.mit.edu 37 1 150921998 150921998 + Missense_Mutation SNP A A G TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr1:150921998A>G ENST00000271640.5 + 12 1767 c.1577A>G c.(1576-1578)tAt>tGt p.Y526C SETDB1_ENST00000368969.4_Missense_Mutation_p.Y526C|SETDB1_ENST00000459773.1_Intron NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 526 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) AACCAGACATATAGGTGAGAA 0.502000 27 89 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515250 102515250 + RNA SNP C C T TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr15:102515250C>T ENST00000557932.1 + 0 1096 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TTGACCCCTCCGGTGGCCGGG 0.642000 5 10 0 0 1 0 0 GRIA3 2892 broad.mit.edu 37 X 122387246 122387246 + Missense_Mutation SNP C C A TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chrX:122387246C>A ENST00000264357.5 + 3 653 c.361C>A c.(361-363)Cac>Aac p.H121N GRIA3_ENST00000371256.5_Missense_Mutation_p.H121N|GRIA3_ENST00000542149.1_Missense_Mutation_p.H121N|GRIA3_ENST00000479118.1_3'UTR|GRIA3_ENST00000541091.1_Missense_Mutation_p.H105N|GRIA3_ENST00000371251.1_Missense_Mutation_p.H121N NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 121 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity p.H121N(2) breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) TGGGGCCCTGCACACATCCTT 0.537000 27 89 8.58068e-18 9.74596e-18 1 1 0 C1orf74 148304 broad.mit.edu 37 1 209956665 209956665 + Missense_Mutation SNP C C G TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr1:209956665C>G ENST00000294811.1 - 2 571 c.315G>C c.(313-315)gaG>gaC p.E105D NM_152485.2 NP_689698.1 Q96LT6 CA074_HUMAN chromosome 1 open reading frame 74 105 endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1) 15 OV - Ovarian serous cystadenocarcinoma(81;0.0328) GCAGCACCTGCTCCAAGTGCT 0.532000 16 45 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61951483 61951483 + Silent SNP C C T TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr20:61951483C>T ENST00000422202.1 + 23 3098 c.3030C>T c.(3028-3030)ccC>ccT p.P1010P COL20A1_ENST00000435874.1_Silent_p.P1010P|COL20A1_ENST00000358894.6_Silent_p.P1003P|COL20A1_ENST00000326996.6_Silent_p.P1003P Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 1003 TSP N-terminal. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) GCAGCCCACCCGCTGCGGGCT 0.716000 10 4 0 0 1 0 0 DIRAS2 0 broad.mit.edu 37 9 93375839 93375839 + Nonsense_Mutation SNP G G A TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr9:93375839G>A ENST00000375765.3 - 2 659 c.271C>T c.(271-273)Cga>Tga p.R91* NM_017594.3 NP_060064.2 Q96HU8 DIRA2_HUMAN DIRAS family, GTP-binding RAS-like 2 91 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity kidney(1)|large_intestine(6)|lung(3)|skin(2) 12 AAGGACTGTCGGCTGGTAATG 0.582000 86 4 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76490708 76490708 + Silent SNP G G A TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr17:76490708G>A ENST00000389840.5 - 40 6319 c.6195C>T c.(6193-6195)gaC>gaT p.D2065D DNAH17_ENST00000585328.1_Silent_p.D2074D|RP11-559N14.5_ENST00000591373.1_RNA dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCCGAGGCACGTCCAGAGCCG 0.587000 30 130 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 49033926 49033926 + Missense_Mutation SNP T T G TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr13:49033926T>G ENST00000267163.4 + 20 2201 c.2063T>G c.(2062-2064)cTg>cGg p.L688R NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 688 Domain B.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(11)|p.L688P(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAGCACACCCTGCAGAATGAG 0.443000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 34 1 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56386693 56386693 + Missense_Mutation SNP C C T TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr17:56386693C>T ENST00000355701.3 - 22 4810 c.3940G>A c.(3940-3942)Gag>Aag p.E1314K BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1254K|BZRAP1_ENST00000343736.4_Missense_Mutation_p.E1314K NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1314 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGGATCTGCTCCAAGATCTCC 0.577000 42 47 0 0 1 0 0 PDZD3 79849 broad.mit.edu 37 11 119057301 119057301 + Missense_Mutation SNP G G A TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr11:119057301G>A ENST00000531114.1 + 2 979 c.430G>A c.(430-432)Gtg>Atg p.V144M PDZD3_ENST00000355547.5_Missense_Mutation_p.V78M|PDZD3_ENST00000322712.4_Missense_Mutation_p.V78M|PDZD3_ENST00000525131.1_Missense_Mutation_p.V65M|PDZD3_ENST00000392817.2_Missense_Mutation_p.V144M Q86UT5 NHRF4_HUMAN PDZ domain containing 3 144 PDZ 1. cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport apical part of cell|brush border|cytosol|membrane fraction|subapical complex guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1) 14 all_hematologic(175;0.0977) Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.52e-05) GGTGTGCAGGGTGGACCCAGG 0.597000 45 1 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113585824 113585824 + Silent SNP G G A TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr8:113585824G>A ENST00000297405.5 - 24 4192 c.3948C>T c.(3946-3948)cgC>cgT p.R1316R CSMD3_ENST00000455883.2_Silent_p.R1212R|CSMD3_ENST00000352409.3_Silent_p.R1316R|CSMD3_ENST00000343508.3_Silent_p.R1276R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1316 CUB 7. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTGTCAGTCCGCGCATAGATG 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 26 143 0 0 1 0 0 USP26 83844 broad.mit.edu 37 X 132161820 132161820 + Silent SNP A A T TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chrX:132161820A>T ENST00000511190.1 - 6 898 c.429T>A c.(427-429)tcT>tcA p.S143S USP26_ENST00000406273.1_Silent_p.S143S|USP26_ENST00000370832.1_Silent_p.S143S NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 143 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) CTATCTCAAAAGATTTGCTAC 0.408000 12 28 0 0 1 0 0 SCD 6319 broad.mit.edu 37 10 102108089 102108089 + Missense_Mutation SNP A A T TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr10:102108089A>T ENST00000370355.2 + 2 677 c.296A>T c.(295-297)tAc>tTc p.Y99F NM_005063.4 NP_005054.3 O00767 ACOD_HUMAN stearoyl-CoA desaturase (delta-9-desaturase) 99 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|large_intestine(3)|lung(5) 9 Colorectal(252;0.0323) Epithelial(162;1.97e-10)|all cancers(201;1.73e-08) TGCAAGTTCTACACCTGGCTT 0.493000 95 68 0 0 1 0 0 OR2A12 346525 broad.mit.edu 37 7 143792722 143792722 + Silent SNP C C T TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr7:143792722C>T ENST00000408949.2 + 1 582 c.522C>T c.(520-522)aaC>aaT p.N174N NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) AAAAGATCAACCACTTTTTCT 0.463000 33 72 0 0 1 0 0 PRDM1 639 broad.mit.edu 37 6 106552814 106552814 + Missense_Mutation SNP C C A TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr6:106552814C>A ENST00000369096.4 + 5 1013 c.779C>A c.(778-780)cCc>cAc p.P260H PRDM1_ENST00000369091.2_Missense_Mutation_p.P224H|PRDM1_ENST00000369089.3_Missense_Mutation_p.P126H NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 260 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) GACTCCAACCCCTCCAAAGGA 0.468000 """D, N, Mis, F, S""" DLBCL 201 223 7.15978e-92 8.33798e-92 1 1 0 LMOD2 442721 broad.mit.edu 37 7 123302950 123302950 + Missense_Mutation SNP G G T TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr7:123302950G>T ENST00000458573.2 + 2 1467 c.1310G>T c.(1309-1311)aGg>aTg p.R437M LMOD2_ENST00000456238.2_Intron NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 437 Pro-rich. cytoskeleton actin binding|tropomyosin binding tcttcccaaaggctgccacca 0.572000 7 2 8.12818e-05 8.59532e-05 1 1 0 UACA 55075 broad.mit.edu 37 15 70959158 70959158 + Missense_Mutation SNP G G C TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr15:70959158G>C ENST00000322954.6 - 16 4050 c.3865C>G c.(3865-3867)Cag>Gag p.Q1289E UACA_ENST00000560441.1_Missense_Mutation_p.Q1274E|UACA_ENST00000379983.2_Missense_Mutation_p.Q1276E|UACA_ENST00000539319.1_Missense_Mutation_p.Q1180E NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 1289 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 CGTTCCTTCTGATCCTTAATT 0.348000 7 50 0 0 1 0 0 FFAR2 2867 broad.mit.edu 37 19 35941555 35941555 + Silent SNP C C T TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr19:35941555C>T ENST00000599180.1 + 2 1019 c.939C>T c.(937-939)gaC>gaT p.D313D FFAR2_ENST00000246549.2_Silent_p.D313D|FFAR2_ENST00000601590.1_Intron O15552 FFAR2_HUMAN free fatty acid receptor 2 313 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CAAATGAGGACAGGGGTGTGG 0.587000 16 59 0 0 1 0 0 ALG12 79087 broad.mit.edu 37 22 50297568 50297568 + Missense_Mutation SNP A A C TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr22:50297568A>C ENST00000330817.5 - 10 1658 c.1385T>G c.(1384-1386)cTg>cGg p.L462R NM_024105.3 NP_077010.1 Q9BV10 ALG12_HUMAN ALG12, alpha-1,6-mannosyltransferase 462 dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3) 12 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247) GGTCAGGTTCAGACTCACACC 0.657000 11 48 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103182702 103182702 + Silent SNP T T C TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr11:103182702T>C ENST00000375735.2 + 79 11733 c.11589T>C c.(11587-11589)gcT>gcC p.A3863A DYNC2H1_ENST00000398093.3_Silent_p.A3870A|DYNC2H1_ENST00000334267.7_Intron NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3863 AAA 6 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GAGCTCATGCTCTCTTCAGTC 0.363000 45 4 0 0 1 0 0 IL6ST 3572 broad.mit.edu 37 5 55265552 55265552 + Missense_Mutation SNP C C T TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr5:55265552C>T ENST00000381298.2 - 4 508 c.196G>A c.(196-198)Gtc>Atc p.V66I IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000536319.1_Missense_Mutation_p.V66I|IL6ST_ENST00000502326.3_Missense_Mutation_p.V66I|IL6ST_ENST00000522633.2_Missense_Mutation_p.V66I|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.V66I|IL6ST_ENST00000381294.3_Missense_Mutation_p.V66I|IL6ST_ENST00000381287.4_Missense_Mutation_p.V66I|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000381286.3_Intron NM_001190981.1|NM_002184.3|NM_175767.2 NP_001177910.1|NP_002175.2|NP_786943.1 P40189 IL6RB_HUMAN interleukin 6 signal transducer (gp130, oncostatin M receptor) 66 Ig-like C2-type. interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) GTTTTCCAGACAATGTAATTA 0.318000 O hepatocellular ca 13 35 0 0 1 0 0 GPR137 56834 broad.mit.edu 37 11 64056826 64056826 + Missense_Mutation SNP C C T TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr11:64056826C>T ENST00000411458.1 + 9 1445 c.1417C>T c.(1417-1419)Ccg>Tcg p.P473S GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000438980.2_3'UTR|GPR137_ENST00000313074.3_Missense_Mutation_p.P415S|GPR137_ENST00000377702.4_3'UTR NM_001170726.1 NP_001164197.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 415 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 TGAGCTTGTGCCGTCCCCCTA 0.647000 5 98 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76555943 76555943 + Silent SNP A A T TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr16:76555943A>T ENST00000307431.8 + 18 2926 c.2541A>T c.(2539-2541)acA>acT p.T847T CNTNAP4_ENST00000377504.4_Silent_p.T799T|CNTNAP4_ENST00000478060.1_Silent_p.T775T|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Silent_p.T851T NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 848 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CAGCTCCGACAGTAGTGACTT 0.453000 47 103 0 0 1 0 0 STX7 8417 broad.mit.edu 37 6 132792624 132792624 + Missense_Mutation SNP A A C TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr6:132792624A>C ENST00000367941.2 - 5 478 c.365T>G c.(364-366)gTa>gGa p.V122G STX7_ENST00000448348.3_5'UTR|STX7_ENST00000367937.4_Missense_Mutation_p.V122G NM_003569.2 NP_003560.2 O15400 STX7_HUMAN syntaxin 7 122 intracellular protein transport|post-Golgi vesicle-mediated transport early endosome membrane|integral to membrane SNAP receptor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5) 19 Breast(56;0.0615) OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114) ACTGGCTCTTACTCGAGCAAC 0.428000 38 55 0 0 1 0 0 RD3 343035 broad.mit.edu 37 1 211652494 211652494 + Missense_Mutation SNP G G A TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr1:211652494G>A ENST00000367002.4 - 3 1635 c.472C>T c.(472-474)Cgc>Tgc p.R158C RD3_ENST00000484910.1_5'UTR NM_001164688.1|NM_183059.2 NP_001158160.1|NP_898882.1 Q7Z3Z2 RD3_HUMAN retinal degeneration 3 158 response to stimulus|visual perception central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689) GGCGAGATGCGCGCGCGGGTC 0.692000 9 31 0 0 1 0 0 MT-TL1 0 broad.mit.edu 37 MT 3242 3242 + RNA SNP G G A TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chrM:3242G>A ENST00000386347.1 + 0 13 ttaagatggcagagcccggta 0.433000 92 6 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49415614 49415614 + Missense_Mutation SNP G G C TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr12:49415614G>C ENST00000301067.7 - 54 16562 c.16563C>G c.(16561-16563)caC>caG p.H5521Q NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D AGGGGATCTTGTGCTGATCGT 0.512000 13 42 0 0 1 0 0 ATG9B 285973 broad.mit.edu 37 7 150715385 150715385 + Missense_Mutation SNP C C T TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr7:150715385C>T ENST00000605938.1 - 7 1943 c.1868G>A c.(1867-1869)cGa>cAa p.R623Q ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_Missense_Mutation_p.R623Q|ATG9B_ENST00000444312.1_Missense_Mutation_p.R109Q NM_173681.5 NP_775952.4 Q674R7 ATG9B_HUMAN autophagy related 9B 623 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTCACCGCTCGGTACTGCAG 0.711000 OREG0018444 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 27 0 0 1 0 0 TREML2 79865 broad.mit.edu 37 6 41162265 41162265 + Missense_Mutation SNP A A C TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr6:41162265A>C ENST00000483722.1 - 3 868 c.683T>G c.(682-684)aTc>aGc p.I228S NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 228 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) CTTAGTGGAGATGGATTCTGG 0.622000 21 18 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164704992 164704992 + Missense_Mutation SNP T T G TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr3:164704992T>G ENST00000264382.3 - 45 5193 c.5131A>C c.(5131-5133)Att>Ctt p.I1711L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1711 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GCAGCAACAATGAGCTTCATG 0.343000 HNSCC(35;0.089) 12 29 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113358408 113358408 + Silent SNP A A C TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr8:113358408A>C ENST00000297405.5 - 41 6604 c.6360T>G c.(6358-6360)ggT>ggG p.G2120G CSMD3_ENST00000455883.2_Silent_p.G2016G|CSMD3_ENST00000352409.3_Silent_p.G2050G|CSMD3_ENST00000343508.3_Silent_p.G2080G NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2120 CUB 12. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGAGGATCACACCACTGAAGT 0.378000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 71 48 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139400313 139400313 + Nonsense_Mutation SNP A A T TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr9:139400313A>T ENST00000277541.6 - 25 4110 c.4035T>A c.(4033-4035)tgT>tgA p.C1345* NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1345 EGF-like 34. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CGTCATTCTCACACGTGGCGC 0.726000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 9 2 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52431061 52431061 + Splice_Site SNP G G A TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr3:52431061G>A ENST00000420323.2 + 73 12048 c.e73+1 NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CGACCTCCACGTGAGTCCAGC 0.632000 6 10 0 0 1 0 0 ANXA6 309 broad.mit.edu 37 5 150512081 150512081 + Missense_Mutation SNP C C G TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr5:150512081C>G ENST00000354546.5 - 10 919 c.692G>C c.(691-693)cGa>cCa p.R231P ANXA6_ENST00000523714.1_Missense_Mutation_p.R199P|ANXA6_ENST00000356496.5_Missense_Mutation_p.R231P|ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000377751.5_Intron NM_001155.4 NP_001146.2 P08133 ANXA6_HUMAN annexin A6 231 melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding p.R231Q(1) endometrium(2)|kidney(1)|lung(9) 12 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGCTCCCCTCGGATGCTGGC 0.552000 9 19 0 0 1 0 0 MX2 4600 broad.mit.edu 37 21 42775253 42775253 + Missense_Mutation SNP C C G TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr21:42775253C>G ENST00000330714.3 + 12 1817 c.1633C>G c.(1633-1635)Ctt>Gtt p.L545V NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 545 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) ATTTTTCAACCTTAACCAAAC 0.393000 33 28 0 0 1 0 0 SARM1 23098 broad.mit.edu 37 17 26715423 26715423 + Missense_Mutation SNP G G C TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr17:26715423G>C ENST00000457710.3 + 7 2157 c.1686G>C c.(1684-1686)gaG>gaC p.E562D SARM1_ENST00000379061.4_3'UTR NM_015077.2 NP_055892.2 Q6SZW1 SARM1_HUMAN sterile alpha and TIR motif containing 1 596 TIR. innate immune response cytoplasm|intrinsic to membrane binding|transmembrane receptor activity cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 12 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) TTGATGTGGAGAAGCTGGAAG 0.547000 30 43 0 0 1 0 0 ZZZ3 26009 broad.mit.edu 37 1 78044547 78044547 + Missense_Mutation SNP C C A TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr1:78044547C>A ENST00000370801.3 - 11 2565 c.2090G>T c.(2089-2091)aGc>aTc p.S697I ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.S203I NM_015534.4 NP_056349.1 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 697 HTH myb-type. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2) 39 CTGTACTCGGCTGGCAACCTA 0.343000 5 10 1.23904e-05 1.35704e-05 1 1 0 C8orf76 84933 broad.mit.edu 37 8 124250155 124250155 + Silent SNP G G T TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr8:124250155G>T ENST00000276704.4 - 3 291 c.240C>A c.(238-240)atC>atA p.I80I ZHX1-C8ORF76_ENST00000357082.4_Silent_p.I48I|C8orf76_ENST00000521310.1_5'UTR NM_032847.2 NP_116236.1 Q96K31 CH076_HUMAN chromosome 8 open reading frame 76 80 binding NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4) 17 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) ATTTTTCAGAGATACTGGAAT 0.423000 34 45 3.11337e-16 3.49305e-16 1 1 0 RP4-749H3.1 0 broad.mit.edu 37 1 20732487 20732488 + RNA INS - - G rs147656955 by1000genomes TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr1:20732487_20732488insG ENST00000426428.1 - 0 282 NR_033887.1 TACCGTGGGGAGGGGGGATTAG 0.584 3 4 --- --- --- --- RP11-417J8.6 0 broad.mit.edu 37 1 142640998 142640999 + RNA DEL AA AA - TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr1:142640998_142640999delAA ENST00000369381.2 - 0 2507 RP11-417J8.3_ENST00000426408.1_lincRNA gcaacatggcaaaaccctctct 0.500 2 4 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145109259 145109260 + RNA INS - - A rs61810755 by1000genomes TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr1:145109259_145109260insA ENST00000453618.1 + 0 512 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding cactccagcccgggggcagagc 0.480 3 6 --- --- --- --- C1orf43 25912 broad.mit.edu 37 1 154179938 154179939 + Frame_Shift_Del DEL AC AC - TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr1:154179938_154179939delAC ENST00000368521.5 - 7 950_951 c.752_753delGT c.(751-753)afs p.S251fs C1orf43_ENST00000350592.3_Frame_Shift_Del_p.S217fs|C1orf43_ENST00000368519.1_Frame_Shift_Del_p.S233fs|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000362076.4_Frame_Shift_Del_p.S199fs NM_001098616.1 NP_001092086.1 Q9BWL3 CA043_HUMAN chromosome 1 open reading frame 43 251 integral to membrane coenzyme binding|oxidoreductase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 10 all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877) GTCACAGAGTACTCTCCAATGT 0.510 9 149 --- --- --- --- FMNL2 114793 broad.mit.edu 37 2 153415331 153415331 + Frame_Shift_Del DEL C C - TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr2:153415331delC ENST00000288670.9 + 5 804 c.437delC c.(436-438)ggfs p.A146fs NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 146 GBD/FH3. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 GCACAGTACGCGGTAACGTAA 0.378 6 13 --- --- --- --- DPP4 1803 broad.mit.edu 37 2 162865080 162865089 + Frame_Shift_Del DEL TCCCACCGGG TCCCACCGGG - rs138430103 by1000genomes TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr2:162865080_162865089delTCCCACCGGG ENST00000360534.3 - 22 2530_2539 c.1970_1979delCCCGGTGGGA c.(1969-1980)tgfs p.SRWE657fs DPP4_ENST00000491591.1_5'UTR NM_001935.3 NP_001926.2 P27487 DPP4_HUMAN dipeptidyl-peptidase 4 657 cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) ACCATAGTACTCCCACCGGGATACAGGCGC 0.471 24 19 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 150877759 150877760 + Frame_Shift_Ins INS - - TCGAGTA TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr3:150877759_150877760insTCGAGTA ENST00000474524.1 + 7 1016_1017 c.978_979insTCGAGTA c.(976-981)aacgagfs p.E327fs MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Frame_Shift_Ins_p.E327fs|MED12L_ENST00000309237.4_Frame_Shift_Ins_p.E327fs NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 327 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GACCAAACAACTCGAGTATCGG 0.609 7 205 --- --- --- --- AF146191.4 0 broad.mit.edu 37 4 190767937 190767937 + RNA DEL C C - rs67778127 TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr4:190767937delC ENST00000511785.1 - 0 425 attctccgtgccgtgtccctc 0.642 3 6 --- --- --- --- TNRC18 84629 broad.mit.edu 37 7 5352561 5352563 + In_Frame_Del DEL GAG GAG - TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr7:5352561_5352563delGAG ENST00000399537.4 - 27 8307_8309 c.7959_7961delCTC c.(7957-7962)tct>tc p.SS2669del TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2669del O15417 TNC18_HUMAN trinucleotide repeat containing 18 2669 Ser-rich. DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) ggacgaggaagaggaggaggagg 0.606 2 4 --- --- --- --- RP4-798C17.6 0 broad.mit.edu 37 7 144030382 144030383 + RNA DEL AC AC - TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr7:144030382_144030383delAC ENST00000463561.1 - 0 411 RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000467944.1_RNA|RP4-798C17.6_ENST00000488041.1_RNA|RP4-798C17.6_ENST00000493539.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000486094.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000475089.1_RNA|RP4-798C17.6_ENST00000496968.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA|RP4-798C17.6_ENST00000478925.1_RNA ctgaaaatgtacagactttttt 0.356 2 4 --- --- --- --- RP11-22C11.2 0 broad.mit.edu 37 8 95650726 95650728 + RNA DEL ATC ATC - TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr8:95650726_95650728delATC ENST00000562760.1 - 0 967_969 NR_034034.1 tgacctcgtgatccgcctcggcc 0.502 2 4 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68409713 68409714 + RNA INS - - ACAC TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr9:68409713_68409714insACAC ENST00000417843.2 - 0 67 AAGAAAAAAAAACACGTCTCAG 0.554 2 4 --- --- --- --- DPH6-AS1 0 broad.mit.edu 37 15 36067166 36067166 + RNA DEL C C - TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr15:36067166delC ENST00000501169.2 + 0 462 NR_038251.1 CTCCAACTTACCCATTCTATA 0.403 2 4 --- --- --- --- AC005562.1 0 broad.mit.edu 37 17 28960996 28960997 + RNA INS - - TC TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr17:28960996_28960997insTC ENST00000417404.1 + 0 1269 LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA tttttctttttttttttttttt 0.302 2 4 --- --- --- --- LIPE-AS1 0 broad.mit.edu 37 19 43155211 43155211 + RNA DEL C C - TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr19:43155211delC ENST00000594688.1 + 0 1450 LIPE-AS1_ENST00000594624.2_RNA NR_073179.1 tgtccctccaccccctcccaa 0.478 2 4 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29589385 29589385 + RNA DEL T T - TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr20:29589385delT ENST00000432067.1 - 0 152 tgatttcttcttttacccaat 0.299 2 4 --- --- --- --- CHD6 0 broad.mit.edu 37 20 40113160 40113161 + Frame_Shift_Del DEL TC TC - rs146144596 TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr20:40113160_40113161delTC ENST00000373233.3 - 15 2265_2266 c.2088_2089delGA c.(2086-2091)gacgfs p.ET696fs CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 696 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TCAATGATCGTCTCTTGTTTGG 0.455 64 71 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11058882 11058882 + RNA DEL A A - rs145149071 TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr21:11058882delA ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AATGTGGGGGAAAAAAATTAG 0.358 4 3 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11096512 11096516 + RNA DEL GTTTT GTTTT - TCGA-N5-A4RV-01A-21D-A28R-08 TCGA-N5-A4RV-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 058c10d9-88b8-4ac5-90a8-181dbad8b90c 17a3c4cd-4c9a-4b11-afae-e185e2f154f8 g.chr21:11096512_11096516delGTTTT ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccATTTTTAAgttttgttttgtttt 0.493 4 8 --- --- --- ---