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 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 33 0 0 1 0 0 EXOC2 55770 broad.mit.edu 37 6 637797 637797 + Missense_Mutation SNP G G A TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr6:637797G>A ENST00000230449.4 - 2 157 c.22C>T c.(22-24)Ccc>Tcc p.P8S EXOC2_ENST00000448181.3_Intron NM_018303.4 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 8 IPT/TIG. exocytosis|protein transport p.Q6fs*28(1) breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) GTCACAAGGGGGGGTTGTCGT 0.473000 49 51 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058340 11058340 + RNA SNP A A C rs28617310 by1000genomes TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr21:11058340A>C 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) GGGGTAAAGGAGAGAAATCTC 0.363000 8 110 0 0 1 0 0 ZNF90 7643 broad.mit.edu 37 19 20228941 20228941 + Missense_Mutation SNP A A G rs61998186 by1000genomes TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr19:20228941A>G ENST00000418063.2 + 4 690 c.578A>G c.(577-579)aAa>aGa p.K193R ZNF90_ENST00000474284.1_Intron NM_007138.1 NP_009069.1 Q03938 ZNF90_HUMAN zinc finger protein 90 193 Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 ACACATAAGAAAATTCATACT 0.383000 3 28 0 0 1 0 0 WBP11P1 0 broad.mit.edu 37 18 30092327 30092327 + RNA SNP G G A rs1985293 by1000genomes TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr18:30092327G>A ENST00000567636.1 + 0 702 NR_003558.1 CCCTCAGCCTGTGGACCTCCA 0.517000 3 31 0 0 1 0 0 SUFU 51684 broad.mit.edu 37 10 104353455 104353455 + Silent SNP G G A TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr10:104353455G>A ENST00000369902.3 + 5 826 c.660G>A c.(658-660)ctG>ctA p.L220L SUFU_ENST00000423559.2_Silent_p.L220L|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Silent_p.L220L NM_016169.3 NP_057253.2 Q9UMX1 SUFU_HUMAN suppressor of fused homolog (Drosophila) 220 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) AGGGCATCCTGGAGCTGCTGC 0.612000 """D, F, S""" medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation 3 28 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41073950 41073950 + Silent SNP A A G TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chrX:41073950A>G ENST00000324545.7 + 34 5952 c.5319A>G c.(5317-5319)aaA>aaG p.K1773K USP9X_ENST00000378308.2_Silent_p.K1773K NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 1773 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 ATTGTGAAAAATGCAATAAAA 0.323000 19 68 0 0 1 0 0 SLC22A13 9390 broad.mit.edu 37 3 38307656 38307656 + Missense_Mutation SNP G G A rs113229654 byFrequency TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr3:38307656G>A ENST00000311856.4 + 1 354 c.305G>A c.(304-306)cGc>cAc p.R102H SLC22A13_ENST00000450935.2_Missense_Mutation_p.R61H NM_004256.3 NP_004247.2 Q9Y226 S22AD_HUMAN solute carrier family 22 (organic anion/urate transporter), member 13 102 integral to plasma membrane organic cation transmembrane transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067) CTCAGCCACCGCTTCAATGAG 0.592000 3 36 0 0 1 0 0 CTNNAL1 8727 broad.mit.edu 37 9 111706098 111706098 + Splice_Site SNP T T A TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr9:111706098T>A ENST00000374595.4 - 17 2021 c.e17-2 CTNNAL1_ENST00000325580.6_Splice_Site|CTNNAL1_ENST00000325551.4_Splice_Site|FAM206A_ENST00000374624.3_Intron|CTNNAL1_ENST00000374594.1_Splice_Site Q9UBT7 CTNL1_HUMAN catenin (cadherin-associated protein), alpha-like 1 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(157;0.0768) GTCTTTCAGCTGAAATGTAAT 0.358000 14 47 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102516424 102516424 + RNA SNP G G T TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr15:102516424G>T ENST00000557932.1 + 0 1372 p.P449P(4) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGCCGCCACCGCAGCAGCCAC 0.647000 4 38 1.06961e-07 1.06961e-07 1 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 19 37 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135430491 135430491 + Silent SNP A A C TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chrX:135430491A>C ENST00000394143.1 + 6 4917 c.4626A>C c.(4624-4626)acA>acC p.T1542T GPR112_ENST00000370652.1_Silent_p.T1542T|GPR112_ENST00000287534.4_Silent_p.T1479T|GPR112_ENST00000412101.1_Silent_p.T1337T|GPR112_ENST00000394141.1_Silent_p.T1337T NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1542 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTTCTAAAACAATGCATCCAG 0.413000 5 122 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231113619 231113619 + Silent SNP T T A TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr2:231113619T>A ENST00000392045.3 + 9 1026 c.912T>A c.(910-912)acT>acA p.T304T SP140_ENST00000343805.6_Silent_p.T278T|SP140_ENST00000486687.2_Silent_p.T228T|SP140_ENST00000350136.5_Silent_p.T234T|SP140_ENST00000417495.3_Silent_p.T251T|SP140_ENST00000420434.3_Silent_p.T304T NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 304 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) ATCTAAAAACTCCCCAAGTCA 0.423000 24 27 0 0 1 0 0 NCR1 9437 broad.mit.edu 37 19 55423572 55423572 + Missense_Mutation SNP C C T TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr19:55423572C>T ENST00000594765.1 + 6 741 c.716C>T c.(715-717)aCg>aTg p.T239M NCR1_ENST00000357397.5_Missense_Mutation_p.T133M|NCR1_ENST00000598576.1_Missense_Mutation_p.T227M|NCR1_ENST00000291890.4_Missense_Mutation_p.T240M|NCR1_ENST00000338835.5_Intron|NCR1_ENST00000350790.5_Missense_Mutation_p.T145M|NCR1_ENST00000447255.1_Missense_Mutation_p.T239M O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 240 cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) ACCACAGAGACGGGACTCCAG 0.512000 34 46 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687711 27687711 + Missense_Mutation SNP C C A TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr10:27687711C>A ENST00000438700.3 - 4 1933 c.1816G>T c.(1816-1818)Gtc>Ttc p.V606F NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 606 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 TATATAAAGACTACAAAATAC 0.378000 19 38 1.56452e-12 1.62247e-12 1 1 0 LRRC37A5P 0 broad.mit.edu 37 9 114371322 114371322 + RNA SNP T T A rs4978450 by1000genomes TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr9:114371322T>A ENST00000374304.1 - 0 477 TTTCTGTTCATTCTGGGCTTC 0.483000 3 33 0 0 1 0 0 EXOC2 55770 broad.mit.edu 37 6 637797 637797 + Missense_Mutation SNP G G A TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr6:637797G>A ENST00000230449.4 - 2 157 c.22C>T c.(22-24)Ccc>Tcc p.P8S EXOC2_ENST00000448181.3_Intron NM_018303.4 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 8 IPT/TIG. exocytosis|protein transport p.Q6fs*28(1) breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) GTCACAAGGGGGGGTTGTCGT 0.473000 49 51 0 0 1 0 0 ZNF90 7643 broad.mit.edu 37 19 20228941 20228941 + Missense_Mutation SNP A A G rs61998186 by1000genomes TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr19:20228941A>G ENST00000418063.2 + 4 690 c.578A>G c.(577-579)aAa>aGa p.K193R ZNF90_ENST00000474284.1_Intron NM_007138.1 NP_009069.1 Q03938 ZNF90_HUMAN zinc finger protein 90 193 Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 ACACATAAGAAAATTCATACT 0.383000 3 28 0 0 1 0 0 WBP11P1 0 broad.mit.edu 37 18 30092327 30092327 + RNA SNP G G A rs1985293 by1000genomes TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr18:30092327G>A ENST00000567636.1 + 0 702 NR_003558.1 CCCTCAGCCTGTGGACCTCCA 0.517000 3 31 0 0 1 0 0 SUFU 51684 broad.mit.edu 37 10 104353455 104353455 + Silent SNP G G A TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr10:104353455G>A ENST00000369902.3 + 5 826 c.660G>A c.(658-660)ctG>ctA p.L220L SUFU_ENST00000423559.2_Silent_p.L220L|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000369899.2_Silent_p.L220L NM_016169.3 NP_057253.2 Q9UMX1 SUFU_HUMAN suppressor of fused homolog (Drosophila) 220 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) AGGGCATCCTGGAGCTGCTGC 0.612000 """D, F, S""" medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation 3 28 0 0 1 0 0 USP9X 8239 broad.mit.edu 37 X 41073950 41073950 + Silent SNP A A G TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chrX:41073950A>G ENST00000324545.7 + 34 5952 c.5319A>G c.(5317-5319)aaA>aaG p.K1773K USP9X_ENST00000378308.2_Silent_p.K1773K NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 1773 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 ATTGTGAAAAATGCAATAAAA 0.323000 19 68 0 0 1 0 0 SLC22A13 9390 broad.mit.edu 37 3 38307656 38307656 + Missense_Mutation SNP G G A rs113229654 byFrequency TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr3:38307656G>A ENST00000311856.4 + 1 354 c.305G>A c.(304-306)cGc>cAc p.R102H SLC22A13_ENST00000450935.2_Missense_Mutation_p.R61H NM_004256.3 NP_004247.2 Q9Y226 S22AD_HUMAN solute carrier family 22 (organic anion/urate transporter), member 13 102 integral to plasma membrane organic cation transmembrane transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067) CTCAGCCACCGCTTCAATGAG 0.592000 3 36 0 0 1 0 0 CTNNAL1 8727 broad.mit.edu 37 9 111706098 111706098 + Splice_Site SNP T T A TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr9:111706098T>A ENST00000374595.4 - 17 2021 c.e17-2 CTNNAL1_ENST00000374594.1_Splice_Site|CTNNAL1_ENST00000325551.4_Splice_Site|CTNNAL1_ENST00000325580.6_Splice_Site|FAM206A_ENST00000374624.3_Intron Q9UBT7 CTNL1_HUMAN catenin (cadherin-associated protein), alpha-like 1 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(157;0.0768) GTCTTTCAGCTGAAATGTAAT 0.358000 14 47 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 19 37 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135430491 135430491 + Silent SNP A A C TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chrX:135430491A>C ENST00000394143.1 + 6 4917 c.4626A>C c.(4624-4626)acA>acC p.T1542T GPR112_ENST00000370652.1_Silent_p.T1542T|GPR112_ENST00000412101.1_Silent_p.T1337T|GPR112_ENST00000394141.1_Silent_p.T1337T|GPR112_ENST00000287534.4_Silent_p.T1479T NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1542 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTTCTAAAACAATGCATCCAG 0.413000 5 122 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231113619 231113619 + Silent SNP T T A TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr2:231113619T>A ENST00000392045.3 + 9 1026 c.912T>A c.(910-912)acT>acA p.T304T SP140_ENST00000350136.5_Silent_p.T234T|SP140_ENST00000417495.3_Silent_p.T251T|SP140_ENST00000343805.6_Silent_p.T278T|SP140_ENST00000420434.3_Silent_p.T304T|SP140_ENST00000486687.2_Silent_p.T228T NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 304 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) ATCTAAAAACTCCCCAAGTCA 0.423000 24 27 0 0 1 0 0 NCR1 9437 broad.mit.edu 37 19 55423572 55423572 + Missense_Mutation SNP C C T TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr19:55423572C>T ENST00000594765.1 + 6 741 c.716C>T c.(715-717)aCg>aTg p.T239M NCR1_ENST00000357397.5_Missense_Mutation_p.T133M|NCR1_ENST00000447255.1_Missense_Mutation_p.T239M|NCR1_ENST00000338835.5_Intron|NCR1_ENST00000291890.4_Missense_Mutation_p.T240M|NCR1_ENST00000350790.5_Missense_Mutation_p.T145M|NCR1_ENST00000598576.1_Missense_Mutation_p.T227M O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 240 cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) ACCACAGAGACGGGACTCCAG 0.512000 34 46 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687711 27687711 + Missense_Mutation SNP C C A TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr10:27687711C>A ENST00000438700.3 - 4 1933 c.1816G>T c.(1816-1818)Gtc>Ttc p.V606F NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 606 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 TATATAAAGACTACAAAATAC 0.378000 19 38 1.56452e-12 1.56452e-12 1 1 0 LRRC37A5P 0 broad.mit.edu 37 9 114371322 114371322 + RNA SNP T T A rs4978450 by1000genomes TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr9:114371322T>A ENST00000374304.1 - 0 477 TTTCTGTTCATTCTGGGCTTC 0.483000 3 33 0 0 1 0 0 AC074391.1 0 broad.mit.edu 37 2 65738863 65738863 + RNA DEL G G - TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr2:65738863delG ENST00000377977.3 + 0 862 TTTTTTTTTTGTCCAGGAGGC 0.303 2 4 --- --- --- --- ANKRD17 26057 broad.mit.edu 37 4 74124072 74124083 + In_Frame_Del DEL CCGCCTCCACCG CCGCCTCCACCG - rs138773964 byFrequency TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr4:74124072_74124083delCCGCCTCCACCG ENST00000358602.4 - 1 419_430 c.303_314delCGGTGGAGGCGG c.(301-315)gga>gg p.GGGGG106del ANKRD17_ENST00000330838.6_In_Frame_Del_p.GGGGG106del NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 106 Gly-rich. interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) gccgccacctccgcctccaccgccgcctccac 0.651 14 59 --- --- --- --- MCC 4163 broad.mit.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC rs35336557 TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr5:112824048_112824049insGCC ENST00000408903.3 - 1 478_479 c.63_64insGGC c.(61-66)gggcgg>ggGGCgcgg p.21_22GR>GAR NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 549 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ctgctgccgctgccgccgccgc 0.738 7 6 --- --- --- --- ATXN1 6310 broad.mit.edu 37 6 16327913 16327915 + In_Frame_Del DEL TGA TGA - rs11969612 by1000genomes TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr6:16327913_16327915delTGA ENST00000244769.4 - 8 1563_1565 c.627_629delTCA c.(625-630)cag>ca p.HQ211del ATXN1_ENST00000436367.1_In_Frame_Del_p.HQ211del NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 211 Poly-Gln. H -> HQ (in Ref. 1; CAA55793). cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association p.H209delH(2)|p.H209_H211delHQH(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) ctgctgatgctgatgctgctgct 0.665 3 6 --- --- --- --- SVOPL 136306 broad.mit.edu 37 7 138305790 138305790 + Splice_Site DEL C C - TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr7:138305790delC ENST00000421622.1 - 10 1202 c.e10+1 SVOPL_ENST00000288513.5_Splice_Site|SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000419765.3_Splice_Site|SVOPL_ENST00000436657.1_Splice_Site Q8N434 SVOPL_HUMAN SVOP-like integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 CTTGGCTGTACCTGGGATATA 0.567 8 15 --- --- --- --- POLG 5428 broad.mit.edu 37 15 89876827 89876828 + In_Frame_Ins INS - - TGC rs41550117 TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr15:89876827_89876828insTGC ENST00000268124.5 - 2 491_492 c.158_159insGCA c.(157-159)cca>cGCAca p.53_53P>RT POLG_ENST00000442287.2_In_Frame_Ins_p.53_53P>RT NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 53 Poly-Gln. base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) gaggctgctgttgctgctgctg 0.693 DNA polymerases (catalytic subunits) 5 9 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 2d6382de-9762-4d76-9d4b-7c5ac5575ef9 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 10 177 --- --- --- --- AC074391.1 0 broad.mit.edu 37 2 65738863 65738863 + RNA DEL G G - TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr2:65738863delG ENST00000377977.3 + 0 862 TTTTTTTTTTGTCCAGGAGGC 0.303 2 4 --- --- --- --- RP11-103G8.2 0 broad.mit.edu 37 3 150421899 150421900 + RNA INS - - C rs34009900 by1000genomes TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr3:150421899_150421900insC ENST00000475393.1 + 0 20 RP11-103G8.2_ENST00000471093.1_RNA TTCTGTCCCTGCTCTTCAGCGT 0.545 4 2 --- --- --- --- MCC 4163 broad.mit.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC rs35336557 TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr5:112824048_112824049insGCC ENST00000408903.3 - 1 478_479 c.63_64insGGC c.(61-66)gggcgg>ggGGCgcgg p.21_22GR>GAR NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 549 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ctgctgccgctgccgccgccgc 0.738 7 6 --- --- --- --- ARID1B 57492 broad.mit.edu 37 6 157100396 157100397 + In_Frame_Ins INS - - CGC TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr6:157100396_157100397insCGC ENST00000346085.5 + 1 1334_1335 c.1333_1334insCGC c.(1333-1335)gcc>CGCgcc p.444_445insR ARID1B_ENST00000367148.1_In_Frame_Ins_p.444_445insR|ARID1B_ENST00000350026.5_In_Frame_Ins_p.444_445insR|ARID1B_ENST00000275248.4_In_Frame_Ins_p.386_387insR NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 444 Ala-rich. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity p.P392_S393insP(1) NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CAGCCCCAGCGCGCCGCCGCCG 0.787 5 4 --- --- --- --- SVOPL 136306 broad.mit.edu 37 7 138305790 138305790 + Splice_Site DEL C C - TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr7:138305790delC ENST00000421622.1 - 10 1202 c.e10+1 SVOPL_ENST00000288513.5_Splice_Site|SVOPL_ENST00000463557.1_Intron|SVOPL_ENST00000436657.1_Splice_Site|SVOPL_ENST00000419765.3_Splice_Site Q8N434 SVOPL_HUMAN SVOP-like integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 CTTGGCTGTACCTGGGATATA 0.567 8 15 --- --- --- --- SRP14 6727 broad.mit.edu 37 15 40328596 40328597 + In_Frame_Ins INS - - TGCTGC TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr15:40328596_40328597insTGCTGC ENST00000267884.6 - 5 419_420 c.348_349insGCAGCA c.(346-351)gcctgc>gcGCAGCActgc p.116_117AC>AQHC SRP14_ENST00000560773.1_In_Frame_Ins_p.36_37AC>AQHC|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000558720.1_In_Frame_Ins_p.36_37AC>AQHC NM_003134.4 NP_003125.3 P37108 SRP14_HUMAN signal recognition particle 14kDa (homologous Alu RNA binding protein) 116 Ala/Thr-rich. negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding endometrium(1)|skin(1)|upper_aerodigestive_tract(1) 3 all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-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;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505) gctgcggcaggtgctgctgctg 0.480 12 68 --- --- --- --- POLG 5428 broad.mit.edu 37 15 89876827 89876828 + In_Frame_Ins INS - - TGC rs41550117 TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr15:89876827_89876828insTGC ENST00000268124.5 - 2 491_492 c.158_159insGCA c.(157-159)cca>cGCAca p.53_53P>RT POLG_ENST00000442287.2_In_Frame_Ins_p.53_53P>RT NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 53 Poly-Gln. base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) gaggctgctgttgctgctgctg 0.693 DNA polymerases (catalytic subunits) 5 9 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 10 177 --- --- --- --- DNAH2 146754 broad.mit.edu 37 17 7646597 7646597 + Frame_Shift_Del DEL T T - TCGA-EM-A1CV-01A-11D-A13W-08 TCGA-EM-A1CV-11A-11D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e0ccf372-5e5d-4f3a-8673-280ce712d84f 415c9e9c-96db-43f7-8e67-cc1d6bf5fef2 g.chr17:7646597delT ENST00000570791.1 + 14 2372 c.2287delT c.(2287-2289)ttfs p.F765fs DNAH2_ENST00000389173.2_Intron|DNAH2_ENST00000082259.3_Frame_Shift_Del_p.F765fs|DNAH2_ENST00000572933.1_Intron Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 0 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GTCATTTTACTTTTTTTTTTC 0.338 2 4 --- --- --- ---