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 KIF1B 23095 broad.mit.edu 37 1 10364265 10364265 + Missense_Mutation SNP G G A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr1:10364265G>A ENST00000377093.4 + 21 3175 c.3022G>A c.(3022-3024)Ggg>Agg p.G1008R KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.G1008R|KIF1B_ENST00000377086.1_Intron NM_183416.3 NP_904325.2 O60333 KIF1B_HUMAN kinesin family member 1B 0 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) CCAAGAAAAAGGGGGTAAAGG 0.413 7 151 --- --- --- --- OMA1 115209 broad.mit.edu 37 1 59004846 59004846 + Missense_Mutation SNP C C G TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr1:59004846C>G ENST00000371226.3 - 2 234 c.121G>C c.(121-123)Gta>Cta p.V41L DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Missense_Mutation_p.V41L|OMA1_ENST00000467063.1_Intron NM_145243.3 NP_660286.1 Q96E52 OMA1_HUMAN OMA1 zinc metallopeptidase 41 proteolysis integral to membrane|mitochondrial membrane metal ion binding|metalloendopeptidase activity NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1) 18 all_cancers(7;6.54e-05) TTAACTTGTACTTGATGACAG 0.393 13 149 --- --- --- --- ANAPC1 64682 broad.mit.edu 37 2 112605385 112605385 + Missense_Mutation SNP G G A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr2:112605385G>A ENST00000341068.3 - 15 2480 c.1708C>T c.(1708-1710)Ctc>Ttc p.L570F NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 570 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 TCATTATAGAGAGAATCATGA 0.363 8 168 --- --- --- --- PTPN4 5775 broad.mit.edu 37 2 120567452 120567452 + Missense_Mutation SNP C C G TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr2:120567452C>G ENST00000263708.2 + 2 794 c.23C>G c.(22-24)cCt>cGt p.P8R PTPN4_ENST00000460162.1_3'UTR NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 8 cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) TTCCGATTGCCTGCTGGCAGA 0.388 36 54 --- --- --- --- LY75 4065 broad.mit.edu 37 2 160665083 160665083 + Splice_Site SNP C C A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr2:160665083C>A ENST00000263636.4 - 33 4727 c.e33-1 LY75_ENST00000554112.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) GCAGAGTGATCTGTTGAAAGA 0.313 10 39 --- --- --- --- SLC38A11 151258 broad.mit.edu 37 2 165755002 165755002 + Missense_Mutation SNP G G C TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr2:165755002G>C ENST00000303735.4 - 10 1430 c.1100C>G c.(1099-1101)tCt>tGt p.S367C SLC38A11_ENST00000409058.1_Missense_Mutation_p.S420C|SLC38A11_ENST00000409662.1_Missense_Mutation_p.S389C|SLC38A11_ENST00000409149.3_Missense_Mutation_p.S389C NM_173512.2 NP_775783.1 Q08AI6 S38AB_HUMAN solute carrier family 38, member 11 389 amino acid transport|sodium ion transport integral to membrane endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 CTGAACATGAGACTCTGAGGT 0.353 3 53 --- --- --- --- SLC39A10 57181 broad.mit.edu 37 2 196545261 196545261 + Silent SNP A A G TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr2:196545261A>G ENST00000409086.3 + 2 770 c.495A>G c.(493-495)aaA>aaG p.K165K SLC39A10_ENST00000359634.5_Silent_p.K165K|SLC39A10_ENST00000541054.1_Intron NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 165 His-rich. zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) TGTCTGTAAAATCTGATGATA 0.348 14 89 --- --- --- --- CLK1 1195 broad.mit.edu 37 2 201724917 201724917 + Missense_Mutation SNP T T C TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr2:201724917T>C ENST00000434813.2 - 4 872 c.538A>G c.(538-540)Acc>Gcc p.T180A CLK1_ENST00000321356.4_Missense_Mutation_p.T138A NM_001162407.1 NP_001155879.1 P49759 CLK1_HUMAN CDC-like kinase 1 138 Protein kinase. cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 ACACTCCTGGTTCTTTTCCTT 0.438 6 83 --- --- --- --- SPEG 10290 broad.mit.edu 37 2 220334050 220334050 + Missense_Mutation SNP T T C TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr2:220334050T>C ENST00000312358.7 + 13 3796 c.3664T>C c.(3664-3666)Ttc>Ctc p.F1222L SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1222 Ig-like 6. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CATCAGCTGGTTCCACAATGG 0.642 3 22 --- --- --- --- TBC1D1 23216 broad.mit.edu 37 4 38097623 38097623 + Silent SNP A A G TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr4:38097623A>G ENST00000261439.4 + 14 2665 c.2310A>G c.(2308-2310)gtA>gtG p.V770V TBC1D1_ENST00000508802.1_Silent_p.V864V NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 770 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 TTAAAGAAGTAACTACAGTGT 0.413 6 116 --- --- --- --- FILIP1 27145 broad.mit.edu 37 6 76022612 76022612 + Missense_Mutation SNP G G A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr6:76022612G>A ENST00000393004.2 - 5 3157 c.2936C>T c.(2935-2937)tCc>tTc p.S979F FILIP1_ENST00000370020.1_Missense_Mutation_p.S880F|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.S979F Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 979 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TGTGACTGGGGACATGGCTCG 0.448 8 171 --- --- --- --- FNDC1 84624 broad.mit.edu 37 6 159654416 159654416 + Missense_Mutation SNP G G A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr6:159654416G>A ENST00000297267.9 + 11 3072 c.2872G>A c.(2872-2874)Gcg>Acg p.A958T FNDC1_ENST00000340366.6_Missense_Mutation_p.A895T NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 958 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GAGCACAGACGCGGACACGGA 0.622 4 27 --- --- --- --- POM121 9883 broad.mit.edu 37 7 72398976 72398976 + Missense_Mutation SNP A A G rs147859349 TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr7:72398976A>G ENST00000395270.1 + 7 1322 c.281A>G c.(280-282)aAt>aGt p.N94S POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 359 Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) CTGGTGGCCAATGGAGTCCCC 0.468 7 208 --- --- --- --- TRBV7-4 28594 broad.mit.edu 37 7 142176782 142176782 + RNA SNP G G T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr7:142176782G>T ENST00000390369.2 - 0 8 AGAGGAGCCTGGTGCCCATGG 0.552 4 87 --- --- --- --- UBR5 51366 broad.mit.edu 37 8 103291134 103291134 + Missense_Mutation SNP G G T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr8:103291134G>T ENST00000520539.1 - 44 6814 c.6208C>A c.(6208-6210)Cca>Aca p.P2070T UBR5_ENST00000220959.4_Missense_Mutation_p.P2070T|UBR5_ENST00000521922.1_Missense_Mutation_p.P2064T NM_001282873.1|NM_015902.5 NP_001269802.1|NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2070 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) CCCTGACTTGGACGGCCAAAA 0.353 5 146 --- --- --- --- MRPL13 28998 broad.mit.edu 37 8 121426335 121426335 + Missense_Mutation SNP A A C TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr8:121426335A>C ENST00000306185.3 - 6 701 c.410T>G c.(409-411)aTt>aGt p.I137S NM_014078.5 NP_054797.2 Q9BYD1 RM13_HUMAN mitochondrial ribosomal protein L13 137 translation mitochondrial large ribosomal subunit protein binding|structural constituent of ribosome central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 6 Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) ATTCTTAAGAATATCTTCTGG 0.289 8 23 --- --- --- --- NIPSNAP3B 55335 broad.mit.edu 37 9 107528754 107528754 + Missense_Mutation SNP T T C TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr9:107528754T>C ENST00000374762.3 + 2 280 c.209T>C c.(208-210)gTt>gCt p.V70A NIPSNAP3B_ENST00000461177.1_Intron NM_018376.2 NP_060846.2 Q9BS92 NPS3B_HUMAN nipsnap homolog 3B (C. elegans) 70 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 11 TCTGAATTGGTTGGATTCTGG 0.328 10 111 --- --- --- --- PAPPA 5069 broad.mit.edu 37 9 119106933 119106933 + Silent SNP C C T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr9:119106933C>T ENST00000328252.3 + 14 4092 c.3723C>T c.(3721-3723)agC>agT p.S1241S PAPPA_ENST00000534838.1_Silent_p.S279S NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1241 Sushi 1. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GTACTGTGAGCTGCCGGACAG 0.582 4 83 --- --- --- --- C10orf10 11067 broad.mit.edu 37 10 45473237 45473237 + Missense_Mutation SNP G G T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr10:45473237G>T ENST00000298295.3 - 2 459 c.242C>A c.(241-243)tCc>tAc p.S81Y RASSF4_ENST00000340258.5_Intron|RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron|C10orf10_ENST00000496638.1_Intron NM_007021.3 NP_008952.1 Q9NTK1 DEPP_HUMAN chromosome 10 open reading frame 10 81 mitochondrion lung(1) 1 GTCTCGCAGGGACACAGCAGG 0.672 10 66 --- --- --- --- OR52E2 119678 broad.mit.edu 37 11 5080816 5080816 + Silent SNP G G A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr11:5080816G>A ENST00000321522.2 - 1 41 c.42C>T c.(40-42)ttC>ttT p.F14F NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) CCAGCAACAGGAAGGAGGAGG 0.483 4 44 --- --- --- --- APOA4 337 broad.mit.edu 37 11 116692051 116692051 + Silent SNP C C T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr11:116692051C>T ENST00000357780.3 - 3 837 c.723G>A c.(721-723)ctG>ctA p.L241L NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) TCTGGAAGGTCAGGCCCTCAA 0.632 21 133 --- --- --- --- ZNF830 91603 broad.mit.edu 37 17 33289179 33289179 + Silent SNP G G T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr17:33289179G>T ENST00000361952.3 + 1 631 c.594G>T c.(592-594)cgG>cgT p.R198R NM_052857.3 NP_443089.3 Q96NB3 ZN830_HUMAN zinc finger protein 830 198 cell division|mitosis cytoplasm|nucleus metal ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(249;0.17) CCTCTTCACGGGAGGTAACAA 0.507 3 36 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696450 47696450 + Missense_Mutation SNP A A T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr17:47696450A>T ENST00000393331.3 - 7 843 c.373T>A c.(373-375)Ttt>Att p.F125I SPOP_ENST00000347630.2_Missense_Mutation_p.F125I|SPOP_ENST00000503676.1_Missense_Mutation_p.F125I|SPOP_ENST00000504102.1_Missense_Mutation_p.F125I|SPOP_ENST00000393328.2_Missense_Mutation_p.F125I NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 125 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F125V(1) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 CCTTGCACAAACCTATATGCC 0.433 Prostate(2;0.17) 46 88 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9006353 9006353 + Missense_Mutation SNP G G T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr19:9006353G>T ENST00000397910.4 - 45 39868 c.39665C>A c.(39664-39666)aCc>aAc p.T13222N NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13224 SEA 8. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCTGAGCAAGGTCAGTCTGCA 0.502 4 122 --- --- --- --- PGLYRP2 114770 broad.mit.edu 37 19 15587012 15587012 + Missense_Mutation SNP C C A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr19:15587012C>A ENST00000292609.4 - 2 598 c.469G>T c.(469-471)Gat>Tat p.D157Y PGLYRP2_ENST00000340880.4_Missense_Mutation_p.D157Y Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 157 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 GCCACAACATCTGGAAAGGTA 0.582 10 54 --- --- --- --- ARHGEF1 9138 broad.mit.edu 37 19 42396405 42396405 + Missense_Mutation SNP C C A TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr19:42396405C>A ENST00000599846.1 + 6 453 c.328C>A c.(328-330)Ctc>Atc p.L110I ARHGEF1_ENST00000596957.1_3'UTR|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.L92I|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.L125I|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.L77I|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.L110I Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 110 RGSL. cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) TGAGCAGGTTCTCCGGGTGCC 0.612 5 134 --- --- --- --- SNPH 9751 broad.mit.edu 37 20 1281299 1281299 + Silent SNP G G T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr20:1281299G>T ENST00000381867.1 + 6 1026 c.384G>T c.(382-384)gtG>gtT p.V128V SNPH_ENST00000381873.3_Silent_p.V84V O15079 SNPH_HUMAN syntaphilin 84 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 AGAAGGAGGTGTGCATCCGGC 0.652 7 36 --- --- --- --- PROKR2 128674 broad.mit.edu 37 20 5283271 5283271 + Nonsense_Mutation SNP G G T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 Untested Somatic Phase_I WXS none Illumina GAIIx 18fadec2-995f-42b3-9f32-ac72d2670608 4756e8c9-7e46-469b-9b86-7683252186f5 g.chr20:5283271G>T ENST00000546004.1 - 3 816 c.570C>A c.(568-570)taC>taA p.Y190* PROKR2_ENST00000217270.3_Nonsense_Mutation_p.Y190* Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 190 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 CTGTTGCAAAGTAAGCCGATG 0.498 HNSCC(71;0.22) 6 123 --- --- --- ---