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 PLXNA4 91584 broad.mit.edu 37 7 131844259 131844259 + Missense_Mutation SNP G G A TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr7:131844259G>A ENST00000359827.3 - 25 5595 c.4633C>T c.(4633-4635)Cgg>Tgg p.R1545W PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1545W Q9HCM2 PLXA4_HUMAN plexin A4 1545 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GCTTTGGGCCGGTGGGAGCAA 0.557000 4 200 0 0 1 0 0 MGA 23269 broad.mit.edu 37 15 41961691 41961691 + Missense_Mutation SNP A A C TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr15:41961691A>C ENST00000219905.7 + 2 780 c.599A>C c.(598-600)tAc>tCc p.Y200S MGA_ENST00000568630.1_Intron|MGA_ENST00000570161.1_Missense_Mutation_p.Y200S|MGA_ENST00000389936.4_Missense_Mutation_p.Y200S|MGA_ENST00000566586.1_Missense_Mutation_p.Y200S|MGA_ENST00000545763.1_Missense_Mutation_p.Y200S NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 200 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) ATGCATCGTTACCTGCCGAGG 0.438000 5 70 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791715 42791715 + Missense_Mutation SNP C C T TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr19:42791715C>T ENST00000572681.2 + 6 3396 c.3328C>T c.(3328-3330)Cgg>Tgg p.R1110W CIC_ENST00000160740.3_Missense_Mutation_p.R201W|CIC_ENST00000575354.2_Missense_Mutation_p.R201W Q96RK0 CIC_HUMAN capicua transcriptional repressor 201 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.R201W(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GGACCACATCCGGCGGCCCAT 0.622000 """Mis, F, S""" oligodendroglioma 17 8 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139370473 139370473 + Missense_Mutation SNP C C G TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr9:139370473C>G ENST00000313050.7 - 1 1668 c.1595G>C c.(1594-1596)aGg>aCg p.R532T SEC16A_ENST00000290037.6_Missense_Mutation_p.R354T|SEC16A_ENST00000431893.2_Missense_Mutation_p.R354T|SEC16A_ENST00000371706.3_Missense_Mutation_p.R354T NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 354 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GCCTGAGAGCCTTCCGTGGCT 0.547000 16 17 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212765 26212765 + Silent SNP C C T TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chrX:26212765C>T ENST00000379034.1 + 2 951 c.802C>T c.(802-804)Cta>Tta p.L268L NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 268 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 TGTCAGCAAGCTAGGCCTCCC 0.522000 57 65 0 0 1 0 0 KIAA0100 9703 broad.mit.edu 37 17 26951259 26951259 + Missense_Mutation SNP T T C TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr17:26951259T>C ENST00000528896.2 - 25 4818 c.4744A>G c.(4744-4746)Aac>Gac p.N1582D KIAA0100_ENST00000544884.1_Missense_Mutation_p.N1439D|KIAA0100_ENST00000389003.3_Missense_Mutation_p.N1439D NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 1582 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) ACCTGACAGTTGACCAATTCA 0.448000 14 98 0 0 1 0 0 ELK1 2002 broad.mit.edu 37 X 47497377 47497377 + Missense_Mutation SNP G G A TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chrX:47497377G>A ENST00000247161.3 - 4 958 c.859C>T c.(859-861)Ccc>Tcc p.P287S ELK1_ENST00000376983.3_Missense_Mutation_p.P287S|ELK1_ENST00000343894.4_Intron|ELK1_ENST00000592066.1_Missense_Mutation_p.P233S NM_005229.4 NP_005220.2 P19419 ELK1_HUMAN ELK1, member of ETS oncogene family 287 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2) 10 ACAACCGCGGGCAGCCGGGCT 0.667000 8 7 0 0 1 0 0 DNAJC8 22826 broad.mit.edu 37 1 28527866 28527866 + Missense_Mutation SNP G G A TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr1:28527866G>A ENST00000263697.4 - 9 681 c.655C>T c.(655-657)Cgt>Tgt p.R219C DNAJC8_ENST00000489277.1_5'UTR NM_014280.2 NP_055095.2 O75937 DNJC8_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 8 219 nuclear mRNA splicing, via spliceosome|protein folding nucleoplasm heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649) CTGTCCACACGACCATCTCGA 0.488000 4 77 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62196762 62196762 + Missense_Mutation SNP G G A TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr20:62196762G>A ENST00000467148.1 - 8 3482 c.3413C>T c.(3412-3414)aCc>aTc p.T1138I HELZ2_ENST00000427522.2_Missense_Mutation_p.T569I NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CCGCTCGAAGGTCTCTGGCAC 0.701000 11 12 0 0 1 0 0 SDHAP3 0 broad.mit.edu 37 5 1593264 1593264 + RNA SNP C C T rs111700178 by1000genomes TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr5:1593264C>T ENST00000436493.2 - 0 361 AGGGCACATGCCTGACCAAAG 0.557000 4 38 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56566784 56566784 + Silent SNP A A C TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr12:56566784A>C ENST00000394023.3 - 18 1785 c.1680T>G c.(1678-1680)gcT>gcG p.A560A SMARCC2_ENST00000347471.4_Silent_p.A560A|SMARCC2_ENST00000550164.1_Silent_p.A560A|SMARCC2_ENST00000267064.4_Intron|RP11-977G19.5_ENST00000553176.1_RNA NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 550 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) CCTTTCGCCCAGCCTTGGTAT 0.622000 13 20 0 0 1 0 0 EZH1 2145 broad.mit.edu 37 17 40870506 40870506 + Silent SNP G G A TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr17:40870506G>A ENST00000428826.2 - 9 1018 c.897C>T c.(895-897)tgC>tgT p.C299C EZH1_ENST00000435174.1_Silent_p.C160C|EZH1_ENST00000415827.2_Silent_p.C290C|EZH1_ENST00000592743.1_Silent_p.C299C|EZH1_ENST00000590078.1_Silent_p.C229C|EZH1_ENST00000585893.1_Silent_p.C259C Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) 299 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) AGCAGCGCCGGCAAAAAAGTG 0.537000 3 40 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43237188 43237188 + Missense_Mutation SNP T T C TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr19:43237188T>C ENST00000327495.5 - 3 641 c.457A>G c.(457-459)Agc>Ggc p.S153G PSG3_ENST00000595140.1_Missense_Mutation_p.S153G NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 153 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) AAGTTGCTGCTGGAGATGGAG 0.517000 96 26 0 0 1 0 0 MAMDC4 158056 broad.mit.edu 37 9 139749232 139749232 + Missense_Mutation SNP T T A TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr9:139749232T>A ENST00000445819.1 + 9 1003 c.953T>A c.(952-954)gTg>gAg p.V318E MAMDC4_ENST00000485732.1_Intron|MAMDC4_ENST00000317446.2_Missense_Mutation_p.V318E Q6UXC1 AEGP_HUMAN MAM domain containing 4 318 MAM 2. protein transport integral to membrane breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CTGGTCTCCGTGGCCGAGCCT 0.692000 3 58 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558761 113558761 + Silent SNP G G A TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr7:113558761G>A ENST00000284601.3 - 1 359 c.291C>T c.(289-291)gaC>gaT p.D97D NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 97 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TGTGGAAAATGTCCGTCCCTA 0.383000 36 48 0 0 1 0 0 SPDYE4 388333 broad.mit.edu 37 17 8659725 8659725 + Missense_Mutation SNP A A C TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr17:8659725A>C ENST00000328794.6 - 3 546 c.370T>G c.(370-372)Tgg>Ggg p.W124G NM_001128076.1 NP_001121548.1 A6NLX3 SPDE4_HUMAN speedy/RINGO cell cycle regulator family member E4 124 breast(1)|endometrium(2)|kidney(1) 4 TCTTTGTCCCAGGCCAGGAAT 0.537000 20 166 0 0 1 0 0 SLFN12 55106 broad.mit.edu 37 17 33750022 33750022 + Missense_Mutation SNP G G A rs143225670 TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr17:33750022G>A ENST00000394562.1 - 4 549 c.26C>T c.(25-27)aCg>aTg p.T9M SLFN12_ENST00000304905.5_Missense_Mutation_p.T9M|SLFN12_ENST00000452764.3_Missense_Mutation_p.T9M Q8IYM2 SLN12_HUMAN schlafen family member 12 9 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGCATAATTCGTTTCCAAATC 0.388000 56 76 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10419889 10419889 + Missense_Mutation SNP C C T rs61730792 byFrequency TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr17:10419889C>T ENST00000226207.5 - 3 165 c.71G>A c.(70-72)cGa>cAa p.R24Q CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 24 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.R24Q(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GGCTTCAATTCGCTCCCTTTC 0.507000 59 54 0 0 1 0 0 CPO 130749 broad.mit.edu 37 2 207825632 207825632 + Silent SNP G G A TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr2:207825632G>A ENST00000272852.3 + 6 586 c.540G>A c.(538-540)acG>acA p.T180T NM_173077.2 NP_775100.1 Q8IVL8 CBPO_HUMAN carboxypeptidase O 180 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142) GTTTTGGGACGGATCTCAATC 0.388000 4 150 0 0 1 0 0 CRX 1406 broad.mit.edu 37 19 48342774 48342774 + Silent SNP A A T TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr19:48342774A>T ENST00000221996.7 + 4 656 c.450A>T c.(448-450)tcA>tcT p.S150S TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Silent_p.S150S NM_000554.4 NP_000545.1 O43186 CRX_HUMAN cone-rod homeobox 150 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1) 23 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) CCGGCCCCTCAGGCTCCCCAA 0.667000 3 37 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr22:18844766G>A ENST00000412938.1 + 0 3016 CAGCCTCTGAGGGCAGCAGTG 0.557000 3 13 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 8 84 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68273386 68273386 + Missense_Mutation SNP G G A TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr14:68273386G>A ENST00000347230.4 - 6 1031 c.893C>T c.(892-894)cCg>cTg p.P298L ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P298L NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 298 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TAGATGATCCGGTGAGACTGA 0.478000 13 3 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29346469 29346469 + Missense_Mutation SNP C C G TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr15:29346469C>G ENST00000558402.1 + 5 981 c.382C>G c.(382-384)Cct>Gct p.P128A APBA2_ENST00000411764.1_Missense_Mutation_p.P128A|APBA2_ENST00000561069.1_Missense_Mutation_p.P128A|APBA2_ENST00000558330.1_Missense_Mutation_p.P128A|APBA2_ENST00000558259.1_Missense_Mutation_p.P128A Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 128 nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) CAGTGCACACCCTGTGGACAC 0.657000 30 38 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G G A rs112083427 TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr6:170871052G>A ENST00000392092.2 + 3 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q76Q(4) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.572000 4 35 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 31 43 0 0 1 0 0 ELK1 2002 broad.mit.edu 37 X 47497378 47497378 + Silent SNP C C G TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chrX:47497378C>G ENST00000247161.3 - 4 957 c.858G>C c.(856-858)ctG>ctC p.L286L ELK1_ENST00000376983.3_Silent_p.L286L|ELK1_ENST00000343894.4_Intron|ELK1_ENST00000592066.1_Silent_p.L232L NM_005229.4 NP_005220.2 P19419 ELK1_HUMAN ELK1, member of ETS oncogene family 286 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2) 10 CAACCGCGGGCAGCCGGGCTG 0.672000 8 8 0 0 1 0 0 OR4B1 119765 broad.mit.edu 37 11 48239206 48239206 + Missense_Mutation SNP C C T TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr11:48239206C>T ENST00000309562.2 + 1 863 c.845C>T c.(844-846)cCc>cTc p.P282L NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 ATGCTGAACCCCATCATTTAC 0.458000 26 46 0 0 1 0 0 XXbac-BPG308J9.3 0 broad.mit.edu 37 6 29231829 29231829 + RNA SNP G G A TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr6:29231829G>A ENST00000441381.1 + 0 300 AGGAGCATAAGCCAACCAAAG 0.363000 4 65 0 0 1 0 0 AL928742.12 0 broad.mit.edu 37 14 106066370 106066370 + RNA SNP T T C rs1134593 TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr14:106066370T>C ENST00000412518.1 - 0 6 IGHE_ENST00000576077.1_RNA|IGHE_ENST00000577108.1_RNA CACAGCTGGATGGAGCCCTGG 0.602000 5 83 0 0 1 0 0 RSPO2 340419 broad.mit.edu 37 8 109001439 109001439 + Missense_Mutation SNP C C T TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr8:109001439C>T ENST00000276659.5 - 3 748 c.128G>A c.(127-129)tGt>tAt p.C43Y RSPO2_ENST00000517939.1_5'UTR|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron NM_178565.4 NP_848660.3 Q6UXX9 RSPO2_HUMAN R-spondin 2 43 Wnt receptor signaling pathway extracellular region heparin binding EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) ACAAGACAAACAACCCTTGCA 0.383000 14 21 0 0 1 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47246206 47246206 + Missense_Mutation SNP C C T TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr17:47246206C>T ENST00000300404.2 + 10 1498 c.1439C>T c.(1438-1440)aCg>aTg p.T480M B4GALNT2_ENST00000504681.1_Missense_Mutation_p.T394M|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.T420M NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 480 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) CTGGCCCACACGGAGCGACTC 0.597000 10 11 0 0 1 0 0 TLR2 7097 broad.mit.edu 37 4 154624181 154624181 + Missense_Mutation SNP G G T TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr4:154624181G>T ENST00000260010.6 + 1 1530 c.122G>T c.(121-123)gGa>gTa p.G41V NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 41 cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) GGCAGCTCAGGATCTTTAAAC 0.502000 26 44 2.44723e-14 2.69195e-14 1 1 0 FRMPD3 84443 broad.mit.edu 37 X 106840784 106840784 + Nonsense_Mutation SNP C C T TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chrX:106840784C>T ENST00000276185.4 + 15 1774 c.1774C>T c.(1774-1776)Cga>Tga p.R592* Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 592 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 GACCAGGCCCCGAACCAAGTC 0.527000 6 92 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248309019 248309019 + Silent SNP T T C TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr1:248309019T>C ENST00000366476.1 + 1 570 c.570T>C c.(568-570)aaT>aaC p.N190N NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) TCTCATGCAATGACACATCAA 0.413000 12 300 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952072 178952072 + Missense_Mutation SNP A A G TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr3:178952072A>G ENST00000263967.3 + 21 3284 c.3127A>G c.(3127-3129)Atg>Gtg p.M1043V NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1043 PI3K/PI4K. M -> I (in cancer; shows an increase in lipid kinase activity). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.M1043V(22) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CATGAAACAAATGAATGATGC 0.368000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 26 28 0 0 1 0 0 TBC1D15 64786 broad.mit.edu 37 12 72316850 72316850 + Missense_Mutation SNP G G T TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr12:72316850G>T ENST00000550746.1 + 18 2006 c.1942G>T c.(1942-1944)Gtt>Ttt p.V648F TBC1D15_ENST00000393309.3_Missense_Mutation_p.V402F|TBC1D15_ENST00000319106.8_Missense_Mutation_p.V639F|TBC1D15_ENST00000485960.2_Missense_Mutation_p.V631F NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 648 protein binding|Rab GTPase activator activity NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AGACGAAAATGTTGTCATGAC 0.458000 33 52 5.60225e-13 5.96368e-13 1 1 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 4 64 2.56e-06 2.6819e-06 1 1 0 UQCC 0 broad.mit.edu 37 20 33981930 33981930 + Missense_Mutation SNP C C T TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr20:33981930C>T ENST00000397554.1 - 2 104 c.94G>A c.(94-96)Gga>Aga p.G32R UQCC_ENST00000374377.5_Missense_Mutation_p.R12K|UQCC_ENST00000374380.2_Missense_Mutation_p.G32R|UQCC_ENST00000374384.2_Missense_Mutation_p.G32R|UQCC_ENST00000359226.2_Missense_Mutation_p.G32R|UQCC_ENST00000349714.5_Missense_Mutation_p.G32R|UQCC_ENST00000542501.1_Missense_Mutation_p.G32R|UQCC_ENST00000540457.1_Intron|UQCC_ENST00000407996.2_Missense_Mutation_p.G32R|UQCC_ENST00000374385.5_Missense_Mutation_p.G32R|UQCC_ENST00000491125.1_5'UTR|UQCC_ENST00000397556.3_5'UTR Q9NVA1 UQCC_HUMAN 32 cytoplasmic membrane-bounded vesicle breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.00252) TCCCCCTGTCCTTGGGTAGGA 0.423000 34 51 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 118199020 118199020 + Missense_Mutation SNP G G A TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr12:118199020G>A ENST00000425217.1 - 4 749 c.695C>T c.(694-696)cCg>cTg p.P232L KSR2_ENST00000339824.5_Missense_Mutation_p.P261L NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 261 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGTGCGCGGCGGGGTGCGGAC 0.751000 6 116 0 0 1 0 0 SUCLA2 8803 broad.mit.edu 37 13 48528668 48528668 + Missense_Mutation SNP T T A TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr13:48528668T>A ENST00000378654.3 - 7 883 c.827A>T c.(826-828)aAt>aTt p.N276I SUCLA2_ENST00000544100.1_Missense_Mutation_p.N142I|SUCLA2_ENST00000543413.1_Missense_Mutation_p.N218I|SUCLA2_ENST00000534875.1_Missense_Mutation_p.N218I NM_003850.2 NP_003841.1 Q9P2R7 SUCB1_HUMAN succinate-CoA ligase, ADP-forming, beta subunit 276 ATP-grasp. succinyl-CoA pathway|tricarboxylic acid cycle mitochondrial matrix ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4) 15 all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;2.1e-06) Succinic acid(DB00139) AGAGTCAAAATTGATCTTTGC 0.358000 27 32 0 0 1 0 0 GOLGA6C 653641 broad.mit.edu 37 15 75562493 75562493 + Missense_Mutation SNP C C A TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr15:75562493C>A ENST00000300576.5 + 18 2035 c.2035C>A c.(2035-2037)Ccg>Acg p.P679T NM_001164404.1 NP_001157876.1 A6NDK9 GOG6C_HUMAN golgin A6 family, member C 679 ovary(1) 1 TGACAACCCCCCGGTACAGCA 0.602000 6 108 0.00198382 0.00198382 1 1 0 TRMT10A 93587 broad.mit.edu 37 4 100479223 100479223 + Missense_Mutation SNP G G A TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr4:100479223G>A ENST00000273962.3 - 3 643 c.331C>T c.(331-333)Cac>Tac p.H111Y TRMT10A_ENST00000394876.2_Missense_Mutation_p.H111Y|TRMT10A_ENST00000394877.3_Missense_Mutation_p.H111Y NM_152292.4 NP_689505.1 tRNA methyltransferase 10 homolog A (S. cerevisiae) ACCATCAAGTGATCAAAACTA 0.338000 27 20 0 0 1 0 0 MAP3K12 7786 broad.mit.edu 37 12 53876605 53876605 + Missense_Mutation SNP C C T TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr12:53876605C>T ENST00000267079.2 - 12 2108 c.1883G>A c.(1882-1884)gGa>gAa p.G628E MAP3K12_ENST00000547035.1_Missense_Mutation_p.G661E|MAP3K12_ENST00000547488.1_Missense_Mutation_p.G661E NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 628 G -> R (in dbSNP:rs34366500). histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 ATCCCCAGCTCCGCCTGTGGC 0.677000 32 26 0 0 1 0 0 OR2M7 391196 broad.mit.edu 37 1 248487301 248487301 + Silent SNP A A G TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr1:248487301A>G ENST00000317965.2 - 1 598 c.570T>C c.(568-570)aaT>aaC p.N190N NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTGATGTGTCATTGCATGAGA 0.423000 144 189 0 0 1 0 0 AC007040.8 0 broad.mit.edu 37 2 71256879 71256879 + RNA SNP G G A TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr2:71256879G>A ENST00000434990.1 - 0 61 GTGTGGTGGCGTCAGTGACGT 0.547000 6 8 0 0 1 0 0 CCL3 6348 broad.mit.edu 37 17 34416559 34416559 + Missense_Mutation SNP G G A TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr17:34416559G>A ENST00000225245.5 - 2 240 c.158C>T c.(157-159)aCg>aTg p.T53M AC069363.1_ENST00000441575.1_RNA|AC069363.1_ENST00000592728.1_RNA|AC069363.1_ENST00000590992.1_RNA NM_002983.2 NP_002974.1 P10147 CCL3_HUMAN chemokine (C-C motif) ligand 3 53 cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication extracellular space|soluble fraction chemoattractant activity|chemokine activity|signal transducer activity breast(2)|lung(3)|urinary_tract(1) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGGCTGCTCGTCTCAAAGTA 0.572000 51 49 0 0 1 0 0 CD109 135228 broad.mit.edu 37 6 74524749 74524749 + Nonsense_Mutation SNP C C T TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr6:74524749C>T ENST00000437994.2 + 30 4194 c.3763C>T c.(3763-3765)Cga>Tga p.R1255* CD109_ENST00000287097.5_Nonsense_Mutation_p.R1272*|CD109_ENST00000422508.2_Nonsense_Mutation_p.R1195* NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 1272 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TTCTAGAAGACGAAGATCTAT 0.313000 7 59 0 0 1 0 0 ATOH8 84913 broad.mit.edu 37 2 85991301 85991301 + Missense_Mutation SNP G G A TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr2:85991301G>A ENST00000306279.3 + 2 1252 c.956G>A c.(955-957)cGc>cAc p.R319H ATOH8_ENST00000463422.1_3'UTR NM_032827.6 NP_116216.2 Q96SQ7 ATOH8_HUMAN atonal homolog 8 (Drosophila) 319 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(1)|lung(2) 5 GCCAAGAAGCGCAAGGTATGC 0.627000 3 31 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 147743499 147743499 + Missense_Mutation SNP T T C TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chrX:147743499T>C ENST00000370460.2 + 3 730 c.251T>C c.(250-252)tTg>tCg p.L84S AFF2_ENST00000342251.3_Missense_Mutation_p.L80S|AFF2_ENST00000370458.1_Missense_Mutation_p.L80S|AFF2_ENST00000370457.5_Missense_Mutation_p.L80S NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 84 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) ATGAAGAATTTGCTAACTAAC 0.403000 8 237 0 0 1 0 0 SCN7A 6332 broad.mit.edu 37 2 167262859 167262859 + Missense_Mutation SNP A A T TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr2:167262859A>T ENST00000409855.1 - 25 4406 c.4280T>A c.(4279-4281)cTt>cAt p.L1427H NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 1427 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 AACTTGAAAAAGACAGAGCAT 0.358000 57 88 0 0 1 0 0 GOLGA6C 653641 broad.mit.edu 37 15 75562495 75562495 + Silent SNP G G T rs138154232 by1000genomes TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr15:75562495G>T ENST00000300576.5 + 18 2037 c.2037G>T c.(2035-2037)ccG>ccT p.P679P NM_001164404.1 NP_001157876.1 A6NDK9 GOG6C_HUMAN golgin A6 family, member C 679 ovary(1) 1 ACAACCCCCCGGTACAGCAGA 0.602000 6 106 3.59834e-05 3.71078e-05 1 1 0 EIF2S3 1968 broad.mit.edu 37 X 24075552 24075552 + Missense_Mutation SNP G G A TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chrX:24075552G>A ENST00000253039.4 + 3 401 c.148G>A c.(148-150)Gta>Ata p.V50I NM_001415.3 NP_001406.1 P41091 IF2G_HUMAN eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa 50 cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1) 12 AATTGGTCATGTAGCTCATGG 0.313000 30 40 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100489725 100489725 + Missense_Mutation SNP G G A TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr3:100489725G>A ENST00000471714.1 - 61 4685 c.4576C>T c.(4576-4578)Ccc>Tcc p.P1526S ABI3BP_ENST00000383691.4_Missense_Mutation_p.P778S|ABI3BP_ENST00000284322.5_Missense_Mutation_p.P824S Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 824 extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 TCCTCTTTGGGGAACCGTTTG 0.542000 4 79 0 0 1 0 0 FOXK1 221937 broad.mit.edu 37 7 4796757 4796757 + Missense_Mutation SNP C C G TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr7:4796757C>G ENST00000328914.4 + 5 1183 c.1183C>G c.(1183-1185)Cgg>Ggg p.R395G FOXK1_ENST00000446823.1_Missense_Mutation_p.R232G NM_001037165.1 NP_001032242.1 P85037 FOXK1_HUMAN forkhead box K1 395 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|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 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) ACAGGCATTCCGGAAACGGAG 0.577000 50 61 0 0 1 0 0 CXCL6 6372 broad.mit.edu 37 4 74702569 74702569 + Silent SNP C C G TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr4:74702569C>G ENST00000226317.5 + 1 356 c.102C>G c.(100-102)ctC>ctG p.L34L CXCL6_ENST00000515050.1_Silent_p.L34L NM_002993.3 NP_002984.1 P80162 CXCL6_HUMAN chemokine (C-X-C motif) ligand 6 34 cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding large_intestine(1)|lung(7) 8 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) CGGGGCCCCTCGCCAGCGGTG 0.701000 19 14 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62196763 62196763 + Missense_Mutation SNP T T A TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr20:62196763T>A ENST00000467148.1 - 8 3481 c.3412A>T c.(3412-3414)Acc>Tcc p.T1138S HELZ2_ENST00000427522.2_Missense_Mutation_p.T569S NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CGCTCGAAGGTCTCTGGCACG 0.701000 11 11 0 0 1 0 0 CROCCP3 0 broad.mit.edu 37 1 16810895 16810896 + RNA INS - - GGAGTCATCC TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr1:16810895_16810896insGGAGTCATCC ENST00000263511.4 - 0 1635_1636 NR_023386.1 AGGCTGCCGAAGGAGTCATCCG 0.743 3 5 --- --- --- --- ZCWPW2 152098 broad.mit.edu 37 3 28555576 28555577 + Frame_Shift_Ins INS - - C TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr3:28555576_28555577insC ENST00000383768.2 + 7 867_868 c.679_680insC c.(679-681)tgafs p.*227fs ZCWPW2_ENST00000421010.1_Frame_Shift_Ins_p.*227fs Q504Y3 ZCPW2_HUMAN zinc finger, CW type with PWWP domain 2 227 zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2) 17 TAAAAATAATATTGAAAAGAAG 0.257 17 29 --- --- --- --- RP11-324C10.1 0 broad.mit.edu 37 3 172992494 172992494 + RNA DEL C C - rs79222726 TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr3:172992494delC ENST00000447709.1 + 0 216 aacaaacaaacaaaaacatgt 0.512 9 6 --- --- --- --- FIP1L1 81608 broad.mit.edu 37 4 54319248 54319249 + Frame_Shift_Del DEL AG AG - TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr4:54319248_54319249delAG ENST00000337488.6 + 16 1641_1642 c.1447_1448delAG c.(1447-1449)afs p.R483fs FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs NM_030917.3 NP_112179.2 Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 483 Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3. mRNA processing nucleus RNA binding p.R487fs*3(2) large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) agaACGCACCAGAGAGAGAGAG 0.470 T PDGFRA idiopathic hypereosinophilic syndrome 7 56 --- --- --- --- SNRNP48 154007 broad.mit.edu 37 6 7594048 7594048 + Frame_Shift_Del DEL T T - TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr6:7594048delT ENST00000342415.5 + 2 297 c.238delT c.(238-240)tgfs p.L80fs NM_152551.3 NP_689764.3 Q6IEG0 SNR48_HUMAN small nuclear ribonucleoprotein 48kDa (U11/U12) 80 mRNA processing cytoplasm|U12-type spliceosomal complex metal ion binding kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 ATCTTGTAGATTGAGGAAAAT 0.308 43 56 --- --- --- --- PTPN12 0 broad.mit.edu 37 7 77256691 77256692 + Frame_Shift_Del DEL TG TG - TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr7:77256691_77256692delTG ENST00000248594.6 + 13 1967_1968 c.1695_1696delTG c.(1693-1698)actgfs p.TV565fs PTPN12_ENST00000415482.2_Frame_Shift_Del_p.TV446fs|PTPN12_ENST00000435495.2_Frame_Shift_Del_p.TV435fs NM_002835.3 NP_002826.3 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 12 565 soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 39 CTAGGAAAACTGTGAGTTTAAC 0.396 8 122 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149483379 149483379 + RNA DEL C C - TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr7:149483379delC ENST00000378016.2 + 0 3379 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GTTGAACTCACCCCAACTTCT 0.617 2 4 --- --- --- --- PCSK5 5125 broad.mit.edu 37 9 78790207 78790208 + Frame_Shift_Ins INS - - GAATA rs55947300 TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr9:78790207_78790208insGAATA ENST00000376767.3 + 14 2574_2575 c.2062_2063insGAATA c.(2062-2064)aatfs p.N688fs PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 cgaatcgaatcgaatagaatag 0.342 4 7 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651199 1651200 + In_Frame_Ins INS - - GGCTGTGGCTCC rs71025763 TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr11:1651199_1651200insGGCTGTGGCTCC ENST00000399676.2 + 1 167_168 c.129_130insGGCTGTGGCTCC c.(127-132)gggctg>ggGGCTGTGGCTCCgctg p.43_44GL>GAVAPL NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 43 G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ccggctgtggaggctgtggggg 0.713 42 27 --- --- --- --- EP400 57634 broad.mit.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG rs113304321 by1000genomes TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr12:132547093_132547094insCAG ENST00000333577.4 + 48 8398_8399 c.8289_8290insCAG c.(8287-8292)caagca>caCAGagca p.2763_2763Q>HR EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagca 0.564 16 35 --- --- --- --- IGHV3-11 0 broad.mit.edu 37 14 106573362 106573364 + RNA DEL ACC ACC - rs2003432 by1000genomes TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr14:106573362_106573364delACC ENST00000390601.2 - 0 339_341 ATATGGTACTACCACTACTACTA 0.522 7 510 --- --- --- --- TCF12 6938 broad.mit.edu 37 15 57545486 57545487 + Frame_Shift_Ins INS - - ATCT TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr15:57545486_57545487insATCT ENST00000267811.5 + 15 1519_1520 c.1215_1216insATCT c.(1213-1218)gagactfs p.T406fs TCF12_ENST00000537840.1_Frame_Shift_Ins_p.T170fs|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.T236fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.T430fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000559703.1_Frame_Shift_Ins_p.T64fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.T430fs|TCF12_ENST00000559710.1_Frame_Shift_Ins_p.T40fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.T406fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.T260fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.T426fs NM_003205.3|NM_207038.1 NP_003196.1|NP_996921.1 Q99081 HTF4_HUMAN transcription factor 12 406 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) ATCGTTTAGACAGACTGGATGA 0.441 T TEC extraskeletal myxoid chondrosarcoma 24 44 --- --- --- --- KDM6B 23135 broad.mit.edu 37 17 7751762 7751763 + Frame_Shift_Ins INS - - G TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr17:7751762_7751763insG ENST00000254846.5 + 11 2545_2546 c.2156_2157insG c.(2155-2157)ggcfs p.G719fs KDM6B_ENST00000448097.2_Frame_Shift_Ins_p.G719fs NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 719 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 GAAGCAGGCGTGGCCCCCCAAC 0.584 10 102 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f 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 93 38 --- --- --- --- MYO5B 4645 broad.mit.edu 37 18 47455945 47455945 + Frame_Shift_Del DEL T T - TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr18:47455945delT ENST00000285039.7 - 17 2326 c.2027delA c.(2026-2028)cgfs p.Q677fs NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 677 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TCTGAGTTGCTGCACTGCTCT 0.493 8 14 --- --- --- --- CYP4F8 11283 broad.mit.edu 37 19 15733290 15733293 + RNA DEL GAGA GAGA - TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr19:15733290_15733293delGAGA ENST00000441682.2 + 0 708 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 aggagagaaggagagagagagaga 0.515 5 2 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36696948 36696950 + In_Frame_Del DEL CTC CTC - TCGA-DU-5870-02A-12D-A36O-08 TCGA-DU-5870-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6c817e3c-a1ee-48a2-a8a9-85b0cf894b1b 8ecfbf90-3948-4e91-9eae-d052e56fdb4f g.chr22:36696948_36696950delCTC ENST00000216181.5 - 22 3015_3017 c.2785_2787delGAG c.(2785-2787)del p.E929del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 929 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCTGGCAGCGCTCCTCCTCCTCC 0.665 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 7 87 --- --- --- ---