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 INSRR 3645 broad.mit.edu 37 1 156812204 156812204 + Missense_Mutation SNP G G A TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr1:156812204G>A ENST00000368195.3 - 18 3619 c.3223C>T c.(3223-3225)Cgg>Tgg p.R1075W NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 1075 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCCTCAGGCCGCAAAGATCGA 0.602000 4 192 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274416 39274416 + Missense_Mutation SNP C C T rs408579 by1000genomes TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr17:39274416C>T ENST00000391413.2 - 1 190 c.152G>A c.(151-153)aGg>aAg p.R51K NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51K(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCACTGGGGCCTGCAGCAGCT 0.672000 4 83 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 3 59 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 4 65 0 0 1 0 0 TFAP4 7023 broad.mit.edu 37 16 4310225 4310225 + Missense_Mutation SNP T T G TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr16:4310225T>G ENST00000204517.6 - 6 1016 c.688A>C c.(688-690)Acc>Ccc p.T230P NM_003223.2 NP_003214.1 Q01664 TFAP4_HUMAN transcription factor AP-4 (activating enhancer binding protein 4) 230 Pro-rich. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle transcriptional repressor complex E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 GGGTGGTGGGTGGGGGCCGGA 0.622000 6 33 0 0 1 0 0 ZNF48 197407 broad.mit.edu 37 16 30409411 30409411 + Silent SNP C C T TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr16:30409411C>T ENST00000320159.2 + 2 1216 c.840C>T c.(838-840)tgC>tgT p.C280C NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2 NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2 Q96MX3 ZNF48_HUMAN zinc finger protein 48 280 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1) 21 GCACTGATTGCGGCAAGAGGT 0.622000 3 55 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48239340 48239340 + Missense_Mutation SNP C C T TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr16:48239340C>T ENST00000394747.1 - 12 2138 c.1789G>A c.(1789-1791)Gca>Aca p.A597T ABCC11_ENST00000537808.1_Missense_Mutation_p.A597T|ABCC11_ENST00000394748.1_Missense_Mutation_p.A597T|ABCC11_ENST00000353782.5_Missense_Mutation_p.A597T|ABCC11_ENST00000356608.2_Missense_Mutation_p.A597T NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 597 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TTGTCATATGCGCCTCCCATG 0.622000 4 209 0 0 1 0 0 MEOX1 4222 broad.mit.edu 37 17 41720986 41720986 + Missense_Mutation SNP G G C TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr17:41720986G>C ENST00000318579.4 - 2 931 c.512C>G c.(511-513)gCc>gGc p.A171G MEOX1_ENST00000329168.3_Intron|MEOX1_ENST00000549132.1_Intron|MEOX1_ENST00000393661.2_Missense_Mutation_p.A56G NM_001040002.1|NM_004527.3 NP_001035091.1|NP_004518.1 P50221 MEOX1_HUMAN mesenchyme homeobox 1 171 nucleus sequence-specific DNA binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 8 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0753) CTCCTTGCGGGCTTTGCTGCT 0.577000 4 24 0 0 1 0 0 MORN4 118812 broad.mit.edu 37 10 99376044 99376044 + Silent SNP C C T TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr10:99376044C>T ENST00000335628.3 - 4 590 c.591G>A c.(589-591)aaG>aaA p.K197K PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000307450.6_Silent_p.K139K|PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000478953.1_3'UTR Q8NDC4 MORN4_HUMAN MORN repeat containing 4 139 large_intestine(1)|lung(1)|stomach(2) 4 TTCTGGCTGACTTGGAGGCGC 0.527000 7 54 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274415 39274415 + Silent SNP C C T rs425487 by1000genomes TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr17:39274415C>T ENST00000391413.2 - 1 191 c.153G>A c.(151-153)agG>agA p.R51R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51R(6) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) AGCACTGGGGCCTGCAGCAGC 0.667000 4 85 0 0 1 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105924087 105924087 + Silent SNP C C A TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr2:105924087C>A ENST00000393359.2 - 2 1098 c.672G>T c.(670-672)gcG>gcT p.A224A TGFBRAP1_ENST00000258449.1_Silent_p.A224A Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 224 CNH. regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 CTCCGGGGCCCGCCAGCAGGA 0.592000 4 212 3.59834e-05 3.68012e-05 1 1 0 PLD2 5338 broad.mit.edu 37 17 4712837 4712837 + Missense_Mutation SNP G G A TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr17:4712837G>A ENST00000263088.6 + 7 736 c.605G>A c.(604-606)cGc>cAc p.R202H PLD2_ENST00000572940.1_Missense_Mutation_p.R202H NM_001243108.1|NM_002663.4 NP_001230037.1|NP_002654.3 O14939 PLD2_HUMAN phospholipase D2 202 cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2) 31 Choline(DB00122) GACTTGGGCCGCAAAGGACTG 0.567000 4 113 0 0 1 0 0 ARIH2 10425 broad.mit.edu 37 3 49012412 49012412 + Splice_Site SNP G G A TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr3:49012412G>A ENST00000356401.4 + 11 1300 c.961_splice c.e11+1 p.D321_splice ARIH2_ENST00000449376.1_Splice_Site_p.D321_splice|ARIH2_ENST00000490095.1_3'UTR NM_006321.2 NP_006312.1 O95376 ARI2_HUMAN ariadne RBR E3 ubiquitin protein ligase 2 321 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) ATGTAAACACGGTGAGTTCCA 0.458000 4 214 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 13 75 0 0 1 0 0 WASF1 8936 broad.mit.edu 37 6 110422901 110422901 + Missense_Mutation SNP G G A rs150788183 by1000genomes TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr6:110422901G>A ENST00000392589.1 - 10 2248 c.1412C>T c.(1411-1413)cCt>cTt p.P471L WASF1_ENST00000392587.2_Missense_Mutation_p.P471L|WASF1_ENST00000359451.2_Missense_Mutation_p.P471L|WASF1_ENST00000392586.1_Missense_Mutation_p.P471L|WASF1_ENST00000392588.1_Missense_Mutation_p.P471L NM_003931.2 NP_003922.1 Q92558 WASF1_HUMAN WAS protein family, member 1 471 actin filament polymerization|cellular component movement actin cytoskeleton actin binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) AGGAGATGGAGGCATTAATGG 0.517000 8 160 0 0 1 0 0 ZNF587B 100293516 broad.mit.edu 37 19 58352292 58352292 + Missense_Mutation SNP A A G rs2562053 TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr19:58352292A>G ENST00000442832.4 + 3 484 c.250A>G c.(250-252)Aca>Gca p.T84A ZNF587B_ENST00000316462.4_Missense_Mutation_p.T83A|CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000594901.1_Missense_Mutation_p.T84A NM_001204818.1 NP_001191747.1 B4DR41 B4DR41_HUMAN zinc finger protein 587B 84 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding GACTCCTGTGACAGGTGTGTC 0.498000 3 37 0 0 1 0 0 APOL6 80830 broad.mit.edu 37 22 36055369 36055369 + Missense_Mutation SNP C C T TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr22:36055369C>T ENST00000409652.3 + 3 1034 c.758C>T c.(757-759)tCa>tTa p.S253L NM_030641.3 NP_085144.1 Q9BWW8 APOL6_HUMAN apolipoprotein L, 6 253 lipoprotein metabolic process cytoplasm|extracellular region lipid binding|lipid transporter activity haematopoietic_and_lymphoid_tissue(1)|lung(4) 5 GCCACTCTCTCAAAGGAATGG 0.537000 6 88 0 0 1 0 0 ZNF587B 100293516 broad.mit.edu 37 19 58352661 58352661 + Missense_Mutation SNP T T A rs148810844 by1000genomes TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr19:58352661T>A ENST00000442832.4 + 3 853 c.619T>A c.(619-621)Ttt>Att p.F207I ZNF587B_ENST00000316462.4_Intron|CTD-2583A14.10_ENST00000598031.1_Intron|ZNF587B_ENST00000594901.1_Missense_Mutation_p.F207I NM_001204818.1 NP_001191747.1 B4DR41 B4DR41_HUMAN zinc finger protein 587B 207 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.F207I(1) TGTGTCTCCCTTTCAGTGTGG 0.493000 5 65 0 0 1 0 0 CARNS1 57571 broad.mit.edu 37 11 67191326 67191326 + Nonsense_Mutation SNP C C T TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr11:67191326C>T ENST00000445895.2 + 9 2221 c.2107C>T c.(2107-2109)Cga>Tga p.R703* CARNS1_ENST00000307823.3_Nonsense_Mutation_p.R580*|CARNS1_ENST00000531040.1_Nonsense_Mutation_p.R677*|CARNS1_ENST00000423745.2_Nonsense_Mutation_p.R580* A5YM72 CRNS1_HUMAN carnosine synthase 1 580 ATP-grasp. carnosine biosynthetic process ATP binding|carnosine synthase activity|metal ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7) 11 CCGGATTACCCGAGACTTGCA 0.632000 3 45 0 0 1 0 0 GYS1 2997 broad.mit.edu 37 19 49485993 49485993 + Missense_Mutation SNP G G A TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr19:49485993G>A ENST00000323798.3 - 6 1121 c.925C>T c.(925-927)Cgg>Tgg p.R309W GYS1_ENST00000540532.1_Intron|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000541188.1_Missense_Mutation_p.R229W|GYS1_ENST00000263276.6_Missense_Mutation_p.R245W NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 309 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) AAATGGCCCCGCACAAACTCC 0.542000 4 188 0 0 1 0 0 SLC9C1 285335 broad.mit.edu 37 3 111918172 111918172 + Missense_Mutation SNP T T C TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr3:111918172T>C ENST00000305815.5 - 20 2771 c.2519A>G c.(2518-2520)aAt>aGt p.N840S SLC9C1_ENST00000487372.1_Missense_Mutation_p.N792S NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 840 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity CCTTACCTTATTAATTCCAGC 0.308000 11 127 0 0 1 0 0 PCSK7 9159 broad.mit.edu 37 11 117090340 117090340 + Silent SNP G G A TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr11:117090340G>A ENST00000320934.3 - 10 1920 c.1290C>T c.(1288-1290)gaC>gaT p.D430D PCSK7_ENST00000540028.1_Silent_p.D71D NM_004716.2 NP_004707.2 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 430 Catalytic. peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 16 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) TGTGCTGGACGTCACGCCACG 0.627000 T IGH@ MLCLS 4 48 0 0 1 0 0 ASB15 142685 broad.mit.edu 37 7 123269330 123269330 + Missense_Mutation SNP G G A TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr7:123269330G>A ENST00000451558.1 + 12 1803 c.1282G>A c.(1282-1284)Gac>Aac p.D428N ASB15_ENST00000434204.1_Missense_Mutation_p.D428N|ASB15_ENST00000540573.1_Missense_Mutation_p.D428N|ASB15_ENST00000275699.3_Missense_Mutation_p.D428N|ASB15_ENST00000451215.1_Missense_Mutation_p.D428N Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 428 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 TGCTCTAAACGACGAGGTAAT 0.418000 4 280 0 0 1 0 0 GPR17 0 broad.mit.edu 37 2 128408704 128408704 + Missense_Mutation SNP C C T TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr2:128408704C>T ENST00000544369.1 + 4 1090 c.479C>T c.(478-480)gCc>gTc p.A160V LIMS2_ENST00000545738.2_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000272644.3_Missense_Mutation_p.A160V|GPR17_ENST00000393018.3_Missense_Mutation_p.A160V|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000409808.2_Intron NM_001161415.1 NP_001154887.1 Q13304 GPR17_HUMAN G protein-coupled receptor 17 160 integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1) 19 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) CGTTTCCTGGCCATTGTGCAC 0.617000 5 160 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 4 35 0.150653 0.150653 1 1 0 FEN1 2237 broad.mit.edu 37 11 61563280 61563280 + Silent SNP C C A TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr11:61563280C>A ENST00000305885.2 + 2 860 c.447C>A c.(445-447)ggC>ggA p.G149G FADS2_ENST00000574708.1_Intron NM_004111.5 NP_004102.1 P39748 FEN1_HUMAN flap structure-specific endonuclease 1 149 I-domain. base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection mitochondrion|nucleolus|nucleoplasm 5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity endometrium(1)|large_intestine(4)|lung(1)|ovary(1) 7 GCCTCATGGGCATCCCTTATC 0.567000 Editing and processing nucleases 9 95 1.12685e-05 1.17926e-05 1 1 0 KANK1 23189 broad.mit.edu 37 9 732477 732477 + Silent SNP G G A TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr9:732477G>A ENST00000382303.1 + 10 3757 c.3105G>A c.(3103-3105)gaG>gaA p.E1035E KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.E877E NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1035 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TTGAAGAAGAGGAGGAGGAGG 0.468000 4 181 0 0 1 0 0 IQCE 23288 broad.mit.edu 37 7 2618125 2618125 + Missense_Mutation SNP C C T TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr7:2618125C>T ENST00000402050.2 + 8 779 c.595C>T c.(595-597)Cgg>Tgg p.R199W IQCE_ENST00000404984.1_Missense_Mutation_p.R148W|IQCE_ENST00000438376.2_Missense_Mutation_p.R183W|IQCE_ENST00000325979.7_Missense_Mutation_p.R134W NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E 199 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) GGATTTTGTTCGGACTCTGGC 0.592000 4 118 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 102 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 4 72 0 0 1 0 0 OR5AU1 390445 broad.mit.edu 37 14 21624014 21624014 + Silent SNP C C G TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr14:21624014C>G ENST00000304418.3 - 1 208 c.171G>C c.(169-171)ctG>ctC p.L57L NM_001004731.1 NP_001004731.1 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, member 1 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) TCCCTTGGCTCAGGTTTGCCC 0.552000 4 99 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 4 94 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47951176 47951176 + Missense_Mutation SNP C C T TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr3:47951176C>T ENST00000426837.2 - 10 4873 c.4786G>A c.(4786-4788)Gtg>Atg p.V1596M MAP4_ENST00000395734.3_Intron|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.V186M P27816 MAP4_HUMAN microtubule-associated protein 4 969 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TCTACTGGCACTCCAGGAAGG 0.493000 4 112 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 102 0 0 1 0 0 CKMT1B 1159 broad.mit.edu 37 15 43891436 43891436 + Missense_Mutation SNP C C T TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr15:43891436C>T ENST00000300283.6 + 10 1611 c.1219C>T c.(1219-1221)Cgc>Tgc p.R407C CKMT1B_ENST00000441322.1_Missense_Mutation_p.R407C NM_020990.3 NP_066270.1 P12532 KCRU_HUMAN creatine kinase, mitochondrial 1B 407 creatine metabolic process mitochondrial inner membrane ATP binding|creatine kinase activity large_intestine(1)|lung(3)|skin(1) 5 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;3.56e-07) Creatine(DB00148) CCAGGATATCCGCATCCCCAC 0.493000 10 190 0 0 1 0 0 AURKB 9212 broad.mit.edu 37 17 8110638 8110638 + Missense_Mutation SNP T T G TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr17:8110638T>G ENST00000316199.6 - 5 334 c.257A>C c.(256-258)aAa>aCa p.K86T AURKB_ENST00000585124.1_Missense_Mutation_p.K85T|AURKB_ENST00000534871.1_Missense_Mutation_p.K44T|AURKB_ENST00000578549.1_Missense_Mutation_p.K85T|AURKB_ENST00000535053.1_Missense_Mutation_p.K86T Q96GD4 AURKB_HUMAN aurora kinase B 85 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|lung(2) 4 AAACTTGCCTTTGCCCAGAGG 0.502000 5 50 0 0 1 0 0 FEN1 2237 broad.mit.edu 37 11 61563274 61563274 + Silent SNP C C T TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr11:61563274C>T ENST00000305885.2 + 2 854 c.441C>T c.(439-441)ctC>ctT p.L147L FADS2_ENST00000574708.1_Intron NM_004111.5 NP_004102.1 P39748 FEN1_HUMAN flap structure-specific endonuclease 1 147 I-domain. base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection mitochondrion|nucleolus|nucleoplasm 5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity endometrium(1)|large_intestine(4)|lung(1)|ovary(1) 7 TGCTGAGCCTCATGGGCATCC 0.567000 Editing and processing nucleases 8 101 0 0 1 0 0 OR4N4 283694 broad.mit.edu 37 15 22382965 22382965 + Missense_Mutation SNP C C T TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr15:22382965C>T ENST00000328795.4 + 1 584 c.493C>T c.(493-495)Cgc>Tgc p.R165C RP11-69H14.6_ENST00000558896.1_RNA NM_001005241.2 NP_001005241.2 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, member 4 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R165S(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) CCTCATCCTCCGCTTGCCTTT 0.517000 7 484 0 0 1 0 0 PCSK9 255738 broad.mit.edu 37 1 55505552 55505553 + In_Frame_Ins INS - - CTG rs35574083 TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr1:55505552_55505553insCTG ENST00000302118.5 + 1 332_333 c.42_43insCTG c.(40-45)cctgct>ccCTGtgct p.14_15PA>PCA PCSK9_ENST00000452118.2_In_Frame_Ins_p.14_15PA>PCA NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 14 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding p.P14_L15insL(2) NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 Ggccgctgccactgctgctgct 0.703 4 5 --- --- --- --- ICK 22858 broad.mit.edu 37 6 52883129 52883129 + Splice_Site DEL T T - TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr6:52883129delT ENST00000356971.3 - 8 1151 c.663_splice c.e8+1 p.K221_splice ICK_ENST00000350082.5_Splice_Site_p.K221_splice NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 221 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TATCATTACCTTTTTTGGTGT 0.502 7 387 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146350671 146350672 + Frame_Shift_Ins INS - - T TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr6:146350671_146350672insT ENST00000392299.2 + 2 488_489 c.18_19insT c.(16-21)ttttttfs p.FF6fs GRM1_ENST00000282753.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.FF6fs Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 6 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GGCTCCTTTTGTTTTTTTTCCC 0.644 7 348 --- --- --- --- RP13-726E6.2 0 broad.mit.edu 37 11 3552650 3552651 + RNA INS - - G rs34642454 TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr11:3552650_3552651insG ENST00000527970.1 - 0 285 CAGCACCCCATGGGGGGGCCCT 0.500 6 10 --- --- --- --- FAR2 55711 broad.mit.edu 37 12 29450110 29450110 + Frame_Shift_Del DEL A A - TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr12:29450110delA ENST00000182377.4 + 4 790 c.522delA c.(520-522)ccfs p.P174fs FAR2_ENST00000547116.1_Frame_Shift_Del_p.P77fs|FAR2_ENST00000536681.2_Frame_Shift_Del_p.P174fs|RP11-996F15.2_ENST00000553105.1_RNA NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 174 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 CTGTGGAGCCAAAAAAAATCA 0.388 7 272 --- --- --- --- RAPGEF3 10411 broad.mit.edu 37 12 48151714 48151714 + Frame_Shift_Del DEL G G - TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr12:48151714delG ENST00000405493.2 - 2 237 c.28delC c.(28-30)gafs p.R10fs RAPGEF3_ENST00000395358.3_Frame_Shift_Del_p.R52fs|RAPGEF3_ENST00000389212.3_Frame_Shift_Del_p.R52fs|RAPGEF3_ENST00000449771.2_Frame_Shift_Del_p.R52fs|RAPGEF3_ENST00000548919.1_Frame_Shift_Del_p.R10fs|RAPGEF3_ENST00000549151.1_Frame_Shift_Del_p.R10fs|RAPGEF3_ENST00000549347.1_5'UTR|RAPGEF3_ENST00000171000.4_Frame_Shift_Del_p.R10fs NM_001098532.2|NM_006105.5 NP_001092002.1|NP_006096.2 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 10 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) GAGCAGCTTCGGGGCCGGTGC 0.662 2 4 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 2 4 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG ENST00000398472.1 - 1 742_798 c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG c.(253-312)cgt>cg p.RPLCCQTTCHPSCGMSSCCR85del Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 85 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. Missing (in allele KAP4.10). keratin filament p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2) kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC 0.646 7 86 --- --- --- --- TRIP10 9322 broad.mit.edu 37 19 6743220 6743221 + Frame_Shift_Ins INS - - G rs147776897 TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chr19:6743220_6743221insG ENST00000600428.1 + 5 683_684 c.37_38insG c.(37-39)gcgfs p.A13fs TRIP10_ENST00000313244.9_Frame_Shift_Ins_p.A121fs|TRIP10_ENST00000596758.1_Frame_Shift_Ins_p.A121fs|TRIP10_ENST00000313285.8_Frame_Shift_Ins_p.A121fs Q15642 CIP4_HUMAN thyroid hormone receptor interactor 10 121 FCH.|Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity). actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding p.R121L(1) NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 16 CCAAGAAGGGCGGCGGGCCCAG 0.559 7 82 --- --- --- --- GAGE2D 729408 broad.mit.edu 37 X 49208295 49208296 + In_Frame_Ins INS - - TAT TCGA-M7-A720-01A-12D-A32B-08 TCGA-M7-A720-10A-01D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5cba5884-4340-40e8-a83c-7377f5436f29 cd75bca3-514a-46d7-9c45-64d7da925e78 g.chrX:49208295_49208296insTAT ENST00000404720.2 + 2 96_97 c.24_25insTAT c.(22-27)acatcg>acTATatcg p.8_9TS>TIS NM_001098407.1|NM_012196.1 NP_001091877.1|NP_036328.1 G antigen 2D GAAGATCGACCTATCGGCCTAG 0.465 12 19 --- --- --- ---