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 RP11-377D9.3 0 broad.mit.edu 37 12 13154542 13154542 + RNA SNP C C A TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr12:13154542C>A ENST00000543321.1 + 0 31 HTR7P1_ENST00000535469.1_RNA GACGGTGGCGCCGAACCGGTC 0.746000 2 0 1 1 1 1 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 10 3 2.17888e-05 2.51045e-05 1 1 0 HCN4 10021 broad.mit.edu 37 15 73616239 73616239 + Missense_Mutation SNP C C T TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr15:73616239C>T ENST00000261917.3 - 8 3188 c.2195G>A c.(2194-2196)gGc>gAc p.G732D NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 732 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) GTTGAAGACGCCGGAGTTGAG 0.597000 22 30 0 0 1 0 0 PHC1 1911 broad.mit.edu 37 12 9075367 9075367 + Missense_Mutation SNP C C G TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr12:9075367C>G ENST00000433083.2 + 5 605 c.460C>G c.(460-462)Cat>Gat p.H154D PHC1_ENST00000543824.1_Missense_Mutation_p.H199D|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000536844.1_5'UTR|PHC1_ENST00000544916.1_Missense_Mutation_p.H199D P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) 199 multicellular organismal development PcG protein complex DNA binding|zinc ion binding p.H199Y(2) breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 TCCTGGAGTTCATGCAGATGC 0.592000 9 9 0 0 1 0 0 MRPS11 64963 broad.mit.edu 37 15 89021195 89021195 + Silent SNP G G A TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr15:89021195G>A ENST00000325844.4 + 6 835 c.570G>A c.(568-570)aaG>aaA p.K190K MRPS11_ENST00000353598.6_Silent_p.K157K NM_022839.3 NP_073750.2 P82912 RT11_HUMAN mitochondrial ribosomal protein S11 190 DNA damage response, detection of DNA damage|translation mitochondrial small ribosomal subunit structural constituent of ribosome large_intestine(3) 3 Lung NSC(78;0.203) BRCA - Breast invasive adenocarcinoma(143;0.188) GCCCCAGGAAGGCTCGGAAGC 0.587000 38 31 0 0 1 0 0 AMOT 154796 broad.mit.edu 37 X 112022454 112022454 + Silent SNP C C T TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chrX:112022454C>T ENST00000371959.3 - 10 2927 c.2928G>A c.(2926-2928)ccG>ccA p.P976P AMOT_ENST00000304758.1_Silent_p.P567P|AMOT_ENST00000524145.1_Silent_p.P976P|AMOT_ENST00000371962.1_Silent_p.P744P NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 976 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 GAACTGGAGCCGGAGCAGCTG 0.627000 9 8 0 0 1 0 0 DLGAP4 22839 broad.mit.edu 37 20 35061024 35061024 + Missense_Mutation SNP G G A TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr20:35061024G>A ENST00000373913.3 + 3 1384 c.904G>A c.(904-906)Gcc>Acc p.A302T DLGAP4_ENST00000339266.5_Missense_Mutation_p.A302T|DLGAP4_ENST00000373907.2_Missense_Mutation_p.A302T|DLGAP4_ENST00000401952.2_Missense_Mutation_p.A302T Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 302 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CCTCAGCCACGCCCACGAGGT 0.637000 4 17 0 0 1 0 0 FAM86DP 0 broad.mit.edu 37 3 75475709 75475709 + RNA SNP T T C TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr3:75475709T>C ENST00000459803.1 - 0 820 NR_024241.1 p.I261V(1) CTCCGCAGGATCCCGACCAGC 0.562000 3 42 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66218763 66218763 + Missense_Mutation SNP C C A TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr4:66218763C>A ENST00000273854.3 - 13 2895 c.2295G>T c.(2293-2295)ttG>ttT p.L765F EPHA5_ENST00000511294.1_Missense_Mutation_p.L766F|EPHA5_ENST00000354839.4_Missense_Mutation_p.L743F|EPHA5_ENST00000432638.2_Missense_Mutation_p.L602F NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 765 Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 ATCCTACCTTCAAAAATGTAT 0.358000 TSP Lung(17;0.13) 9 13 0.00621372 0.00672096 1 1 0 ANKRD6 22881 broad.mit.edu 37 6 90276788 90276788 + Missense_Mutation SNP C C G TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr6:90276788C>G ENST00000369408.5 + 2 442 c.93C>G c.(91-93)aaC>aaG p.N31K ANKRD6_ENST00000339746.4_Missense_Mutation_p.N31K|ANKRD6_ENST00000522441.1_Missense_Mutation_p.N31K|ANKRD6_ENST00000485637.1_Missense_Mutation_p.N31K|ANKRD6_ENST00000447838.2_Missense_Mutation_p.N31K|ANKRD6_ENST00000520793.1_Missense_Mutation_p.N31K|ANKRD6_ENST00000520886.2_Intron NM_001242813.1 NP_001229742.1 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 31 protein binding NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2) 21 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) AGCTCATCAACAAGGGCGCCA 0.502000 6 9 0 0 1 0 0 SLC11A1 6556 broad.mit.edu 37 2 219249939 219249939 + Missense_Mutation SNP G G A TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr2:219249939G>A ENST00000233202.6 + 4 683 c.343G>A c.(343-345)Gtg>Atg p.V115M SLC11A1_ENST00000539932.1_5'UTR|SLC11A1_ENST00000473367.1_3'UTR NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 115 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity p.V115M(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACGTCTGGGCGTGGTGACAGG 0.632000 41 112 0 0 1 0 0 POTED 317754 broad.mit.edu 37 21 15011886 15011886 + Missense_Mutation SNP G G A TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr21:15011886G>A ENST00000299443.5 + 10 1512 c.1460G>A c.(1459-1461)gGa>gAa p.G487E NM_174981.3|NM_207355.2 NP_778146.2|NP_997238.2 Q86YR6 POTED_HUMAN POTE ankyrin domain family, member D 487 plasma membrane p.G487E(1) central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 33 CAGAACACTGGAATATCACAA 0.323000 3 30 0 0 1 0 0 ZNF638 27332 broad.mit.edu 37 2 71582903 71582903 + Missense_Mutation SNP C C A TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr2:71582903C>A ENST00000409544.1 + 3 2002 c.1372C>A c.(1372-1374)Cgt>Agt p.R458S ZNF638_ENST00000377802.2_Missense_Mutation_p.R458S|ZNF638_ENST00000355812.3_Missense_Mutation_p.R458S|ZNF638_ENST00000264447.4_Missense_Mutation_p.R458S|ZNF638_ENST00000410075.1_3'UTR NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 458 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 TCGACAGTTACGTCAACAGTA 0.284000 3 7 0.115264 0.117481 1 1 0 THBS2 7058 broad.mit.edu 37 6 169626326 169626326 + Silent SNP G G A TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr6:169626326G>A ENST00000366787.3 - 17 2736 c.2487C>T c.(2485-2487)gaC>gaT p.D829D XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 829 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CCCCCACACCGTCACCATCCG 0.542000 46 49 0 0 1 0 0 CYP2D7P1 0 broad.mit.edu 37 22 42538732 42538732 + RNA SNP C C A rs4992865 TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr22:42538732C>A ENST00000358097.4 - 0 587 CYP2D7P1_ENST00000433992.1_RNA endometrium(1) 1 CACCCACCGGCTTGGTCGGCG 0.682000 4 1 0.0293803 0.0305325 1 1 0 NPC2 10577 broad.mit.edu 37 14 74951225 74951225 + Missense_Mutation SNP G G A TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr14:74951225G>A ENST00000541064.1 - 3 262 c.256C>T c.(256-258)Ccc>Tcc p.P86S NPC2_ENST00000238633.2_Missense_Mutation_p.P86S|NPC2_ENST00000434013.2_Missense_Mutation_p.P86S|NPC2_ENST00000557510.1_Missense_Mutation_p.P86S|NPC2_ENST00000555619.1_Missense_Mutation_p.P86S P61916 NPC2_HUMAN Niemann-Pick disease, type C2 86 P -> L (in dbSNP:rs4688). cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus extracellular region|lysosome cholesterol binding|enzyme binding breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.00149) TCAGGAATGGGAAAGGGAACT 0.433000 37 52 0 0 1 0 0 TTLL3 26140 broad.mit.edu 37 3 9874913 9874913 + Missense_Mutation SNP G G T TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr3:9874913G>T ENST00000547186.1 + 11 1896 c.1680G>T c.(1678-1680)caG>caT p.Q560H TTLL3_ENST00000426895.4_Missense_Mutation_p.Q703H|TTLL3_ENST00000397241.1_Intron|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000427853.3_Intron|TTLL3_ENST00000430793.1_Missense_Mutation_p.Q348H|ARPC4-TTLL3_ENST00000397256.1_Intron|TTLL3_ENST00000383827.1_Intron NM_001025930.3 NP_001021100.3 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 560 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) TGCTGACCCAGCGAGGCTCTG 0.647000 11 23 4.68919e-08 5.52282e-08 1 1 0 FUCA1 2517 broad.mit.edu 37 1 24175172 24175172 + Missense_Mutation SNP C C T rs145603001 byFrequency TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr1:24175172C>T ENST00000374479.3 - 6 1134 c.1127G>A c.(1126-1128)cGg>cAg p.R376Q NM_000147.4 NP_000138.2 P04066 FUCO_HUMAN fucosidase, alpha-L- 1, tissue 376 fucose metabolic process|glycosaminoglycan catabolic process lysosome alpha-L-fucosidase activity|cation binding breast(1)|endometrium(1)|large_intestine(3)|lung(3) 8 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144) CCATTGCACCCGCCATGGTTT 0.478000 10 20 0 0 1 0 0 SREBF2 6721 broad.mit.edu 37 22 42299024 42299024 + Silent SNP C C T TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr22:42299024C>T ENST00000361204.4 + 17 3124 c.2958C>T c.(2956-2958)ctC>ctT p.L986L SREBF2_ENST00000491541.1_3'UTR NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 986 cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 GGACAGCGCTCTGGCAAAAAC 0.657000 4 0 0 0 1 0 0 PTP4A3 11156 broad.mit.edu 37 8 142441037 142441037 + Missense_Mutation SNP G G A TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr8:142441037G>A ENST00000520105.1 + 5 1283 c.340G>A c.(340-342)Gga>Aga p.G114R PTP4A3_ENST00000524028.1_Missense_Mutation_p.G53R|PTP4A3_ENST00000349124.1_Missense_Mutation_p.G114R|PTP4A3_ENST00000521578.1_Missense_Mutation_p.G139R|PTP4A3_ENST00000329397.1_Missense_Mutation_p.G139R O75365 TP4A3_HUMAN protein tyrosine phosphatase type IVA, member 3 139 Tyrosine-protein phosphatase. early endosome|plasma membrane identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(2)|large_intestine(1)|lung(3) 6 all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0474) GAAGCGCCGCGGAGCCATCAA 0.597000 15 17 0 0 1 0 0 TONSL 4796 broad.mit.edu 37 8 145661426 145661426 + Missense_Mutation SNP C C T TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr8:145661426C>T ENST00000409379.3 - 17 2419 c.2390G>A c.(2389-2391)cGg>cAg p.R797Q AC084125.4_ENST00000544423.1_RNA NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 797 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 GCCCACACCCCGGATGGCTGC 0.726000 11 2 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153131272 153131272 + Missense_Mutation SNP G G A TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chrX:153131272G>A ENST00000370060.1 - 20 2623 c.2434C>T c.(2434-2436)Ccc>Tcc p.P812S L1CAM_ENST00000370057.3_Missense_Mutation_p.P812S|L1CAM_ENST00000361699.4_Missense_Mutation_p.P812S|L1CAM_ENST00000543994.1_Missense_Mutation_p.P814S|L1CAM_ENST00000538883.1_Missense_Mutation_p.P814S|L1CAM_ENST00000370055.1_Missense_Mutation_p.P807S|L1CAM_ENST00000361981.3_Missense_Mutation_p.P807S NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 812 Fibronectin type-III 3. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ATTGCCTGGGGGTCTGGAAAC 0.592000 50 55 0 0 1 0 0 CASQ1 844 broad.mit.edu 37 1 160168791 160168791 + Missense_Mutation SNP C C A TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr1:160168791C>A ENST00000368079.3 + 9 1189 c.914C>A c.(913-915)aCt>aAt p.T305N CASQ1_ENST00000467691.1_Missense_Mutation_p.T32N|CASQ1_ENST00000368078.3_Missense_Mutation_p.T311N NM_001231.4 NP_001222.3 P31415 CASQ1_HUMAN calsequestrin 1 (fast-twitch, skeletal muscle) 311 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CAAGATAACACTGAAAACCCA 0.502000 19 31 5.03518e-11 6.20616e-11 1 1 0 AKR1C3 8644 broad.mit.edu 37 10 5144364 5144364 + Silent SNP T T C TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr10:5144364T>C ENST00000380554.3 + 6 1294 c.642T>C c.(640-642)gtT>gtC p.V214V AKR1C3_ENST00000605149.1_Silent_p.V191V|AKR1C3_ENST00000439082.2_Silent_p.V95V NM_001253908.1|NM_003739.5 NP_001240837.1|NP_003730.4 P42330 AK1C3_HUMAN aldo-keto reductase family 1, member C3 214 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1) 14 Dimethyl sulfoxide(DB01093)|NADH(DB00157) TTGTTCTGGTTGCCTATAGTG 0.383000 20 30 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102506314 102506314 + RNA SNP C C G TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr15:102506314C>G ENST00000557932.1 + 0 60 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 CCTGGCAGGTCAGACCTATGC 0.647000 3 6 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578556 7578556 + Splice_Site SNP T T G TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr17:7578556T>G ENST00000420246.2 - 5 508 c.e5-2 TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 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.?(34)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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) AGGGGAGTACTGTAGGAAGAG 0.552000 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) 23 3 0 0 1 0 0 CYP2D7P1 0 broad.mit.edu 37 22 42538733 42538733 + RNA SNP T T G rs4992864 TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr22:42538733T>G ENST00000358097.4 - 0 586 CYP2D7P1_ENST00000433992.1_RNA endometrium(1) 1 ACCCACCGGCTTGGTCGGCGA 0.682000 4 1 0 0 1 0 0 TRAPPC11 60684 broad.mit.edu 37 4 184606530 184606530 + Missense_Mutation SNP T T G TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr4:184606530T>G ENST00000334690.6 + 17 1938 c.1736T>G c.(1735-1737)aTa>aGa p.I579R TRAPPC11_ENST00000357207.4_Missense_Mutation_p.I579R|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.I185R NM_021942.5 NP_068761.4 Q7Z392 CD041_HUMAN trafficking protein particle complex 11 579 ATTTTCACAATAGGAGTACAG 0.408000 47 43 0 0 1 0 0 MUC5AC 4586 broad.mit.edu 37 11 1155683 1155683 + Silent SNP G G A TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr11:1155683G>A ENST00000356191.2 + 5 369 c.369G>A c.(367-369)ccG>ccA p.P123P mucin 5AC, oligomeric mucus/gel-forming p.R124L(1) NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) CAGCTACGCCGCAGCCAGGAG 0.637000 27 2 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178921552 178921552 + Missense_Mutation SNP A A C TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr3:178921552A>C ENST00000263967.3 + 5 1191 c.1034A>C c.(1033-1035)aAt>aCt p.N345T NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 345 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.N345I(4)|p.N345S(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) ACCTACGTGAATGTAAATATT 0.303000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 19 16 0 0 1 0 0 FBXW7 0 broad.mit.edu 37 4 153249384 153249384 + Missense_Mutation SNP C C T TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr4:153249384C>T ENST00000281708.4 - 9 2623 c.1394G>A c.(1393-1395)cGt>cAt p.R465H FBXW7_ENST00000296555.5_Missense_Mutation_p.R347H|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385H|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465H|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289H|FBXW7_ENST00000603548.1_Missense_Mutation_p.R465H NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 465 R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R465H(69)|p.R385H(16)|p.R226H(16)|p.R465L(4)|p.R347H(4)|p.R465Y(2)|p.?(1)|p.R385L(1)|p.R226L(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) ATGCATACAACGCACAGTGGA 0.408000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 39 58 0 0 1 0 0 BMF 90427 broad.mit.edu 37 15 40398008 40398008 + Nonsense_Mutation SNP G G A TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr15:40398008G>A ENST00000354670.4 - 3 514 c.280C>T c.(280-282)Cga>Tga p.R94* BMF_ENST00000431415.3_Nonsense_Mutation_p.R94*|BMF_ENST00000220446.4_Nonsense_Mutation_p.R94*|BMF_ENST00000558774.1_Nonsense_Mutation_p.R94*|BMF_ENST00000561360.1_Nonsense_Mutation_p.R94*|BMF_ENST00000561282.1_Nonsense_Mutation_p.R94*|BMF_ENST00000559701.1_Nonsense_Mutation_p.R94*|BMF_ENST00000397573.1_Nonsense_Mutation_p.R94* NM_001003940.1 NP_001003940.1 Q96LC9 BMF_HUMAN Bcl2 modifying factor 94 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria cytosol|mitochondrial outer membrane|myosin complex|plasma membrane protein binding endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 6 all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516) TAAAAGAGTCGCTGGGGTTCC 0.577000 50 71 0 0 1 0 0 TAF5 6877 broad.mit.edu 37 10 105139460 105139460 + Missense_Mutation SNP G G T TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr10:105139460G>T ENST00000369839.3 + 4 1232 c.1209G>T c.(1207-1209)aaG>aaT p.K403N TAF5_ENST00000351396.4_Missense_Mutation_p.K403N NM_006951.3 NP_008882.2 Q15542 TAF5_HUMAN TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa 403 Poly-Lys. histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2) 15 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) CTAAAAAGAAGAAGCCTAAAA 0.373000 14 20 3.27435e-08 3.94411e-08 1 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 3 6 0 0 1 0 0 C1QB 713 broad.mit.edu 37 1 22986093 22986093 + Silent SNP C C T TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr1:22986093C>T ENST00000509305.1 + 2 484 c.138C>T c.(136-138)ggC>ggT p.G46G C1QB_ENST00000314933.6_Silent_p.G48G P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 48 Collagen-like 1. 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) GGACACCTGGCCCCGATGGCC 0.602000 9 14 0 0 1 0 0 ZIC3 7547 broad.mit.edu 37 X 136649210 136649210 + Missense_Mutation SNP C C A TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chrX:136649210C>A ENST00000287538.5 + 1 910 c.360C>A c.(358-360)ttC>ttA p.F120L ZIC3_ENST00000370606.3_Missense_Mutation_p.F120L NM_003413.3 NP_003404.1 O60481 ZIC3_HUMAN Zic family member 3 120 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(192;0.000127) AGTTTCTGTTCCGCCAGCGCA 0.677000 4 2 0.00909568 0.00964142 1 1 0 FAM230B 0 broad.mit.edu 37 22 21538171 21538171 + RNA SNP G G A TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr22:21538171G>A ENST00000451257.1 + 0 1157 CGAGGACGCCGCCCAGGGCAT 0.726000 2 0 0 0 1 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6121 6121 + Missense_Mutation SNP T T C TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chrM:6121T>C ENST00000361624.2 + 1 218 c.218T>C c.(217-219)aTc>aCc p.73_73insT mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 AGTAATACCCATCATAATCGG 0.473000 63 20 0 0 1 0 0 ATP4A 495 broad.mit.edu 37 19 36046394 36046394 + Missense_Mutation SNP G G A TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr19:36046394G>A ENST00000262623.3 - 14 2133 c.2105C>T c.(2104-2106)gCg>gTg p.A702V NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 702 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) GCTGGTGCGCGCAAACACCAT 0.662000 5 163 0 0 1 0 0 SERPINB2 5055 broad.mit.edu 37 18 61570285 61570285 + Missense_Mutation SNP G G A TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr18:61570285G>A ENST00000457692.1 + 9 1327 c.994G>A c.(994-996)Gcc>Acc p.A332T SERPINB2_ENST00000299502.4_Missense_Mutation_p.A332T NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 332 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) CATGGAGGACGCCTTCAACAA 0.463000 22 33 0 0 1 0 0 POTED 317754 broad.mit.edu 37 21 14982927 14982927 + Silent SNP C C T TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr21:14982927C>T ENST00000299443.5 + 1 430 c.378C>T c.(376-378)agC>agT p.S126S NM_174981.3|NM_207355.2 NP_778146.2|NP_997238.2 Q86YR6 POTED_HUMAN POTE ankyrin domain family, member D 126 plasma membrane central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 33 ACGACCACAGCGCCTTCATGG 0.597000 50 89 0 0 1 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17944985 17944987 + In_Frame_Del DEL CCT CCT - TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr1:17944985_17944987delCCT ENST00000375408.3 + 1 175_177 c.137_139delCCT c.(136-141)ccc>c p.PS46del ARHGEF10L_ENST00000167825.4_In_Frame_Del_p.PS46del|ARHGEF10L_ENST00000361221.3_Intron|ARHGEF10L_ENST00000469726.1_Intron|ARHGEF10L_ENST00000452522.1_Intron|ARHGEF10L_ENST00000434513.1_Intron|ARHGEF10L_ENST00000375415.1_Intron|ARHGEF10L_ENST00000375420.3_Intron Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 0 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) ATCCGCTGTCcctcctcctcctc 0.680 3 4 --- --- --- --- RP11-435B5.4 0 broad.mit.edu 37 1 143412865 143412865 + RNA DEL A A - TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr1:143412865delA ENST00000423249.1 - 0 59 aggctgacagaaggatggaca 0.413 2 4 --- --- --- --- SETDB1 9869 broad.mit.edu 37 1 150933180 150933181 + Frame_Shift_Del DEL GT GT - TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr1:150933180_150933181delGT ENST00000271640.5 + 16 2832_2833 c.2642_2643delGT c.(2641-2643)afs p.S881fs SETDB1_ENST00000368969.4_Frame_Shift_Del_p.S881fs|SETDB1_ENST00000459773.1_3'UTR NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 881 SET. 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) TCTGACAGCAGTGGTGTAGACT 0.475 28 47 --- --- --- --- SPRTN 83932 broad.mit.edu 37 1 231487057 231487057 + Frame_Shift_Del DEL A A - TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr1:231487057delA ENST00000391858.4 + 4 1738 c.458delA c.(457-459)ctfs p.H153fs SPRTN_ENST00000295050.7_Frame_Shift_Del_p.H153fs|SPRTN_ENST00000469904.1_3'UTR|SPRTN_ENST00000008440.9_Frame_Shift_Del_p.H110fs SprT-like N-terminal domain CAGGTATACCATACTTTTCAC 0.413 19 64 --- --- --- --- AC010745.2 0 broad.mit.edu 37 2 16407935 16407935 + RNA DEL T T - rs78167150 TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr2:16407935delT ENST00000420404.1 + 0 165 CAGTCCCCCCTCTTCCCCAGT 0.557 2 4 --- --- --- --- AC007392.4 0 broad.mit.edu 37 2 66926854 66926855 + RNA INS - - A TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr2:66926854_66926855insA ENST00000433432.1 - 0 594 CACACTCAGGGAAAAAAAAAAA 0.337 2 4 --- --- --- --- AC010987.5 0 broad.mit.edu 37 2 67909275 67909276 + RNA INS - - T rs72538484 by1000genomes TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr2:67909275_67909276insT ENST00000419809.1 - 0 126 TAAATAGTTGATTTTTTTTTGG 0.386 5 2 --- --- --- --- AC010987.6 0 broad.mit.edu 37 2 68023828 68023829 + RNA DEL AC AC - rs150402203 TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr2:68023828_68023829delAC ENST00000457448.1 - 0 180 Tcacgcacatacacacacacac 0.436 3 5 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91875150 91875151 + RNA INS - - A TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr2:91875150_91875151insA ENST00000436174.1 - 0 1044 AACCCAGACTGAAAAAAAAATG 0.455 2 4 --- --- --- --- AC018730.3 0 broad.mit.edu 37 2 105485400 105485400 + RNA DEL G G - TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr2:105485400delG ENST00000433433.1 - 0 207 RP11-13J10.1_ENST00000598623.1_RNA GGGTGAGGGTGGGGCAGGGAG 0.418 2 4 --- --- --- --- AC097532.2 0 broad.mit.edu 37 2 133046597 133046597 + RNA DEL A A - rs111715068 TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr2:133046597delA ENST00000440802.1 - 0 101 TCTGAGCTCGAGGCCCCCCAA 0.597 4 4 --- --- --- --- RP11-141E13.1 0 broad.mit.edu 37 4 17032166 17032166 + RNA DEL T T - TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr4:17032166delT ENST00000511735.1 - 0 154 TGGAAACTAGTTTTAATGCAC 0.463 2 4 --- --- --- --- RP11-231C18.1 0 broad.mit.edu 37 4 55201975 55201975 + RNA DEL A A - TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr4:55201975delA ENST00000511634.1 + 0 43 CAGGAACTCTAAAAGGGGGTG 0.458 2 4 --- --- --- --- PIK3R1 5295 broad.mit.edu 37 5 67576381 67576382 + Frame_Shift_Ins INS - - C TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr5:67576381_67576382insC ENST00000521381.1 + 6 1276_1277 c.660_661insC c.(658-663)atagctfs p.A221fs PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.A221fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.A221fs|PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.A221fs NM_181523.2 NP_852664.1 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 221 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) AAGAATATATTCAGCTATTGAA 0.351 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 104 90 --- --- --- --- RP5-1120P11.1 0 broad.mit.edu 37 6 43976440 43976440 + RNA DEL G G - TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr6:43976440delG ENST00000422059.1 - 0 156 CTCAGGCCCTGTGCACCTCTT 0.577 2 4 --- --- --- --- INHBA-AS1 0 broad.mit.edu 37 7 41812982 41812983 + RNA INS - - T TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr7:41812982_41812983insT ENST00000415848.2 + 0 457 NR_027118.1 gccTACTGTCATTTTTTTATTC 0.460 2 4 --- --- --- --- PMS2P4 0 broad.mit.edu 37 7 66762433 66762433 + RNA DEL A A - rs68053451 TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr7:66762433delA ENST00000414507.1 - 0 184 tctcaaaaagaaaaaaaaaaa 0.408 3 4 --- --- --- --- RP4-798C17.6 0 broad.mit.edu 37 7 144027120 144027121 + RNA INS - - A TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr7:144027120_144027121insA ENST00000463561.1 - 0 411 RP4-798C17.6_ENST00000496968.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA|RP4-798C17.6_ENST00000478925.1_RNA|RP4-798C17.6_ENST00000493539.1_RNA|RP4-798C17.6_ENST00000488041.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000475089.1_RNA|RP4-798C17.6_ENST00000467944.1_RNA|RP4-798C17.6_ENST00000486094.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA ccctgtctcagaaaaaaaaaaa 0.441 2 4 --- --- --- --- ERICH1-AS1 0 broad.mit.edu 37 8 1047564 1047565 + RNA INS - - C TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr8:1047564_1047565insC ENST00000522092.1 + 0 332 ERICH1-AS1_ENST00000578889.1_RNA NR_073397.1|NR_073466.1 GGAGCTGGGAGCCCGGGGCAGG 0.668 2 4 --- --- --- --- RP11-124B13.1 0 broad.mit.edu 37 8 5921321 5921321 + RNA DEL A A - TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr8:5921321delA ENST00000519555.1 - 0 250 gtggcagggtaggaggctaac 0.443 2 4 --- --- --- --- MROH5 389690 broad.mit.edu 37 8 142485425 142485425 + RNA DEL C C - TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr8:142485425delC ENST00000430863.1 - 0 1749 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 GGTGACTGTGCCCAGGAGCCA 0.617 2 4 --- --- --- --- RP11-561O23.5 0 broad.mit.edu 37 9 70938998 70938998 + RNA DEL A A - rs56822289 TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr9:70938998delA ENST00000429953.2 + 0 1335 GTGCCTCCCCACCTGCTATGG 0.706 2 4 --- --- --- --- TTF1 7270 broad.mit.edu 37 9 135251330 135251330 + Frame_Shift_Del DEL A A - TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr9:135251330delA ENST00000334270.2 - 11 2729 c.2690delT c.(2689-2691)tgfs p.L897fs TTF1_ENST00000461970.1_5'UTR NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 897 negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) ttggcctcccaaagtactgga 0.483 4 9 --- --- --- --- CCNYL2 414194 broad.mit.edu 37 10 42950275 42950275 + RNA DEL C C - TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr10:42950275delC ENST00000483242.3 - 0 623 NR_103829.1 cyclin Y-like 2 breast(2)|endometrium(1)|lung(3)|ovary(1) 7 TGCCACCCCTCCCCCACAGCT 0.647 2 4 --- --- --- --- RP11-25I9.2 0 broad.mit.edu 37 11 108901835 108901836 + RNA INS - - AG TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr11:108901835_108901836insAG ENST00000526041.1 - 0 225 GGCTGGAGTGCTGGCTTCCTGC 0.545 3 3 --- --- --- --- SRP14-AS1 0 broad.mit.edu 37 15 40342650 40342651 + RNA INS - - TG rs10592603 by1000genomes TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr15:40342650_40342651insTG ENST00000504245.1 + 0 247 NR_040060.1 GGTCTAGCCCTtgtgtgtgtgt 0.540 2 4 --- --- --- --- Z84812.4 0 broad.mit.edu 37 16 70942 70942 + RNA DEL G G - TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr16:70942delG ENST00000568710.1 - 0 434 ccgtgggtgtgggaccctccg 0.572 2 4 --- --- --- --- RP11-876N24.2 0 broad.mit.edu 37 16 10968825 10968826 + RNA INS - - T TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr16:10968825_10968826insT ENST00000572017.1 - 0 438 GAAtttctttctttttttttct 0.490 2 4 --- --- --- --- RP11-67H24.2 0 broad.mit.edu 37 16 32833858 32833859 + RNA INS - - A TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr16:32833858_32833859insA ENST00000569859.1 + 0 373 tccttctttttctttctttgtt 0.342 2 4 --- --- --- --- RP11-23E10.3 0 broad.mit.edu 37 16 33337174 33337174 + RNA DEL G G - TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr16:33337174delG ENST00000567464.1 - 0 212 ctggacaacagggtgaaactc 0.532 2 4 --- --- --- --- RP11-467L24.1 0 broad.mit.edu 37 16 64566952 64566952 + RNA DEL C C - TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr16:64566952delC ENST00000564046.1 + 0 354 GCCGGCTCCTCAATGCCCTCA 0.488 2 4 --- --- --- --- ZNF830 91603 broad.mit.edu 37 17 33289163 33289164 + Frame_Shift_Del DEL CA CA - TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr17:33289163_33289164delCA ENST00000361952.3 + 1 615_616 c.578_579delCA c.(577-579)tfs p.S193fs NM_052857.3 NP_443089.3 Q96NB3 ZN830_HUMAN zinc finger protein 830 193 cell division|mitosis cytoplasm|nucleus metal ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(249;0.17) AAGGAGCACTCAGTTTCCTCTT 0.525 22 23 --- --- --- --- RP11-101O21.1 0 broad.mit.edu 37 17 72109854 72109854 + RNA DEL G G - TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr17:72109854delG ENST00000584003.1 - 0 258 cgcagcctgagggagccggct 0.716 2 4 --- --- --- --- CTC-525D6.1 0 broad.mit.edu 37 19 29783808 29783808 + RNA DEL A A - rs11309855 TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr19:29783808delA ENST00000582581.1 - 0 2030 NR_040029.1 gaatgatgagaaaaaaatagc 0.498 12 1 --- --- --- --- CTD-2050I18.1 0 broad.mit.edu 37 19 32043171 32043174 + RNA DEL TGAC TGAC - rs146439928 TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr19:32043171_32043174delTGAC ENST00000593063.1 + 0 345 gcttcaaatatgactttaagccta 0.431 6 1 --- --- --- --- SNAP25-AS1 0 broad.mit.edu 37 20 10348858 10348859 + RNA INS - - T rs140527189 by1000genomes TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr20:10348858_10348859insT ENST00000421143.2 - 0 5 SNAP25-AS1_ENST00000453544.1_RNA TAGGttttttgtttttttttta 0.450 3 5 --- --- --- --- JAG1 182 broad.mit.edu 37 20 10653632 10653635 + Frame_Shift_Del DEL AACT AACT - TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr20:10653632_10653635delAACT ENST00000254958.5 - 2 616_619 c.101_104delAGTT c.(100-105)ccfs p.QF34fs RP11-103J8.1_ENST00000605292.1_RNA NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 34 angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 CTCCAACTCGAACTGACCCGAGGC 0.642 Alagille Syndrome 22 62 --- --- --- --- RP5-1100I6.2 0 broad.mit.edu 37 20 24189152 24189153 + RNA DEL GT GT - TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr20:24189152_24189153delGT ENST00000457274.1 + 0 68 NR_040102.1 gtgtgcgtgcgtgtgtgtttgt 0.515 3 6 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29595625 29595625 + RNA DEL T T - rs111897002 TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr20:29595625delT ENST00000432067.1 - 0 74 TGTAAAAAAATCACAGGATCC 0.408 3 5 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11039939 11039941 + RNA DEL GTT GTT - rs146620410 TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr21:11039939_11039941delGTT ENST00000470054.1 - 0 774 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) GGATATAATCGTTGTTCTTCATC 0.320 4 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11056529 11056530 + RNA DEL GA GA - TCGA-N5-A4RS-01A-11D-A28R-08 TCGA-N5-A4RS-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5af5265b-b489-4307-b4b7-9ea5d8f1b461 a5091274-8175-4e71-831a-a07f6aef2908 g.chr21:11056529_11056530delGA ENST00000470054.1 - 0 487 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) gtatttttatgagtctccataa 0.272 2 4 --- --- --- ---