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 PCNT 5116 broad.mit.edu 37 21 47783836 47783836 + Silent SNP C C T TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr21:47783836C>T ENST00000359568.5 + 14 2703 c.2596C>T c.(2596-2598)Ctg>Ttg p.L866L PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 866 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GCAGCTGATGCTGGCCCGGAG 0.677000 3 91 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 4 211 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10402290 10402290 + Splice_Site SNP C C A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr17:10402290C>A ENST00000226207.5 - 29 4079 c.e29+1 CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GTGGAGCTTACCTTTATCTCC 0.398000 5 56 5.9392e-07 7.34585e-07 1 1 0 RP11-20I23.1 0 broad.mit.edu 37 16 2569368 2569368 + Missense_Mutation SNP G G T TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr16:2569368G>T ENST00000564543.1 + 2 1232 c.1115G>T c.(1114-1116)cGc>cTc p.R372L ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000568562.1_Missense_Mutation_p.R59L|ATP6V0C_ENST00000330398.4_Missense_Mutation_p.A77S|ATP6V0C_ENST00000564973.1_Missense_Mutation_p.A34S|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.A34S AGTCCTCATCGCCAACTCCCT 0.612000 3 64 1 1 1 1 0 FRG1B 0 broad.mit.edu 37 20 29628236 29628236 + Missense_Mutation SNP G G C rs145412486 by1000genomes TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr20:29628236G>C ENST00000278882.3 + 6 618 c.238G>C c.(238-240)Gct>Cct p.A80P FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P p.A80P(8) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGGAAAATGGCTTTGTTGGC 0.363000 3 72 0 0 1 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 57 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8499764 8499764 + Silent SNP G G A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr9:8499764G>A ENST00000381196.4 - 22 2748 c.2205C>T c.(2203-2205)ccC>ccT p.P735P PTPRD_ENST00000540109.1_Silent_p.P735P|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Silent_p.P722P|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Silent_p.P735P|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000360074.4_Silent_p.P722P|PTPRD_ENST00000397617.3_Intron NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 735 Fibronectin type-III 5. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.P735P(1) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TATTGGGCACGGGTGAGCGCC 0.483000 TSP Lung(15;0.13) 3 89 0 0 1 0 0 IDE 3416 broad.mit.edu 37 10 94214212 94214212 + Missense_Mutation SNP C C T TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr10:94214212C>T ENST00000265986.6 - 25 3105 c.3049G>A c.(3049-3051)Gca>Aca p.A1017T IDE_ENST00000371581.5_Missense_Mutation_p.A462T|IDE_ENST00000496903.1_5'UTR NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme 1017 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAGAGTTTTGCAGCCATGAAG 0.433000 4 129 0 0 1 0 0 SLC43A3 29015 broad.mit.edu 37 11 57175307 57175307 + Silent SNP C C A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr11:57175307C>A ENST00000395123.2 - 14 1738 c.1434G>T c.(1432-1434)cgG>cgT p.R478R SLC43A3_ENST00000533524.1_Silent_p.R491R|SLC43A3_ENST00000352187.1_Silent_p.R478R|SLC43A3_ENST00000529554.1_Silent_p.R478R|RP11-872D17.8_ENST00000529411.1_Intron|SLC43A3_ENST00000395124.1_Silent_p.R478R NM_001278201.1|NM_014096.2 NP_001265130.1|NP_054815.2 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 478 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 TACGGCATTCCCGATATACCA 0.468000 3 53 1 1 1 1 0 UBR5 51366 broad.mit.edu 37 8 103297922 103297922 + Missense_Mutation SNP G G A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr8:103297922G>A ENST00000520539.1 - 39 5909 c.5303C>T c.(5302-5304)gCt>gTt p.A1768V UBR5_ENST00000521922.1_Missense_Mutation_p.A1762V|UBR5_ENST00000220959.4_Missense_Mutation_p.A1768V NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 1768 Poly-Ala. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) AGCTTCCAAAGCAGCTGCTGC 0.463000 10 49 0 0 1 0 0 ARVCF 421 broad.mit.edu 37 22 19960732 19960732 + Missense_Mutation SNP A A G TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr22:19960732A>G ENST00000263207.3 - 14 2639 c.2348T>C c.(2347-2349)aTc>aCc p.I783T ARVCF_ENST00000344269.3_Missense_Mutation_p.I720T|ARVCF_ENST00000401994.1_Missense_Mutation_p.I720T|ARVCF_ENST00000406259.1_Missense_Mutation_p.I777T|ARVCF_ENST00000406522.1_Missense_Mutation_p.I714T NM_001670.2 NP_001661.1 O00192 ARVC_HUMAN armadillo repeat gene deleted in velocardiofacial syndrome 783 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) GATTTCGTGGATGGTGTTGAG 0.672000 6 11 0 0 1 0 0 WDR45 11152 broad.mit.edu 37 X 48933589 48933589 + Missense_Mutation SNP C C A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chrX:48933589C>A ENST00000356463.3 - 8 893 c.455G>T c.(454-456)tGc>tTc p.C152F WDR45_ENST00000322995.8_Missense_Mutation_p.C162F|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000553851.1_Missense_Mutation_p.C49F|WDR45_ENST00000485908.1_Missense_Mutation_p.C116F|WDR45_ENST00000396681.4_Missense_Mutation_p.C151F|WDR45_ENST00000376358.3_Missense_Mutation_p.C49F|WDR45_ENST00000376372.3_Missense_Mutation_p.C151F|WDR45_ENST00000376368.2_Missense_Mutation_p.C152F|WDR45_ENST00000473974.1_Missense_Mutation_p.C151F NM_007075.3 NP_009006.2 Q9Y484 WIPI4_HUMAN WD repeat domain 45 151 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 19 CAGGCTGGGGCAGAGGTCACA 0.597000 11 12 0.0692343 0.0793662 1 1 0 HCLS1 3059 broad.mit.edu 37 3 121351261 121351261 + Silent SNP C C T TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr3:121351261C>T ENST00000314583.3 - 12 1249 c.1158G>A c.(1156-1158)agG>agA p.R386R HCLS1_ENST00000428394.2_Silent_p.R349R|HCLS1_ENST00000473883.1_5'UTR NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 386 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) CCTGCTCATGCCTGTCCATCT 0.562000 4 201 0 0 1 0 0 RFWD2 64326 broad.mit.edu 37 1 176054931 176054931 + Silent SNP T T C TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr1:176054931T>C ENST00000367669.3 - 10 1636 c.1122A>G c.(1120-1122)acA>acG p.T374T RFWD2_ENST00000308769.8_Silent_p.T350T NM_022457.5 NP_071902.2 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2, E3 ubiquitin protein ligase 374 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GAGACATCCTTGTAGAAAAGT 0.348000 3 86 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Silent_p.S372S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 50 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76022780 76022780 + Missense_Mutation SNP G G A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr6:76022780G>A ENST00000393004.2 - 5 2989 c.2768C>T c.(2767-2769)gCg>gTg p.A923V FILIP1_ENST00000370020.1_Missense_Mutation_p.A824V|FILIP1_ENST00000237172.7_Missense_Mutation_p.A923V|FILIP1_ENST00000498523.1_5'UTR Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 923 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 CTCCAAAGTCGCAGTGCTGTT 0.473000 24 76 0 0 1 0 0 SLAMF1 6504 broad.mit.edu 37 1 160607074 160607074 + Missense_Mutation SNP G G A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr1:160607074G>A ENST00000302035.6 - 2 671 c.322C>T c.(322-324)Cgg>Tgg p.R108W SLAMF1_ENST00000235739.5_Missense_Mutation_p.R108W|SLAMF1_ENST00000355199.3_Missense_Mutation_p.R108W|SLAMF1_ENST00000538290.1_Missense_Mutation_p.R108W|SLAMF1_ENST00000494463.1_5'UTR NM_003037.2 NP_003028.1 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family member 1 108 interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CTGCTTTCCCGTATCCCCAGG 0.468000 4 72 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105416584 105416584 + Missense_Mutation SNP G G A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr14:105416584G>A ENST00000333244.5 - 7 5323 c.5204C>T c.(5203-5205)gCc>gTc p.A1735V AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1735 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTTGAAGCCGGCTCCCTCGGG 0.632000 4 207 0 0 1 0 0 TCP11L2 255394 broad.mit.edu 37 12 106715426 106715426 + Missense_Mutation SNP G G C TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr12:106715426G>C ENST00000546625.1 + 5 736 c.577G>C c.(577-579)Gtg>Ctg p.V193L TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000299045.3_Missense_Mutation_p.V193L|TCP11L2_ENST00000547153.1_Missense_Mutation_p.V193L Q8N4U5 T11L2_HUMAN t-complex 11, testis-specific-like 2 193 endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 GTGTGCTCCCGTGCGAGATAA 0.493000 3 82 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18778612 18778612 + RNA SNP C C T rs1055042 by1000genomes TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr22:18778612C>T ENST00000412448.1 - 0 793 GCGGCCACGGCAGCCCTGGTG 0.637000 4 21 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3)|p.Q2742Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcaacagcagcagc 0.602000 4 64 0 0 1 0 0 SEC14L4 284904 broad.mit.edu 37 22 30890948 30890948 + Splice_Site SNP G G A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr22:30890948G>A ENST00000392772.2 - 6 539 c.261_splice c.e6-1 p.L88_splice SEC14L4_ENST00000540456.1_Splice_Site_p.L127_splice|SEC14L4_ENST00000381982.3_Splice_Site_p.L142_splice|SEC14L4_ENST00000255858.7_Splice_Site_p.L142_splice Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 142 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) TTCCTGCCCAGCTGCTTGGGA 0.587000 11 34 0 0 1 0 0 IGHA2 0 broad.mit.edu 37 14 106054663 106054663 + RNA SNP C C T rs116634885 by1000genomes TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr14:106054663C>T ENST00000390539.2 - 0 69 AGGCATGCGACGACCACGTTC 0.632000 4 52 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 58 0 0 1 0 0 HSPA9 3313 broad.mit.edu 37 5 137902369 137902369 + Missense_Mutation SNP C C A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr5:137902369C>A ENST00000297185.3 - 9 1043 c.918G>T c.(916-918)caG>caT p.Q306H HSPA9_ENST00000501917.2_5'UTR NM_004134.6 NP_004125.3 P38646 GRP75_HUMAN heat shock 70kDa protein 9 (mortalin) 306 anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CCCGTACCCTCTGAAGTGCCA 0.438000 4 192 1 1 1 1 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 52 0 0 1 0 0 SPOCK3 50859 broad.mit.edu 37 4 167810357 167810357 + Missense_Mutation SNP C C A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr4:167810357C>A ENST00000357154.3 - 7 659 c.522G>T c.(520-522)caG>caT p.Q174H SPOCK3_ENST00000506886.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000421836.2_Missense_Mutation_p.Q123H|SPOCK3_ENST00000504953.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000510741.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000541637.1_Missense_Mutation_p.Q76H|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000541354.1_Missense_Mutation_p.Q54H|SPOCK3_ENST00000511531.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000535728.1_Missense_Mutation_p.Q82H|SPOCK3_ENST00000502330.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000534949.1_Missense_Mutation_p.Q78H|SPOCK3_ENST00000357545.4_Missense_Mutation_p.Q171H|SPOCK3_ENST00000512648.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000511269.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000512681.1_Missense_Mutation_p.Q76H NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 174 Kazal-like. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) TGACTGAGATCTGTTTTCCTA 0.328000 22 33 5.26018e-13 6.68185e-13 1 1 0 LPIN3 64900 broad.mit.edu 37 20 39984584 39984584 + Silent SNP T T C TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr20:39984584T>C ENST00000373257.3 + 14 1804 c.1713T>C c.(1711-1713)ccT>ccC p.P571P NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 571 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) CAGACAGCCCTGTGATCCTGG 0.592000 3 64 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr22:18844766G>A ENST00000412938.1 + 0 3016 CAGCCTCTGAGGGCAGCAGTG 0.557000 3 13 0 0 1 0 0 ALAS1 211 broad.mit.edu 37 3 52246392 52246392 + Missense_Mutation SNP C C T TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr3:52246392C>T ENST00000394965.2 + 11 2078 c.1718C>T c.(1717-1719)gCc>gTc p.A573V ALAS1_ENST00000310271.2_Missense_Mutation_p.A573V|ALAS1_ENST00000484952.1_Missense_Mutation_p.A573V|ALAS1_ENST00000469224.1_Missense_Mutation_p.A573V NM_000688.5 NP_000679.1 P13196 HEM1_HUMAN aminolevulinate, delta-, synthase 1 573 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CTACGGATTGCCCCCACCCCT 0.517000 5 329 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47783836 47783836 + Silent SNP C C T TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr21:47783836C>T ENST00000359568.5 + 14 2703 c.2596C>T c.(2596-2598)Ctg>Ttg p.L866L PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 866 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GCAGCTGATGCTGGCCCGGAG 0.677000 3 91 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 4 211 0 0 1 0 0 RP11-20I23.1 0 broad.mit.edu 37 16 2569368 2569368 + Missense_Mutation SNP G G T TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr16:2569368G>T ENST00000564543.1 + 2 1232 c.1115G>T c.(1114-1116)cGc>cTc p.R372L ATP6V0C_ENST00000564973.1_Missense_Mutation_p.A34S|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.A34S|ATP6V0C_ENST00000568562.1_Missense_Mutation_p.R59L|ATP6V0C_ENST00000330398.4_Missense_Mutation_p.A77S AGTCCTCATCGCCAACTCCCT 0.612000 3 64 1 1 1 1 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 57 0 0 1 0 0 IDE 3416 broad.mit.edu 37 10 94214212 94214212 + Missense_Mutation SNP C C T TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr10:94214212C>T ENST00000265986.6 - 25 3105 c.3049G>A c.(3049-3051)Gca>Aca p.A1017T IDE_ENST00000371581.5_Missense_Mutation_p.A462T|IDE_ENST00000496903.1_5'UTR NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme 1017 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CAGAGTTTTGCAGCCATGAAG 0.433000 4 129 0 0 1 0 0 SLC43A3 29015 broad.mit.edu 37 11 57175307 57175307 + Silent SNP C C A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr11:57175307C>A ENST00000395123.2 - 14 1738 c.1434G>T c.(1432-1434)cgG>cgT p.R478R SLC43A3_ENST00000533524.1_Silent_p.R491R|SLC43A3_ENST00000529554.1_Silent_p.R478R|SLC43A3_ENST00000395124.1_Silent_p.R478R|RP11-872D17.8_ENST00000529411.1_Intron|SLC43A3_ENST00000352187.1_Silent_p.R478R NM_001278201.1|NM_014096.2 NP_001265130.1|NP_054815.2 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 478 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 TACGGCATTCCCGATATACCA 0.468000 3 53 1 1 1 1 0 UBR5 51366 broad.mit.edu 37 8 103297922 103297922 + Missense_Mutation SNP G G A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr8:103297922G>A ENST00000520539.1 - 39 5909 c.5303C>T c.(5302-5304)gCt>gTt p.A1768V UBR5_ENST00000521922.1_Missense_Mutation_p.A1762V|UBR5_ENST00000220959.4_Missense_Mutation_p.A1768V NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 1768 Poly-Ala. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) AGCTTCCAAAGCAGCTGCTGC 0.463000 10 49 0 0 1 0 0 ARVCF 421 broad.mit.edu 37 22 19960732 19960732 + Missense_Mutation SNP A A G TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr22:19960732A>G ENST00000263207.3 - 14 2639 c.2348T>C c.(2347-2349)aTc>aCc p.I783T ARVCF_ENST00000406522.1_Missense_Mutation_p.I714T|ARVCF_ENST00000401994.1_Missense_Mutation_p.I720T|ARVCF_ENST00000406259.1_Missense_Mutation_p.I777T|ARVCF_ENST00000344269.3_Missense_Mutation_p.I720T NM_001670.2 NP_001661.1 O00192 ARVC_HUMAN armadillo repeat gene deleted in velocardiofacial syndrome 783 cell adhesion|multicellular organismal development protein binding NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) GATTTCGTGGATGGTGTTGAG 0.672000 6 11 0 0 1 0 0 WDR45 11152 broad.mit.edu 37 X 48933589 48933589 + Missense_Mutation SNP C C A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chrX:48933589C>A ENST00000356463.3 - 8 893 c.455G>T c.(454-456)tGc>tTc p.C152F WDR45_ENST00000553851.1_Missense_Mutation_p.C49F|WDR45_ENST00000485908.1_Missense_Mutation_p.C116F|WDR45_ENST00000396681.4_Missense_Mutation_p.C151F|WDR45_ENST00000376358.3_Missense_Mutation_p.C49F|WDR45_ENST00000376368.2_Missense_Mutation_p.C152F|WDR45_ENST00000376372.3_Missense_Mutation_p.C151F|WDR45_ENST00000473974.1_Missense_Mutation_p.C151F|WDR45_ENST00000322995.8_Missense_Mutation_p.C162F|WDR45_ENST00000470270.1_5'UTR NM_007075.3 NP_009006.2 Q9Y484 WIPI4_HUMAN WD repeat domain 45 151 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 19 CAGGCTGGGGCAGAGGTCACA 0.597000 11 12 0.0692343 0.0794158 1 1 0 HCLS1 3059 broad.mit.edu 37 3 121351261 121351261 + Silent SNP C C T TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr3:121351261C>T ENST00000314583.3 - 12 1249 c.1158G>A c.(1156-1158)agG>agA p.R386R HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Silent_p.R349R NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 386 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) CCTGCTCATGCCTGTCCATCT 0.562000 4 201 0 0 1 0 0 RFWD2 64326 broad.mit.edu 37 1 176054931 176054931 + Silent SNP T T C TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr1:176054931T>C ENST00000367669.3 - 10 1636 c.1122A>G c.(1120-1122)acA>acG p.T374T RFWD2_ENST00000308769.8_Silent_p.T350T NM_022457.5 NP_071902.2 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2, E3 ubiquitin protein ligase 374 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GAGACATCCTTGTAGAAAAGT 0.348000 3 86 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84610059 84610059 + Silent SNP T T C TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr9:84610059T>C ENST00000344803.2 + 4 4721 c.4674T>C c.(4672-4674)acT>acC p.T1558T NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 CTTTCCTAACTGGACAGAAAA 0.473000 5 2 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76022780 76022780 + Missense_Mutation SNP G G A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr6:76022780G>A ENST00000393004.2 - 5 2989 c.2768C>T c.(2767-2769)gCg>gTg p.A923V FILIP1_ENST00000370020.1_Missense_Mutation_p.A824V|FILIP1_ENST00000237172.7_Missense_Mutation_p.A923V|FILIP1_ENST00000498523.1_5'UTR Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 923 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 CTCCAAAGTCGCAGTGCTGTT 0.473000 24 76 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2741Q(3)|p.Q2742Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcaacagcagcagc 0.602000 4 64 0 0 1 0 0 SLAMF1 6504 broad.mit.edu 37 1 160607074 160607074 + Missense_Mutation SNP G G A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr1:160607074G>A ENST00000302035.6 - 2 671 c.322C>T c.(322-324)Cgg>Tgg p.R108W SLAMF1_ENST00000494463.1_5'UTR|SLAMF1_ENST00000538290.1_Missense_Mutation_p.R108W|SLAMF1_ENST00000235739.5_Missense_Mutation_p.R108W|SLAMF1_ENST00000355199.3_Missense_Mutation_p.R108W NM_003037.2 NP_003028.1 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family member 1 108 interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CTGCTTTCCCGTATCCCCAGG 0.468000 4 72 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105416584 105416584 + Missense_Mutation SNP G G A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr14:105416584G>A ENST00000333244.5 - 7 5323 c.5204C>T c.(5203-5205)gCc>gTc p.A1735V AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1735 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTTGAAGCCGGCTCCCTCGGG 0.632000 4 207 0 0 1 0 0 CYP21A1P 0 broad.mit.edu 37 6 31975113 31975113 + RNA SNP G G C rs62402680 by1000genomes TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr6:31975113G>C ENST00000342991.6 + 0 1236 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GCGCAGCCGAGCATGGAAGAG 0.627000 3 47 0 0 1 0 0 SEC14L4 284904 broad.mit.edu 37 22 30890948 30890948 + Splice_Site SNP G G A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr22:30890948G>A ENST00000392772.2 - 6 539 c.261_splice c.e6-1 p.L88_splice SEC14L4_ENST00000540456.1_Splice_Site_p.L127_splice|SEC14L4_ENST00000381982.3_Splice_Site_p.L142_splice|SEC14L4_ENST00000255858.7_Splice_Site_p.L142_splice Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 142 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) TTCCTGCCCAGCTGCTTGGGA 0.587000 11 34 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 58 0 0 1 0 0 HSPA9 3313 broad.mit.edu 37 5 137902369 137902369 + Missense_Mutation SNP C C A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr5:137902369C>A ENST00000297185.3 - 9 1043 c.918G>T c.(916-918)caG>caT p.Q306H HSPA9_ENST00000501917.2_5'UTR NM_004134.6 NP_004125.3 P38646 GRP75_HUMAN heat shock 70kDa protein 9 (mortalin) 306 anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CCCGTACCCTCTGAAGTGCCA 0.438000 4 192 1 1 1 1 0 TCP11L2 255394 broad.mit.edu 37 12 106715426 106715426 + Missense_Mutation SNP G G C TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr12:106715426G>C ENST00000546625.1 + 5 736 c.577G>C c.(577-579)Gtg>Ctg p.V193L TCP11L2_ENST00000299045.3_Missense_Mutation_p.V193L|TCP11L2_ENST00000552690.1_3'UTR|TCP11L2_ENST00000547153.1_Missense_Mutation_p.V193L Q8N4U5 T11L2_HUMAN t-complex 11, testis-specific-like 2 193 endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 GTGTGCTCCCGTGCGAGATAA 0.493000 3 82 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8499764 8499764 + Silent SNP G G A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr9:8499764G>A ENST00000381196.4 - 22 2748 c.2205C>T c.(2203-2205)ccC>ccT p.P735P PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Silent_p.P735P|PTPRD_ENST00000360074.4_Silent_p.P722P|PTPRD_ENST00000358503.5_Silent_p.P722P|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Silent_p.P735P|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000537002.1_Intron NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 735 Fibronectin type-III 5. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.P735P(1) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TATTGGGCACGGGTGAGCGCC 0.483000 TSP Lung(15;0.13) 3 89 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 4 38 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10402290 10402290 + Splice_Site SNP C C A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr17:10402290C>A ENST00000226207.5 - 29 4079 c.e29+1 CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GTGGAGCTTACCTTTATCTCC 0.398000 5 56 5.9392e-07 7.2384e-07 1 1 0 SPOCK3 50859 broad.mit.edu 37 4 167810357 167810357 + Missense_Mutation SNP C C A TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr4:167810357C>A ENST00000357154.3 - 7 659 c.522G>T c.(520-522)caG>caT p.Q174H SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.Q76H|SPOCK3_ENST00000506886.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000541637.1_Missense_Mutation_p.Q76H|SPOCK3_ENST00000511531.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000421836.2_Missense_Mutation_p.Q123H|SPOCK3_ENST00000504953.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000511269.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000541354.1_Missense_Mutation_p.Q54H|SPOCK3_ENST00000535728.1_Missense_Mutation_p.Q82H|SPOCK3_ENST00000502330.1_Missense_Mutation_p.Q174H|SPOCK3_ENST00000534949.1_Missense_Mutation_p.Q78H|SPOCK3_ENST00000510741.1_Missense_Mutation_p.Q171H|SPOCK3_ENST00000357545.4_Missense_Mutation_p.Q171H|SPOCK3_ENST00000512648.1_Missense_Mutation_p.Q171H NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 174 Kazal-like. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) TGACTGAGATCTGTTTTCCTA 0.328000 22 33 5.26018e-13 6.61764e-13 1 1 0 LPIN3 64900 broad.mit.edu 37 20 39984584 39984584 + Silent SNP T T C TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr20:39984584T>C ENST00000373257.3 + 14 1804 c.1713T>C c.(1711-1713)ccT>ccC p.P571P NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 571 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) CAGACAGCCCTGTGATCCTGG 0.592000 3 64 0 0 1 0 0 ALAS1 211 broad.mit.edu 37 3 52246392 52246392 + Missense_Mutation SNP C C T TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr3:52246392C>T ENST00000394965.2 + 11 2078 c.1718C>T c.(1717-1719)gCc>gTc p.A573V ALAS1_ENST00000484952.1_Missense_Mutation_p.A573V|ALAS1_ENST00000469224.1_Missense_Mutation_p.A573V|ALAS1_ENST00000310271.2_Missense_Mutation_p.A573V NM_000688.5 NP_000679.1 P13196 HEM1_HUMAN aminolevulinate, delta-, synthase 1 573 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CTACGGATTGCCCCCACCCCT 0.517000 5 329 0 0 1 0 0 AC016995.3 0 broad.mit.edu 37 2 38710019 38710019 + RNA DEL T T - rs2005502 by1000genomes TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr2:38710019delT ENST00000417039.1 - 0 696 CTTtaaaaaataaataaataa 0.244 8 1 --- --- --- --- MUC20 200958 broad.mit.edu 37 3 195452664 195452664 + Frame_Shift_Del DEL C C - TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr3:195452664delC ENST00000320736.6 + 3 803 c.677delC c.(676-678)acfs p.T226fs MUC20_ENST00000436408.1_Frame_Shift_Del_p.T397fs|MUC20_ENST00000447234.2_Frame_Shift_Del_p.T397fs|MUC20_ENST00000445522.2_Frame_Shift_Del_p.T362fs NM_001098516.1|NM_152673.2 NP_001091986.1|NP_689886.2 Q8N307 MUC20_HUMAN mucin 20, cell surface associated 397 12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich. Missing. protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) CCAGTCATCACCCCCTCATGG 0.587 6 5 --- --- --- --- GTF2IRD1P1 0 broad.mit.edu 37 7 66304731 66304731 + RNA DEL T T - TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr7:66304731delT ENST00000457166.1 - 0 189 NR_003934.1 TTTCTTTCCCttttttttttt 0.512 7 19 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72822564 72822566 + In_Frame_Del DEL TGC TGC - TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 b26431e2-7d3d-475e-bfdf-013f3306f45e g.chr16:72822564_72822566delTGC ENST00000268489.5 - 10 10281_10283 c.9609_9611delGCA c.(9607-9612)caa>ca p.QQ3203del ZFHX3_ENST00000397992.5_In_Frame_Del_p.QQ2289del NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3203 Poly-Gln. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cacctgtggttgctgctgctgct 0.650 8 208 --- --- --- --- SP8 221833 broad.mit.edu 37 7 20824941 20824943 + In_Frame_Del DEL GCC GCC - TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr7:20824941_20824943delGCC ENST00000361443.4 - 3 676_678 c.439_441delGGC c.(439-441)del p.G147del SP8_ENST00000418710.2_In_Frame_Del_p.G165del NM_198956.2 NP_945194.1 Q8IXZ3 SP8_HUMAN Sp8 transcription factor 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G165delG(1)|p.G147delG(1) NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 8 GCGCGGAGGAgccgccgccgccg 0.729 4 9 --- --- --- --- GTF2IRD1P1 0 broad.mit.edu 37 7 66304731 66304731 + RNA DEL T T - TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr7:66304731delT ENST00000457166.1 - 0 189 NR_003934.1 TTTCTTTCCCttttttttttt 0.512 7 19 --- --- --- --- STEAP2-AS1 0 broad.mit.edu 37 7 89748927 89748928 + RNA INS - - C rs138239781 by1000genomes TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr7:89748927_89748928insC ENST00000478318.2 - 0 424 RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA GGTGCGGGCCTCCCCCTTCCCC 0.639 5 4 --- --- --- --- OR52A4 0 broad.mit.edu 37 11 5142933 5142936 + RNA DEL ACTT ACTT - TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr11:5142933_5142936delACTT ENST00000498233.1 - 0 462_465 breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) AACTCCATCAACTTACTTATCTTT 0.333 7 9 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46320707 46320708 + Frame_Shift_Del DEL TC TC - TCGA-BJ-A2N9-01A-11D-A18F-08 TCGA-BJ-A2N9-11A-11D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a00bec6-810b-4749-93e0-039659cbf4c9 bb3a19af-edb8-47af-8b53-7024b0ca12e2 g.chr12:46320707_46320708delTC ENST00000465950.1 - 1 3040_3041 c.1831_1832delGA c.(1831-1833)afs p.E611fs SCAF11_ENST00000419565.2_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000369367.3_Frame_Shift_Del_p.E926fs|SCAF11_ENST00000549162.1_Frame_Shift_Del_p.E734fs Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 926 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 GGTTCTCCTTTCTCTCTCTCTC 0.446 7 224 --- --- --- ---