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 MROH2B 133558 broad.mit.edu 37 5 41047840 41047840 + Nonsense_Mutation SNP C C A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr5:41047840C>A ENST00000399564.4 - 17 2161 c.1711G>T c.(1711-1713)Gaa>Taa p.E571* MROH2B_ENST00000506092.2_Nonsense_Mutation_p.E126* NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B AGCATGGTTTCCCATAGAACG 0.383000 6 7 0.0293803 0.0297499 1 1 0 CACNA1S 779 broad.mit.edu 37 1 201047050 201047050 + Missense_Mutation SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr1:201047050C>T ENST00000362061.3 - 11 1802 c.1576G>A c.(1576-1578)Gtg>Atg p.V526M CACNA1S_ENST00000367338.3_Missense_Mutation_p.V526M NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 526 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CAGCGGAGCACGGAGATGCCC 0.632000 27 48 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66197808 66197808 + Missense_Mutation SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr4:66197808G>A ENST00000273854.3 - 17 3491 c.2891C>T c.(2890-2892)tCt>tTt p.S964F EPHA5_ENST00000354839.4_Missense_Mutation_p.S942F|EPHA5_ENST00000511294.1_Missense_Mutation_p.S965F|EPHA5_ENST00000432638.2_Missense_Mutation_p.S801F NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 964 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity p.S964Y(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 GTAGGCCCCAGATCCTAGTGG 0.358000 TSP Lung(17;0.13) 31 17 0 0 1 0 0 RNF19A 25897 broad.mit.edu 37 8 101300145 101300145 + Silent SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr8:101300145G>A ENST00000519449.1 - 3 574 c.258C>T c.(256-258)ggC>ggT p.G86G RNF19A_ENST00000341084.2_Silent_p.G86G NM_015435.3 NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase 86 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) CATCCACCCCGCCATTTAGCT 0.373000 70 137 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111701419 111701419 + Missense_Mutation SNP T T C TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr6:111701419T>C ENST00000435970.1 - 13 1802 c.986A>G c.(985-987)gAc>gGc p.D329G REV3L_ENST00000368802.3_Missense_Mutation_p.D407G|REV3L_ENST00000358835.3_Missense_Mutation_p.D407G|REV3L_ENST00000368805.1_Missense_Mutation_p.D407G O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 407 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AGGACTACTGTCCACTATAAA 0.433000 DNA polymerases (catalytic subunits) 47 70 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23527778 23527778 + Missense_Mutation SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr5:23527778G>A ENST00000296682.3 + 11 2763 c.2581G>A c.(2581-2583)Gtc>Atc p.V861I NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 861 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GAAGCCCTACGTCTGCAGGGA 0.592000 HNSCC(3;0.000094) 54 103 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039233 11039233 + RNA SNP C C A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr21:11039233C>A ENST00000470054.1 - 0 970 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) CTTTGGATACCACTGTTTTAG 0.403000 33 241 1.30897e-18 1.52713e-18 1 1 0 WNK3 65267 broad.mit.edu 37 X 54259280 54259280 + Missense_Mutation SNP T T A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chrX:54259280T>A ENST00000354646.2 - 21 5240 c.4802A>T c.(4801-4803)cAg>cTg p.Q1601L WNK3_ENST00000375159.2_Missense_Mutation_p.Q1601L|WNK3_ENST00000375169.3_Missense_Mutation_p.Q1554L NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 1554 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 TGTCAAGGACTGGGGGCGGCT 0.383000 49 9 0 0 1 0 0 SLC7A9 11136 broad.mit.edu 37 19 33355054 33355054 + Silent SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr19:33355054C>T ENST00000023064.4 - 4 617 c.426G>A c.(424-426)gtG>gtA p.V142V SLC7A9_ENST00000587772.1_Silent_p.V142V|SLC7A9_ENST00000590341.1_Silent_p.V142V NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 142 V -> A (in dbSNP:rs12150889). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) GCTTGCAGCCCACATAGAAGG 0.587000 16 19 0 0 1 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88926546 88926546 + Missense_Mutation SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr2:88926546C>T ENST00000303236.3 - 1 548 c.247G>A c.(247-249)Gga>Aga p.G83R NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 83 activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 TCCTGCTCTCccgcggctgcc 0.726000 12 13 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20232255 20232255 + Missense_Mutation SNP A A G TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr20:20232255A>G ENST00000245957.5 + 20 2252 c.2176A>G c.(2176-2178)Aaa>Gaa p.K726E C20orf26_ENST00000389656.3_Missense_Mutation_p.K82E|C20orf26_ENST00000377293.1_Missense_Mutation_p.K82E|C20orf26_ENST00000377309.2_Missense_Mutation_p.K82E NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 726 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) TTTTAATGATAAAGATTATGC 0.493000 89 100 0 0 1 0 0 LINC00482 284185 broad.mit.edu 37 17 79278823 79278823 + RNA SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr17:79278823G>A ENST00000332012.5 - 0 770 NR_038080.1 AGGTCCAGGTGAGCAGGGTCC 0.637000 6 16 0 0 1 0 0 ZNF532 55205 broad.mit.edu 37 18 56586563 56586563 + Silent SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr18:56586563G>A ENST00000336078.4 + 4 1820 c.1044G>A c.(1042-1044)ccG>ccA p.P348P ZNF532_ENST00000591230.1_Silent_p.P348P|ZNF532_ENST00000589288.1_Silent_p.P348P|ZNF532_ENST00000591808.1_Silent_p.P348P|ZNF532_ENST00000591083.1_Silent_p.P348P NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 348 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P348P(1) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 AAGGATCCCCGTCCTCTCCCG 0.507000 54 26 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76573651 76573651 + Missense_Mutation SNP C C G TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr16:76573651C>G ENST00000307431.8 + 21 3638 c.3253C>G c.(3253-3255)Caa>Gaa p.Q1085E CNTNAP4_ENST00000377504.4_Missense_Mutation_p.Q1037E|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.Q1013E|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.Q1089E NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 1086 Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 AAATAAATATCAAGAGCCTGA 0.343000 44 45 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73039707 73039707 + Missense_Mutation SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr10:73039707G>A ENST00000335350.6 + 2 625 c.209G>A c.(208-210)cGc>cAc p.R70H UNC5B_ENST00000373192.4_Missense_Mutation_p.R70H NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 70 Ig-like. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 CTCCGCTGCCGCGCCTTCCCC 0.627000 84 70 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 92982962 92982962 + Missense_Mutation SNP C C A rs143723171 TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr8:92982962C>A ENST00000523629.1 - 11 1917 c.1463G>T c.(1462-1464)cGc>cTc p.R488L RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R461L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R451L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R488L|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R451L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R499L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R461L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R451L NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 488 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) GGCGACCGTGCGCTCCATCTT 0.617000 24 28 1.96895e-08 2.11334e-08 1 1 0 SLC26A7 115111 broad.mit.edu 37 8 92406045 92406045 + Silent SNP C C G TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr8:92406045C>G ENST00000276609.3 + 17 2036 c.1797C>G c.(1795-1797)ggC>ggG p.G599G SLC26A7_ENST00000523719.1_Silent_p.G599G|SLC26A7_ENST00000309536.2_Silent_p.G599G|SLC26A7_ENST00000520249.1_3'UTR NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 599 STAS. basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) ACTGTAAAGGCAGGAGTGTGG 0.388000 63 125 0 0 1 0 0 HTR7P1 93164 broad.mit.edu 37 12 13154790 13154790 + RNA SNP G G C rs1291363 by1000genomes TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr12:13154790G>C ENST00000543321.1 + 0 31 HTR7P1_ENST00000535469.1_RNA CCAACTACCTGATCGTGTCCA 0.607000 3 18 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152651011 152651011 + Missense_Mutation SNP T T G TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr6:152651011T>G ENST00000367255.5 - 78 15410 c.14809A>C c.(14809-14811)Agc>Cgc p.S4937R SYNE1_ENST00000448038.1_Missense_Mutation_p.S4866R|SYNE1_ENST00000341594.5_Missense_Mutation_p.S4684R|SYNE1_ENST00000265368.4_Missense_Mutation_p.S4937R|SYNE1_ENST00000423061.1_Missense_Mutation_p.S4866R NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4937 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) ATTCTCAAGCTGGACTGGACC 0.493000 HNSCC(10;0.0054) 82 154 0 0 1 0 0 SUN1 23353 broad.mit.edu 37 7 897553 897553 + Missense_Mutation SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr7:897553G>A ENST00000456758.2 + 19 2050 c.2050G>A c.(2050-2052)Gtg>Atg p.V684M SUN1_ENST00000389574.3_Missense_Mutation_p.V412M|SUN1_ENST00000401592.1_Missense_Mutation_p.V495M|SUN1_ENST00000452783.2_Missense_Mutation_p.V392M|SUN1_ENST00000405266.1_Missense_Mutation_p.V532M|SUN1_ENST00000413514.2_Missense_Mutation_p.V293M|SUN1_ENST00000425407.2_Missense_Mutation_p.V412M O94901 SUN1_HUMAN Sad1 and UNC84 domain containing 1 522 SUN. cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane integral to membrane|nuclear inner membrane|SUN-KASH complex protein binding NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CTGGCGACACGTGAAGACCGG 0.483000 86 197 0 0 1 0 0 RUFY3 22902 broad.mit.edu 37 4 71648890 71648890 + Missense_Mutation SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr4:71648890C>T ENST00000226328.4 + 9 1540 c.977C>T c.(976-978)tCc>tTc p.S326F RUFY3_ENST00000381006.3_Missense_Mutation_p.S326F|RUFY3_ENST00000502653.1_Missense_Mutation_p.S273F|RUFY3_ENST00000417478.2_Missense_Mutation_p.S386F|RUFY3_ENST00000536664.1_Missense_Mutation_p.S310F NM_014961.3 NP_055776.1 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 326 negative regulation of axonogenesis filopodium|growth cone endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 16 all_hematologic(202;0.248) Lung(101;0.235) ATACTGGAATCCAATCGGAAG 0.353000 12 4 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43818933 43818933 + Silent SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr15:43818933C>T ENST00000382031.1 + 5 6007 c.5976C>T c.(5974-5976)gaC>gaT p.D1992D MAP1A_ENST00000300231.5_Silent_p.D1754D|MAP1A_ENST00000399453.1_Silent_p.D1754D P78559 MAP1A_HUMAN microtubule-associated protein 1A 1754 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GGGCCTCAGACTTCAAGGATT 0.567000 64 94 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 61854850 61854850 + Missense_Mutation SNP C C A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr16:61854850C>A ENST00000577390.1 - 6 1957 c.1003G>T c.(1003-1005)Ggc>Tgc p.G335C CDH8_ENST00000577730.1_Missense_Mutation_p.G335C|CDH8_ENST00000584337.1_Missense_Mutation_p.G335C|CDH8_ENST00000299345.6_Missense_Mutation_p.G335C NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 335 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) CTTATAATGCCATCCTGGGCC 0.383000 33 63 2.47316e-13 2.78446e-13 1 1 0 C3orf17 25871 broad.mit.edu 37 3 112724609 112724609 + Missense_Mutation SNP G G T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr3:112724609G>T ENST00000314400.5 - 9 1669 c.1478C>A c.(1477-1479)aCt>aAt p.T493N C3orf17_ENST00000383675.2_Missense_Mutation_p.T423N|C3orf17_ENST00000393857.2_Missense_Mutation_p.T357N NM_015412.3 NP_056227.2 Q6NW34 CC017_HUMAN chromosome 3 open reading frame 17 493 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1) 13 TCTATGCACAGTACAGTGTGA 0.418000 37 78 1.26612e-14 1.44571e-14 1 1 0 CREBBP 1387 broad.mit.edu 37 16 3781794 3781794 + Missense_Mutation SNP T T C TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr16:3781794T>C ENST00000262367.5 - 29 5682 c.4873A>G c.(4873-4875)Atg>Gtg p.M1625V CREBBP_ENST00000382070.3_Missense_Mutation_p.M1587V NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1625 Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.M1625V(1)|p.M1625L(1) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TGCTTCTCCATGGTGGCATAC 0.612000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 58 28 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77913745 77913745 + Missense_Mutation SNP G G T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chrX:77913745G>T ENST00000321110.1 - 2 468 c.173C>A c.(172-174)gCc>gAc p.A58D NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 58 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 GGGCTCCTTGGCCTCTGAGGA 0.572000 17 5 4.7546e-09 5.20742e-09 1 1 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643267 1643267 + Silent SNP G G A rs150695727 by1000genomes TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr11:1643267G>A ENST00000399682.1 - 1 101 c.57C>T c.(55-57)tcC>tcT p.S19S NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 19 keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ccccacagccggagccacagc 0.687000 5 59 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65427085 65427085 + Silent SNP A A G TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chrX:65427085A>G ENST00000519389.1 + 14 2681 c.2502A>G c.(2500-2502)agA>agG p.R834R HEPH_ENST00000343002.2_Silent_p.R780R|HEPH_ENST00000336279.5_Silent_p.R513R|HEPH_ENST00000441993.2_Silent_p.R783R|HEPH_ENST00000419594.1_Silent_p.R591R|HEPH_ENST00000374727.3_Silent_p.R783R Q9BQS7 HEPH_HUMAN hephaestin 780 Plastocyanin-like 5. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 TGGGTTCCAGATACAAGAAAG 0.468000 27 9 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 3 27 0 0 1 0 0 OR52B2 255725 broad.mit.edu 37 11 6191307 6191307 + Missense_Mutation SNP G G T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr11:6191307G>T ENST00000530810.1 - 1 331 c.250C>A c.(250-252)Cta>Ata p.L84I RP11-290F24.3_ENST00000529961.1_RNA NM_001004052.1 NP_001004052.1 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, member 2 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAGATGGCTAGGGCCTTGGGC 0.483000 39 63 1.08169e-08 1.17671e-08 1 1 0 SASH1 23328 broad.mit.edu 37 6 148865655 148865655 + Missense_Mutation SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr6:148865655C>T ENST00000367467.3 + 18 3524 c.3049C>T c.(3049-3051)Cca>Tca p.P1017S NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 1017 Pro-rich. protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) TCCCGATGCGCCATGCCTGCC 0.677000 28 46 0 0 1 0 0 GMIP 51291 broad.mit.edu 37 19 19740953 19740953 + Missense_Mutation SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr19:19740953C>T ENST00000203556.4 - 21 2869 c.2732G>A c.(2731-2733)cGg>cAg p.R911Q GMIP_ENST00000445806.2_Missense_Mutation_p.R882Q|GMIP_ENST00000587238.1_Missense_Mutation_p.R885Q NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 911 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 GCTGGGCCCCCGCCCCCGCAA 0.672000 11 23 0 0 1 0 0 ZNF559 84527 broad.mit.edu 37 19 9449975 9449975 + Missense_Mutation SNP A A G TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr19:9449975A>G ENST00000393883.2 + 4 788 c.140A>G c.(139-141)tAt>tGt p.Y47C ZNF559_ENST00000592896.1_Missense_Mutation_p.Y75C|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000592504.1_Missense_Mutation_p.Y47C|ZNF559_ENST00000317221.7_Missense_Mutation_p.Y47C|ZNF559_ENST00000603380.1_Missense_Mutation_p.Y47C|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.Y111C|ZNF559_ENST00000586255.1_Missense_Mutation_p.Y75C|ZNF559_ENST00000585352.1_Missense_Mutation_p.Y47C|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000446085.4_Intron NM_001202412.1 NP_001189341.1 Q9BR84 ZN559_HUMAN zinc finger protein 559 47 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 CTGGAGAACTATAAGAATCTA 0.408000 80 105 0 0 1 0 0 OR8H1 219469 broad.mit.edu 37 11 56058221 56058221 + Missense_Mutation SNP C C A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr11:56058221C>A ENST00000313022.2 - 1 345 c.318G>T c.(316-318)ttG>ttT p.L106F NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) CAGCAGCTCCCAAGAAGACAA 0.428000 97 204 3.07327e-39 3.72028e-39 1 1 0 FAT1 2195 broad.mit.edu 37 4 187549662 187549662 + Nonsense_Mutation SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr4:187549662G>A ENST00000441802.2 - 8 4788 c.4579C>T c.(4579-4581)Cag>Tag p.Q1527* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1527 Cadherin 13. HQHT -> SPAH (in Ref. 1; CAA60685). actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 AGGGTGTGCTGGTGAACAGCT 0.488000 HNSCC(5;0.00058) 20 12 0 0 1 0 0 CR1L 1379 broad.mit.edu 37 1 207874869 207874869 + Missense_Mutation SNP T T A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr1:207874869T>A ENST00000508064.2 + 9 1294 c.1234T>A c.(1234-1236)Tca>Aca p.S412T CR1L_ENST00000530905.1_Intron NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 412 Sushi 7. cytoplasm|extracellular region|membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 CACAGGTAAATCATGTGAAAC 0.433000 77 12 0 0 1 0 0 ZNF830 91603 broad.mit.edu 37 17 33289647 33289647 + Silent SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr17:33289647G>A ENST00000361952.3 + 1 1099 c.1062G>A c.(1060-1062)gaG>gaA p.E354E NM_052857.3 NP_443089.3 Q96NB3 ZN830_HUMAN zinc finger protein 830 354 cell division|mitosis cytoplasm|nucleus metal ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(249;0.17) GCGATGATGAGGGGGAACTAC 0.408000 40 58 0 0 1 0 0 EDEM1 9695 broad.mit.edu 37 3 5249856 5249856 + Missense_Mutation SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr3:5249856C>T ENST00000256497.4 + 8 1550 c.1417C>T c.(1417-1419)Cct>Tct p.P473S EDEM1_ENST00000445686.1_Missense_Mutation_p.P278S NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 473 ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) TGGTGCCCTCCCTGAGAGATA 0.498000 68 30 0 0 1 0 0 RPS6KA2 6196 broad.mit.edu 37 6 166845943 166845943 + Missense_Mutation SNP C C G TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr6:166845943C>G ENST00000510118.1 - 17 1783 c.1443G>C c.(1441-1443)gaG>gaC p.E481D RPS6KA2_ENST00000265678.4_Missense_Mutation_p.E456D|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.E464D|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.E367D|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.E367D Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 2 456 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) GGATCTCAATCTCTTCCGAGG 0.522000 10 19 0 0 1 0 0 SLC6A11 6538 broad.mit.edu 37 3 10971010 10971010 + Silent SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr3:10971010C>T ENST00000254488.2 + 10 1422 c.1356C>T c.(1354-1356)ctC>ctT p.L452L NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 452 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) TTCTGGGCCTCGTGATGTTAA 0.572000 86 62 0 0 1 0 0 SLC45A1 50651 broad.mit.edu 37 1 8386060 8386060 + Missense_Mutation SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr1:8386060G>A ENST00000471889.1 + 4 1058 c.673G>A c.(673-675)Gca>Aca p.A225T SLC45A1_ENST00000377479.2_Missense_Mutation_p.A259T|SLC45A1_ENST00000289877.8_Missense_Mutation_p.A225T Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 225 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GTGCAGCCCCGCAGACCAGGA 0.657000 47 17 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103324610 103324610 + Missense_Mutation SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr2:103324610G>A ENST00000233969.2 + 12 2243 c.2101G>A c.(2101-2103)Ggg>Agg p.G701R NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 701 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 CGCAGATGCCGGGACCACCGT 0.498000 48 70 0 0 1 0 0 COX10-AS1 100874058 broad.mit.edu 37 17 13927886 13927886 + RNA SNP G G A rs11649821 by1000genomes TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr17:13927886G>A ENST00000602743.1 - 0 224 AACGGAGGGAGTGAGAGCCTT 0.562000 3 25 0 0 1 0 0 RIC8B 55188 broad.mit.edu 37 12 107236418 107236418 + Silent SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr12:107236418C>T ENST00000392837.4 + 5 1039 c.888C>T c.(886-888)ctC>ctT p.L296L RIC8B_ENST00000355478.2_Silent_p.L256L|RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000392839.2_Silent_p.L296L Q9NVN3 RIC8B_HUMAN RIC8 guanine nucleotide exchange factor B 296 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 19 TGGATGTTCTCATTTGTCCGT 0.358000 33 51 0 0 1 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21349925 21349925 + Missense_Mutation SNP G G T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr12:21349925G>T ENST00000256958.2 + 8 869 c.773G>T c.(772-774)tGg>tTg p.W258L NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 258 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) GTTGGAGCTTGGTGGCTTAAT 0.348000 52 126 1.21353e-23 1.42612e-23 1 1 0 CEP78 84131 broad.mit.edu 37 9 80866898 80866898 + Missense_Mutation SNP C C G TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr9:80866898C>G ENST00000424347.2 + 9 1433 c.1144C>G c.(1144-1146)Ctt>Gtt p.L382V CEP78_ENST00000415759.2_Missense_Mutation_p.L383V|CEP78_ENST00000376597.4_Missense_Mutation_p.L383V|CEP78_ENST00000277082.5_Missense_Mutation_p.L382V|CEP78_ENST00000376598.2_Missense_Mutation_p.L382V Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa 382 G2/M transition of mitotic cell cycle centrosome|cytosol breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 21 GCCCGCACCTCTTCCACCTGG 0.418000 7 11 0 0 1 0 0 C9 735 broad.mit.edu 37 5 39311416 39311416 + Missense_Mutation SNP C C T rs147710831 TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr5:39311416C>T ENST00000263408.4 - 7 1029 c.934G>A c.(934-936)Gat>Aat p.D312N NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 312 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) AGCACAACATCGCGATTTCTC 0.368000 53 71 0 0 1 0 0 PLA2G4C 8605 broad.mit.edu 37 19 48602939 48602939 + Missense_Mutation SNP G G T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr19:48602939G>T ENST00000354276.3 - 5 763 c.436C>A c.(436-438)Caa>Aaa p.Q146K PLA2G4C_ENST00000599921.1_Missense_Mutation_p.Q146K|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.Q156K|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.Q146K NM_001159323.1 NP_001152795.1 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC (cytosolic, calcium-independent) 146 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) TCTCTGGTTTGCTTAGAGATA 0.542000 5 67 0.014758 0.0150382 1 1 0 FANCM 57697 broad.mit.edu 37 14 45628353 45628353 + Missense_Mutation SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr14:45628353C>T ENST00000267430.5 + 9 1536 c.1451C>T c.(1450-1452)tCa>tTa p.S484L FANCM_ENST00000542564.2_Missense_Mutation_p.S458L|FANCM_ENST00000556036.1_Missense_Mutation_p.S484L NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 484 Helicase C-terminal. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 ATCTTCTCTTCATTTCGAGAT 0.348000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 39 9 0 0 1 0 0 WDYHV1 55093 broad.mit.edu 37 8 124453639 124453639 + Missense_Mutation SNP G G C TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr8:124453639G>C ENST00000523984.1 + 6 650 c.422G>C c.(421-423)gGc>gCc p.G141A WDYHV1_ENST00000287387.2_Missense_Mutation_p.G201A|WDYHV1_ENST00000523356.1_3'UTR|WDYHV1_ENST00000518125.1_Missense_Mutation_p.G53A|WDYHV1_ENST00000517609.1_3'UTR Q96HA8 NTAQ1_HUMAN WDYHV motif containing 1 201 protein modification process cytosol|nucleus protein binding|protein N-terminal glutamine amidohydrolase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3) 17 CATCGGTTTGGCAGTAAAAAC 0.423000 20 9 0 0 1 0 0 ZNF444 55311 broad.mit.edu 37 19 56671029 56671029 + Missense_Mutation SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr19:56671029G>A ENST00000337080.3 + 5 810 c.443G>A c.(442-444)gGg>gAg p.G148E ZNF444_ENST00000592949.1_Missense_Mutation_p.G147E|ZNF444_ENST00000592171.1_3'UTR NM_001253792.1|NM_018337.3 NP_001240721.1|NP_060807.2 Q8N0Y2 ZN444_HUMAN zinc finger protein 444 148 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|lung(5) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0531) CCGGCGCCTGGGGACTCCCAG 0.726000 3 0 0 0 1 0 0 DHRS9 10170 broad.mit.edu 37 2 169938401 169938401 + Missense_Mutation SNP A A G TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr2:169938401A>G ENST00000327239.4 + 5 1814 c.310A>G c.(310-312)Aaa>Gaa p.K104E DHRS9_ENST00000412271.1_Missense_Mutation_p.K104E|DHRS9_ENST00000357546.2_Missense_Mutation_p.K104E|DHRS9_ENST00000602501.1_Missense_Mutation_p.K104E|DHRS9_ENST00000436483.2_Missense_Mutation_p.K104E|DHRS9_ENST00000432060.2_Missense_Mutation_p.K164E|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000428522.1_Missense_Mutation_p.K104E NM_005771.4 NP_005762.2 Q9BPW9 DHRS9_HUMAN dehydrogenase/reductase (SDR family) member 9 104 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 AGTTGGGGAGAAAGGTGAGAG 0.493000 16 46 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77764355 77764355 + Missense_Mutation SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr7:77764355C>T ENST00000354212.4 - 17 3267 c.3014G>A c.(3013-3015)cGc>cAc p.R1005H MAGI2_ENST00000522391.1_Missense_Mutation_p.R1005H|MAGI2_ENST00000419488.1_Missense_Mutation_p.R991H NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 1005 PDZ 5. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) AGGAATGATGCGAAGGGTGAC 0.577000 26 20 0 0 1 0 0 FOXK2 3607 broad.mit.edu 37 17 80478021 80478021 + Missense_Mutation SNP C C G TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr17:80478021C>G ENST00000335255.5 + 1 431 c.257C>G c.(256-258)cCg>cGg p.P86R NM_004514.3 NP_004505.2 Q01167 FOXK2_HUMAN forkhead box K2 86 FHA.|Gly-rich. AAAAALSGAGTPPAGGGAGGGGAGGGGSPPGGWAVARLEGR EFEYLMKKRSVTIGRNSSQGSVDVSMGHSSFISRRHLEIFT PPGGGGHGGAAPELPPAQPRPDAGGDFYLRCLGKNG -> Q (in Ref. 1; CAA43200). embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) TTCAcgcccccgggcggcggc 0.731000 11 10 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205039043 205039043 + Missense_Mutation SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr1:205039043G>A ENST00000331830.4 + 18 2569 c.2285G>A c.(2284-2286)cGg>cAg p.R762Q NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 762 Fibronectin type-III 2. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CAGACCGCCCGGGTGCCTGGC 0.652000 121 119 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37422978 37422978 + Missense_Mutation SNP A A T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr10:37422978A>T ENST00000374660.1 + 5 683 c.584A>T c.(583-585)cAt>cTt p.H195L ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H195L|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.H195L Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 251 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TGTGGATTTCATCAGTAAGTG 0.383000 135 2793 0 0 1 0 0 LDHAL6B 92483 broad.mit.edu 37 15 59499903 59499903 + Missense_Mutation SNP T T C TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr15:59499903T>C ENST00000307144.4 + 1 862 c.764T>C c.(763-765)aTa>aCa p.I255T MYO1E_ENST00000288235.4_Intron NM_033195.2 NP_149972.1 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 255 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1) 10 NADH(DB00157) GGAGTGAACATAGCTGGTGTC 0.448000 34 58 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101717876 101717876 + Missense_Mutation SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr13:101717876C>T ENST00000251127.6 - 40 4565 c.4484G>A c.(4483-4485)cGg>cAg p.R1495Q NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1495 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ACGCAGTAGCCGCAGCAGGAA 0.572000 88 19 0 0 1 0 0 CPNE4 131034 broad.mit.edu 37 3 131624166 131624166 + Missense_Mutation SNP A A T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr3:131624166A>T ENST00000512055.1 - 6 2248 c.122T>A c.(121-123)cTt>cAt p.L41H CPNE4_ENST00000511604.1_Missense_Mutation_p.L41H|CPNE4_ENST00000502818.1_Missense_Mutation_p.L59H|CPNE4_ENST00000512332.1_Missense_Mutation_p.L59H|CPNE4_ENST00000429747.1_Missense_Mutation_p.L41H Q96A23 CPNE4_HUMAN copine IV 41 C2 1. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 TGGTTTGGAAAGGGCATCTCT 0.517000 59 75 0 0 1 0 0 INO80B 83444 broad.mit.edu 37 2 74684886 74684886 + Silent SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr2:74684886C>T ENST00000233331.7 + 5 1060 c.966C>T c.(964-966)tgC>tgT p.C322C NM_031288.3 NP_112578.2 Q9C086 IN80B_HUMAN INO80 complex subunit B 322 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|nucleolus metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 13 GCTACGCTTGCTCCCGCACAG 0.706000 18 24 0 0 1 0 0 SYNJ2 8871 broad.mit.edu 37 6 158449877 158449877 + Missense_Mutation SNP A A G TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr6:158449877A>G ENST00000355585.4 + 3 379 c.304A>G c.(304-306)Act>Gct p.T102A SYNJ2_ENST00000367122.2_Missense_Mutation_p.T102A|SYNJ2_ENST00000449859.2_Missense_Mutation_p.T51A|SYNJ2_ENST00000367121.3_Missense_Mutation_p.T102A NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 102 nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) AATCACTGCCACTGACTTTTA 0.498000 29 56 0 0 1 0 0 LARP1B 55132 broad.mit.edu 37 4 129012524 129012524 + Silent SNP T T C TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr4:129012524T>C ENST00000326639.6 + 7 736 c.525T>C c.(523-525)ggT>ggC p.G175G LARP1B_ENST00000441387.1_Silent_p.G175G|LARP1B_ENST00000264584.5_Silent_p.G128G|LARP1B_ENST00000394288.3_Silent_p.G175G|LARP1B_ENST00000432347.2_Silent_p.G175G|LARP1B_ENST00000427266.1_Silent_p.G175G|LARP1B_ENST00000512292.1_Silent_p.G175G|LARP1B_ENST00000354456.3_5'UTR NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 175 RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 ATTCATATGGTTATCAAGAAC 0.313000 30 15 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57535057 57535057 + Silent SNP G G T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr1:57535057G>T ENST00000371236.2 - 8 902 c.639C>A c.(637-639)ccC>ccA p.P213P DAB1_ENST00000371234.4_Silent_p.P213P|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000371231.1_Silent_p.P213P|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000439789.2_Intron|DAB1_ENST00000485760.1_5'UTR O75553 DAB1_HUMAN Dab, reelin signal transducer, homolog 1 (Drosophila) 213 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 CTTCCGTTTCGGGATCACGGA 0.408000 15 74 3.32936e-07 3.54985e-07 1 1 0 ALB 213 broad.mit.edu 37 4 74283319 74283319 + Missense_Mutation SNP T T A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr4:74283319T>A ENST00000295897.4 + 11 1450 c.1361T>A c.(1360-1362)cTa>cAa p.L454Q ALB_ENST00000401494.3_Missense_Mutation_p.L339Q|ALB_ENST00000415165.2_Missense_Mutation_p.L262Q|ALB_ENST00000505649.1_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.L454Q|ALB_ENST00000503124.1_Missense_Mutation_p.L304Q NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 454 Albumin 3. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) TCAAGAAACCTAGGAAAAGTG 0.363000 25 26 0 0 1 0 0 SOS1 6654 broad.mit.edu 37 2 39281904 39281904 + Missense_Mutation SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr2:39281904C>T ENST00000426016.1 - 6 657 c.571G>A c.(571-573)Gaa>Aaa p.E191K SOS1_ENST00000428721.2_Missense_Mutation_p.E134K|SOS1_ENST00000402219.2_Missense_Mutation_p.E191K|SOS1_ENST00000395038.2_Missense_Mutation_p.E191K Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 191 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) GAAGGCTCTTCGTCAGTTAAA 0.279000 Noonan syndrome 63 105 0 0 1 0 0 MSANTD4 84437 broad.mit.edu 37 11 105880545 105880545 + Missense_Mutation SNP A A C TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr11:105880545A>C ENST00000301919.4 - 3 2170 c.755T>G c.(754-756)cTa>cGa p.L252R NM_032424.1 NP_115800.1 Q8NCY6 K1826_HUMAN Myb/SANT-like DNA-binding domain containing 4 with coiled-coils 252 nucleus CTCCTTCTCTAGCTGAAGCCG 0.463000 49 95 0 0 1 0 0 KIAA1432 57589 broad.mit.edu 37 9 5763392 5763392 + Missense_Mutation SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr9:5763392C>T ENST00000414202.2 + 19 2556 c.2365C>T c.(2365-2367)Ctt>Ttt p.L789F KIAA1432_ENST00000251879.6_Missense_Mutation_p.L789F|KIAA1432_ENST00000381532.2_Missense_Mutation_p.L710F|KIAA1432_ENST00000449720.2_Missense_Mutation_p.L673F|KIAA1432_ENST00000418622.3_Missense_Mutation_p.L710F NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 789 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) TGCTTTAGTCCTTGGTGCTGT 0.473000 168 91 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140811698 140811698 + Missense_Mutation SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr9:140811698G>A ENST00000371372.1 + 6 926 c.781G>A c.(781-783)Gag>Aag p.E261K CACNA1B_ENST00000277551.2_Missense_Mutation_p.E261K|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E261K|CACNA1B_ENST00000371355.4_Missense_Mutation_p.E261K|CACNA1B_ENST00000371357.1_Missense_Mutation_p.E261K|CACNA1B_ENST00000277549.5_5'UTR NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 261 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TGCAGATGCGGAGCCCGTGGG 0.612000 30 48 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1496892 1496892 + Silent SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr8:1496892G>A ENST00000421627.2 + 2 167 c.33G>A c.(31-33)ccG>ccA p.P11P NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 90 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GGACCCAGCCGCCGCTGTGTT 0.706000 7 3 0 0 1 0 0 PRKD1 5587 broad.mit.edu 37 14 30046468 30046468 + Silent SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr14:30046468G>A ENST00000331968.5 - 18 2944 c.2715C>T c.(2713-2715)ctC>ctT p.L905L PRKD1_ENST00000415220.2_Silent_p.L913L NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 905 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CACGCTCACCGAGGGCTTTCA 0.478000 46 13 0 0 1 0 0 PCDHB18P 54660 broad.mit.edu 37 5 140615733 140615733 + RNA SNP A A G rs2907306 by1000genomes TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr5:140615733A>G ENST00000526308.1 + 0 1796 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 GCCGCAGACCACGGCTCCCCG 0.667000 6 90 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33585721 33585721 + Missense_Mutation SNP T T A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr2:33585721T>A ENST00000404816.2 + 27 4411 c.4058T>A c.(4057-4059)cTc>cAc p.L1353H LTBP1_ENST00000402934.1_Missense_Mutation_p.L972H|LTBP1_ENST00000390003.4_Missense_Mutation_p.L1028H|LTBP1_ENST00000404525.1_Missense_Mutation_p.L974H|LTBP1_ENST00000272273.5_Missense_Mutation_p.L251H|LTBP1_ENST00000418533.2_Missense_Mutation_p.L985H|LTBP1_ENST00000354476.3_Missense_Mutation_p.L1354H|LTBP1_ENST00000407925.1_Missense_Mutation_p.L1027H Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1353 TB 3. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TACTATAATCTCAATGACGCC 0.418000 36 83 0 0 1 0 0 IGKV1D-8 28904 broad.mit.edu 37 2 90260018 90260018 + RNA SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr2:90260018G>A ENST00000471857.1 + 0 302 AGGAGACAGAGTCACCATCAG 0.463000 57 110 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137694768 137694768 + Missense_Mutation SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr9:137694768G>A ENST00000371817.3 + 39 3455 c.3041G>A c.(3040-3042)cGt>cAt p.R1014H NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1014 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) ATGGGTGAGCGTGGCCACCCT 0.602000 10 10 0 0 1 0 0 SOCS2 8835 broad.mit.edu 37 12 93968823 93968823 + Silent SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr12:93968823G>A ENST00000340600.2 + 3 1063 c.465G>A c.(463-465)ccG>ccA p.P155P SOCS2_ENST00000549122.1_Silent_p.P155P|SOCS2_ENST00000549206.1_Silent_p.P155P|SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000536696.2_Silent_p.P155P|SOCS2_ENST00000551556.1_Silent_p.P155P NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4 NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1 O14508 SOCS2_HUMAN suppressor of cytokine signaling 2 155 SH2.|SOCS box. anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus cytoplasm growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity p.P155P(1) cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1) 14 TGACCAAACCGCTCTACACGT 0.502000 41 61 0 0 1 0 0 ARVCF 421 broad.mit.edu 37 22 19969136 19969136 + Missense_Mutation SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr22:19969136C>T ENST00000263207.3 - 5 785 c.494G>A c.(493-495)cGg>cAg p.R165Q ARVCF_ENST00000406259.1_Missense_Mutation_p.R165Q|ARVCF_ENST00000406522.1_Missense_Mutation_p.R102Q|ARVCF_ENST00000401994.1_Missense_Mutation_p.R102Q|ARVCF_ENST00000487793.1_5'UTR|ARVCF_ENST00000344269.3_Missense_Mutation_p.R102Q NM_001670.2 NP_001661.1 O00192 ARVC_HUMAN armadillo repeat gene deleted in velocardiofacial syndrome 165 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) CAGGAAATGCCGGTCCAGGGC 0.682000 33 50 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37029109 37029109 + Missense_Mutation SNP C C A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chrX:37029109C>A ENST00000358047.3 + 1 2678 c.2626C>A c.(2626-2628)Cct>Act p.P876T NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 876 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TGACTTTACCCCTGAGTGCAG 0.463000 46 12 5.20006e-24 6.15595e-24 1 1 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342197 60342197 + RNA SNP T T C rs76635225 TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr17:60342197T>C ENST00000581291.1 - 0 1956 breast(2)|kidney(1)|lung(2) 5 TGGGAGGGGCTGGGCATGGTT 0.488000 4 17 0 0 1 0 0 PPP1R17 10842 broad.mit.edu 37 7 31736590 31736590 + Missense_Mutation SNP G G C TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr7:31736590G>C ENST00000342032.3 + 4 875 c.247G>C c.(247-249)Gaa>Caa p.E83Q PPP1R17_ENST00000409146.3_Missense_Mutation_p.E32Q|PPP1R17_ENST00000498609.1_3'UTR NM_006658.4 NP_006649.2 O96001 GSUB_HUMAN protein phosphatase 1, regulatory subunit 17 83 behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation soluble fraction TGTGTTTTCAGAACATTTAAT 0.383000 31 66 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40689364 40689364 + Missense_Mutation SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr12:40689364G>A ENST00000298910.7 + 23 3072 c.3014G>A c.(3013-3015)tGt>tAt p.C1005Y LRRK2_ENST00000343742.2_Missense_Mutation_p.C1005Y NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1005 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CAGAAATGCTGTATAAGTGTT 0.388000 38 57 0 0 1 0 0 SLC24A1 9187 broad.mit.edu 37 15 65917572 65917572 + Missense_Mutation SNP C C A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr15:65917572C>A ENST00000261892.6 + 2 1441 c.1154C>A c.(1153-1155)gCa>gAa p.A385E SLC24A1_ENST00000546330.1_Missense_Mutation_p.A385E|SLC24A1_ENST00000544319.2_Missense_Mutation_p.A385E|SLC24A1_ENST00000537259.1_Missense_Mutation_p.A385E|SLC24A1_ENST00000399033.4_Missense_Mutation_p.A385E|SLC24A1_ENST00000339868.6_Missense_Mutation_p.A385E NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 385 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 ACGGTCAGGGCAAAGCTGACC 0.577000 35 61 1.62565e-12 1.81756e-12 1 1 0 AIMP2 7965 broad.mit.edu 37 7 6049123 6049123 + Missense_Mutation SNP C C G TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr7:6049123C>G ENST00000223029.3 + 1 248 c.129C>G c.(127-129)caC>caG p.H43Q AIMP2_ENST00000400479.2_Intron|AIMP2_ENST00000395236.2_Missense_Mutation_p.H43Q NM_006303.3 NP_006294.2 Q13155 AIMP2_HUMAN aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 43 apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation cytosol|nucleus protein binding large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 GCGCTGGCCACGTGCAGGTAG 0.776000 16 31 0 0 1 0 0 NOLC1 9221 broad.mit.edu 37 10 103912172 103912172 + Missense_Mutation SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr10:103912172C>T ENST00000405356.1 + 1 240 c.5C>T c.(4-6)gCg>gTg p.A2V NOLC1_ENST00000488254.2_Missense_Mutation_p.A2V|NOLC1_ENST00000605788.1_Missense_Mutation_p.A2V|NOLC1_ENST00000603742.1_5'UTR Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 2 mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) TGGAGGATGGCGGACGCCGGC 0.632000 30 22 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18368530 18368530 + Silent SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr19:18368530G>A ENST00000392413.3 - 4 3779 c.3564C>T c.(3562-3564)ccC>ccT p.P1188P KIAA1683_ENST00000600328.2_Silent_p.P1001P|KIAA1683_ENST00000600359.2_Silent_p.P955P NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 0 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CCCACGTGACGGGGTGGAGCA 0.667000 34 57 0 0 1 0 0 AMDHD2 51005 broad.mit.edu 37 16 2578082 2578082 + Missense_Mutation SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr16:2578082G>A ENST00000302956.4 + 6 744 c.650G>A c.(649-651)cGg>cAg p.R217Q AMDHD2_ENST00000293971.6_Missense_Mutation_p.R217Q|AMDHD2_ENST00000413459.3_Missense_Mutation_p.R217Q|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000565570.1_Intron Q9Y303 NAGA_HUMAN amidohydrolase domain containing 2 217 N-acetylglucosamine metabolic process N-acetylglucosamine-6-phosphate deacetylase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2) 19 GCTGACCTGCGGGCGGCAGAG 0.682000 48 24 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 16026258 16026258 + Silent SNP G G C TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr8:16026258G>C ENST00000350896.3 - 4 536 c.339C>G c.(337-339)gtC>gtG p.V113V MSR1_ENST00000445506.2_Silent_p.V131V|MSR1_ENST00000262101.5_Silent_p.V113V|MSR1_ENST00000381998.4_Silent_p.V113V|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Silent_p.V113V NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 113 cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity p.V113V(1) haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) GTTCCATAAAGACTTCTTGAA 0.388000 72 56 0 0 1 0 0 FAM19A2 338811 broad.mit.edu 37 12 62261196 62261196 + Missense_Mutation SNP C C A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr12:62261196C>A ENST00000416284.3 - 2 1595 c.11G>T c.(10-12)aGa>aTa p.R4I FAM19A2_ENST00000551449.1_Missense_Mutation_p.R4I|FAM19A2_ENST00000551619.1_Missense_Mutation_p.R4I NM_178539.4 NP_848634.1 Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 4 cytoplasm endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) CTGTAAGTATCTCTTACTCAT 0.313000 36 50 4.34311e-12 4.82234e-12 1 1 0 HJURP 55355 broad.mit.edu 37 2 234749348 234749348 + Missense_Mutation SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr2:234749348C>T ENST00000411486.2 - 8 2143 c.2078G>A c.(2077-2079)cGc>cAc p.R693H HJURP_ENST00000441687.1_Missense_Mutation_p.R608H|HJURP_ENST00000432087.1_Missense_Mutation_p.R639H NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 693 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) ATTGCCCTGGCGTCCGGAGCC 0.592000 62 24 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10387081 10387081 + Missense_Mutation SNP G G T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr3:10387081G>T ENST00000397077.1 - 17 3130 c.2555C>A c.(2554-2556)gCc>gAc p.A852D ATP2B2_ENST00000383800.4_Missense_Mutation_p.A852D|ATP2B2_ENST00000360273.2_Missense_Mutation_p.A897D|ATP2B2_ENST00000352432.4_Missense_Mutation_p.A897D|ATP2B2_ENST00000343816.4_Missense_Mutation_p.A883D Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 897 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CGTGATGCAGGCGCCTGTGAA 0.622000 20 12 1.33834e-09 1.47584e-09 1 1 0 CLVS2 134829 broad.mit.edu 37 6 123319157 123319157 + Silent SNP C C A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr6:123319157C>A ENST00000275162.4 + 2 1570 c.235C>A c.(235-237)Cgg>Agg p.R79R CLVS2_ENST00000368438.1_Intron NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 79 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 CTTTGAGTACCGGCAGCAGAA 0.557000 58 92 4.96213e-28 5.9178e-28 1 1 0 OR8J3 81168 broad.mit.edu 37 11 55904585 55904585 + Missense_Mutation SNP C C G TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr11:55904585C>G ENST00000301529.1 - 1 609 c.610G>C c.(610-612)Gca>Cca p.A204P NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) AAATTTGTTGCTGCAGATATA 0.313000 40 73 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115858651 115858651 + Silent SNP T T A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr4:115858651T>A ENST00000264363.2 - 5 1908 c.1230A>T c.(1228-1230)ggA>ggT p.G410G NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 410 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TGATTGGTATTCCATGTTCCT 0.433000 21 11 0 0 1 0 0 FANCA 2175 broad.mit.edu 37 16 89807210 89807210 + Splice_Site SNP A A T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr16:89807210A>T ENST00000389301.3 - 38 3859 c.e38+1 ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Splice_Site NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) GGTCTGACTTACATTTGAGGT 0.483000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 11 17 0 0 1 0 0 IGHG2 3501 broad.mit.edu 37 14 106109985 106109985 + RNA SNP G G C TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr14:106109985G>C ENST00000390545.2 - 0 632 TGGTTTTCTCGATGGGGGCTG 0.627000 4 31 0 0 1 0 0 IBSP 3381 broad.mit.edu 37 4 88723830 88723830 + Missense_Mutation SNP T T C TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr4:88723830T>C ENST00000226284.5 + 4 197 c.130T>C c.(130-132)Tat>Cat p.Y44H NM_004967.3 NP_004958.2 P21815 SIAL_HUMAN integrin-binding sialoprotein 44 biomineral tissue development|cell adhesion|ossification breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10) 21 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) GCCACGATATTATCTTTACAA 0.274000 35 21 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84455101 84455101 + Missense_Mutation SNP T T C TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr13:84455101T>C ENST00000377084.2 - 1 1427 c.542A>G c.(541-543)cAc>cGc p.H181R NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 181 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GAGGTCGAGGTGGGTGATGGG 0.537000 67 30 0 0 1 0 0 OGDH 4967 broad.mit.edu 37 7 44737219 44737219 + Silent SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr7:44737219C>T ENST00000222673.5 + 17 2238 c.2196C>T c.(2194-2196)ttC>ttT p.F732F OGDH_ENST00000543843.1_Silent_p.F683F|OGDH_ENST00000439616.2_Silent_p.F582F|OGDH_ENST00000447398.1_Silent_p.F743F|OGDH_ENST00000449767.1_Silent_p.F728F|OGDH_ENST00000444676.1_Silent_p.F747F NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 732 LGFA -> AGLR (in Ref. 1; BAA01393 and 2; BAA06836). glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) AGCTGGGCTTCGCCATGGCCA 0.597000 52 84 0 0 1 0 0 SLC38A10 124565 broad.mit.edu 37 17 79226361 79226361 + Missense_Mutation SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr17:79226361C>T ENST00000374759.3 - 13 1962 c.1579G>A c.(1579-1581)Gcg>Acg p.A527T SLC38A10_ENST00000288439.5_Missense_Mutation_p.A527T NM_001037984.1 NP_001033073.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 527 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) TTTCCGCCCGCGTGTCTGGAT 0.622000 47 88 0 0 1 0 0 DIP2A 23181 broad.mit.edu 37 21 47969742 47969742 + Nonsense_Mutation SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr21:47969742C>T ENST00000318711.7 + 22 2767 c.2584C>T c.(2584-2586)Cag>Tag p.Q862* DIP2A_ENST00000457905.3_Nonsense_Mutation_p.Q861*|DIP2A_ENST00000427143.2_Nonsense_Mutation_p.Q797*|DIP2A_ENST00000417564.2_Nonsense_Mutation_p.Q861*|DIP2A_ENST00000400274.1_Nonsense_Mutation_p.Q857* NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 861 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) GGTGGCTGAGCAGCGGCCGGA 0.637000 52 29 0 0 1 0 0 SPIRE1 56907 broad.mit.edu 37 18 12493138 12493138 + Silent SNP T T C TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr18:12493138T>C ENST00000409402.4 - 8 1389 c.1122A>G c.(1120-1122)ttA>ttG p.L374L SPIRE1_ENST00000410092.3_Silent_p.L374L|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000453447.2_Silent_p.L254L|SPIRE1_ENST00000383356.2_Silent_p.L215L|SPIRE1_ENST00000309836.5_Silent_p.L177L NM_001128626.1 NP_001122098.1 Q08AE8 SPIR1_HUMAN spire-type actin nucleation factor 1 374 WH2 2. cytoskeleton|perinuclear region of cytoplasm actin binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1) 28 TAATTTCTTCTAATATTCTTT 0.438000 30 46 0 0 1 0 0 TGIF2LX 90316 broad.mit.edu 37 X 89177196 89177196 + Missense_Mutation SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chrX:89177196G>A ENST00000561129.2 + 1 242 c.112G>A c.(112-114)Gca>Aca p.A38T TGIF2LX_ENST00000283891.5_Missense_Mutation_p.A38T Q8IUE1 TF2LX_HUMAN TGFB-induced factor homeobox 2-like, X-linked 38 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1) 40 GAGAAATAACGCAGATACAGG 0.552000 35 7 0 0 1 0 0 MRPS18B 28973 broad.mit.edu 37 6 30585647 30585647 + Missense_Mutation SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr6:30585647C>T ENST00000259873.4 + 1 162 c.5C>T c.(4-6)gCg>gTg p.A2V MRPS18B_ENST00000472229.1_3'UTR|MRPS18B_ENST00000506373.2_Missense_Mutation_p.A2V NM_014046.3 NP_054765.1 Q9Y676 RT18B_HUMAN mitochondrial ribosomal protein S18B 2 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2) 13 GTCAAGATGGCGGCGTCTGTA 0.537000 30 39 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188074 140188074 + Silent SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr5:140188074G>A ENST00000530339.1 + 1 1302 c.1302G>A c.(1300-1302)tcG>tcA p.S434S PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Silent_p.S434S|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.S434S|PCDHA1_ENST00000394633.3_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTCGCCTTCGCTGTGGGCCA 0.612000 76 53 0 0 1 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369375 86369375 + Silent SNP C C A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr13:86369375C>A ENST00000400286.2 - 2 1867 c.1269G>T c.(1267-1269)ctG>ctT p.L423L NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 423 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TTAATTTGGTCAGGTGGTTAC 0.348000 10 108 1.76689e-08 1.90919e-08 1 1 0 EXOC6B 23233 broad.mit.edu 37 2 72725629 72725629 + Missense_Mutation SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr2:72725629C>T ENST00000272427.6 - 13 1421 c.1291G>A c.(1291-1293)Gac>Aac p.D431N EXOC6B_ENST00000410104.1_Missense_Mutation_p.D431N NM_015189.1 NP_056004.1 Q9Y2D4 EXC6B_HUMAN exocyst complex component 6B 431 protein transport|vesicle docking involved in exocytosis exocyst breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 10 CTATATTGGTCTCTGATTTCT 0.353000 12 16 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179612366 179612366 + Missense_Mutation SNP T T C TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr2:179612366T>C ENST00000360870.5 - 46 14983 c.14761A>G c.(14761-14763)Aaa>Gaa p.K4921E TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 1048 Ig-like 29. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGGTGTCTTTAGTTTCAGGA 0.433000 52 124 0 0 1 0 0 TCEAL2 140597 broad.mit.edu 37 X 101381889 101381889 + Missense_Mutation SNP G G T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chrX:101381889G>T ENST00000372780.1 + 3 306 c.87G>T c.(85-87)aaG>aaT p.K29N TCEAL2_ENST00000329035.2_Missense_Mutation_p.K29N NM_080390.3 NP_525129.1 Q9H3H9 TCAL2_HUMAN transcription elongation factor A (SII)-like 2 29 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 ACGAGGGAAAGCCAGAAGTAG 0.423000 34 13 3.90053e-15 4.48561e-15 1 1 0 KIZ-AS1 101929591 broad.mit.edu 37 20 21143487 21143487 + RNA SNP G G T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr20:21143487G>T ENST00000591761.1 - 0 5091 PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA GTCGCCACTTGCAGATCATCT 0.458000 8 22 0.0381472 0.0383856 1 1 0 CXCR2P1 3580 broad.mit.edu 37 2 218925149 218925149 + RNA SNP G G A rs6758271 by1000genomes TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr2:218925149G>A ENST00000439871.1 - 0 1231 NR_002712.1 TGATCAAGCCGTGTATGGCTA 0.502000 4 49 0 0 1 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342186 60342186 + RNA SNP T T C rs79096325 TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr17:60342186T>C ENST00000581291.1 - 0 1967 breast(2)|kidney(1)|lung(2) 5 GCTGGGGGTGTTGGGAGGGGC 0.498000 4 12 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80045897 80045897 + Silent SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr17:80045897C>T ENST00000306749.2 - 18 3017 c.2799G>A c.(2797-2799)ctG>ctA p.L933L NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 933 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GCCGTACCTCCAGGGACACTG 0.667000 36 72 0 0 1 0 0 ACSS1 84532 broad.mit.edu 37 20 25011639 25011639 + Silent SNP A A G rs60849220 by1000genomes TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr20:25011639A>G ENST00000537502.1 - 1 1669 c.138T>C c.(136-138)ttT>ttC p.F46F ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000323482.4_Intron|ACSS1_ENST00000542618.1_Intron Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 0 Poly-Ala. acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GAGGAGGGCCAAAATGCAGAG 0.517000 3 23 0 0 1 0 0 ZNF417 147687 broad.mit.edu 37 19 58420556 58420556 + Nonsense_Mutation SNP T T A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr19:58420556T>A ENST00000312026.5 - 3 1254 c.1090A>T c.(1090-1092)Aag>Tag p.K364* CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Nonsense_Mutation_p.K165*|ZNF417_ENST00000595559.1_Nonsense_Mutation_p.K363* NM_152475.2 NP_689688.2 Q8TAU3 ZN417_HUMAN zinc finger protein 417 364 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1) 18 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151) AAGCAGAACTTCTGACGAAAA 0.433000 88 63 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111701420 111701420 + Missense_Mutation SNP C C A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr6:111701420C>A ENST00000435970.1 - 13 1801 c.985G>T c.(985-987)Gac>Tac p.D329Y REV3L_ENST00000368802.3_Missense_Mutation_p.D407Y|REV3L_ENST00000358835.3_Missense_Mutation_p.D407Y|REV3L_ENST00000368805.1_Missense_Mutation_p.D407Y O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 407 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) GGACTACTGTCCACTATAAAA 0.433000 DNA polymerases (catalytic subunits) 47 67 1.7489e-18 2.02571e-18 1 1 0 IFNA17 3451 broad.mit.edu 37 9 21227775 21227775 + Missense_Mutation SNP G G C TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr9:21227775G>C ENST00000413767.2 - 1 446 c.398C>G c.(397-399)cCc>cGc p.P133R NM_021268.2 NP_067091.1 P01571 IFN17_HUMAN interferon, alpha 17 133 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1) 9 Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) ATTCATCAGGGGAGTCTCTTC 0.453000 254 71 0 0 1 0 0 CCDC121 79635 broad.mit.edu 37 2 27850447 27850447 + Missense_Mutation SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr2:27850447C>T ENST00000324364.3 - 2 400 c.220G>A c.(220-222)Gaa>Aaa p.E74K CCDC121_ENST00000394775.3_Missense_Mutation_p.E236K|ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA NM_024584.4 NP_078860.2 Q6ZUS5 CC121_HUMAN coiled-coil domain containing 121 74 breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2) 14 Acute lymphoblastic leukemia(172;0.155) GAGGCTGATTCTTGTCTTCTT 0.403000 136 209 0 0 1 0 0 LLGL1 3996 broad.mit.edu 37 17 18145527 18145527 + Missense_Mutation SNP C C T rs150245335 byFrequency TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr17:18145527C>T ENST00000316843.4 + 20 3026 c.2930C>T c.(2929-2931)cCa>cTa p.P977L NM_004140.3 NP_004131.3 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) 977 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) AACGGGACCCCAAGCATCCTG 0.617000 7 140 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12164245 12164245 + Missense_Mutation SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr6:12164245G>A ENST00000379388.2 + 9 8040 c.7708G>A c.(7708-7710)Gaa>Aaa p.E2570K HIVEP1_ENST00000541134.1_Missense_Mutation_p.E435K NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 2570 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GGGAGCTCCAGAAATGCCAGC 0.542000 23 16 0 0 1 0 0 ADAM12 8038 broad.mit.edu 37 10 127843862 127843862 + Silent SNP G G T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr10:127843862G>T ENST00000368679.4 - 4 582 c.273C>A c.(271-273)gcC>gcA p.A91A ADAM12_ENST00000368676.4_Silent_p.A91A NM_003474.4 NP_003465.3 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 91 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) TGAAACTGCTGGCAATGAGAC 0.433000 9 76 0.000274275 0.000286742 1 1 0 FAM47C 442444 broad.mit.edu 37 X 37029110 37029110 + Missense_Mutation SNP C C T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chrX:37029110C>T ENST00000358047.3 + 1 2679 c.2627C>T c.(2626-2628)cCt>cTt p.P876L NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 876 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GACTTTACCCCTGAGTGCAGA 0.468000 45 12 0 0 1 0 0 TANC2 26115 broad.mit.edu 37 17 61473152 61473152 + Missense_Mutation SNP C C G TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr17:61473152C>G ENST00000424789.2 + 16 2882 c.2878C>G c.(2878-2880)Ctc>Gtc p.L960V RP11-269G24.3_ENST00000583552.1_RNA|AC015923.1_ENST00000431604.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.L960V NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 960 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 TCATGCTGCACTCCGAGGTCA 0.498000 15 6 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2602465 2602465 + Silent SNP C C A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr12:2602465C>A ENST00000399655.1 + 7 1291 c.1026C>A c.(1024-1026)ggC>ggA p.G342G CACNA1C_ENST00000399638.1_Silent_p.G342G|CACNA1C_ENST00000399595.1_Silent_p.G342G|CACNA1C_ENST00000406454.3_Silent_p.G342G|CACNA1C_ENST00000344100.3_Silent_p.G342G|CACNA1C_ENST00000399591.1_Silent_p.G342G|CACNA1C_ENST00000335762.5_Silent_p.G342G|CACNA1C_ENST00000399606.1_Silent_p.G342G|CACNA1C_ENST00000399603.1_Silent_p.G342G|CACNA1C_ENST00000480911.1_Silent_p.G342G|CACNA1C_ENST00000327702.7_Silent_p.G342G|CACNA1C_ENST00000399629.1_Silent_p.G342G|CACNA1C_ENST00000399634.1_Silent_p.G342G|CACNA1C_ENST00000399597.1_Silent_p.G342G|CACNA1C_ENST00000399644.1_Silent_p.G342G|CACNA1C_ENST00000399637.1_Silent_p.G342G|CACNA1C_ENST00000402845.3_Silent_p.G342G|CACNA1C_ENST00000399649.1_Silent_p.G342G|CACNA1C_ENST00000399601.1_Silent_p.G342G|CACNA1C_ENST00000399621.1_Silent_p.G342G|CACNA1C_ENST00000399641.1_Silent_p.G342G|CACNA1C_ENST00000347598.4_Silent_p.G342G|CACNA1C_ENST00000399617.1_Silent_p.G342G NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 342 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CCAAGCACGGCATCACCAACT 0.607000 80 161 6.86016e-32 8.24243e-32 1 1 0 SGTB 54557 broad.mit.edu 37 5 64976529 64976529 + Nonsense_Mutation SNP G G C TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr5:64976529G>C ENST00000381007.4 - 7 807 c.572C>G c.(571-573)tCa>tGa p.S191* NM_019072.2 NP_061945.1 Q96EQ0 SGTB_HUMAN small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta 191 binding large_intestine(3)|lung(3)|skin(3) 9 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487) TTTCAGATTTGACTTATAGGA 0.368000 26 92 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167097229 167097229 + Nonsense_Mutation SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr1:167097229G>A ENST00000361200.2 + 6 3027 c.2861G>A c.(2860-2862)tGg>tAg p.W954* DUSP27_ENST00000271385.5_Nonsense_Mutation_p.W954*|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Nonsense_Mutation_p.W954* Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 954 Ser-rich. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CAAAGTGACTGGTCTGGAAGT 0.483000 15 41 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128350410 128350410 + Silent SNP G G A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr2:128350410G>A ENST00000389524.4 + 17 2087 c.2034G>A c.(2032-2034)tcG>tcA p.S678S MYO7B_ENST00000428314.1_Silent_p.S678S|MYO7B_ENST00000409816.2_Silent_p.S678S Q6PIF6 MYO7B_HUMAN myosin VIIB 678 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) TGCGATACTCGGGCATGATGG 0.657000 8 7 0 0 1 0 0 SLC20A1 6574 broad.mit.edu 37 2 113418038 113418039 + Frame_Shift_Ins INS - - A TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr2:113418038_113418039insA ENST00000272542.3 + 9 2221_2222 c.1682_1683insA c.(1681-1683)catfs p.H561fs NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 561 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 GTGGCAACACCAATATGGCTTC 0.455 104 138 --- --- --- --- CYP20A1 57404 broad.mit.edu 37 2 204150380 204150380 + Frame_Shift_Del DEL A A - TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr2:204150380delA ENST00000356079.4 + 9 1019 c.896delA c.(895-897)cafs p.Q299fs CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs|CYP20A1_ENST00000461371.1_3'UTR NM_177538.2 NP_803882.1 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, polypeptide 1 299 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 11 GAAGAAGTTCAAAAAAAATTA 0.348 7 220 --- --- --- --- SYNCRIP 10492 broad.mit.edu 37 6 86332353 86332354 + Frame_Shift_Ins INS - - T TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr6:86332353_86332354insT ENST00000355238.6 - 8 1060_1061 c.854_855insA c.(853-855)aagfs p.K285fs SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 285 RRM 2. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) AAAAGCCTCTGTTTTTTTTCTT 0.411 7 271 --- --- --- --- KIAA1217 56243 broad.mit.edu 37 10 24762969 24762970 + Frame_Shift_Ins INS - - C TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr10:24762969_24762970insC ENST00000376451.2 + 2 1073_1074 c.813_814insC c.(811-816)atccaafs p.Q272fs KIAA1217_ENST00000396446.1_Frame_Shift_Ins_p.Q272fs|KIAA1217_ENST00000458595.1_Frame_Shift_Ins_p.Q554fs|KIAA1217_ENST00000376454.3_Frame_Shift_Ins_p.Q554fs|KIAA1217_ENST00000376452.3_Frame_Shift_Ins_p.Q554fs|KIAA1217_ENST00000430453.2_Frame_Shift_Ins_p.Q475fs|KIAA1217_ENST00000307544.6_Frame_Shift_Ins_p.Q272fs|KIAA1217_ENST00000396445.1_Frame_Shift_Ins_p.Q272fs|KIAA1217_ENST00000376462.1_Frame_Shift_Ins_p.Q474fs Q5T5P2 SKT_HUMAN KIAA1217 554 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CGGCGACAATACCCAAAGACAG 0.550 30 12 --- --- --- --- H2AFX 3014 broad.mit.edu 37 11 118965860 118965860 + Frame_Shift_Del DEL C C - TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr11:118965860delC ENST00000530167.1 - 1 317 c.245delG c.(244-246)ccfs p.R82fs NM_002105.2 NP_002096.1 P16104 H2AX_HUMAN H2A histone family, member X 82 DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation nucleoplasm|nucleosome DNA binding|enzyme binding|histone binding lung(3) 3 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) CTGCAGGTGGCGGGGGATGAT 0.662 Chromatin Structure OREG0021395 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 52 120 --- --- --- --- ABCC4 10257 broad.mit.edu 37 13 95696016 95696016 + Frame_Shift_Del DEL T T - TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr13:95696016delT ENST00000376887.4 - 29 3769 c.3655delA c.(3655-3657)tcfs p.I1219fs ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 1219 ABC transporter 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TTCTCCCGGATTTTTTTTTGT 0.378 7 166 --- --- --- --- SMG1P4 100507526 broad.mit.edu 37 16 21893285 21893299 + RNA DEL TATTGGTTAGCTTGT TATTGGTTAGCTTGT - TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr16:21893285_21893299delTATTGGTTAGCTTGT ENST00000540706.1 - 0 1710 GTAATTAAAATATTGGTTAGCTTGTATTCCTATGC 0.335 17 8 --- --- --- --- WSCD1 23302 broad.mit.edu 37 17 6021339 6021350 + In_Frame_Del DEL CCGACGCACCAT CCGACGCACCAT - TCGA-CQ-A4CI-01A-11D-A25Y-08 TCGA-CQ-A4CI-10A-01D-A25Y-08 Untested Somatic Phase_I WXS none Illumina GAIIx abcadacd-7540-4143-ab82-15889248d286 83a03ed6-2b0b-42f5-bac6-d5146df9c520 g.chr17:6021339_6021350delCCGACGCACCAT ENST00000574946.1 + 8 1596_1607 c.1206_1217delCCGACGCACCAT c.(1204-1218)agc>ag p.SRRTI402del WSCD1_ENST00000573634.1_In_Frame_Del_p.SRRTI286del|WSCD1_ENST00000574232.1_In_Frame_Del_p.SRRTI402del|WSCD1_ENST00000539421.1_In_Frame_Del_p.SRRTI402del|WSCD1_ENST00000317744.5_In_Frame_Del_p.SRRTI402del Q658N2 WSCD1_HUMAN WSC domain containing 1 402 integral to membrane sulfotransferase activity p.R404H(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1) 35 ACTGGCGGAGCCGACGCACCATCTGTGTCAAA 0.552 29 39 --- --- --- ---