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 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 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 4 34 0 0 0.014758 0 0 KIAA0754 643314 broad.mit.edu 37 1 39878082 39878082 + Silent SNP T T C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:39878082T>C ENST00000530275.1 + 1 1932 c.1737T>C c.(1735-1737)tgT>tgC p.C579C MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 579 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGAAAGTTTGTGATGAGGATG 0.423000 6 38 0 0 0.021553 0 0 FBLN1 2192 broad.mit.edu 37 22 45929029 45929029 + Missense_Mutation SNP G G C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr22:45929029G>C ENST00000348697.2 + 6 778 c.631G>C c.(631-633)Ggt>Cgt p.G211R FBLN1_ENST00000402984.3_Missense_Mutation_p.G249R|FBLN1_ENST00000442170.2_Missense_Mutation_p.G211R|FBLN1_ENST00000262722.7_Missense_Mutation_p.G211R|FBLN1_ENST00000340923.5_Missense_Mutation_p.G211R|FBLN1_ENST00000327858.6_Missense_Mutation_p.G211R P23142 FBLN1_HUMAN fibulin 1 211 EGF-like 1. interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GCTGTCTGATGGTGTCTCCTG 0.637000 8 35 0 0 0.038147 0 0 KLHL4 56062 broad.mit.edu 37 X 86877396 86877396 + Nonsense_Mutation SNP C C A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chrX:86877396C>A ENST00000373119.4 + 5 1255 c.1110C>A c.(1108-1110)taC>taA p.Y370* KLHL4_ENST00000373114.4_Nonsense_Mutation_p.Y370* NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 370 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 TGCTTTCTTACATCAGACTGC 0.413000 10 34 0.00010058 0.000106923 0.093190 1 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 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 3 44 0 0 0.009096 0 0 ELN 2006 broad.mit.edu 37 7 73474268 73474268 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr7:73474268C>T ENST00000252034.7 + 23 1866 c.1467C>T c.(1465-1467)gtC>gtT p.V489V ELN_ENST00000380562.4_Silent_p.V495V|ELN_ENST00000380575.4_Silent_p.V460V|ELN_ENST00000458204.1_Silent_p.V479V|ELN_ENST00000445912.1_Silent_p.V489V|ELN_ENST00000380576.5_Silent_p.V470V|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Silent_p.V475V|ELN_ENST00000414324.1_Silent_p.V465V|ELN_ENST00000380553.4_Silent_p.V353V|ELN_ENST00000380584.4_Silent_p.V456V|ELN_ENST00000358929.4_Silent_p.V524V|ELN_ENST00000357036.5_Silent_p.V494V|ELN_ENST00000320399.6_Silent_p.V489V|ELN_ENST00000320492.7_Silent_p.V408V NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 518 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) CTCCTGGTGTCGGTGTGGCTC 0.602000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 15 174 0 0 0.041601 0 0 SI 6476 broad.mit.edu 37 3 164725717 164725717 + Missense_Mutation SNP A A G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr3:164725717A>G ENST00000264382.3 - 36 4311 c.4249T>C c.(4249-4251)Tat>Cat p.Y1417H NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1417 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TAAGGTGGATAATTTAGTTCG 0.264000 HNSCC(35;0.089) 8 75 0 0 0.069234 0 0 FMN2 56776 broad.mit.edu 37 1 240492666 240492666 + Silent SNP C C A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:240492666C>A ENST00000319653.9 + 10 4565 c.4335C>A c.(4333-4335)ccC>ccA p.P1445P FMN2_ENST00000545751.1_Silent_p.P41P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1445 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CACTAATCCCCAACTTTTCAG 0.363000 11 87 0.000673444 0.000709521 0.069234 1 0 SOGA3 387104 broad.mit.edu 37 6 127796911 127796911 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr6:127796911C>T ENST00000556132.1 - 6 3124 c.2260G>A c.(2260-2262)Gag>Aag p.E754K SOGA3_ENST00000465909.2_Missense_Mutation_p.E754K|SOGA3_ENST00000481848.2_Missense_Mutation_p.E754K|SOGA3_ENST00000368268.2_Missense_Mutation_p.E754K|SOGA3_ENST00000525778.1_Missense_Mutation_p.E754K NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 754 integral to membrane GCGTCGCTCTCGGCGTCGCTG 0.701000 11 83 0 0 0.093190 0 0 SETD9 133383 broad.mit.edu 37 5 56207180 56207180 + Missense_Mutation SNP C C A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr5:56207180C>A ENST00000285947.2 + 2 669 c.283C>A c.(283-285)Caa>Aaa p.Q95K SETD9_ENST00000541720.1_Missense_Mutation_p.Q95K|SETD9_ENST00000475908.1_3'UTR NM_153706.3 NP_714917.2 Q8NE22 CE035_HUMAN SET domain containing 9 95 AGTTGAACATCAAGGGGTGAA 0.363000 22 20 3.10358e-05 3.3293e-05 0.069288 1 0 MUC17 140453 broad.mit.edu 37 7 100678877 100678877 + Nonsense_Mutation SNP G G T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr7:100678877G>T ENST00000306151.4 + 3 4244 c.4180G>T c.(4180-4182)Gga>Tga p.G1394* NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1394 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCCTAGTGAAGGAACCACTCC 0.507000 91 272 4.21773e-46 4.83197e-46 0.048971 1 0 CGNL1 84952 broad.mit.edu 37 15 57730854 57730854 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr15:57730854C>T ENST00000281282.5 + 2 735 c.657C>T c.(655-657)tgC>tgT p.C219C NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 219 Head. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) TTCGTTTATGCAGCTCCGTGG 0.527000 18 128 0 0 0.049695 0 0 NFRKB 4798 broad.mit.edu 37 11 129748208 129748208 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr11:129748208G>A ENST00000446488.3 - 14 1610 c.1507C>T c.(1507-1509)Cgg>Tgg p.R503W NFRKB_ENST00000524794.1_Missense_Mutation_p.R528W|NFRKB_ENST00000524746.1_Missense_Mutation_p.R503W|NFRKB_ENST00000304521.5_Missense_Mutation_p.R503W NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 503 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) ACTCACACCCGAGGGACAGGT 0.433000 19 20 0 0 0.062417 0 0 ACTL6B 51412 broad.mit.edu 37 7 100246281 100246281 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr7:100246281G>A ENST00000160382.5 - 7 673 c.567C>T c.(565-567)atC>atT p.I189I NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B 189 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GGGACTTGACGATGCCTAGAA 0.597000 9 13 0 0 0.058154 0 0 TP53 7157 broad.mit.edu 37 17 7574012 7574012 + Nonsense_Mutation SNP C C A rs17882252 TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr17:7574012C>A ENST00000269305.4 - 10 1204 c.1015G>T c.(1015-1017)Gag>Tag p.E339* TP53_ENST00000445888.2_Nonsense_Mutation_p.E339*|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 339 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. E -> K (in a sporadic cancer; somatic mutation; dbSNP:rs17882252).|E -> Q (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E339*(14)|p.0?(8)|p.E339fs*8(2)|p.E339Q(1)|p.?(1)|p.F338fs*6(1)|p.F338_E339>L(1)|p.E339fs*13(1)|p.I332fs*5(1)|p.E339K(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGAACATCTCGAAGCGCTCA 0.537000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 5 10 0.014758 0.015411 0.014758 1 0 RSBN1 54665 broad.mit.edu 37 1 114354936 114354936 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:114354936C>T ENST00000261441.5 - 1 162 c.99G>A c.(97-99)gcG>gcA p.A33A NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 33 nucleus breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCCCCCCGTCCGCGCATCGCG 0.672000 4 53 0 0 0.014758 0 0 ZNF423 23090 broad.mit.edu 37 16 49672378 49672378 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr16:49672378G>A ENST00000561648.1 - 4 738 c.685C>T c.(685-687)Cgc>Tgc p.R229C ZNF423_ENST00000563137.2_Missense_Mutation_p.R169C|ZNF423_ENST00000535559.1_Missense_Mutation_p.R112C|ZNF423_ENST00000562520.1_Missense_Mutation_p.R169C|ZNF423_ENST00000567169.1_Missense_Mutation_p.R112C|ZNF423_ENST00000562871.1_Missense_Mutation_p.R169C|ZNF423_ENST00000262383.2_Missense_Mutation_p.R229C NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 229 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GAGAAGCCGCGCTTGCACACA 0.597000 6 46 0 0 0.021553 0 0 CHST15 51363 broad.mit.edu 37 10 125804104 125804104 + Missense_Mutation SNP T T C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr10:125804104T>C ENST00000346248.5 - 3 1520 c.878A>G c.(877-879)aAg>aGg p.K293R CHST15_ENST00000421115.1_Missense_Mutation_p.K293R|CHST15_ENST00000435907.1_Missense_Mutation_p.K293R NM_001270764.1|NM_015892.3 NP_001257693.1|NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 293 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 ACCAAAGCGCTTCCGGGTCCA 0.637000 7 12 0 0 0.029380 0 0 PIPSL 266971 broad.mit.edu 37 10 95718642 95718642 + RNA SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr10:95718642G>A ENST00000480546.1 - 0 2655 NR_002319.2 ACAGCATTTCGAATGGCTTCA 0.537000 9 36 0 0 0.047766 0 0 SLC34A1 6569 broad.mit.edu 37 5 176824887 176824887 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr5:176824887G>A ENST00000324417.5 + 13 1611 c.1520G>A c.(1519-1521)cGc>cAc p.R507H SLC34A1_ENST00000513614.1_3'UTR NM_003052.4 NP_003043.3 Q06495 NPT2A_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 1 507 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGGGGAAACGCACGGCCAAG 0.607000 16 63 0 0 0.033300 0 0 ZC3H3 23144 broad.mit.edu 37 8 144589967 144589967 + Missense_Mutation SNP G G C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr8:144589967G>C ENST00000262577.5 - 4 1695 c.1664C>G c.(1663-1665)cCc>cGc p.P555R NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 555 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CAGGGGGAAGGGCGGGGCGCT 0.667000 32 45 0 0 0.045705 0 0 NID1 4811 broad.mit.edu 37 1 236180536 236180536 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:236180536C>T ENST00000264187.6 - 10 2248 c.2166G>A c.(2164-2166)ggG>ggA p.G722G NID1_ENST00000366595.3_Intron NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 722 EGF-like 3; calcium-binding (Potential). cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) TTGTGTGGCTCCCACACACTG 0.433000 18 93 0 0 0.043863 0 0 EVI5 7813 broad.mit.edu 37 1 93167729 93167729 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:93167729C>T ENST00000370331.1 - 5 749 c.740G>A c.(739-741)aGt>aAt p.S247N EVI5_ENST00000540033.1_Missense_Mutation_p.S247N|EVI5_ENST00000543509.1_Missense_Mutation_p.S247N NM_005665.4 NP_005656.4 O60447 EVI5_HUMAN ecotropic viral integration site 5 247 Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1) 38 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) TATAAAAGCACTTCCTTGACA 0.308000 8 34 0 0 0.058154 0 0 SCN2A 6326 broad.mit.edu 37 2 166152455 166152455 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr2:166152455G>A ENST00000375437.2 + 2 412 c.122G>A c.(121-123)cGc>cAc p.R41H SCN2A_ENST00000283256.6_Missense_Mutation_p.R41H|SCN2A_ENST00000375427.2_Missense_Mutation_p.R41H|SCN2A_ENST00000357398.3_Missense_Mutation_p.R41H NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 41 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) AAACAGGAACGCAAGGATGAG 0.473000 9 19 0 0 0.069234 0 0 UBL7 84993 broad.mit.edu 37 15 74740855 74740855 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr15:74740855C>T ENST00000567435.1 - 10 1432 c.969G>A c.(967-969)caG>caA p.Q323Q UBL7_ENST00000395081.2_Silent_p.Q323Q|UBL7_ENST00000361351.4_Silent_p.Q323Q|UBL7_ENST00000564488.1_Silent_p.Q323Q|UBL7_ENST00000565335.1_Silent_p.Q323Q Q96S82 UBL7_HUMAN ubiquitin-like 7 (bone marrow stromal cell-derived) 323 protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 GAAGGGCATGCTGTAGGGCTT 0.542000 23 106 0 0 0.062417 0 0 DGKK 139189 broad.mit.edu 37 X 50119144 50119144 + RNA SNP A A T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chrX:50119144A>T ENST00000376025.2 - 0 3351 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) ATGCTGGTGGATCTTGCTCAG 0.478000 6 4 0 0 0.029380 0 0 PHLDA2 7262 broad.mit.edu 37 11 2950579 2950579 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr11:2950579C>T ENST00000314222.4 - 1 106 c.16G>A c.(16-18)Gag>Aag p.E6K NM_003311.3 NP_003302.1 Q53GA4 PHLA2_HUMAN pleckstrin homology-like domain, family A, member 2 6 apoptosis cytoplasm|membrane central_nervous_system(1) 1 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19) CGTAGCACCTCGTCGGGGGAT 0.677000 10 8 0 0 0.069234 0 0 PKD1 5310 broad.mit.edu 37 16 2158547 2158547 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr16:2158547G>A ENST00000262304.4 - 15 6829 c.6621C>T c.(6619-6621)ccC>ccT p.P2207P PKD1_ENST00000423118.1_Silent_p.P2207P NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 2207 REJ. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CGTCCACGCCGGGCAGGGCCA 0.697000 4 11 0 0 0.009096 0 0 RBBP7 5931 broad.mit.edu 37 X 16887237 16887237 + Missense_Mutation SNP C C G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chrX:16887237C>G ENST00000380087.2 - 2 483 c.123G>C c.(121-123)tgG>tgC p.W41C RBBP7_ENST00000380084.4_Missense_Mutation_p.W85C|RBBP7_ENST00000404022.1_Missense_Mutation_p.W41C Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 41 cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex|NuRD complex protein binding biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 25 Hepatocellular(33;0.0997) TAAGACTGGGCCACTGAAGAG 0.393000 10 27 0 0 0.069234 0 0 LILRA1 11024 broad.mit.edu 37 19 55106360 55106360 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr19:55106360G>A ENST00000453777.1 + 4 471 c.301G>A c.(301-303)Ggt>Agt p.G101S LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.G101S|LILRA1_ENST00000473156.1_3'UTR NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 101 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) CTGTTTCTACGGTAGCCACAC 0.607000 11 52 0 0 0.069234 0 0 CECR5 27440 broad.mit.edu 37 22 17619607 17619607 + Silent SNP C C A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr22:17619607C>A ENST00000336737.4 - 7 793 c.768G>T c.(766-768)ctG>ctT p.L256L CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Silent_p.L226L NM_033070.2 NP_149061.1 Q9BXW7 CECR5_HUMAN cat eye syndrome chromosome region, candidate 5 256 hydrolase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1) 21 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) CCAGGCACAGCAGAAAGGTGC 0.537000 13 121 9.31168e-06 1.0269e-05 0.105934 1 0 ABCA4 24 broad.mit.edu 37 1 94496611 94496611 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:94496611G>A ENST00000370225.3 - 28 4280 c.4194C>T c.(4192-4194)ggC>ggT p.G1398G NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1398 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CGGGGTATTCGCCAAAAGGAG 0.512000 6 23 0 0 0.021553 0 0 ATP8A1 10396 broad.mit.edu 37 4 42551058 42551058 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr4:42551058C>T ENST00000381668.5 - 19 1855 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K ATP8A1_ENST00000264449.10_Missense_Mutation_p.E527K NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 542 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) TTGAGCAATTCATATCTTTCT 0.308000 9 40 0 0 0.047766 0 0 CORO2B 10391 broad.mit.edu 37 15 69003203 69003203 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr15:69003203G>A ENST00000543950.1 + 4 805 c.451G>A c.(451-453)Gct>Act p.A151T CORO2B_ENST00000540068.1_Missense_Mutation_p.A151T|CORO2B_ENST00000566799.1_Missense_Mutation_p.A156T|CORO2B_ENST00000261861.5_Missense_Mutation_p.A151T NM_001190457.1 NP_001177386.1 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 156 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 CCTGTTCAGCGCTGGCTACGA 0.622000 3 5 0 0 0.004672 0 0 LINC00207 388910 broad.mit.edu 37 22 44967270 44967270 + RNA SNP C C T rs144250545 by1000genomes TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr22:44967270C>T ENST00000605505.1 + 0 261 NR_028409.1 lung(3) 3 acccactttacggatgaggaa 0.567000 3 12 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179606565 179606565 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr2:179606565C>T ENST00000589042.1 - 48 11619 c.11395G>A c.(11395-11397)Gaa>Aaa p.E3799K TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E3482K|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E3561K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3436K|TTN_ENST00000342175.6_Missense_Mutation_p.E3628K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3482 S -> Y (in CMD1G). ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E3436K(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GACAAAAGTTCAAGTGTTTCA 0.373000 4 12 0 0 0.009096 0 0 CNN1 1264 broad.mit.edu 37 19 11651894 11651894 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr19:11651894G>A ENST00000252456.2 + 2 278 c.67G>A c.(67-69)Gcc>Acc p.A23T CNN1_ENST00000592923.1_5'UTR|CNN1_ENST00000544952.1_Missense_Mutation_p.A3T|CNN1_ENST00000588468.1_3'UTR|CNN1_ENST00000535659.2_5'UTR NM_001299.4 NP_001290.2 P51911 CNN1_HUMAN calponin 1, basic, smooth muscle 23 actomyosin structure organization|regulation of smooth muscle contraction cytoskeleton actin binding|calmodulin binding breast(1)|endometrium(2)|large_intestine(4)|lung(2) 9 GCCCCAGCTGGCCCAGAAGTA 0.632000 3 14 0 0 0.004672 0 0 MS4A14 84689 broad.mit.edu 37 11 60170536 60170536 + Splice_Site SNP T T C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr11:60170536T>C ENST00000300187.6 + 4 745 c.e4+2 MS4A14_ENST00000531783.1_Splice_Site|MS4A14_ENST00000531787.1_Splice_Site|MS4A14_ENST00000395005.2_Splice_Site|MS4A14_ENST00000395001.1_Splice_Site NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 CTTTTCATTGTAAGTGGTCTT 0.343000 21 57 0 0 0.049695 0 0 VPS36 51028 broad.mit.edu 37 13 53007799 53007799 + Missense_Mutation SNP C C T rs35567300 TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr13:53007799C>T ENST00000378060.4 - 6 553 c.526G>A c.(526-528)Gag>Aag p.E176K NM_016075.2 NP_057159.2 Q86VN1 VPS36_HUMAN vacuolar protein sorting 36 homolog (S. cerevisiae) 176 cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|late endosome|membrane|nucleus lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.14e-08) ACAGTTACCTCAGAAATGTTT 0.343000 3 41 0 0 0.009096 0 0 PADI6 353238 broad.mit.edu 37 1 17727771 17727771 + RNA SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:17727771G>A ENST00000434762.2 + 0 1973 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) AAGGGGACCTGCTGCCTGGAA 0.537000 4 38 0 0 0.014758 0 0 IMMP2L 83943 broad.mit.edu 37 7 110303748 110303748 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr7:110303748G>A ENST00000405709.2 - 6 880 c.438C>T c.(436-438)gcC>gcT p.A146A IMMP2L_ENST00000450877.1_Silent_p.A128A|IMMP2L_ENST00000415362.1_Silent_p.A146A|IMMP2L_ENST00000331762.3_Silent_p.A146A|IMMP2L_ENST00000489381.1_5'UTR|IMMP2L_ENST00000452895.1_Silent_p.A146A NM_032549.3 NP_115938.1 Q96T52 IMP2L_HUMAN IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) 146 protein processing involved in protein targeting to mitochondrion|proteolysis integral to membrane|mitochondrial inner membrane peptidase complex|nucleus serine-type peptidase activity endometrium(3)|large_intestine(6)|lung(5) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173) GGATATGTGTGGCATGGGCAT 0.418000 6 48 0 0 0.029380 0 0 ERAP1 51752 broad.mit.edu 37 5 96121595 96121595 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr5:96121595C>T ENST00000296754.3 - 13 2097 c.1840G>A c.(1840-1842)Gat>Aat p.D614N CTD-2260A17.1_ENST00000602972.1_RNA|ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000512856.1_RNA|ERAP1_ENST00000443439.2_Missense_Mutation_p.D614N NM_016442.3 NP_057526.3 Q9NZ08 ERAP1_HUMAN endoplasmic reticulum aminopeptidase 1 614 angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2) 19 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) CATCCATCATCCTCGTAATGC 0.413000 4 49 0 0 0.009096 0 0 TUB 7275 broad.mit.edu 37 11 8123160 8123160 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr11:8123160C>T ENST00000305253.4 + 13 1921 c.1680C>T c.(1678-1680)tgC>tgT p.C560C TUB_ENST00000299506.2_Silent_p.C505C|TUB_ENST00000534099.1_Silent_p.C511C NM_003320.4 NP_003311.2 P50607 TUB_HUMAN tubby bipartite transcription factor 505 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) AGCTGGCGTGCGAGTAGAGGC 0.597000 15 8 0 0 0.020292 0 0 CLASRP 11129 broad.mit.edu 37 19 45555410 45555410 + Missense_Mutation SNP G G C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr19:45555410G>C ENST00000544944.2 + 2 873 c.181G>C c.(181-183)Gag>Cag p.E61Q CLASRP_ENST00000221455.3_Missense_Mutation_p.E61Q|CLASRP_ENST00000391953.4_Intron Q8N2M8 CLASR_HUMAN CLK4-associating serine/arginine rich protein 61 mRNA processing|RNA splicing nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1) 16 CCTGGCCGCTGAGAGCCCTGT 0.562000 4 49 0 0 0.009096 0 0 TRA2B 6434 broad.mit.edu 37 3 185644425 185644425 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr3:185644425C>T ENST00000453386.2 - 2 409 c.134G>A c.(133-135)cGt>cAt p.R45H TRA2B_ENST00000382191.4_Intron NM_004593.2 NP_004584.1 P62995 TRA2B_HUMAN transformer 2 beta homolog (Drosophila) 45 Arg/Ser-rich (RS1 domain). nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|protein binding|RNA binding breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 18 TGATCTGGAACGCCTGGAATC 0.488000 28 61 0 0 0.034045 0 0 SLC17A5 26503 broad.mit.edu 37 6 74331548 74331548 + Silent SNP G G A rs147732875 TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr6:74331548G>A ENST00000355773.5 - 7 1225 c.957C>T c.(955-957)atC>atT p.I319I SLC17A5_ENST00000393019.3_3'UTR NM_012434.4 NP_036566.1 Q9NRA2 S17A5_HUMAN solute carrier family 17 (acidic sugar transporter), member 5 319 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TGAACCTTAGGATCTCCTTCA 0.313000 9 21 0 0 0.047766 0 0 CSF1 1435 broad.mit.edu 37 1 110456910 110456910 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:110456910C>T ENST00000329608.6 + 2 460 c.69C>T c.(67-69)gtC>gtT p.V23V CSF1_ENST00000369801.1_Silent_p.V23V|CSF1_ENST00000369802.3_Silent_p.V23V|CSF1_ENST00000344188.5_Silent_p.V23V|CSF1_ENST00000420111.2_Silent_p.V23V NM_000757.5|NM_172211.3 NP_000748.3|NP_757350.1 P09603 CSF1_HUMAN colony stimulating factor 1 (macrophage) 23 cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) TGTTGTTGGTCTGTCTCCTGG 0.587000 16 29 0 0 0.024245 0 0 CCDC170 80129 broad.mit.edu 37 6 151857487 151857487 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr6:151857487C>T ENST00000367290.5 + 2 181 c.92C>T c.(91-93)aCg>aTg p.T31M CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000239374.7_Missense_Mutation_p.T31M Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 31 p.T31M(1) GTCCCGGTCACGCGGGAGCAG 0.433000 5 57 0 0 0.021553 0 0 ISLR2 57611 broad.mit.edu 37 15 74426761 74426761 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr15:74426761C>T ENST00000361742.3 + 4 2435 c.1666C>T c.(1666-1668)Cgc>Tgc p.R556C ISLR2_ENST00000565159.1_Missense_Mutation_p.R556C|ISLR2_ENST00000565540.1_Missense_Mutation_p.R556C|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.R556C|ISLR2_ENST00000445793.1_Missense_Mutation_p.R556C|ISLR2_ENST00000435464.1_Missense_Mutation_p.R556C|ISLR2_ENST00000419208.1_Missense_Mutation_p.R556C NM_001130136.1|NM_020851.2 NP_001123608.1|NP_065902.1 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing leucine-rich repeat 2 556 positive regulation of axon extension cell surface|integral to membrane|plasma membrane breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 CTACTGGTTCCGCGGCCTGCG 0.682000 4 9 0 0 0.009096 0 0 UPF2 26019 broad.mit.edu 37 10 11973704 11973704 + Missense_Mutation SNP C C G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr10:11973704C>G ENST00000356352.2 - 19 4097 c.3624G>C c.(3622-3624)gaG>gaC p.E1208D UPF2_ENST00000357604.5_Missense_Mutation_p.E1208D|UPF2_ENST00000397053.2_Missense_Mutation_p.E1208D Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 1208 Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) TTCTCATCCTCTCTTCTTGTT 0.373000 10 58 0 0 0.080935 0 0 BRINP3 339479 broad.mit.edu 37 1 190203579 190203579 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:190203579C>T ENST00000367462.3 - 5 878 c.647G>A c.(646-648)gGc>gAc p.G216D FAM5C_ENST00000534846.1_Missense_Mutation_p.G114D|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 216 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GTTACTGCAGCCAAGAGGACC 0.378000 9 51 0 0 0.069234 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112900135 112900135 + Missense_Mutation SNP G G A rs142423891 TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr9:112900135G>A ENST00000374530.3 + 8 2491 c.2311G>A c.(2311-2313)Gtc>Atc p.V771I AKAP2_ENST00000259318.7_Missense_Mutation_p.V540I|AKAP2_ENST00000374525.1_Missense_Mutation_p.V629I|AKAP2_ENST00000555236.1_Missense_Mutation_p.V771I|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.V771I|AKAP2_ENST00000434623.2_Missense_Mutation_p.V629I|AKAP2_ENST00000510514.5_Missense_Mutation_p.V771I NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 540 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 AGGAGAAGGCGTCTCCAAGTC 0.532000 5 46 0 0 0.014758 0 0 RBBP7 5931 broad.mit.edu 37 X 16887232 16887232 + Missense_Mutation SNP C C A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chrX:16887232C>A ENST00000380087.2 - 2 488 c.128G>T c.(127-129)aGt>aTt p.S43I RBBP7_ENST00000380084.4_Missense_Mutation_p.S87I|RBBP7_ENST00000404022.1_Missense_Mutation_p.S43I Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 43 cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex|NuRD complex protein binding biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 25 Hepatocellular(33;0.0997) AACGGTAAGACTGGGCCACTG 0.403000 8 28 1.12685e-05 1.23119e-05 0.047766 1 0 DPPA4 55211 broad.mit.edu 37 3 109049479 109049479 + Missense_Mutation SNP T T G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr3:109049479T>G ENST00000335658.6 - 5 625 c.571A>C c.(571-573)Aca>Cca p.T191P DPPA4_ENST00000478791.1_5'UTR NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 191 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 ACCACAACTGTATTAACTCCC 0.562000 43 35 0 0 0.039052 0 0 GLO1 2739 broad.mit.edu 37 6 38670758 38670758 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr6:38670758G>A ENST00000373365.4 - 1 159 c.73C>T c.(73-75)Ccc>Tcc p.P25S NM_006708.2 NP_006699.2 Q04760 LGUL_HUMAN glyoxalase I 25 anti-apoptosis|carbohydrate metabolic process cytoplasm lactoylglutathione lyase activity|metal ion binding lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 6 Glutathione(DB00143) TTGGTACTGGGGTCCGCGTCG 0.711000 3 23 0 0 0.009096 0 0 TRIM36 55521 broad.mit.edu 37 5 114499269 114499269 + Missense_Mutation SNP G G C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr5:114499269G>C ENST00000513154.1 - 2 534 c.208C>G c.(208-210)Cga>Gga p.R70G TRIM36_ENST00000282369.3_Missense_Mutation_p.R82G|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000515104.1_5'UTR Q9NQ86 TRI36_HUMAN tripartite motif containing 36 82 acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) AGCCGAAGTCGAGGACTGCTT 0.453000 5 49 0 0 0.021553 0 0 CTNNA2 1496 broad.mit.edu 37 2 80646578 80646578 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr2:80646578G>A ENST00000466387.1 + 13 1866 c.1142G>A c.(1141-1143)cGg>cAg p.R381Q CTNNA2_ENST00000343114.3_Missense_Mutation_p.R60Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R415Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R381Q P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 381 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CTGTAGCTTCGGAAAGCAGTG 0.358000 8 51 0 0 0.038147 0 0 ZNF516 9658 broad.mit.edu 37 18 74154962 74154962 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr18:74154962G>A ENST00000443185.2 - 3 366 c.49C>T c.(49-51)Ccc>Tcc p.P17S ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 17 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) GCCCTGGTGGGGCTGGGGCCT 0.692000 7 4 0 0 0.047766 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41752804 41752804 + Silent SNP C C G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr22:41752804C>G ENST00000352645.4 + 22 2930 c.2673C>G c.(2671-2673)ctC>ctG p.L891L ZC3H7B_ENST00000351589.4_Silent_p.L891L NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 907 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 AGTTCCGGCTCTGCGACAGGT 0.667000 7 39 0 0 0.029380 0 0 CHRM3 1131 broad.mit.edu 37 1 240071198 240071198 + Nonsense_Mutation SNP C C A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:240071198C>A ENST00000255380.4 + 5 1226 c.447C>A c.(445-447)taC>taA p.Y149* NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 149 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CCATTGACTACGTAGCCAGCA 0.473000 27 34 9.86323e-18 1.1191e-17 0.091800 1 0 C9orf170 401535 broad.mit.edu 37 9 89771559 89771559 + Silent SNP T T C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr9:89771559T>C ENST00000375941.2 + 2 327 c.240T>C c.(238-240)tcT>tcC p.S80S NM_001001709.2 NP_001001709.1 A2RU37 CI170_HUMAN chromosome 9 open reading frame 170 80 large_intestine(3)|lung(2)|prostate(1) 6 ggagaaagtctgatttaggag 0.393000 4 20 0 0 0.009096 0 0 MAST1 22983 broad.mit.edu 37 19 12951871 12951871 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr19:12951871C>T ENST00000251472.4 + 3 278 c.239C>T c.(238-240)tCc>tTc p.S80F MAST1_ENST00000591495.1_Missense_Mutation_p.S76F NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 80 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 TCGTTTGCCTCCTCCCGAAGG 0.627000 4 38 0 0 0.014758 0 0 ELN 2006 broad.mit.edu 37 7 73474271 73474271 + Silent SNP T T C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr7:73474271T>C ENST00000252034.7 + 23 1869 c.1470T>C c.(1468-1470)ggT>ggC p.G490G ELN_ENST00000380562.4_Silent_p.G496G|ELN_ENST00000380575.4_Silent_p.G461G|ELN_ENST00000458204.1_Silent_p.G480G|ELN_ENST00000445912.1_Silent_p.G490G|ELN_ENST00000380576.5_Silent_p.G471G|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Silent_p.G476G|ELN_ENST00000414324.1_Silent_p.G466G|ELN_ENST00000380553.4_Silent_p.G354G|ELN_ENST00000380584.4_Silent_p.G457G|ELN_ENST00000358929.4_Silent_p.G525G|ELN_ENST00000357036.5_Silent_p.G495G|ELN_ENST00000320399.6_Silent_p.G490G|ELN_ENST00000320492.7_Silent_p.G409G NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 519 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) CTGGTGTCGGTGTGGCTCCTG 0.602000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 15 173 0 0 0.045515 0 0 TGM5 9333 broad.mit.edu 37 15 43545012 43545012 + Silent SNP G G C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr15:43545012G>C ENST00000220420.5 - 6 814 c.807C>G c.(805-807)ggC>ggG p.G269G TGM5_ENST00000349114.4_Silent_p.G187G NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 269 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) CGGGCTGGCAGCCTGTGGCGT 0.592000 11 51 0 0 0.093190 0 0 ISM1 140862 broad.mit.edu 37 20 13279972 13279972 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr20:13279972C>T ENST00000262487.3 + 6 1267 c.1261C>T c.(1261-1263)Ctg>Ttg p.L421L TASP1_ENST00000539805.1_Intron NM_080826.1 NP_543016.1 B1AKI9 ISM1_HUMAN isthmin 1, angiogenesis inhibitor 421 AMOP. extracellular region NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1) 17 GGTGGACGTCCTGCCCTGGAT 0.622000 5 21 0 0 0.014758 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 63 0 0 0.021553 0 0 MAP1B 4131 broad.mit.edu 37 5 71491407 71491407 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr5:71491407C>T ENST00000296755.7 + 5 2523 c.2225C>T c.(2224-2226)tCa>tTa p.S742L NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 742 Lys-rich (highly basic, contains many KKEE and KKEI/V repeats). microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GCAAAGAAATCATCTACTCCT 0.393000 8 77 0 0 0.047766 0 0 CSNK2B 1460 broad.mit.edu 37 6 31635648 31635648 + Missense_Mutation SNP G G C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr6:31635648G>C ENST00000375880.2 + 3 194 c.76G>C c.(76-78)Gat>Cat p.D26H CSNK2B_ENST00000375885.4_Missense_Mutation_p.D45H|CSNK2B_ENST00000375866.2_Missense_Mutation_p.D26H|CSNK2B_ENST00000375865.2_Missense_Mutation_p.D26H|CSNK2B_ENST00000375882.2_Missense_Mutation_p.D26H CTGACAGGTGGATGAAGACTA 0.458000 13 20 0 0 0.093190 0 0 PUS7L 83448 broad.mit.edu 37 12 44130374 44130374 + Missense_Mutation SNP T T A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr12:44130374T>A ENST00000416848.2 - 7 2023 c.1535A>T c.(1534-1536)gAg>gTg p.E512V PUS7L_ENST00000344862.5_Missense_Mutation_p.E512V|PUS7L_ENST00000431332.3_Missense_Mutation_p.E199V|PUS7L_ENST00000551923.1_Missense_Mutation_p.E512V NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 512 TRUD. pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) ACAACCTTCCTCGGTCATGCC 0.448000 12 50 0 0 0.080935 0 0 PISD 23761 broad.mit.edu 37 22 32017676 32017676 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr22:32017676G>A ENST00000382151.2 - 4 834 c.415C>T c.(415-417)Ctg>Ttg p.L139L PISD_ENST00000439502.2_Silent_p.L173L|PISD_ENST00000336566.4_Silent_p.L173L|PISD_ENST00000266095.5_Silent_p.L139L|PISD_ENST00000397500.1_Silent_p.L139L|PISD_ENST00000478893.1_5'UTR Q9UG56 PISD_HUMAN phosphatidylserine decarboxylase 173 phospholipid biosynthetic process mitochondrion phosphatidylserine decarboxylase activity central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 12 Phosphatidylserine(DB00144) TGCGGCTTCAGCTTGCGCCGG 0.602000 5 29 0 0 0.021553 0 0 HAUS8 93323 broad.mit.edu 37 19 17163638 17163638 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr19:17163638C>T ENST00000593360.1 - 9 2761 c.743G>A c.(742-744)cGa>cAa p.R248Q HAUS8_ENST00000253669.5_Missense_Mutation_p.R309Q|CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000448593.2_Missense_Mutation_p.R308Q Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 309 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 GAGGTACCTTCGGAGCTCAAG 0.527000 OREG0025339 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 80 0 0 0.028581 0 0 FBXO43 286151 broad.mit.edu 37 8 101149817 101149817 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr8:101149817G>A ENST00000428847.2 - 3 1966 c.1650C>T c.(1648-1650)atC>atT p.I550I NM_001029860.3 NP_001025031.2 Q4G163 FBX43_HUMAN F-box protein 43 550 meiosis zinc ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) TCAGTTGTGTGATATAAAATT 0.303000 17 20 0 0 0.033300 0 0 ZFAT 57623 broad.mit.edu 37 8 135620985 135620985 + Missense_Mutation SNP T T C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr8:135620985T>C ENST00000520727.1 - 6 1035 c.736A>G c.(736-738)Atg>Gtg p.M246V ZFAT_ENST00000429442.2_Missense_Mutation_p.M246V|ZFAT_ENST00000523399.1_Missense_Mutation_p.M196V|ZFAT_ENST00000520214.1_Missense_Mutation_p.M246V|ZFAT_ENST00000377838.3_Missense_Mutation_p.M258V|ZFAT_ENST00000520356.1_Missense_Mutation_p.M246V NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) CTTGACTTCATTGGTTGCTCA 0.483000 52 42 0 0 0.048971 0 0 EIF4B 1975 broad.mit.edu 37 12 53410391 53410391 + Missense_Mutation SNP G G C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr12:53410391G>C ENST00000262056.9 + 2 474 c.148G>C c.(148-150)Gat>Cat p.D50H RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.D50H|RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.D50H|EIF4B_ENST00000551527.1_3'UTR NM_001417.4 NP_001408.2 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 50 insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1) 22 CCTGGAAGGAGATGGTAACTT 0.403000 11 52 0 0 0.105934 0 0 TBC1D10C 374403 broad.mit.edu 37 11 67172899 67172899 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr11:67172899G>A ENST00000312390.5 + 4 311 c.282G>A c.(280-282)ccG>ccA p.P94P TBC1D10C_ENST00000526387.1_Silent_p.P94P|TBC1D10C_ENST00000542590.1_Silent_p.P94P NM_198517.3 NP_940919.1 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 94 Rab-GAP TBC. intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) AAGGCATCCCGTCTGCCCTGC 0.657000 13 38 0 0 0.020292 0 0 PUS7L 83448 broad.mit.edu 37 12 44148848 44148848 + Silent SNP A A G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr12:44148848A>G ENST00000416848.2 - 2 689 c.201T>C c.(199-201)ttT>ttC p.F67F PUS7L_ENST00000344862.5_Silent_p.F67F|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Silent_p.F67F|PUS7L_ENST00000551923.1_Silent_p.F67F NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 67 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) GTTTTTTGGGAAAATTATTTG 0.323000 4 52 0 0 0.014758 0 0 EMR3 84658 broad.mit.edu 37 19 14752358 14752358 + Missense_Mutation SNP G G T rs146538980 by1000genomes TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr19:14752358G>T ENST00000253673.5 - 10 1221 c.1121C>A c.(1120-1122)gCg>gAg p.A374E EMR3_ENST00000599900.1_Missense_Mutation_p.A159E|EMR3_ENST00000443157.2_Missense_Mutation_p.A248E|EMR3_ENST00000344373.4_Missense_Mutation_p.A322E NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 374 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 AGTGAGGGCCGCCAGGAGGAG 0.582000 8 37 2.17888e-05 2.35878e-05 0.058154 1 0 ADCK3 56997 broad.mit.edu 37 1 227169739 227169739 + Missense_Mutation SNP G G A rs148376283 TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:227169739G>A ENST00000366779.1 + 11 3513 c.742G>A c.(742-744)Gtg>Atg p.V248M ADCK3_ENST00000458507.2_5'UTR|ADCK3_ENST00000366775.1_Missense_Mutation_p.V93M|ADCK3_ENST00000366777.3_Missense_Mutation_p.V248M|ADCK3_ENST00000433743.2_5'UTR|ADCK3_ENST00000366778.1_Missense_Mutation_p.V196M|ADCK3_ENST00000366776.1_Missense_Mutation_p.V173M|ADCK3_ENST00000478406.1_3'UTR Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 248 cell death mitochondrion ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 GAAGAAGGCCGTGCTGGGTTC 0.652000 29 36 0 0 0.037714 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159819580 159819580 + RNA SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr3:159819580G>A ENST00000497452.1 - 0 517 CATCTTGACCGCATTGTGAAG 0.433000 37 154 0 0 0.086207 0 0 PCK1 5105 broad.mit.edu 37 20 56137828 56137828 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr20:56137828G>A ENST00000319441.4 + 4 647 c.483G>A c.(481-483)acG>acA p.T161T PCK1_ENST00000535860.1_Silent_p.T29T|PCK1_ENST00000543666.1_Intron NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 161 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) TCGAGCTGACGGATTCACCCT 0.612000 4 46 0 0 0.009096 0 0 TTC27 55622 broad.mit.edu 37 2 33012122 33012122 + Missense_Mutation SNP A A G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr2:33012122A>G ENST00000317907.4 + 16 2135 c.1904A>G c.(1903-1905)tAc>tGc p.Y635C NM_001193509.1|NM_017735.4 NP_001180438.1|NP_060205.3 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 635 protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 TGGGAAAACTACATCCTCACC 0.393000 11 50 0 0 0.069234 0 0 MTA2 9219 broad.mit.edu 37 11 62361790 62361790 + Missense_Mutation SNP C C G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr11:62361790C>G ENST00000278823.2 - 17 2171 c.1782G>C c.(1780-1782)caG>caC p.Q594H MTA2_ENST00000524902.1_Missense_Mutation_p.Q421H|MTA2_ENST00000527204.1_Missense_Mutation_p.Q421H NM_004739.3 NP_004730.2 O94776 MTA2_HUMAN metastasis associated 1 family, member 2 594 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 26 GGTTTAGTTTCTGACGCTTGG 0.567000 8 49 0 0 0.047766 0 0 UBR5 51366 broad.mit.edu 37 8 103309160 103309160 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr8:103309160G>A ENST00000520539.1 - 28 4232 c.3626C>T c.(3625-3627)aCg>aTg p.T1209M UBR5_ENST00000220959.4_Missense_Mutation_p.T1209M|UBR5_ENST00000521922.1_Missense_Mutation_p.T1203M NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 1209 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TGCACATTCCGTACAACAACA 0.318000 4 33 0 0 0.014758 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 5 32 0 0 0.014758 0 0 PSD4 23550 broad.mit.edu 37 2 113942946 113942946 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr2:113942946C>T ENST00000245796.6 + 4 1373 c.1178C>T c.(1177-1179)tCt>tTt p.S393F PSD4_ENST00000441564.2_Missense_Mutation_p.S393F NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 393 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CAACAGGCCTCTCTCAGCCCT 0.587000 21 90 0 0 0.083992 0 0 HELZ2 85441 broad.mit.edu 37 20 62192986 62192986 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr20:62192986G>A ENST00000467148.1 - 12 6873 c.6804C>T c.(6802-6804)agC>agT p.S2268S HELZ2_ENST00000427522.2_Silent_p.S1699S NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CCTCCCGGGGGCTCTTCCTGA 0.657000 42 62 0 0 0.086207 0 0 MVP 9961 broad.mit.edu 37 16 29851704 29851704 + Missense_Mutation SNP A A G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr16:29851704A>G ENST00000357402.5 + 8 1253 c.1115A>G c.(1114-1116)gAg>gGg p.E372G MVP_ENST00000452209.2_3'UTR|MVP_ENST00000395353.1_Missense_Mutation_p.E372G NM_005115.4|NM_017458.3 NP_005106.2|NP_059447.2 Q14764 MVP_HUMAN major vault protein 372 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 GCCAAAGTGGAGGTGGTGGAG 0.612000 2 8 0 0 0.004672 0 0 FAM63B 54629 broad.mit.edu 37 15 59064131 59064131 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr15:59064131C>T ENST00000559228.1 + 1 619 c.537C>T c.(535-537)ttC>ttT p.F179F FAM63B_ENST00000450403.2_Silent_p.F179F Q8NBR6 FA63B_HUMAN family with sequence similarity 63, member B 179 central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 TGGAGTCGTTCTCTAACCTGC 0.647000 11 19 0 0 0.080935 0 0 ANXA9 8416 broad.mit.edu 37 1 150967079 150967079 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:150967079G>A ENST00000368947.4 + 13 1355 c.879G>A c.(877-879)ctG>ctA p.L293L NM_003568.2 NP_003559.2 O76027 ANXA9_HUMAN annexin A9 293 cell-cell adhesion cell surface|cytosol acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(4)|skin(2) 8 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ACCAAGTCCTGATTCGCATCC 0.483000 12 149 0 0 0.105934 0 0 TTN 7273 broad.mit.edu 37 2 179451387 179451387 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr2:179451387C>T ENST00000589042.1 - 308 64465 c.64241G>A c.(64240-64242)cGc>cAc p.R21414H TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R18846H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19773H|TTN_ENST00000359218.5_Missense_Mutation_p.R12474H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12349H|TTN_ENST00000342175.6_Missense_Mutation_p.R12541H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19773 Fibronectin type-III 55. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCTGTCCAGCGATCTGCAGG 0.468000 26 73 0 0 0.091800 0 0 HPX 3263 broad.mit.edu 37 11 6452604 6452604 + Missense_Mutation SNP A A G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr11:6452604A>G ENST00000265983.3 - 10 1326 c.1226T>C c.(1225-1227)aTg>aCg p.M409T NM_000613.2 NP_000604.1 P02790 HEMO_HUMAN hemopexin 409 cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(11)|prostate(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) GGACTTTTCCATACACAAGGC 0.562000 15 34 0 0 0.028581 0 0 ELN 2006 broad.mit.edu 37 7 73474265 73474265 + Silent SNP T T A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr7:73474265T>A ENST00000252034.7 + 23 1863 c.1464T>A c.(1462-1464)ggT>ggA p.G488G ELN_ENST00000380562.4_Silent_p.G494G|ELN_ENST00000380575.4_Silent_p.G459G|ELN_ENST00000458204.1_Silent_p.G478G|ELN_ENST00000445912.1_Silent_p.G488G|ELN_ENST00000380576.5_Silent_p.G469G|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Silent_p.G474G|ELN_ENST00000414324.1_Silent_p.G464G|ELN_ENST00000380553.4_Silent_p.G352G|ELN_ENST00000380584.4_Silent_p.G455G|ELN_ENST00000358929.4_Silent_p.G523G|ELN_ENST00000357036.5_Silent_p.G493G|ELN_ENST00000320399.6_Silent_p.G488G|ELN_ENST00000320492.7_Silent_p.G407G NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 517 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) TGGCTCCTGGTGTCGGTGTGG 0.602000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 9 174 0 0 0.108266 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215474 140215474 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr5:140215474C>T ENST00000525929.1 + 1 1506 c.1506C>T c.(1504-1506)cgC>cgT p.R502R PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Silent_p.R502R|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGCGAGCGCGCGCTGTCGA 0.677000 13 79 0 0 0.024245 0 0 CR1 1378 broad.mit.edu 37 1 207793408 207793408 + Missense_Mutation SNP C C G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:207793408C>G ENST00000367049.4 + 43 7250 c.7250C>G c.(7249-7251)tCt>tGt p.S2417C CR1_ENST00000367051.1_Missense_Mutation_p.S1967C|CR1_ENST00000367053.1_Missense_Mutation_p.S1967C|CR1_ENST00000400960.2_Missense_Mutation_p.S1967C|CR1_ENST00000367052.1_Missense_Mutation_p.S1967C NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1967 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 AAATGTACCTCTCGTAAGTGC 0.493000 OREG0014194 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 14 0 0 0.009096 0 0 DNAH8 1769 broad.mit.edu 37 6 38704881 38704881 + Silent SNP C C G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr6:38704881C>G ENST00000359357.3 + 4 404 c.150C>G c.(148-150)ctC>ctG p.L50L DNAH8_ENST00000441566.1_Silent_p.L50L|DNAH8_ENST00000449981.2_Silent_p.L267L dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CGAAAGGACTCTTAAATGGAA 0.398000 5 83 0 0 0.029380 0 0 ACO1 48 broad.mit.edu 37 9 32423392 32423392 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr9:32423392C>T ENST00000379923.1 + 10 1252 c.1046C>T c.(1045-1047)cCt>cTt p.P349L ACO1_ENST00000541043.1_Missense_Mutation_p.P250L|ACO1_ENST00000309951.5_Missense_Mutation_p.P349L NM_001278352.1 NP_001265281.1 P21399 ACOC_HUMAN aconitase 1, soluble 349 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 30 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) TTCAATGACCCTTCTCAAGAC 0.398000 6 43 0 0 0.029380 0 0 GPR4 2828 broad.mit.edu 37 19 46094975 46094975 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr19:46094975G>A ENST00000323040.4 - 2 1094 c.150C>T c.(148-150)aaC>aaT p.N50N OPA3_ENST00000544371.1_Intron NM_005282.2 NP_005273.1 P46093 GPR4_HUMAN G protein-coupled receptor 4 50 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) CGCCCAGCTCGTTGCGCTGTT 0.617000 18 46 0 0 0.038395 0 0 TPCN2 219931 broad.mit.edu 37 11 68822187 68822187 + Splice_Site SNP A A G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr11:68822187A>G ENST00000294309.3 + 3 275 c.e3-1 TPCN2_ENST00000542467.1_Splice_Site NM_139075.3 NP_620714.2 Q8NHX9 TPC2_HUMAN two pore segment channel 2 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 32 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TTTCGCTTGTAGTACCGCTCC 0.577000 6 25 0 0 0.038147 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823814 38823814 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr22:38823814C>T ENST00000303592.3 - 2 582 c.324G>A c.(322-324)ccG>ccA p.P108P NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 108 Val/Gly/Ala/Pro stretch. synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) TGGGGGCCACCGGGGCTGCTC 0.692000 15 23 0 0 0.020292 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112900135 112900135 + Missense_Mutation SNP G G A rs142423891 TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr9:112900135G>A ENST00000374530.3 + 8 2491 c.2311G>A c.(2311-2313)Gtc>Atc p.V771I AKAP2_ENST00000434623.2_Missense_Mutation_p.V629I|AKAP2_ENST00000374525.1_Missense_Mutation_p.V629I|AKAP2_ENST00000259318.7_Missense_Mutation_p.V540I|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.V771I|AKAP2_ENST00000555236.1_Missense_Mutation_p.V771I|AKAP2_ENST00000510514.5_Missense_Mutation_p.V771I NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 540 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 AGGAGAAGGCGTCTCCAAGTC 0.532000 5 46 0 0 0.014758 0 0 RBBP7 5931 broad.mit.edu 37 X 16887232 16887232 + Missense_Mutation SNP C C A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chrX:16887232C>A ENST00000380087.2 - 2 488 c.128G>T c.(127-129)aGt>aTt p.S43I RBBP7_ENST00000380084.4_Missense_Mutation_p.S87I|RBBP7_ENST00000404022.1_Missense_Mutation_p.S43I Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 43 cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex|NuRD complex protein binding biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 25 Hepatocellular(33;0.0997) AACGGTAAGACTGGGCCACTG 0.403000 8 28 1.12685e-05 1.26207e-05 0.047766 1 0 FBXO43 286151 broad.mit.edu 37 8 101149817 101149817 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr8:101149817G>A ENST00000428847.2 - 3 1966 c.1650C>T c.(1648-1650)atC>atT p.I550I NM_001029860.3 NP_001025031.2 Q4G163 FBX43_HUMAN F-box protein 43 550 meiosis zinc ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) TCAGTTGTGTGATATAAAATT 0.303000 17 20 0 0 0.033300 0 0 PKD1 5310 broad.mit.edu 37 16 2158547 2158547 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr16:2158547G>A ENST00000262304.4 - 15 6829 c.6621C>T c.(6619-6621)ccC>ccT p.P2207P PKD1_ENST00000423118.1_Silent_p.P2207P NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 2207 REJ. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CGTCCACGCCGGGCAGGGCCA 0.697000 4 11 0 0 0.009096 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725596 32725596 + Silent SNP C C G rs115565146 by1000genomes TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr6:32725596C>G ENST00000435145.2 - 4 772 c.711G>C c.(709-711)ctG>ctC p.L237L HLA-DQB2_ENST00000437316.2_Silent_p.L237L|HLA-DQB2_ENST00000411527.1_Intron Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CGAGGAAGATCAGCCCCAGCA 0.562000 3 14 0 0 0.004672 0 0 EIF4B 1975 broad.mit.edu 37 12 53410391 53410391 + Missense_Mutation SNP G G C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr12:53410391G>C ENST00000262056.9 + 2 474 c.148G>C c.(148-150)Gat>Cat p.D50H RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000420463.3_Missense_Mutation_p.D50H|EIF4B_ENST00000416762.3_Missense_Mutation_p.D50H NM_001417.4 NP_001408.2 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 50 insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1) 22 CCTGGAAGGAGATGGTAACTT 0.403000 11 52 0 0 0.105934 0 0 TBC1D10C 374403 broad.mit.edu 37 11 67172899 67172899 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr11:67172899G>A ENST00000312390.5 + 4 311 c.282G>A c.(280-282)ccG>ccA p.P94P TBC1D10C_ENST00000526387.1_Silent_p.P94P|TBC1D10C_ENST00000542590.1_Silent_p.P94P NM_198517.3 NP_940919.1 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 94 Rab-GAP TBC. intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) AAGGCATCCCGTCTGCCCTGC 0.657000 13 38 0 0 0.020292 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41752804 41752804 + Silent SNP C C G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr22:41752804C>G ENST00000352645.4 + 22 2930 c.2673C>G c.(2671-2673)ctC>ctG p.L891L ZC3H7B_ENST00000351589.4_Silent_p.L891L NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 907 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 AGTTCCGGCTCTGCGACAGGT 0.667000 7 39 0 0 0.029380 0 0 PUS7L 83448 broad.mit.edu 37 12 44148848 44148848 + Silent SNP A A G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr12:44148848A>G ENST00000416848.2 - 2 689 c.201T>C c.(199-201)ttT>ttC p.F67F PUS7L_ENST00000553166.1_Silent_p.F67F|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Silent_p.F67F|PUS7L_ENST00000551923.1_Silent_p.F67F NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 67 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) GTTTTTTGGGAAAATTATTTG 0.323000 4 52 0 0 0.014758 0 0 EMR3 84658 broad.mit.edu 37 19 14752358 14752358 + Missense_Mutation SNP G G T rs146538980 by1000genomes TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr19:14752358G>T ENST00000253673.5 - 10 1221 c.1121C>A c.(1120-1122)gCg>gAg p.A374E EMR3_ENST00000443157.2_Missense_Mutation_p.A248E|EMR3_ENST00000344373.4_Missense_Mutation_p.A322E|EMR3_ENST00000599900.1_Missense_Mutation_p.A159E NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 374 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 AGTGAGGGCCGCCAGGAGGAG 0.582000 8 37 2.17888e-05 2.40823e-05 0.058154 1 0 CECR5 27440 broad.mit.edu 37 22 17619607 17619607 + Silent SNP C C A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr22:17619607C>A ENST00000336737.4 - 7 793 c.768G>T c.(766-768)ctG>ctT p.L256L CECR5_ENST00000155674.5_Silent_p.L226L|CECR5_ENST00000399852.3_Intron NM_033070.2 NP_149061.1 Q9BXW7 CECR5_HUMAN cat eye syndrome chromosome region, candidate 5 256 hydrolase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1) 21 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) CCAGGCACAGCAGAAAGGTGC 0.537000 13 121 9.31168e-06 1.057e-05 0.105934 1 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159819580 159819580 + RNA SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr3:159819580G>A ENST00000497452.1 - 0 517 CATCTTGACCGCATTGTGAAG 0.433000 37 154 0 0 0.086207 0 0 KIAA0754 643314 broad.mit.edu 37 1 39878082 39878082 + Silent SNP T T C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr1:39878082T>C ENST00000530275.1 + 1 1932 c.1737T>C c.(1735-1737)tgT>tgC p.C579C MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000539005.1_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 579 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGAAAGTTTGTGATGAGGATG 0.423000 6 38 0 0 0.021553 0 0 TRIM36 55521 broad.mit.edu 37 5 114499269 114499269 + Missense_Mutation SNP G G C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr5:114499269G>C ENST00000513154.1 - 2 534 c.208C>G c.(208-210)Cga>Gga p.R70G TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000282369.3_Missense_Mutation_p.R82G Q9NQ86 TRI36_HUMAN tripartite motif containing 36 82 acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) AGCCGAAGTCGAGGACTGCTT 0.453000 5 49 0 0 0.021553 0 0 CTNNA2 1496 broad.mit.edu 37 2 80646578 80646578 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr2:80646578G>A ENST00000466387.1 + 13 1866 c.1142G>A c.(1141-1143)cGg>cAg p.R381Q CTNNA2_ENST00000402739.4_Missense_Mutation_p.R381Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R60Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R381Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R415Q P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 381 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CTGTAGCTTCGGAAAGCAGTG 0.358000 8 51 0 0 0.038147 0 0 PHLDA2 7262 broad.mit.edu 37 11 2950579 2950579 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr11:2950579C>T ENST00000314222.4 - 1 106 c.16G>A c.(16-18)Gag>Aag p.E6K NM_003311.3 NP_003302.1 Q53GA4 PHLA2_HUMAN pleckstrin homology-like domain, family A, member 2 6 apoptosis cytoplasm|membrane central_nervous_system(1) 1 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19) CGTAGCACCTCGTCGGGGGAT 0.677000 10 8 0 0 0.069234 0 0 ATP8A1 10396 broad.mit.edu 37 4 42551058 42551058 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr4:42551058C>T ENST00000381668.5 - 19 1855 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K ATP8A1_ENST00000264449.10_Missense_Mutation_p.E527K NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 542 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) TTGAGCAATTCATATCTTTCT 0.308000 9 40 0 0 0.047766 0 0 TTC7A 57217 broad.mit.edu 37 2 47238537 47238537 + Missense_Mutation SNP T T C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr2:47238537T>C ENST00000319190.5 + 11 1723 c.1355T>C c.(1354-1356)cTg>cCg p.L452P TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_Missense_Mutation_p.L98P|TTC7A_ENST00000394850.2_Missense_Mutation_p.L452P|TTC7A_ENST00000409245.1_Missense_Mutation_p.L418P NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 452 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) ACCGTGCCCCTGATGGCCGCG 0.637000 3 14 0 0 0.004672 0 0 MTA2 9219 broad.mit.edu 37 11 62361790 62361790 + Missense_Mutation SNP C C G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr11:62361790C>G ENST00000278823.2 - 17 2171 c.1782G>C c.(1780-1782)caG>caC p.Q594H MTA2_ENST00000527204.1_Missense_Mutation_p.Q421H|MTA2_ENST00000524902.1_Missense_Mutation_p.Q421H NM_004739.3 NP_004730.2 O94776 MTA2_HUMAN metastasis associated 1 family, member 2 594 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 26 GGTTTAGTTTCTGACGCTTGG 0.567000 8 49 0 0 0.047766 0 0 PUS7L 83448 broad.mit.edu 37 12 44130374 44130374 + Missense_Mutation SNP T T A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr12:44130374T>A ENST00000416848.2 - 7 2023 c.1535A>T c.(1534-1536)gAg>gTg p.E512V PUS7L_ENST00000431332.3_Missense_Mutation_p.E199V|PUS7L_ENST00000344862.5_Missense_Mutation_p.E512V|PUS7L_ENST00000551923.1_Missense_Mutation_p.E512V NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 512 TRUD. pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) ACAACCTTCCTCGGTCATGCC 0.448000 12 50 0 0 0.080935 0 0 PSD4 23550 broad.mit.edu 37 2 113942946 113942946 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr2:113942946C>T ENST00000245796.6 + 4 1373 c.1178C>T c.(1177-1179)tCt>tTt p.S393F PSD4_ENST00000441564.2_Missense_Mutation_p.S393F NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 393 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CAACAGGCCTCTCTCAGCCCT 0.587000 21 90 0 0 0.083992 0 0 LINC00969 440993 broad.mit.edu 37 3 195395402 195395402 + RNA SNP C C A rs149044725 by1000genomes TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr3:195395402C>A ENST00000445430.1 + 0 809 TACGGGCGCACCTACTTGAGC 0.597000 4 68 0.00198382 0.00213642 0.029380 1 0 ELN 2006 broad.mit.edu 37 7 73474268 73474268 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr7:73474268C>T ENST00000252034.7 + 23 1866 c.1467C>T c.(1465-1467)gtC>gtT p.V489V ELN_ENST00000414324.1_Silent_p.V465V|ELN_ENST00000380553.4_Silent_p.V353V|ELN_ENST00000380562.4_Silent_p.V495V|ELN_ENST00000380575.4_Silent_p.V460V|ELN_ENST00000380576.5_Silent_p.V470V|ELN_ENST00000458204.1_Silent_p.V479V|ELN_ENST00000357036.5_Silent_p.V494V|ELN_ENST00000445912.1_Silent_p.V489V|ELN_ENST00000320399.6_Silent_p.V489V|ELN_ENST00000320492.7_Silent_p.V408V|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Silent_p.V475V|ELN_ENST00000380584.4_Silent_p.V456V|ELN_ENST00000358929.4_Silent_p.V524V NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 518 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) CTCCTGGTGTCGGTGTGGCTC 0.602000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 15 174 0 0 0.041601 0 0 SI 6476 broad.mit.edu 37 3 164725717 164725717 + Missense_Mutation SNP A A G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr3:164725717A>G ENST00000264382.3 - 36 4311 c.4249T>C c.(4249-4251)Tat>Cat p.Y1417H NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1417 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TAAGGTGGATAATTTAGTTCG 0.264000 HNSCC(35;0.089) 8 75 0 0 0.069234 0 0 CCDC170 80129 broad.mit.edu 37 6 151857487 151857487 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr6:151857487C>T ENST00000367290.5 + 2 181 c.92C>T c.(91-93)aCg>aTg p.T31M CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000239374.7_Missense_Mutation_p.T31M Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 31 p.T31M(1) GTCCCGGTCACGCGGGAGCAG 0.433000 5 57 0 0 0.021553 0 0 FMN2 56776 broad.mit.edu 37 1 240492666 240492666 + Silent SNP C C A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr1:240492666C>A ENST00000319653.9 + 10 4565 c.4335C>A c.(4333-4335)ccC>ccA p.P1445P FMN2_ENST00000545751.1_Silent_p.P41P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1445 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CACTAATCCCCAACTTTTCAG 0.363000 11 87 0.000673444 0.000734666 0.069234 1 0 PCDHA7 56141 broad.mit.edu 37 5 140215474 140215474 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr5:140215474C>T ENST00000525929.1 + 1 1506 c.1506C>T c.(1504-1506)cgC>cgT p.R502R PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.R502R|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGGCGAGCGCGCGCTGTCGA 0.677000 13 79 0 0 0.024245 0 0 FBLN1 2192 broad.mit.edu 37 22 45929029 45929029 + Missense_Mutation SNP G G C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr22:45929029G>C ENST00000348697.2 + 6 778 c.631G>C c.(631-633)Ggt>Cgt p.G211R FBLN1_ENST00000402984.3_Missense_Mutation_p.G249R|FBLN1_ENST00000442170.2_Missense_Mutation_p.G211R|FBLN1_ENST00000340923.5_Missense_Mutation_p.G211R|FBLN1_ENST00000262722.7_Missense_Mutation_p.G211R|FBLN1_ENST00000327858.6_Missense_Mutation_p.G211R P23142 FBLN1_HUMAN fibulin 1 211 EGF-like 1. interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GCTGTCTGATGGTGTCTCCTG 0.637000 8 35 0 0 0.038147 0 0 MVP 9961 broad.mit.edu 37 16 29851704 29851704 + Missense_Mutation SNP A A G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr16:29851704A>G ENST00000357402.5 + 8 1253 c.1115A>G c.(1114-1116)gAg>gGg p.E372G MVP_ENST00000395353.1_Missense_Mutation_p.E372G|MVP_ENST00000452209.2_3'UTR NM_005115.4|NM_017458.3 NP_005106.2|NP_059447.2 Q14764 MVP_HUMAN major vault protein 372 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 GCCAAAGTGGAGGTGGTGGAG 0.612000 2 8 0 0 0.004672 0 0 HPX 3263 broad.mit.edu 37 11 6452604 6452604 + Missense_Mutation SNP A A G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr11:6452604A>G ENST00000265983.3 - 10 1326 c.1226T>C c.(1225-1227)aTg>aCg p.M409T NM_000613.2 NP_000604.1 P02790 HEMO_HUMAN hemopexin 409 cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(11)|prostate(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) GGACTTTTCCATACACAAGGC 0.562000 15 34 0 0 0.028581 0 0 TTN 7273 broad.mit.edu 37 2 179606565 179606565 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr2:179606565C>T ENST00000589042.1 - 48 11619 c.11395G>A c.(11395-11397)Gaa>Aaa p.E3799K TTN_ENST00000359218.5_Missense_Mutation_p.E3561K|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E3482K|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3436K|TTN_ENST00000342175.6_Missense_Mutation_p.E3628K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3482 S -> Y (in CMD1G). ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E3436K(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GACAAAAGTTCAAGTGTTTCA 0.373000 4 12 0 0 0.009096 0 0 MAST1 22983 broad.mit.edu 37 19 12951871 12951871 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr19:12951871C>T ENST00000251472.4 + 3 278 c.239C>T c.(238-240)tCc>tTc p.S80F MAST1_ENST00000591495.1_Missense_Mutation_p.S76F NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 80 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 TCGTTTGCCTCCTCCCGAAGG 0.627000 4 38 0 0 0.014758 0 0 MS4A14 84689 broad.mit.edu 37 11 60170536 60170536 + Splice_Site SNP T T C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr11:60170536T>C ENST00000300187.6 + 4 745 c.e4+2 MS4A14_ENST00000531787.1_Splice_Site|MS4A14_ENST00000395001.1_Splice_Site|MS4A14_ENST00000395005.2_Splice_Site|MS4A14_ENST00000531783.1_Splice_Site NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 CTTTTCATTGTAAGTGGTCTT 0.343000 21 57 0 0 0.049695 0 0 CR1 1378 broad.mit.edu 37 1 207793408 207793408 + Missense_Mutation SNP C C G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr1:207793408C>G ENST00000367049.4 + 43 7250 c.7250C>G c.(7249-7251)tCt>tGt p.S2417C CR1_ENST00000367052.1_Missense_Mutation_p.S1967C|CR1_ENST00000367051.1_Missense_Mutation_p.S1967C|CR1_ENST00000400960.2_Missense_Mutation_p.S1967C|CR1_ENST00000367053.1_Missense_Mutation_p.S1967C NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1967 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 AAATGTACCTCTCGTAAGTGC 0.493000 OREG0014194 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 14 0 0 0.009096 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823814 38823814 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr22:38823814C>T ENST00000303592.3 - 2 582 c.324G>A c.(322-324)ccG>ccA p.P108P NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 108 Val/Gly/Ala/Pro stretch. synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) TGGGGGCCACCGGGGCTGCTC 0.692000 15 23 0 0 0.020292 0 0 VPS36 51028 broad.mit.edu 37 13 53007799 53007799 + Missense_Mutation SNP C C T rs35567300 TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr13:53007799C>T ENST00000378060.4 - 6 553 c.526G>A c.(526-528)Gag>Aag p.E176K NM_016075.2 NP_057159.2 Q86VN1 VPS36_HUMAN vacuolar protein sorting 36 homolog (S. cerevisiae) 176 cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|late endosome|membrane|nucleus lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.14e-08) ACAGTTACCTCAGAAATGTTT 0.343000 3 41 0 0 0.009096 0 0 IMMP2L 83943 broad.mit.edu 37 7 110303748 110303748 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr7:110303748G>A ENST00000405709.2 - 6 880 c.438C>T c.(436-438)gcC>gcT p.A146A IMMP2L_ENST00000450877.1_Silent_p.A128A|IMMP2L_ENST00000331762.3_Silent_p.A146A|IMMP2L_ENST00000489381.1_5'UTR|IMMP2L_ENST00000452895.1_Silent_p.A146A|IMMP2L_ENST00000415362.1_Silent_p.A146A NM_032549.3 NP_115938.1 Q96T52 IMP2L_HUMAN IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) 146 protein processing involved in protein targeting to mitochondrion|proteolysis integral to membrane|mitochondrial inner membrane peptidase complex|nucleus serine-type peptidase activity endometrium(3)|large_intestine(6)|lung(5) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173) GGATATGTGTGGCATGGGCAT 0.418000 6 48 0 0 0.029380 0 0 ELN 2006 broad.mit.edu 37 7 73474271 73474271 + Silent SNP T T C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr7:73474271T>C ENST00000252034.7 + 23 1869 c.1470T>C c.(1468-1470)ggT>ggC p.G490G ELN_ENST00000414324.1_Silent_p.G466G|ELN_ENST00000380553.4_Silent_p.G354G|ELN_ENST00000380562.4_Silent_p.G496G|ELN_ENST00000380575.4_Silent_p.G461G|ELN_ENST00000380576.5_Silent_p.G471G|ELN_ENST00000458204.1_Silent_p.G480G|ELN_ENST00000357036.5_Silent_p.G495G|ELN_ENST00000445912.1_Silent_p.G490G|ELN_ENST00000320399.6_Silent_p.G490G|ELN_ENST00000320492.7_Silent_p.G409G|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Silent_p.G476G|ELN_ENST00000380584.4_Silent_p.G457G|ELN_ENST00000358929.4_Silent_p.G525G NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 519 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) CTGGTGTCGGTGTGGCTCCTG 0.602000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 15 173 0 0 0.045515 0 0 HAUS8 93323 broad.mit.edu 37 19 17163638 17163638 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr19:17163638C>T ENST00000593360.1 - 9 2761 c.743G>A c.(742-744)cGa>cAa p.R248Q HAUS8_ENST00000448593.2_Missense_Mutation_p.R308Q|HAUS8_ENST00000253669.5_Missense_Mutation_p.R309Q|CTD-2528A14.3_ENST00000598893.1_RNA Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 309 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 GAGGTACCTTCGGAGCTCAAG 0.527000 OREG0025339 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 80 0 0 0.028581 0 0 SOGA3 387104 broad.mit.edu 37 6 127796911 127796911 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr6:127796911C>T ENST00000556132.1 - 6 3124 c.2260G>A c.(2260-2262)Gag>Aag p.E754K SOGA3_ENST00000525778.1_Missense_Mutation_p.E754K|SOGA3_ENST00000481848.2_Missense_Mutation_p.E754K|SOGA3_ENST00000368268.2_Missense_Mutation_p.E754K|SOGA3_ENST00000465909.2_Missense_Mutation_p.E754K NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 754 integral to membrane GCGTCGCTCTCGGCGTCGCTG 0.701000 11 83 0 0 0.093190 0 0 TGM5 9333 broad.mit.edu 37 15 43545012 43545012 + Silent SNP G G C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr15:43545012G>C ENST00000220420.5 - 6 814 c.807C>G c.(805-807)ggC>ggG p.G269G TGM5_ENST00000349114.4_Silent_p.G187G NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 269 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) CGGGCTGGCAGCCTGTGGCGT 0.592000 11 51 0 0 0.093190 0 0 TP53 7157 broad.mit.edu 37 17 7574012 7574012 + Nonsense_Mutation SNP C C A rs17882252 TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr17:7574012C>A ENST00000269305.4 - 10 1204 c.1015G>T c.(1015-1017)Gag>Tag p.E339* TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E339*|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 339 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. E -> K (in a sporadic cancer; somatic mutation; dbSNP:rs17882252).|E -> Q (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E339*(14)|p.0?(8)|p.E339fs*8(2)|p.E339Q(1)|p.?(1)|p.F338fs*6(1)|p.F338_E339>L(1)|p.E339fs*13(1)|p.I332fs*5(1)|p.E339K(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGAACATCTCGAAGCGCTCA 0.537000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 5 10 0.014758 0.015692 0.014758 1 0 ELN 2006 broad.mit.edu 37 7 73474265 73474265 + Silent SNP T T A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr7:73474265T>A ENST00000252034.7 + 23 1863 c.1464T>A c.(1462-1464)ggT>ggA p.G488G ELN_ENST00000414324.1_Silent_p.G464G|ELN_ENST00000380553.4_Silent_p.G352G|ELN_ENST00000380562.4_Silent_p.G494G|ELN_ENST00000380575.4_Silent_p.G459G|ELN_ENST00000380576.5_Silent_p.G469G|ELN_ENST00000458204.1_Silent_p.G478G|ELN_ENST00000357036.5_Silent_p.G493G|ELN_ENST00000445912.1_Silent_p.G488G|ELN_ENST00000320399.6_Silent_p.G488G|ELN_ENST00000320492.7_Silent_p.G407G|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Silent_p.G474G|ELN_ENST00000380584.4_Silent_p.G455G|ELN_ENST00000358929.4_Silent_p.G523G NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 517 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) TGGCTCCTGGTGTCGGTGTGG 0.602000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 9 174 0 0 0.108266 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43915893 43915893 + Missense_Mutation SNP G G C rs143747399 by1000genomes TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr9:43915893G>C ENST00000377564.3 + 23 4134 c.3741G>C c.(3739-3741)atG>atC p.M1247I NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 1247 cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 CTGCTGTCATGGGAGGTAACA 0.433000 3 32 0 0 0.004672 0 0 PISD 23761 broad.mit.edu 37 22 32017676 32017676 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr22:32017676G>A ENST00000382151.2 - 4 834 c.415C>T c.(415-417)Ctg>Ttg p.L139L PISD_ENST00000266095.5_Silent_p.L139L|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000439502.2_Silent_p.L173L|PISD_ENST00000397500.1_Silent_p.L139L|PISD_ENST00000336566.4_Silent_p.L173L Q9UG56 PISD_HUMAN phosphatidylserine decarboxylase 173 phospholipid biosynthetic process mitochondrion phosphatidylserine decarboxylase activity central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 12 Phosphatidylserine(DB00144) TGCGGCTTCAGCTTGCGCCGG 0.602000 5 29 0 0 0.021553 0 0 ERAP1 51752 broad.mit.edu 37 5 96121595 96121595 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr5:96121595C>T ENST00000296754.3 - 13 2097 c.1840G>A c.(1840-1842)Gat>Aat p.D614N ERAP1_ENST00000514604.1_5'UTR|CTD-2260A17.1_ENST00000512856.1_RNA|ERAP1_ENST00000443439.2_Missense_Mutation_p.D614N|CTD-2260A17.1_ENST00000602972.1_RNA NM_016442.3 NP_057526.3 Q9NZ08 ERAP1_HUMAN endoplasmic reticulum aminopeptidase 1 614 angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2) 19 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) CATCCATCATCCTCGTAATGC 0.413000 4 49 0 0 0.009096 0 0 CNN1 1264 broad.mit.edu 37 19 11651894 11651894 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr19:11651894G>A ENST00000252456.2 + 2 278 c.67G>A c.(67-69)Gcc>Acc p.A23T CNN1_ENST00000535659.2_5'UTR|CNN1_ENST00000592923.1_5'UTR|CNN1_ENST00000588468.1_3'UTR|CNN1_ENST00000544952.1_Missense_Mutation_p.A3T NM_001299.4 NP_001290.2 P51911 CNN1_HUMAN calponin 1, basic, smooth muscle 23 actomyosin structure organization|regulation of smooth muscle contraction cytoskeleton actin binding|calmodulin binding breast(1)|endometrium(2)|large_intestine(4)|lung(2) 9 GCCCCAGCTGGCCCAGAAGTA 0.632000 3 14 0 0 0.004672 0 0 RSBN1 54665 broad.mit.edu 37 1 114354936 114354936 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr1:114354936C>T ENST00000261441.5 - 1 162 c.99G>A c.(97-99)gcG>gcA p.A33A NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 33 nucleus breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCCCCCCGTCCGCGCATCGCG 0.672000 4 53 0 0 0.014758 0 0 DNAH8 1769 broad.mit.edu 37 6 38704881 38704881 + Silent SNP C C G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr6:38704881C>G ENST00000359357.3 + 4 404 c.150C>G c.(148-150)ctC>ctG p.L50L DNAH8_ENST00000449981.2_Silent_p.L267L|DNAH8_ENST00000441566.1_Silent_p.L50L dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CGAAAGGACTCTTAAATGGAA 0.398000 5 83 0 0 0.029380 0 0 ACO1 48 broad.mit.edu 37 9 32423392 32423392 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr9:32423392C>T ENST00000379923.1 + 10 1252 c.1046C>T c.(1045-1047)cCt>cTt p.P349L ACO1_ENST00000309951.5_Missense_Mutation_p.P349L|ACO1_ENST00000541043.1_Missense_Mutation_p.P250L NM_001278352.1 NP_001265281.1 P21399 ACOC_HUMAN aconitase 1, soluble 349 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 30 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) TTCAATGACCCTTCTCAAGAC 0.398000 6 43 0 0 0.029380 0 0 ZNF423 23090 broad.mit.edu 37 16 49672378 49672378 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr16:49672378G>A ENST00000561648.1 - 4 738 c.685C>T c.(685-687)Cgc>Tgc p.R229C ZNF423_ENST00000562520.1_Missense_Mutation_p.R169C|ZNF423_ENST00000562871.1_Missense_Mutation_p.R169C|ZNF423_ENST00000535559.1_Missense_Mutation_p.R112C|ZNF423_ENST00000262383.2_Missense_Mutation_p.R229C|ZNF423_ENST00000563137.2_Missense_Mutation_p.R169C|ZNF423_ENST00000567169.1_Missense_Mutation_p.R112C NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 229 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GAGAAGCCGCGCTTGCACACA 0.597000 6 46 0 0 0.021553 0 0 MAP1B 4131 broad.mit.edu 37 5 71491407 71491407 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr5:71491407C>T ENST00000296755.7 + 5 2523 c.2225C>T c.(2224-2226)tCa>tTa p.S742L NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 742 Lys-rich (highly basic, contains many KKEE and KKEI/V repeats). microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GCAAAGAAATCATCTACTCCT 0.393000 8 77 0 0 0.047766 0 0 IRX1 79192 broad.mit.edu 37 5 3600115 3600115 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr5:3600115G>A ENST00000302006.3 + 2 1105 c.1053G>A c.(1051-1053)ccG>ccA p.P351P CTD-2012M11.3_ENST00000559410.1_RNA NM_024337.3 NP_077313.3 P78414 IRX1_HUMAN iroquois homeobox 1 351 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 ccggggcgccgcTGCAACACC 0.721000 5 9 0 0 0.014758 0 0 CSNK2B 1460 broad.mit.edu 37 6 31635648 31635648 + Missense_Mutation SNP G G C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr6:31635648G>C ENST00000375880.2 + 3 194 c.76G>C c.(76-78)Gat>Cat p.D26H CSNK2B_ENST00000375866.2_Missense_Mutation_p.D26H|CSNK2B_ENST00000375882.2_Missense_Mutation_p.D26H|CSNK2B_ENST00000375885.4_Missense_Mutation_p.D45H|CSNK2B_ENST00000375865.2_Missense_Mutation_p.D26H CTGACAGGTGGATGAAGACTA 0.458000 13 20 0 0 0.093190 0 0 CLASRP 11129 broad.mit.edu 37 19 45555410 45555410 + Missense_Mutation SNP G G C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr19:45555410G>C ENST00000544944.2 + 2 873 c.181G>C c.(181-183)Gag>Cag p.E61Q CLASRP_ENST00000391953.4_Intron|CLASRP_ENST00000221455.3_Missense_Mutation_p.E61Q Q8N2M8 CLASR_HUMAN CLK4-associating serine/arginine rich protein 61 mRNA processing|RNA splicing nucleus breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1) 16 CCTGGCCGCTGAGAGCCCTGT 0.562000 4 49 0 0 0.009096 0 0 GPR4 2828 broad.mit.edu 37 19 46094975 46094975 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr19:46094975G>A ENST00000323040.4 - 2 1094 c.150C>T c.(148-150)aaC>aaT p.N50N OPA3_ENST00000544371.1_Intron NM_005282.2 NP_005273.1 P46093 GPR4_HUMAN G protein-coupled receptor 4 50 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) CGCCCAGCTCGTTGCGCTGTT 0.617000 18 46 0 0 0.038395 0 0 UBR5 51366 broad.mit.edu 37 8 103309160 103309160 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr8:103309160G>A ENST00000520539.1 - 28 4232 c.3626C>T c.(3625-3627)aCg>aTg p.T1209M UBR5_ENST00000521922.1_Missense_Mutation_p.T1203M|UBR5_ENST00000220959.4_Missense_Mutation_p.T1209M NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 1209 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TGCACATTCCGTACAACAACA 0.318000 4 33 0 0 0.014758 0 0 ACTL6B 51412 broad.mit.edu 37 7 100246281 100246281 + Silent SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr7:100246281G>A ENST00000160382.5 - 7 673 c.567C>T c.(565-567)atC>atT p.I189I NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B 189 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GGGACTTGACGATGCCTAGAA 0.597000 9 13 0 0 0.058154 0 0 NID1 4811 broad.mit.edu 37 1 236180536 236180536 + Silent SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr1:236180536C>T ENST00000264187.6 - 10 2248 c.2166G>A c.(2164-2166)ggG>ggA p.G722G NID1_ENST00000366595.3_Intron NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 722 EGF-like 3; calcium-binding (Potential). cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) TTGTGTGGCTCCCACACACTG 0.433000 18 93 0 0 0.043863 0 0 EVI5 7813 broad.mit.edu 37 1 93167729 93167729 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr1:93167729C>T ENST00000370331.1 - 5 749 c.740G>A c.(739-741)aGt>aAt p.S247N EVI5_ENST00000540033.1_Missense_Mutation_p.S247N|EVI5_ENST00000543509.1_Missense_Mutation_p.S247N NM_005665.4 NP_005656.4 O60447 EVI5_HUMAN ecotropic viral integration site 5 247 Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1) 38 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) TATAAAAGCACTTCCTTGACA 0.308000 8 34 0 0 0.058154 0 0 GLO1 2739 broad.mit.edu 37 6 38670758 38670758 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr6:38670758G>A ENST00000373365.4 - 1 159 c.73C>T c.(73-75)Ccc>Tcc p.P25S NM_006708.2 NP_006699.2 Q04760 LGUL_HUMAN glyoxalase I 25 anti-apoptosis|carbohydrate metabolic process cytoplasm lactoylglutathione lyase activity|metal ion binding lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 6 Glutathione(DB00143) TTGGTACTGGGGTCCGCGTCG 0.711000 3 23 0 0 0.009096 0 0 TPCN2 219931 broad.mit.edu 37 11 68822187 68822187 + Splice_Site SNP A A G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr11:68822187A>G ENST00000294309.3 + 3 275 c.e3-1 TPCN2_ENST00000542467.1_Splice_Site NM_139075.3 NP_620714.2 Q8NHX9 TPC2_HUMAN two pore segment channel 2 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 32 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) TTTCGCTTGTAGTACCGCTCC 0.577000 6 25 0 0 0.038147 0 0 UPF2 26019 broad.mit.edu 37 10 11973704 11973704 + Missense_Mutation SNP C C G TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr10:11973704C>G ENST00000356352.2 - 19 4097 c.3624G>C c.(3622-3624)gaG>gaC p.E1208D UPF2_ENST00000357604.5_Missense_Mutation_p.E1208D|UPF2_ENST00000397053.2_Missense_Mutation_p.E1208D Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 1208 Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) TTCTCATCCTCTCTTCTTGTT 0.373000 10 58 0 0 0.080935 0 0 BRINP3 339479 broad.mit.edu 37 1 190203579 190203579 + Missense_Mutation SNP C C T TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr1:190203579C>T ENST00000367462.3 - 5 878 c.647G>A c.(646-648)gGc>gAc p.G216D FAM5C_ENST00000534846.1_Missense_Mutation_p.G114D|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 216 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GTTACTGCAGCCAAGAGGACC 0.378000 9 51 0 0 0.069234 0 0 HCRTR1 3061 broad.mit.edu 37 1 32084929 32084931 + In_Frame_Del DEL GAG GAG - TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr1:32084929_32084931delGAG ENST00000403528.2 + 3 521_523 c.136_138delGAG c.(136-138)del p.E46del HCRTR1_ENST00000373705.1_In_Frame_Del_p.E46del|HCRTR1_ENST00000373706.5_In_Frame_Del_p.E46del|HCRTR1_ENST00000468521.1_3'UTR NM_001525.2 NP_001516.2 O43613 OX1R_HUMAN hypocretin (orexin) receptor 1 46 feeding behavior|neuropeptide signaling pathway|synaptic transmission integral to plasma membrane breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 7 Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.053) AAAACAGTATGAGTGGGTCCTCA 0.606 27 110 --- --- --- --- CNTN6 27255 broad.mit.edu 37 3 1424634 1424636 + In_Frame_Del DEL AGA AGA - TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr3:1424634_1424636delAGA ENST00000446702.2 + 18 2802_2804 c.2175_2177delAGA c.(2173-2178)cca>cc p.PE725del CNTN6_ENST00000350110.2_In_Frame_Del_p.PE725del|CNTN6_ENST00000539053.1_In_Frame_Del_p.PE653del Q9UQ52 CNTN6_HUMAN contactin 6 725 Fibronectin type-III 2. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) AGTCAATTCCAGAAGAACTGCAG 0.384 12 29 --- --- --- --- ZMIZ2 83637 broad.mit.edu 37 7 44805118 44805119 + Frame_Shift_Ins INS - - C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr7:44805118_44805119insC ENST00000309315.4 + 16 2305_2306 c.2182_2183insC c.(2182-2184)cccfs p.P728fs ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 728 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CCCCGGCGCTGCCCCCTTTGCC 0.698 3 6 --- --- --- --- MROH5 389690 broad.mit.edu 37 8 142490160 142490161 + RNA INS - - C rs58308413 by1000genomes TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr8:142490160_142490161insC ENST00000430863.1 - 0 939 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 CCTGTGCTTGACCCCCCCCAAG 0.614 5 4 --- --- --- --- DOCK8 81704 broad.mit.edu 37 9 446516 446517 + Frame_Shift_Ins INS - - CA TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr9:446516_446517insCA ENST00000432829.2 + 44 5839_5840 c.5523_5524insCA c.(5521-5526)ctatgafs p.*1842fs DOCK8_ENST00000382329.1_Frame_Shift_Ins_p.*1377fs|DOCK8_ENST00000453981.1_Frame_Shift_Ins_p.*1910fs|DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.*1810fs NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1910 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GGGGAGAGCTGCATGAGCAGTA 0.545 12 51 --- --- --- --- SPATA31D1 389763 broad.mit.edu 37 9 84606915 84606923 + In_Frame_Del DEL GCACAGCGA GCACAGCGA - TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr9:84606915_84606923delGCACAGCGA ENST00000344803.2 + 4 1577_1585 c.1530_1538delGCACAGCGA c.(1528-1539)ttg>tt p.LHSE510del NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 TCCCATCTTTGCACAGCGAGTCTCTGCAT 0.445 8 29 --- --- --- --- PAMR1 25891 broad.mit.edu 37 11 35513669 35513670 + Frame_Shift_Ins INS - - C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr11:35513669_35513670insC ENST00000378880.2 - 3 747_748 c.302_303insG c.(301-303)gacfs p.D101fs PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 101 proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 CATCCAAGGTACCCCCCCATGA 0.520 27 605 --- --- --- --- KRTAP4-9 100132386 broad.mit.edu 37 17 39261988 39261988 + Frame_Shift_Del DEL C C - TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr17:39261988delC ENST00000391415.1 + 1 405 c.348delC c.(346-348)cafs p.H116fs NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 116 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 CCTGCTGCCACCCTAGGtgct 0.652 8 12 --- --- --- --- LZTS3 9762 broad.mit.edu 37 20 3146179 3146179 + Frame_Shift_Del DEL G G - TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 4c6dc4b7-913a-4c75-9af4-c3fda9204cf1 g.chr20:3146179delG ENST00000329152.3 - 2 2684 c.1287delC c.(1285-1287)gcfs p.A429fs LZTS3_ENST00000337576.5_Frame_Shift_Del_p.A383fs|LZTS3_ENST00000360342.3_Frame_Shift_Del_p.A383fs NM_014731.2 NP_055546.1 GCAGGAAGTCGGCCTGCTCCT 0.662 20 31 --- --- --- --- ZMIZ2 83637 broad.mit.edu 37 7 44805118 44805119 + Frame_Shift_Ins INS - - C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr7:44805118_44805119insC ENST00000309315.4 + 16 2305_2306 c.2182_2183insC c.(2182-2184)cccfs p.P728fs ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.P728fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.P696fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.P670fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.P702fs NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 728 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CCCCGGCGCTGCCCCCTTTGCC 0.698 3 6 --- --- --- --- DOCK8 81704 broad.mit.edu 37 9 446516 446517 + Frame_Shift_Ins INS - - CA TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr9:446516_446517insCA ENST00000432829.2 + 44 5839_5840 c.5523_5524insCA c.(5521-5526)ctatgafs p.*1842fs DOCK8_ENST00000453981.1_Frame_Shift_Ins_p.*1910fs|DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.*1810fs|DOCK8_ENST00000382329.1_Frame_Shift_Ins_p.*1377fs NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1910 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GGGGAGAGCTGCATGAGCAGTA 0.545 12 51 --- --- --- --- SPATA31D1 389763 broad.mit.edu 37 9 84606915 84606923 + In_Frame_Del DEL GCACAGCGA GCACAGCGA - TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr9:84606915_84606923delGCACAGCGA ENST00000344803.2 + 4 1577_1585 c.1530_1538delGCACAGCGA c.(1528-1539)ttg>tt p.LHSE510del NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 TCCCATCTTTGCACAGCGAGTCTCTGCAT 0.445 8 29 --- --- --- --- PAMR1 25891 broad.mit.edu 37 11 35513669 35513670 + Frame_Shift_Ins INS - - C TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr11:35513669_35513670insC ENST00000378880.2 - 3 747_748 c.302_303insG c.(301-303)gacfs p.D101fs PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000534803.1_5'UTR NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 101 proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 CATCCAAGGTACCCCCCCATGA 0.520 27 605 --- --- --- --- KRTAP4-9 100132386 broad.mit.edu 37 17 39261988 39261988 + Frame_Shift_Del DEL C C - TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx a99653e0-2751-4423-93f7-abcf258c9868 0d495571-2b44-458d-9c80-58a9e13d1ccc g.chr17:39261988delC ENST00000391415.1 + 1 405 c.348delC c.(346-348)cafs p.H116fs NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 116 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 CCTGCTGCCACCCTAGGtgct 0.652 8 12 --- --- --- ---