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 FAM47B 170062 broad.mit.edu 37 X 34962328 34962328 + Silent SNP G G A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chrX:34962328G>A ENST00000329357.5 + 1 1416 c.1380G>A c.(1378-1380)tcG>tcA p.S460S NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 460 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 GACACACATCGAGAAAACTCC 0.468000 44 55 0 0 1 0 0 ZC3H6 376940 broad.mit.edu 37 2 113089467 113089467 + Missense_Mutation SNP C C T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr2:113089467C>T ENST00000409871.1 + 12 3373 c.2972C>T c.(2971-2973)gCa>gTa p.A991V ZC3H6_ENST00000343936.4_Missense_Mutation_p.A991V NM_198581.2 NP_940983.2 P61129 ZC3H6_HUMAN zinc finger CCCH-type containing 6 991 nucleic acid binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2) 35 GATTCACATGCATCAAAGGGT 0.473000 15 18 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628282 29628282 + Missense_Mutation SNP G G A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr20:29628282G>A ENST00000278882.3 + 6 664 c.284G>A c.(283-285)gGg>gAg p.G95E FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AATGAAGCAGGGGACATAGAA 0.373000 6 104 0 0 1 0 0 FAM171B 165215 broad.mit.edu 37 2 187615972 187615972 + Missense_Mutation SNP G G A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr2:187615972G>A ENST00000304698.5 + 5 1039 c.836G>A c.(835-837)cGt>cAt p.R279H NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 279 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 CCTCTTCTACGTCTGAATGAT 0.363000 9 27 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058340 11058340 + RNA SNP A A C rs28617310 by1000genomes TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 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 4 80 0 0 1 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17966763 17966763 + Missense_Mutation SNP G G T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr1:17966763G>T ENST00000361221.3 + 21 2397 c.2238G>T c.(2236-2238)tgG>tgT p.W746C ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.W707C|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.W707C|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.W449C|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.W741C|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.W519C NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 746 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) AGATTTCCTGGGTCAACAGGT 0.572000 12 0 2.27111e-07 2.52038e-07 1 1 0 PCDH11X 27328 broad.mit.edu 37 X 91090729 91090729 + Nonsense_Mutation SNP C C T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chrX:91090729C>T ENST00000373094.1 + 1 1071 c.226C>T c.(226-228)Cga>Tga p.R76* PCDH11X_ENST00000373097.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361655.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000395337.2_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000504220.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000361724.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000373088.1_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000298274.8_Nonsense_Mutation_p.R76*|PCDH11X_ENST00000406881.1_Nonsense_Mutation_p.R76* NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 76 Cadherin 1. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 GCCACTGATTCGAATTGAAGA 0.443000 52 102 0 0 1 0 0 USP11 8237 broad.mit.edu 37 X 47101057 47101057 + Nonsense_Mutation SNP G G T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chrX:47101057G>T ENST00000377107.2 + 9 1492 c.1138G>T c.(1138-1140)Gag>Tag p.E380* USP11_ENST00000218348.3_Nonsense_Mutation_p.E423* P51784 UBP11_HUMAN ubiquitin specific peptidase 11 423 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 GAAGAAGAAGGAGTATGTGGA 0.567000 23 23 1.9806e-07 2.22512e-07 1 1 0 C3 718 broad.mit.edu 37 19 6678426 6678426 + Silent SNP G G A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr19:6678426G>A ENST00000245907.6 - 39 4763 c.4671C>T c.(4669-4671)gaC>gaT p.D1557D C3_ENST00000599668.1_5'UTR NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1557 NTR. complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) ACTCGTCAAAGTCATTGGACA 0.582000 14 12 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84628909 84628909 + Silent SNP G G A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr7:84628909G>A ENST00000284136.6 - 17 2224 c.2181C>T c.(2179-2181)ctC>ctT p.L727L SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 727 cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 AGTACTGGTCGAGGCTGAAGT 0.512000 20 42 0 0 1 0 0 KAT2B 8850 broad.mit.edu 37 3 20082165 20082165 + Nonsense_Mutation SNP G G T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr3:20082165G>T ENST00000263754.4 + 1 651 c.196G>T c.(196-198)Gga>Tga p.G66* NM_003884.4 NP_003875.3 Q92831 KAT2B_HUMAN K(lysine) acetyltransferase 2B 66 cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 CACGGCCGAAGGACCGGGAGG 0.746000 5 17 5.9392e-07 6.51165e-07 1 1 0 PLCL1 5334 broad.mit.edu 37 2 198950127 198950127 + Missense_Mutation SNP A A T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr2:198950127A>T ENST00000428675.1 + 2 2284 c.1886A>T c.(1885-1887)gAg>gTg p.E629V PLCL1_ENST00000437704.2_Missense_Mutation_p.E531V NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 629 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) GAGTACCCAGAGGATTTTGTT 0.368000 7 24 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 6 132 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 11 103 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83359667 83359667 + Splice_Site SNP T T A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chrX:83359667T>A ENST00000262752.2 - 17 1463 c.e17-2 RPS6KA6_ENST00000543399.1_Splice_Site|RPS6KA6_ENST00000495332.1_Splice_Site NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 ATCAAAGACCTACAAAAGAAC 0.294000 10 13 0 0 1 0 0 FLNA 0 broad.mit.edu 37 X 153590696 153590696 + Missense_Mutation SNP G G A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chrX:153590696G>A ENST00000422373.1 - 18 2818 c.2570C>T c.(2569-2571)aCg>aTg p.T857M FLNA_ENST00000369850.3_Missense_Mutation_p.T857M|FLNA_ENST00000344736.4_Missense_Mutation_p.T857M|FLNA_ENST00000360319.4_Missense_Mutation_p.T857M NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 857 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCTGGTGGGCGTGGCCTGCAG 0.637000 34 85 0 0 1 0 0 ICK 22858 broad.mit.edu 37 6 52884097 52884097 + Missense_Mutation SNP T T G TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr6:52884097T>G ENST00000356971.3 - 7 908 c.419A>C c.(418-420)aAa>aCa p.K140T ICK_ENST00000350082.5_Missense_Mutation_p.K140T NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 140 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) GTCTGCAATTTTCACAAGTTC 0.388000 8 27 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17419890 17419890 + Missense_Mutation SNP C C T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr11:17419890C>T ENST00000302539.4 - 30 3877 c.3752G>A c.(3751-3753)cGa>cAa p.R1251Q ABCC8_ENST00000389817.3_Missense_Mutation_p.R1250Q NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1250 ABC transmembrane type-1 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity p.R1250Q(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) ACTTGCCATTCGGACTTCCAG 0.542000 24 17 0 0 1 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55284834 55284834 + Silent SNP A A G TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr19:55284834A>G ENST00000336077.6 + 3 160 c.120A>G c.(118-120)aaA>aaG p.K40K KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Silent_p.K40K|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 40 immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) GCCTGGTGAAATCAGAAGAGA 0.493000 6 222 0 0 1 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455100 187455100 + Missense_Mutation SNP C C T rs148793802 TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr4:187455100C>T ENST00000307161.5 - 2 997 c.796G>A c.(796-798)Gcc>Acc p.A266T RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 266 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) ACCATGCTGGCGGGGTCAGAG 0.507000 39 49 0 0 1 0 0 TREX2 11219 broad.mit.edu 37 X 152710335 152710335 + Missense_Mutation SNP C C T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chrX:152710335C>T ENST00000330912.2 - 13 2104 c.554G>A c.(553-555)aGc>aAc p.S185N TREX2_ENST00000370231.2_Missense_Mutation_p.S185N|TREX2_ENST00000393862.2_Missense_Mutation_p.S185N|TREX2_ENST00000370232.1_Missense_Mutation_p.S228N|TREX2_ENST00000414588.1_Missense_Mutation_p.S227N|TREX2_ENST00000338525.2_Missense_Mutation_p.S185N|TREX2_ENST00000334497.2_Missense_Mutation_p.S228N|TREX2_ENST00000402951.1_Missense_Mutation_p.S228N Q9BQ50 TREX2_HUMAN three prime repair exonuclease 2 228 DNA repair nucleus 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding endometrium(4)|large_intestine(2)|lung(3)|ovary(2) 11 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTGGGCTGCGCTTGGCTCTGC 0.736000 Editing and processing nucleases 12 4 0 0 1 0 0 ZNF473 25888 broad.mit.edu 37 19 50549834 50549834 + Missense_Mutation SNP C C T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr19:50549834C>T ENST00000595661.1 + 6 2629 c.2134C>T c.(2134-2136)Cgt>Tgt p.R712C ZNF473_ENST00000445728.3_Missense_Mutation_p.R700C|ZNF473_ENST00000270617.3_Missense_Mutation_p.R712C|ZNF473_ENST00000391821.2_Missense_Mutation_p.R712C|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA Q8WTR7 ZN473_HUMAN zinc finger protein 473 712 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) GAAAACGTTCCGTCAGAGCTC 0.502000 28 53 0 0 1 0 0 TUFM 7284 broad.mit.edu 37 16 28855116 28855116 + Missense_Mutation SNP G G T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr16:28855116G>T ENST00000313511.3 - 9 1273 c.1135C>A c.(1135-1137)Cct>Act p.P379T NM_003321.4 NP_003312.3 P49411 EFTU_HUMAN Tu translation elongation factor, mitochondrial 376 mitochondrial nucleoid GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 AACATGACAGGCATGAAGTGG 0.577000 14 19 9.31168e-06 1.00877e-05 1 1 0 CLEC12A 160364 broad.mit.edu 37 12 10132100 10132100 + Missense_Mutation SNP G G A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr12:10132100G>A ENST00000304361.4 + 3 538 c.356G>A c.(355-357)cGt>cAt p.R119H CLEC12A_ENST00000434319.2_Missense_Mutation_p.R119H|CLEC12A_ENST00000355690.4_Missense_Mutation_p.R129H|CLEC12A_ENST00000350667.4_Missense_Mutation_p.R86H NM_138337.5|NM_201623.3 NP_612210.4|NP_963917.2 Q5QGZ9 CL12A_HUMAN C-type lectin domain family 12, member A 119 integral to membrane|plasma membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 16 AAATTATGTCGTGAGCTATAT 0.343000 14 9 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887612 12887612 + Missense_Mutation SNP T T C rs60558629 TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr1:12887612T>C ENST00000535591.1 - 3 440 c.245A>G c.(244-246)cAt>cGt p.H82R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 82 p.H82R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGCACCCATGGGCCATAGC 0.488000 5 204 0 0 1 0 0 NRD1 4898 broad.mit.edu 37 1 52258048 52258048 + Splice_Site SNP C C A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr1:52258048C>A ENST00000354831.7 - 27 3217 c.e27+1 NRD1_ENST00000352171.7_Splice_Site|NRD1_ENST00000539524.1_Splice_Site|NRD1_ENST00000485608.1_Splice_Site NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 TATGCACTTACCACAAGCAGC 0.502000 14 23 1.15088e-07 1.30912e-07 1 1 0 PCSK9 255738 broad.mit.edu 37 1 55527145 55527145 + Silent SNP G G A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr1:55527145G>A ENST00000302118.5 + 11 2069 c.1779G>A c.(1777-1779)gaG>gaA p.E593E PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_3'UTR NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 593 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 GCCACAGGGAGGCCAGCATCC 0.652000 9 8 0 0 1 0 0 AC226119.5 0 broad.mit.edu 37 4 3952899 3952899 + RNA SNP A A T rs17410906 TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr4:3952899A>T ENST00000281228.8 - 0 208 FAM86EP_ENST00000313946.8_RNA AGCACCGGGCATACTTGACTG 0.557000 4 36 0 0 1 0 0 ZNF142 7701 broad.mit.edu 37 2 219508021 219508021 + Missense_Mutation SNP T T C TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr2:219508021T>C ENST00000411696.2 - 7 3997 c.3218A>G c.(3217-3219)aAt>aGt p.N1073S ZNF142_ENST00000449707.1_Missense_Mutation_p.N1073S P52746 ZN142_HUMAN zinc finger protein 142 1073 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) AGAGTCCCCATTGCTCAACGG 0.602000 11 50 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 166019317 166019317 + Missense_Mutation SNP G G A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr2:166019317G>A ENST00000360093.3 - 8 1207 c.716C>T c.(715-717)gCc>gTc p.A239V SCN3A_ENST00000283254.7_Missense_Mutation_p.A239V|SCN3A_ENST00000409101.3_Missense_Mutation_p.A239V NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 239 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CTGGATCAGGGCCCCCACAAT 0.453000 39 80 0 0 1 0 0 SLC12A7 10723 broad.mit.edu 37 5 1093658 1093658 + Missense_Mutation SNP C C A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr5:1093658C>A ENST00000264930.5 - 3 375 c.332G>T c.(331-333)cGg>cTg p.R111L NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 111 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) CTTGGCCTCCCGCCGCCGGCT 0.662000 4 1 0.00909568 0.00930008 1 1 0 IL2 3558 broad.mit.edu 37 4 123374885 123374885 + Missense_Mutation SNP C C T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr4:123374885C>T ENST00000226730.4 - 3 615 c.331G>A c.(331-333)Gta>Ata p.V111I NM_000586.3 NP_000577.2 P60568 IL2_HUMAN interleukin 2 111 anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity p.V111L(1) endometrium(2)|large_intestine(4)|lung(6)|skin(1) 13 LUSC - Lung squamous cell carcinoma(721;0.185) AGAACTATTACGTTGATATTG 0.353000 T TNFRSF17 intestinal T-cell lymphoma 16 18 0 0 1 0 0 EFCAB2 84288 broad.mit.edu 37 1 245246946 245246946 + Missense_Mutation SNP G G T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr1:245246946G>T ENST00000366522.2 + 7 878 c.737G>T c.(736-738)gGg>gTg p.G246V EFCAB2_ENST00000487845.1_3'UTR|EFCAB2_ENST00000447569.2_Missense_Mutation_p.G110V|EFCAB2_ENST00000366523.1_Missense_Mutation_p.G110V Q5VUJ9 EFCB2_HUMAN EF-hand calcium binding domain 2 246 EF-hand 2. calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2) 13 all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982) OV - Ovarian serous cystadenocarcinoma(106;0.015) GCTAAACGTGGGTTTCTTACT 0.294000 4 2 0.00024832 0.000265848 1 1 0 CSTF2 1478 broad.mit.edu 37 X 100079128 100079128 + Missense_Mutation SNP C C A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chrX:100079128C>A ENST00000415585.2 + 6 606 c.584C>A c.(583-585)aCa>aAa p.T195K CSTF2_ENST00000372972.2_Missense_Mutation_p.T195K|CSTF2_ENST00000486615.1_Intron P33240 CSTF2_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa 195 Interactions with CSTF3 and SYMPK. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 13 CATCGCCAGACAAATATCCCA 0.473000 30 84 2.80507e-11 3.23116e-11 1 1 0 MRC2 9902 broad.mit.edu 37 17 60758178 60758178 + Missense_Mutation SNP C C T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr17:60758178C>T ENST00000303375.5 + 17 2893 c.2491C>T c.(2491-2493)Cgc>Tgc p.R831C NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 831 endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 GGAATGGCTGCGCTTCCAGGA 0.726000 13 39 0 0 1 0 0 NHS 4810 broad.mit.edu 37 X 17750472 17750472 + Missense_Mutation SNP A A G TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chrX:17750472A>G ENST00000380060.3 + 8 5119 c.4781A>G c.(4780-4782)tAc>tGc p.Y1594C NHS_ENST00000398097.3_Missense_Mutation_p.Y1438C NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 1594 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) AGCAGCCGCTACAGTGTCCGC 0.592000 64 50 0 0 1 0 0 RNMT 8731 broad.mit.edu 37 18 13741541 13741541 + Silent SNP A A G TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr18:13741541A>G ENST00000383314.2 + 7 1065 c.825A>G c.(823-825)caA>caG p.Q275Q RNMT_ENST00000589866.1_Silent_p.Q275Q|RNMT_ENST00000543302.2_Silent_p.Q275Q|RNMT_ENST00000535051.1_Silent_p.Q33Q|RNMT_ENST00000592764.1_Silent_p.Q275Q|RNMT_ENST00000262173.3_Silent_p.Q275Q O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase 275 mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm mRNA (guanine-N7-)-methyltransferase activity|RNA binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2) 18 GTGACCCACAAATGTGTTTTG 0.348000 11 31 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 6 131 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38949535 38949535 + Missense_Mutation SNP G G C TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr3:38949535G>C ENST00000302328.3 - 10 1576 c.1378C>G c.(1378-1380)Ctc>Gtc p.L460V SCN11A_ENST00000456224.3_Missense_Mutation_p.L460V|SCN11A_ENST00000444237.2_Missense_Mutation_p.L460V|SCN11A_ENST00000450244.1_Missense_Mutation_p.L460V NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 460 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TTACCAAAGAGCTTTCTCTTT 0.393000 32 42 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176838076 176838076 + Missense_Mutation SNP C C A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr1:176838076C>A ENST00000367654.2 - 22 3588 c.3575G>T c.(3574-3576)gGt>gTt p.G1192V ASTN1_ENST00000367657.3_Missense_Mutation_p.G1184V|ASTN1_ENST00000424564.2_Missense_Mutation_p.G1184V|ASTN1_ENST00000361833.2_Missense_Mutation_p.G1184V O14525 ASTN1_HUMAN astrotactin 1 1192 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GGTGGGGGAACCCAGATCCAG 0.512000 29 46 8.58068e-18 1.00108e-17 1 1 0 OSTN 344901 broad.mit.edu 37 3 190967905 190967905 + Missense_Mutation SNP G G A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr3:190967905G>A ENST00000339051.1 + 3 397 c.397G>A c.(397-399)Ggc>Agc p.G133S OSTN_ENST00000445281.1_Intron NM_198184.1 NP_937827.1 P61366 OSTN_HUMAN osteocrin 133 cell differentiation|multicellular organismal development|ossification hormone activity kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2) 13 all_cancers(143;6.79e-09)|Ovarian(172;0.103) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000254) AAATTCCAGAGGCTAATTGAT 0.368000 43 60 0 0 1 0 0 AKAP8L 26993 broad.mit.edu 37 19 15512057 15512057 + Silent SNP G G A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr19:15512057G>A ENST00000397410.4 - 5 784 c.720C>T c.(718-720)ggC>ggT p.G240G AKAP8L_ENST00000595136.1_5'UTR|AKAP8L_ENST00000595465.1_Silent_p.G179G NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 240 cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 CCGGGAAGGCGCCCCCACCTC 0.642000 60 79 0 0 1 0 0 GALC 2581 broad.mit.edu 37 14 88411975 88411975 + Missense_Mutation SNP C C T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr14:88411975C>T ENST00000261304.2 - 14 1698 c.1592G>A c.(1591-1593)cGc>cAc p.R531H GALC_ENST00000393568.4_Missense_Mutation_p.R508H|GALC_ENST00000393569.2_Missense_Mutation_p.R505H|GALC_ENST00000544807.2_Missense_Mutation_p.R475H NM_000153.3|NM_001201401.1 NP_000144.2|NP_001188330.1 P54803 GALC_HUMAN galactosylceramidase 531 R -> C (in GLD).|R -> H (in GLD; infantile; significant reduction of activity). carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GAGAACTTGGCGTAGCGTGAA 0.408000 24 28 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846113 18846113 + RNA SNP C C T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr22:18846113C>T ENST00000412938.1 + 0 3471 ATCTCCTCCACGCACTGGCGC 0.612000 5 13 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 71 0 0 1 0 0 ZNF615 284370 broad.mit.edu 37 19 52496399 52496399 + Nonsense_Mutation SNP G G A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr19:52496399G>A ENST00000602063.1 - 6 2279 c.1930C>T c.(1930-1932)Cga>Tga p.R644* ZNF615_ENST00000376716.5_Nonsense_Mutation_p.R644*|ZNF615_ENST00000594083.1_Nonsense_Mutation_p.R655*|ZNF615_ENST00000391795.3_Nonsense_Mutation_p.R649*|ZNF615_ENST00000598071.1_Nonsense_Mutation_p.R655* Q8N8J6 ZN615_HUMAN zinc finger protein 615 644 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GTGTGAAATCGCTGATGTTGT 0.383000 89 44 0 0 1 0 0 AC226119.5 0 broad.mit.edu 37 4 3952901 3952901 + RNA SNP A A T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr4:3952901A>T ENST00000281228.8 - 0 206 FAM86EP_ENST00000313946.8_RNA CACCGGGCATACTTGACTGAC 0.552000 4 36 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr20:29625885A>T ENST00000278882.3 + 5 509 c.129A>T c.(127-129)aaA>aaT p.K43N FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N p.K43N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCGCCCTGAAATCTGGCTATG 0.353000 6 94 0 0 1 0 0 FABP7 2173 broad.mit.edu 37 6 123102370 123102370 + Missense_Mutation SNP G G T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr6:123102370G>T ENST00000356535.4 + 3 415 c.379G>T c.(379-381)Gtt>Ttt p.V127F FABP7_ENST00000368444.3_Intron O15540 FABP7_HUMAN fatty acid binding protein 7, brain 0 Fatty acid binding. negative regulation of cell proliferation cytoplasm lipid binding|transporter activity kidney(1)|large_intestine(1)|lung(2)|stomach(1) 5 GBM - Glioblastoma multiforme(226;0.226) Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159) ATTCTTCCTTGTTTTTTTCTC 0.398000 3 19 1 1 1 1 0 TRIM71 131405 broad.mit.edu 37 3 32933116 32933116 + Missense_Mutation SNP G G A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr3:32933116G>A ENST00000383763.4 + 4 2483 c.2420G>A c.(2419-2421)cGc>cAc p.R807H NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 807 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CAGGAAGGGCGCATCATTGTG 0.597000 4 116 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102516500 102516500 + RNA SNP C C T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr15:102516500C>T ENST00000557932.1 + 0 1448 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 CCCCCAGACCCAGACTTGGGC 0.632000 11 29 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129822360 129822360 + Missense_Mutation SNP G G A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr12:129822360G>A ENST00000422113.2 - 4 1444 c.1118C>T c.(1117-1119)gCg>gTg p.A373V NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 373 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GGCGCCATCCGCACTGGAGAG 0.592000 89 13 0 0 1 0 0 SQSTM1 8878 broad.mit.edu 37 5 179251284 179251284 + Missense_Mutation SNP C C T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr5:179251284C>T ENST00000389805.4 + 4 812 c.634C>T c.(634-636)Cgt>Tgt p.R212C SQSTM1_ENST00000402874.3_Missense_Mutation_p.R128C|SQSTM1_ENST00000360718.5_Missense_Mutation_p.R128C|SQSTM1_ENST00000376929.3_Missense_Mutation_p.R128C|SQSTM1_ENST00000510187.1_Missense_Mutation_p.R212C NM_003900.4 NP_003891.1 Q13501 SQSTM_HUMAN sequestosome 1 212 Interaction with GABRR3 (By similarity).|LIM protein-binding (LB). anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process cytosol|late endosome|nucleoplasm protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding SQSTM1/ALK(2) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1) 13 all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACGTCCTCCTCGTGCAGGGGA 0.622000 19 29 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7709333 7709333 + Missense_Mutation SNP C C T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr5:7709333C>T ENST00000338316.4 + 10 1500 c.1411C>T c.(1411-1413)Cgg>Tgg p.R471W RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.R291W NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 471 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 GGGAGAACGACGGAGCCCCCA 0.587000 15 24 0 0 1 0 0 HIST1H3G 8355 broad.mit.edu 37 6 26271424 26271424 + Silent SNP G G A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr6:26271424G>A ENST00000305910.3 - 1 188 c.189C>T c.(187-189)atC>atT p.I63I NM_003534.2 NP_003525.1 P68431 H31_HUMAN histone cluster 1, H3g 63 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 GCAACTTGCGGATCAGCAGCT 0.617000 49 96 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625956 29625956 + Missense_Mutation SNP G G A rs147809085 TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr20:29625956G>A ENST00000278882.3 + 5 580 c.200G>A c.(199-201)aGa>aAa p.R67K FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K|FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K p.R67K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATTGGACCAAGAGAACAATGG 0.338000 4 99 0 0 1 0 0 LARP1B 55132 broad.mit.edu 37 4 129128488 129128488 + Missense_Mutation SNP C C T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr4:129128488C>T ENST00000326639.6 + 19 2708 c.2497C>T c.(2497-2499)Ctt>Ttt p.L833F LARP1B_ENST00000264584.5_Missense_Mutation_p.L774F|LARP1B_ENST00000354456.3_Missense_Mutation_p.L252F|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000441387.1_3'UTR NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 833 RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 TGACCCAAAACTTCAGGAATA 0.313000 10 9 0 0 1 0 0 OR51E2 81285 broad.mit.edu 37 11 4703777 4703777 + Silent SNP G G A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr11:4703777G>A ENST00000396950.3 - 2 404 c.165C>T c.(163-165)caC>caT p.H55H NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) ACATCGGAGCGTGCAGGCTGC 0.517000 6 77 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122420030 122420030 + Missense_Mutation SNP G G A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr3:122420030G>A ENST00000474629.2 + 6 2895 c.2629G>A c.(2629-2631)Gtg>Atg p.V877M NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 877 Macro 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) CTACCACCACGTGATCCATGC 0.577000 10 46 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77298882 77298882 + Missense_Mutation SNP A A C TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chrX:77298882A>C ENST00000341514.6 + 21 4228 c.4073A>C c.(4072-4074)aAt>aCt p.N1358T ATP7A_ENST00000350425.4_Missense_Mutation_p.N361T|ATP7A_ENST00000343533.5_Missense_Mutation_p.N1280T NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1358 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 ATTCGGATAAATTTTGTCTTT 0.343000 32 53 0 0 1 0 0 SLC7A3 84889 broad.mit.edu 37 X 70147405 70147405 + Missense_Mutation SNP C C T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chrX:70147405C>T ENST00000374299.3 - 7 1256 c.1112G>A c.(1111-1113)cGt>cAt p.R371H SLC7A3_ENST00000298085.4_Missense_Mutation_p.R371H Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 371 cellular nitrogen compound metabolic process integral to membrane|plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1) 31 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) AGCAAGTACACGGAACAGGAG 0.587000 12 30 0 0 1 0 0 SMC4 10051 broad.mit.edu 37 3 160137275 160137275 + Missense_Mutation SNP G G C TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr3:160137275G>C ENST00000357388.3 + 12 2252 c.1801G>C c.(1801-1803)Gat>Cat p.D601H SMC4_ENST00000344722.5_Missense_Mutation_p.D601H|SMC4_ENST00000469762.1_Missense_Mutation_p.D576H|SMC4_ENST00000462787.1_Missense_Mutation_p.D601H|SMC4_ENST00000360111.2_Missense_Mutation_p.D601H|RP11-432B6.3_ENST00000483754.1_Intron NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 601 Flexible hinge. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GAAAGTCCTTGATGCAATAAT 0.338000 66 39 0 0 1 0 0 MICAL1 64780 broad.mit.edu 37 6 109775014 109775014 + Missense_Mutation SNP C C T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr6:109775014C>T ENST00000368952.4 - 3 640 c.350G>A c.(349-351)cGg>cAg p.R117Q MICAL1_ENST00000358577.3_Missense_Mutation_p.R98Q|MICAL1_ENST00000358807.3_Missense_Mutation_p.R98Q Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 98 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) CACAGCGACCCGCAGCCCGCA 0.657000 66 35 0 0 1 0 0 UMOD 7369 broad.mit.edu 37 16 20352470 20352470 + Missense_Mutation SNP T T G TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr16:20352470T>G ENST00000396134.2 - 8 1742 c.1619A>C c.(1618-1620)tAt>tCt p.Y540S UMOD_ENST00000302509.4_Missense_Mutation_p.Y507S|UMOD_ENST00000396142.2_Missense_Mutation_p.Y507S|UMOD_ENST00000570689.1_Missense_Mutation_p.Y507S|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396138.4_Missense_Mutation_p.Y556S|UMOD_ENST00000424589.1_Missense_Mutation_p.Y540S NM_001278614.1 NP_001265543.1 P07911 UROM_HUMAN uromodulin 507 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 GGGTGTGGCATAGCAGTTGGT 0.542000 16 25 0 0 1 0 0 CYP4X1 260293 broad.mit.edu 37 1 47495700 47495700 + Silent SNP T T C TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr1:47495700T>C ENST00000371901.3 + 2 466 c.216T>C c.(214-216)atT>atC p.I72I CYP4X1_ENST00000538609.1_Silent_p.I71I NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, polypeptide 1 72 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 17 TTGAGGAAATTATTGAAAAAT 0.418000 33 40 0 0 1 0 0 PXN 5829 broad.mit.edu 37 12 120660787 120660787 + Missense_Mutation SNP C C G TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr12:120660787C>G ENST00000536957.1 - 4 841 c.366G>C c.(364-366)caG>caC p.Q122H PXN_ENST00000424649.2_Missense_Mutation_p.Q124H|PXN_ENST00000267257.7_Missense_Mutation_p.Q124H|PXN_ENST00000458477.2_5'UTR|PXN_ENST00000228307.7_Missense_Mutation_p.Q124H|PXN_ENST00000538144.1_5'UTR P49023 PAXI_HUMAN paxillin 124 cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly cytoplasm|focal adhesion|lamellipodium|microtubule associated complex beta-catenin binding|vinculin binding|zinc ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAGCTGATTTCTGCTTGTTGG 0.522000 25 28 0 0 1 0 0 C1QTNF1 114897 broad.mit.edu 37 17 77042776 77042776 + Splice_Site SNP G G A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr17:77042776G>A ENST00000339142.2 + 4 850 c.295_splice c.e4+1 p.G99_splice C1QTNF1_ENST00000583904.1_Splice_Site_p.G99_splice|C1QTNF1_ENST00000581774.1_Splice_Site_p.G99_splice|C1QTNF1_ENST00000580454.1_Splice_Site_p.G99_splice|C1QTNF1_ENST00000580474.1_Splice_Site_p.G99_splice|C1QTNF1_ENST00000354124.3_Splice_Site_p.G109_splice|C1QTNF1_ENST00000578229.1_Splice_Site_p.G17_splice|C1QTNF1_ENST00000392445.2_Splice_Site_p.G99_splice|C1QTNF1_ENST00000311661.4_Splice_Site_p.G17_splice|C1QTNF1_ENST00000579760.1_Splice_Site_p.G99_splice NM_198593.3 NP_940995.1 Q9BXJ1 C1QT1_HUMAN C1q and tumor necrosis factor related protein 1 99 Collagen-like. collagen breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2) 14 BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201) TATCTTGAAAGGTCAGATGGC 0.627000 OREG0024791 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 60 110 0 0 1 0 0 RRP1 8568 broad.mit.edu 37 21 45217427 45217427 + Missense_Mutation SNP G G A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr21:45217427G>A ENST00000497547.1 + 6 664 c.547G>A c.(547-549)Gag>Aag p.E183K RRP1_ENST00000471909.1_3'UTR NM_003683.5 NP_003674.1 P56182 RRP1_HUMAN ribosomal RNA processing 1 183 rRNA processing nucleolus|preribosome, small subunit precursor central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) AGTGGGCGCCGAGGAGGTGAG 0.637000 35 34 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098920 11098920 + RNA SNP A A G rs78230864 TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr21:11098920A>G ENST00000470054.1 - 0 5 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) gggagataccagagaccctaa 0.572000 6 21 0 0 1 0 0 KIAA0430 9665 broad.mit.edu 37 16 15729877 15729877 + Missense_Mutation SNP G G A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr16:15729877G>A ENST00000396368.3 - 3 673 c.467C>T c.(466-468)tCt>tTt p.S156F KIAA0430_ENST00000548025.1_Missense_Mutation_p.S156F|KIAA0430_ENST00000602337.1_Missense_Mutation_p.S156F|KIAA0430_ENST00000540441.2_Missense_Mutation_p.S156F|KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_Missense_Mutation_p.S156F NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 155 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TGAAGATGCAGACTGGAAAGC 0.512000 13 155 0 0 1 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677126 37677126 + Missense_Mutation SNP T T A TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr19:37677126T>A ENST00000532828.2 - 5 1564 c.1313A>T c.(1312-1314)tAt>tTt p.Y438F ZNF585B_ENST00000531805.1_Missense_Mutation_p.Y383F|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Missense_Mutation_p.Y26F|CTC-454I21.3_ENST00000585860.2_Intron NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 438 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ACCACATTTATAAGGTTTCTC 0.378000 15 169 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39262004 39262004 + Missense_Mutation SNP G G T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr13:39262004G>T ENST00000280481.7 + 1 739 c.523G>T c.(523-525)Gtc>Ttc p.V175F NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 175 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GGTGGAGGTGGTCTTCACCCA 0.677000 5 6 0.000602214 0.000637227 1 1 0 SUSD4 55061 broad.mit.edu 37 1 223402701 223402701 + Missense_Mutation SNP C C T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr1:223402701C>T ENST00000343846.3 - 5 1387 c.754G>A c.(754-756)Gga>Aga p.G252R SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000454695.2_Missense_Mutation_p.G92R|SUSD4_ENST00000366878.4_Missense_Mutation_p.G252R Q5VX71 SUSD4_HUMAN sushi domain containing 4 252 Sushi 4. integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) ACGAAATCTCCGTGACTCACC 0.532000 3 27 0 0 1 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22848945 22848945 + Missense_Mutation SNP T T C TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr15:22848945T>C ENST00000283645.4 + 10 1122 c.992T>C c.(991-993)aTt>aCt p.I331T TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.I331T NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 331 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) CAGGAGTTCATTGATGAAGTC 0.458000 20 21 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 6 125 0 0 1 0 0 GBAP1 0 broad.mit.edu 37 1 155188471 155188471 + RNA DEL C C - TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr1:155188471delC ENST00000486869.1 - 0 96 NR_002188.2 TCAGGATGCTCCCCACCACTC 0.542 7 0 --- --- --- --- ANKRD20A8P 0 broad.mit.edu 37 2 95513688 95513689 + RNA INS - - TA TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr2:95513688_95513689insTA ENST00000432432.2 - 0 850 NR_040113.1 CTCACCTAATGTATAAGATGGA 0.327 9 73 --- --- --- --- PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr2:131129929_131129934delGACGGG ENST00000175756.5 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cag>ca p.QTG371del PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 371 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 8 7 --- --- --- --- EIF4G1 1981 broad.mit.edu 37 3 184046479 184046480 + Frame_Shift_Ins INS - - TACCTAGCGGA TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr3:184046479_184046480insTACCTAGCGGA ENST00000342981.4 + 26 4431_4432 c.4017_4018insTACCTAGCGGA c.(4015-4020)ctacctfs p.P1340fs EIF4G1_ENST00000392537.2_Frame_Shift_Ins_p.P1252fs|EIF4G1_ENST00000434061.2_Frame_Shift_Ins_p.P1144fs|EIF4G1_ENST00000435046.2_Frame_Shift_Ins_p.P1143fs|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000352767.3_Frame_Shift_Ins_p.P1346fs|EIF4G1_ENST00000411531.1_Frame_Shift_Ins_p.P1300fs|EIF4G1_ENST00000414031.1_Frame_Shift_Ins_p.P1299fs|EIF4G1_ENST00000382330.3_Frame_Shift_Ins_p.P1346fs|EIF4G1_ENST00000350481.5_Frame_Shift_Ins_p.P1175fs|EIF4G1_ENST00000424196.1_Frame_Shift_Ins_p.P1346fs|EIF4G1_ENST00000441154.1_Frame_Shift_Ins_p.P1176fs|EIF4G1_ENST00000319274.6_Frame_Shift_Ins_p.P1339fs|EIF4G1_ENST00000346169.2_Frame_Shift_Ins_p.P1339fs|EIF4G1_ENST00000427845.1_Frame_Shift_Ins_p.P1253fs NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 1339 MI. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity p.L1338L(1) central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ACGTGTGGCTCTACCTAGCGGA 0.525 12 284 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110457553 110457553 + Frame_Shift_Del DEL A A - TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr8:110457553delA ENST00000378402.5 + 38 5559 c.5455delA c.(5455-5457)aafs p.K1819fs NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1819 IPT/TIG 10. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GGTGGGAAGTAAAGGCTTGGC 0.478 HNSCC(38;0.096) 20 50 --- --- --- --- CA10 56934 broad.mit.edu 37 17 50008357 50008357 + Frame_Shift_Del DEL C C - TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr17:50008357delC ENST00000451037.2 - 3 1212 c.272delG c.(271-273)gcfs p.G91fs CA10_ENST00000285273.4_Frame_Shift_Del_p.G91fs|CA10_ENST00000340813.6_Frame_Shift_Del_p.G97fs|CA10_ENST00000442502.2_Frame_Shift_Del_p.G91fs|CA10_ENST00000570565.1_Frame_Shift_Del_p.G16fs NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 91 brain development p.G91V(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) TACCTTCCTGCCCCCCGTGTT 0.493 8 406 --- --- --- --- TK1 7083 broad.mit.edu 37 17 76171208 76171209 + Frame_Shift_Del DEL CG CG - TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr17:76171208_76171209delCG ENST00000588734.1 - 6 673_674 c.435_436delCG c.(433-438)agtgfs p.SV145fs TK1_ENST00000590430.1_3'UTR|TK1_ENST00000405273.1_Frame_Shift_Del_p.SV145fs|TK1_ENST00000590862.1_Frame_Shift_Del_p.SV145fs|TK1_ENST00000301634.7_Frame_Shift_Del_p.SV145fs P04183 KITH_HUMAN thymidine kinase 1, soluble 145 DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|thymidine kinase activity|zinc ion binding endometrium(1)|large_intestine(1)|urinary_tract(2) 4 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23) AGCTTCACCACGCTCTCGGCCA 0.614 21 80 --- --- --- --- ARHGAP35 2909 broad.mit.edu 37 19 47424918 47424918 + Frame_Shift_Del DEL T T - TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chr19:47424918delT ENST00000404338.3 + 1 2986 c.2986delT c.(2986-2988)ttfs p.F996fs NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 996 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity TTACAGCCTGTTTCGAGAAGA 0.483 16 41 --- --- --- --- PRKX 5613 broad.mit.edu 37 X 3631199 3631200 + Frame_Shift_Del DEL GG GG - TCGA-ND-A4WA-01A-12D-A28R-08 TCGA-ND-A4WA-10B-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7258a48f-d4e4-4176-a15b-375751e10e91 ee4803a3-d432-4dcd-ba69-2ccaae1eafd2 g.chrX:3631199_3631200delGG ENST00000262848.5 - 1 449_450 c.95_96delCC c.(94-96)cfs p.P32fs NM_005044.4 NP_005035.1 P51817 PRKX_HUMAN protein kinase, X-linked 32 ATP binding|cAMP-dependent protein kinase activity kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2) 12 all_lung(23;0.000396)|Lung NSC(23;0.00123) CCTCAGGGCTGGGGCAGAGCGC 0.757 2 4 --- --- --- ---