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 SIGLEC16 400709 broad.mit.edu 37 19 50474626 50474626 + RNA SNP G G T TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr19:50474626G>T ENST00000602139.1 + 0 983 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 GCGAGCCCTGGACCTCTCTGT 0.667000 29 60 6.53348e-20 7.72138e-20 1 1 0 EFCAB14 9813 broad.mit.edu 37 1 47144234 47144234 + Missense_Mutation SNP G G T TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr1:47144234G>T ENST00000371933.3 - 11 2363 c.1387C>A c.(1387-1389)Cta>Ata p.L463I EFCAB14_ENST00000544071.1_Intron|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14-AS1_ENST00000418985.1_RNA NM_014774.2 NP_055589.1 EF-hand calcium binding domain 14 GCAGAACCTAGGGAGGTCCAG 0.453000 17 42 3.51602e-12 3.97463e-12 1 1 0 CNST 163882 broad.mit.edu 37 1 246810626 246810626 + Missense_Mutation SNP A A T TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr1:246810626A>T ENST00000366513.4 + 9 1392 c.1123A>T c.(1123-1125)Acc>Tcc p.T375S CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.T375S NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 375 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 AGCGCTCCACACCCAGTCCTC 0.587000 OREG0014367 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 55 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871088 170871088 + Silent SNP G G A TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr6:170871088G>A ENST00000392092.2 + 3 543 c.264G>A c.(262-264)caG>caA p.Q88Q TBP_ENST00000540980.1_Silent_p.Q68Q|TBP_ENST00000230354.6_Silent_p.Q88Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 88 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q88Q(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcagcagcagcagc 0.612000 5 55 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C C T rs66505048 TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr22:38119859C>T ENST00000406386.3 + 7 1551 c.1296C>T c.(1294-1296)tgC>tgT p.C432C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 432 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C432C(6) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGCGCCCAGCGGG 0.582000 4 104 0 0 1 0 0 ARRB2 409 broad.mit.edu 37 17 4619828 4619828 + Silent SNP A A C TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr17:4619828A>C ENST00000269260.2 + 5 515 c.282A>C c.(280-282)ccA>ccC p.P94P ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000381488.6_Silent_p.P79P|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000575877.1_Silent_p.P94P|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000570718.1_3'UTR NM_001257328.1|NM_001257330.1|NM_004313.3 NP_001244257.1|NP_001244259.1|NP_004304.1 P32121 ARRB2_HUMAN arrestin, beta 2 94 cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 TGCCCAACCCACCCCGGCCCC 0.667000 5 16 0 0 1 0 0 CXCL3 2921 broad.mit.edu 37 4 74904084 74904084 + Silent SNP C C T TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr4:74904084C>T ENST00000296026.4 - 2 224 c.147G>A c.(145-147)ctG>ctA p.L49L CXCL3_ENST00000511669.1_5'UTR NM_002090.2 NP_002081.2 P19876 CXCL3_HUMAN chemokine (C-X-C motif) ligand 3 49 immune response|inflammatory response|neutrophil chemotaxis extracellular space chemokine activity central_nervous_system(1)|endometrium(1) 2 Breast(15;0.00612) all cancers(17;0.00273)|Lung(101;0.196) GAATTCCCTGCAGTGTCTGCA 0.612000 10 119 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 4118110 4118110 + Silent SNP T T G TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr9:4118110T>G ENST00000324333.10 - 3 1096 c.903A>C c.(901-903)ccA>ccC p.P301P GLIS3_ENST00000381971.3_Silent_p.P456P NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 301 Pro-rich. P -> Q (in dbSNP:rs6415788). negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) gtggggggcctgggggcggcg 0.731000 6 15 0 0 1 0 0 RPS2 6187 broad.mit.edu 37 16 2013180 2013180 + Missense_Mutation SNP C C A TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr16:2013180C>A ENST00000529806.1 - 2 441 c.255G>T c.(253-255)caG>caT p.Q85H RPS2_ENST00000526522.1_Missense_Mutation_p.Q115H|RPS2_ENST00000343262.4_Missense_Mutation_p.Q115H|RPS2_ENST00000530225.1_Missense_Mutation_p.Q115H P15880 RS2_HUMAN ribosomal protein S2 115 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleoplasm fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 CGGCACGGGTCTGCTTCTGCA 0.542000 6 6 3.59834e-05 3.8982e-05 1 1 0 RBM10 8241 broad.mit.edu 37 X 47039364 47039364 + Silent SNP C C A TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chrX:47039364C>A ENST00000377604.3 + 10 1729 c.987C>A c.(985-987)tcC>tcA p.S329S RBM10_ENST00000329236.7_Silent_p.S252S|RBM10_ENST00000345781.6_Silent_p.S252S|RBM10_ENST00000468791.1_Intron NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 329 RRM 2. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 TGTCCTCCTCCAACGTGCGCG 0.622000 3 21 0.004672 0.004672 1 1 0 SPESP1 246777 broad.mit.edu 37 15 69222942 69222942 + Translation_Start_Site SNP G G A TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr15:69222942G>A ENST00000310673.3 + 0 104 NOX5_ENST00000260364.5_De_novo_Start_InFrame|RP11-809H16.2_ENST00000557966.1_RNA|SPESP1_ENST00000560188.1_Intron|NOX5_ENST00000448182.3_De_novo_Start_InFrame NM_145658.3 NP_663633.1 Q6UW49 SPESP_HUMAN sperm equatorial segment protein 1 multicellular organismal development acrosomal vesicle breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 19 TTCCCAGCCTGGTGGCCCCAG 0.622000 8 75 0 0 1 0 0 PAX8 7849 broad.mit.edu 37 2 114002079 114002079 + Missense_Mutation SNP C C A TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr2:114002079C>A ENST00000429538.3 - 4 508 c.314G>T c.(313-315)tGg>tTg p.W105L PAX8_ENST00000397647.3_Missense_Mutation_p.W105L|PAX8_ENST00000348715.5_Missense_Mutation_p.W105L|PAX8_ENST00000263334.5_Missense_Mutation_p.W105L|PAX8_ENST00000263335.7_Missense_Mutation_p.W105L|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000445745.1_RNA NM_003466.3 NP_003457.1 Q06710 PAX8_HUMAN paired box 8 105 Paired. branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity PAX8/PPARG(117) breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1) 20 TCGGATCTCCCAGGCAAACAT 0.582000 T PPARG follicular thyroid Thyroid dysgenesis 8 252 0.000274275 0.000285246 1 1 0 FOLR2 2350 broad.mit.edu 37 11 71932697 71932697 + Missense_Mutation SNP C C T rs140546240 TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr11:71932697C>T ENST00000449475.2 + 5 945 c.647C>T c.(646-648)gCg>gTg p.A216V FOLR2_ENST00000454954.2_Missense_Mutation_p.A179V|FOLR2_ENST00000298223.6_Missense_Mutation_p.A220V P14207 FOLR2_HUMAN folate receptor 2 (fetal) 220 folic acid transport anchored to membrane|extracellular region|membrane fraction|plasma membrane folic acid binding|receptor activity breast(3)|large_intestine(3)|ovary(1)|skin(1) 8 Folic Acid(DB00158) GAGGAAGTGGCGAGGTTCTAT 0.577000 29 41 0 0 1 0 0 EFCAB14 9813 broad.mit.edu 37 1 47144235 47144235 + Silent SNP G G A TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr1:47144235G>A ENST00000371933.3 - 11 2362 c.1386C>T c.(1384-1386)tcC>tcT p.S462S EFCAB14_ENST00000544071.1_Intron|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14-AS1_ENST00000418985.1_RNA NM_014774.2 NP_055589.1 EF-hand calcium binding domain 14 CAGAACCTAGGGAGGTCCAGA 0.453000 17 42 0 0 1 0 0 PPP1R7 5510 broad.mit.edu 37 2 242089953 242089953 + Missense_Mutation SNP A A G TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr2:242089953A>G ENST00000234038.6 + 1 517 c.43A>G c.(43-45)Atg>Gtg p.M15V PPP1R7_ENST00000404405.3_Missense_Mutation_p.M15V|PPP1R7_ENST00000402734.1_Intron|PPP1R7_ENST00000401987.1_Missense_Mutation_p.M15V|PPP1R7_ENST00000272983.8_Missense_Mutation_p.M15V|PPP1R7_ENST00000407025.1_Missense_Mutation_p.M15V|PPP1R7_ENST00000406106.3_Missense_Mutation_p.M15V NM_002712.1 NP_002703.1 Q15435 PP1R7_HUMAN protein phosphatase 1, regulatory subunit 7 15 cytoplasm|nucleus protein binding|protein phosphatase type 1 regulator activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3) 23 all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096) GTCGCAGGAGATGATGGAGGG 0.697000 3 25 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9886894 9886894 + Missense_Mutation SNP A A G rs146821851 TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr18:9886894A>G ENST00000306084.6 + 2 617 c.418A>G c.(418-420)Aaa>Gaa p.K140E TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 140 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity p.K140E(2)|p.K73E(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAAAAGCCATCCA 0.547000 4 138 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73677492 73677492 + Missense_Mutation SNP G G A TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr2:73677492G>A ENST00000264448.6 + 8 3946 c.3835G>A c.(3835-3837)Gct>Act p.A1279T ALMS1_ENST00000409009.1_Missense_Mutation_p.A1237T|ALMS1_ENST00000377715.1_Missense_Mutation_p.A1279T NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1279 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole p.A1279T(1) breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TGGCACACCAGCTGTAACCTC 0.433000 4 123 0 0 1 0 0 PADI6 353238 broad.mit.edu 37 1 17721722 17721723 + RNA DEL GA GA - rs58784721 TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr1:17721722_17721723delGA ENST00000434762.2 + 0 1545 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 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;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) tttgttttttgagagtcttgct 0.485 4 6 --- --- --- --- MACF1 23499 broad.mit.edu 37 1 39799059 39799060 + Frame_Shift_Ins INS - - G TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr1:39799059_39799060insG ENST00000564288.1 + 37 7576_7577 c.6799_6800insG c.(6799-6801)ggafs p.G2267fs MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2272 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGATAGTGGCAGGGAAATTTTT 0.391 19 56 --- --- --- --- RP11-584P21.2 0 broad.mit.edu 37 4 68311813 68311814 + RNA INS - - ACCGCCACCGCC rs11267830 by1000genomes TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr4:68311813_68311814insACCGCCACCGCC ENST00000502400.1 - 0 34 ccgctaccgctaccgccaccgc 0.639 4 3 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32523362 32523363 + RNA INS - - GATA rs142676080 by1000genomes TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr6:32523362_32523363insGATA ENST00000411500.1 - 0 458 NR_001298.1 AAAGCAATGTGGATAAAGGGAC 0.431 4 5 --- --- --- --- MUC3A 4584 broad.mit.edu 37 7 100609618 100609619 + Frame_Shift_Ins INS - - T TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr7:100609618_100609619insT ENST00000319509.7 + 8 2350_2351 c.2350_2351insT c.(2350-2352)gacfs p.D784fs RP11-395B7.2_ENST00000420080.1_RNA mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 GGTCGGGGGCCTGACGGCCGGC 0.757 5 10 --- --- --- --- LTBP3 4054 broad.mit.edu 37 11 65318671 65318671 + Frame_Shift_Del DEL G G - TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr11:65318671delG ENST00000301873.5 - 11 1914 c.1646delC c.(1645-1647)cgfs p.P549fs LTBP3_ENST00000536982.1_Frame_Shift_Del_p.P175fs|LTBP3_ENST00000322147.4_Frame_Shift_Del_p.P549fs NM_001130144.2 NP_001123616.1 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding protein 3 549 extracellular region calcium ion binding|growth factor binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3) 23 GCGCATGGTCGGGGGCGAGGG 0.647 2 4 --- --- --- --- RP11-551L14.1 0 broad.mit.edu 37 12 31269189 31269190 + RNA INS - - ATCAT rs35880498 TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr12:31269189_31269190insATCAT ENST00000542490.1 - 0 165 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CATGAGAACTCATTACCATGAT 0.351 2 4 --- --- --- --- TRAV9-2 0 broad.mit.edu 37 14 22409533 22409539 + RNA DEL CTCTCTC CTCTCTC - rs57759840 TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr14:22409533_22409539delCTCTCTC ENST00000390441.2 + 0 102 ctctctctctctctctctTTTTTTTTT 0.415 4 4 --- --- --- --- RP5-991G20.1 0 broad.mit.edu 37 16 72763869 72763869 + RNA DEL A A - TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr16:72763869delA ENST00000563328.2 + 0 164 GGTCCAAAACAAAAAAAAAAA 0.433 3 4 --- --- --- --- CCDC155 147872 broad.mit.edu 37 19 49920666 49920668 + In_Frame_Del DEL CTG CTG - TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr19:49920666_49920668delCTG ENST00000447857.3 + 20 1793_1795 c.1588_1590delCTG c.(1588-1590)del p.L536del NM_144688.4 NP_653289.3 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 536 Poly-Leu. integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 TGTCCTGGGCctgctgctgctgc 0.650 3 5 --- --- --- --- CSF2RB 1439 broad.mit.edu 37 22 37333749 37333750 + Frame_Shift_Ins INS - - G TCGA-EM-A4FH-01A-11D-A257-08 TCGA-EM-A4FH-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ad41f60-e79a-4db3-9c26-8e74cf80c34c c93a2e43-26fb-461a-a9ab-60b52d591e61 g.chr22:37333749_37333750insG ENST00000262825.5 + 14 2134_2135 c.1917_1918insG c.(1915-1920)gcggggfs p.AG639fs CSF2RB_ENST00000536485.1_Frame_Shift_Ins_p.AG580fs|CSF2RB_ENST00000406230.1_Frame_Shift_Ins_p.AG639fs|CSF2RB_ENST00000403662.3_Frame_Shift_Ins_p.AG633fs NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 633 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) GTCTGCCTGCTGGGGGGCAGGT 0.688 2 4 --- --- --- ---