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 ACTRT2 140625 broad.mit.edu 37 1 2938845 2938845 + Missense_Mutation SNP G T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr1:2938845G>T uc001ajz.2 + 1 800 c.595G>T c.(595-597)GCC>TCC p.A199S NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN actin-related protein M2 199 cytoplasm|cytoskeleton 0 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) GCTGCTCCTGGCCAGCGGCCA 0.617 TPRG1L 127262 broad.mit.edu 37 1 3545150 3545150 + Missense_Mutation SNP G A A TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr1:3545150G>A uc001akm.2 + 5 883 c.802G>A c.(802-804)GGC>AGC p.G268S TPRG1L_uc009vlj.2_Missense_Mutation_p.G209S NM_182752 NP_877429 Q5T0D9 TPRGL_HUMAN tumor protein p63 regulated 1-like 268 cell junction|synaptic vesicle 0 all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172) all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201) CATGACCAGGGGCAAAATAGG 0.612 PCSK9 255738 broad.mit.edu 37 1 55523733 55523733 + Missense_Mutation SNP C T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr1:55523733C>T uc001cyf.1 + 8 1496 c.1205C>T c.(1204-1206)GCC>GTC p.A402V PCSK9_uc010oom.1_RNA NM_174936 NP_777596 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 402 Peptidase S8. cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding ovary(2)|central_nervous_system(1)|skin(1) 4 ATGCTGTCTGCCGAGCCGGAG 0.602 ADAM30 11085 broad.mit.edu 37 1 120436835 120436835 + Missense_Mutation SNP G A A TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr1:120436835G>A uc001eij.2 - 1 2279 c.2125C>T c.(2125-2127)CGG>TGG p.R709W NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 preproprotein 709 Cytoplasmic (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) ATCACTTGCCGGAAAAACACA 0.393 PDC 5132 broad.mit.edu 37 1 186413476 186413476 + Missense_Mutation SNP T G G TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr1:186413476T>G uc001gsa.2 - 4 449 c.376A>C c.(376-378)ACA>CCA p.T126P PDC_uc001grz.2_Missense_Mutation_p.T74P NM_002597 NP_002588 P20941 PHOS_HUMAN phosducin isoform a 126 G-protein coupled receptor protein signaling pathway|phototransduction|visual perception actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment phospholipase inhibitor activity skin(1) 1 Breast(1374;1.53e-05) KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129) TTTTCAATTGTTTCTAGGAAT 0.398 RYR2 6262 broad.mit.edu 37 1 237550598 237550598 + Silent SNP C T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr1:237550598C>T uc001hyl.1 + 9 714 c.594C>T c.(592-594)AAC>AAT p.N198N NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 198 Cytoplasmic (By similarity).|MIR 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTTATGGCAACGGCAGCTTAC 0.498 ZMIZ1 57178 broad.mit.edu 37 10 81066012 81066012 + Missense_Mutation SNP A C C TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr10:81066012A>C uc001kaf.2 + 22 3151 c.2579A>C c.(2578-2580)GAG>GCG p.E860A ZMIZ1_uc001kag.2_Missense_Mutation_p.E736A|ZMIZ1_uc010qlq.1_Missense_Mutation_p.E13A NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN retinoic acid induced 17 860 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding ovary(2)|breast(1)|skin(1) 4 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) AATGTCATGGAGATGATCGCA 0.612 PTEN 5728 broad.mit.edu 37 10 89690814 89690814 + Missense_Mutation SNP G C C TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr10:89690814G>C uc001kfb.2 + 5 1252 c.221G>C c.(220-222)AGA>ACA p.R74T NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 74 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.L70fs*7(4)|p.R55fs*1(4)|p.?(2)|p.C71fs*6(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.R74I(1)|p.E73fs*25(1)|p.R74fs*25(1)|p.F56fs*2(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TGTGCTGAAAGACATTATGAC 0.274 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) PRLHR 2834 broad.mit.edu 37 10 120354176 120354176 + Missense_Mutation SNP G A A TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr10:120354176G>A uc001ldp.1 - 2 720 c.581C>T c.(580-582)GCC>GTC p.A194V NM_004248 NP_004239 P49683 PRLHR_HUMAN G protein-coupled receptor 10 194 Helical; Name=4; (Potential). A -> P (in Ref. 1; AAC50504). female pregnancy integral to plasma membrane neuropeptide Y receptor activity 0 Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0166) GTGCACGGCGGCGGGCAGCGC 0.716 INPP5A 3632 broad.mit.edu 37 10 134523875 134523875 + Missense_Mutation SNP G C C TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr10:134523875G>C uc001llp.2 + 8 810 c.562G>C c.(562-564)GAT>CAT p.D188H INPP5A_uc001llo.1_Missense_Mutation_p.D188H|INPP5A_uc001llq.2_Missense_Mutation_p.D140H NM_005539 NP_005530 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase A 188 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding skin(1) 1 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) TCTTTTCCATGATGCTTCCAA 0.488 BBOX1 8424 broad.mit.edu 37 11 27114719 27114719 + Silent SNP C T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr11:27114719C>T uc001mre.1 + 5 707 c.339C>T c.(337-339)TGC>TGT p.C113C BBOX1_uc009yih.1_Silent_p.C113C|BBOX1_uc001mrg.1_Silent_p.C113C NM_003986 NP_003977 O75936 BODG_HUMAN gamma-butyrobetaine dioxygenase 113 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Succinic acid(DB00139)|Vitamin C(DB00126) TCACAGAATGCCAATACTGGG 0.393 SYT13 57586 broad.mit.edu 37 11 45274269 45274269 + Silent SNP C A A TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr11:45274269C>A uc001myq.2 - 4 675 c.549G>T c.(547-549)GTG>GTT p.V183V SYT13_uc009yku.1_Silent_p.V39V NM_020826 NP_065877 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 183 Cytoplasmic (Potential).|C2 1. transport vesicle ovary(1) 1 GGTTGCTGGTCACAGCTGCAG 0.587 OREG0020928 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KCTD14 65987 broad.mit.edu 37 11 77728030 77728030 + Missense_Mutation SNP G A A TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr11:77728030G>A uc001oyw.3 - 2 402 c.377C>T c.(376-378)CCA>CTA p.P126L NM_023930 NP_076419 Q9BQ13 KCD14_HUMAN potassium channel tetramerisation domain 126 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2) 2 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) AAAGATCTGTGGCATGTCCTC 0.567 KDM4D 55693 broad.mit.edu 37 11 94731105 94731105 + Missense_Mutation SNP C T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr11:94731105C>T uc001pfe.2 + 3 1401 c.569C>T c.(568-570)GCT>GTT p.A190V NM_018039 NP_060509 Q6B0I6 KDM4D_HUMAN jumonji domain containing 2D 190 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 ACCACGTTTGCTTGGCATACA 0.512 MLL 4297 broad.mit.edu 37 11 118359396 118359396 + Missense_Mutation SNP T C C TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr11:118359396T>C uc001pta.2 + 11 4423 c.4400T>C c.(4399-4401)CTG>CCG p.L1467P MLL_uc001ptb.2_Missense_Mutation_p.L1467P|MLL_uc001pte.1_RNA NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1467 PHD-type 1. apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GAGCGCCCTCTGGAGGACCAG 0.433 T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL OR4D5 219875 broad.mit.edu 37 11 123810626 123810626 + Silent SNP C T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr11:123810626C>T uc001pzk.1 + 1 303 c.303C>T c.(301-303)CTC>CTT p.L101L NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 101 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TGACTCAACTCTTCTTCTTCC 0.507 OR10S1 219873 broad.mit.edu 37 11 123847863 123847863 + Missense_Mutation SNP C T T rs141270826 TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr11:123847863C>T uc001pzm.1 - 1 536 c.536G>A c.(535-537)CGC>CAC p.R179H NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, 179 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GTAGAGCAGGCGGAAGGTGAG 0.552 PATE2 399967 broad.mit.edu 37 11 125648646 125648646 + Missense_Mutation SNP C T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr11:125648646C>T uc001qcu.2 - 1 69 c.23G>A c.(22-24)GGC>GAC p.G8D PATE2_uc010sbj.1_Missense_Mutation_p.G8D NM_212555 NP_997720 Q6UY27 PATE2_HUMAN prostate and testis expressed 2 precursor 8 extracellular space 0 AAAGACTGTGCCCAGGAGAAA 0.522 ANO2 57101 broad.mit.edu 37 12 5687643 5687643 + Missense_Mutation SNP G C C TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr12:5687643G>C uc001qnm.2 - 22 2347 c.2275C>G c.(2275-2277)CCC>GCC p.P759A NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 764 Helical; (Potential). chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 GGTGCCAGGGGAAAGGAGGCC 0.537 MLL2 8085 broad.mit.edu 37 12 49432573 49432573 + Missense_Mutation SNP C G G TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr12:49432573C>G uc001rta.3 - 34 8566 c.8566G>C c.(8566-8568)GGA>CGA p.G2856R NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2856 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GTGGAAATTCCCGCCAACGGG 0.557 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) CALCOCO1 57658 broad.mit.edu 37 12 54105903 54105903 + Missense_Mutation SNP C G G TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr12:54105903C>G uc001sef.2 - 15 2045 c.1901G>C c.(1900-1902)GGC>GCC p.G634A CALCOCO1_uc001see.2_Missense_Mutation_p.G159A|CALCOCO1_uc010som.1_Missense_Mutation_p.G549A|CALCOCO1_uc010son.1_Missense_Mutation_p.G511A|CALCOCO1_uc001seh.2_3'UTR|CALCOCO1_uc009znd.2_Missense_Mutation_p.G633A|CALCOCO1_uc001seg.2_Missense_Mutation_p.G459A NM_020898 NP_065949 Q9P1Z2 CACO1_HUMAN coiled-coil transcriptional coactivator isoform 634 C-terminal AD (CTNNB1 binding site) (By similarity). steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding ovary(1) 1 CACTGTAAAGCCACTAAGAGA 0.577 SUOX 6821 broad.mit.edu 37 12 56398139 56398139 + Missense_Mutation SNP C G G TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr12:56398139C>G uc001six.2 + 6 1292 c.966C>G c.(964-966)GAC>GAG p.D322E SUOX_uc001siy.2_Missense_Mutation_p.D322E|SUOX_uc001siz.2_Missense_Mutation_p.D322E|SUOX_uc001sja.2_Missense_Mutation_p.D322E NM_000456 NP_000447 P51687 SUOX_HUMAN sulfite oxidase precursor 322 Molybdenum-pterin domain (By similarity).|Molybdenum-pterin-binding (By similarity). mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity 0 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) AGGGACTGGACTCAGACCCTA 0.607 LRRIQ1 84125 broad.mit.edu 37 12 85450952 85450952 + Missense_Mutation SNP C G G TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr12:85450952C>G uc001tac.2 + 8 2492 c.2381C>G c.(2380-2382)ACT>AGT p.T794S LRRIQ1_uc001tab.1_Missense_Mutation_p.T794S|LRRIQ1_uc001taa.1_Missense_Mutation_p.T769S NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 794 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) CCTTGGGATACTTTACAGCAG 0.313 ISCU 23479 broad.mit.edu 37 12 108962628 108962628 + Missense_Mutation SNP A G G TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr12:108962628A>G uc010sxc.1 + 5 545 c.440A>G c.(439-441)AAG>AGG p.K147R ISCU_uc010sxb.1_3'UTR|ISCU_uc001tnc.3_Missense_Mutation_p.K122R|ISCU_uc009zuy.2_3'UTR|ISCU_uc010sxd.1_3'UTR NM_213595 NP_998760 Q9H1K1 ISCU_HUMAN iron-sulfur cluster assembly enzyme isoform 147 iron-sulfur cluster assembly|nitrogen fixation cytosol|mitochondrion|nucleus iron ion binding|iron-sulfur cluster binding|protein complex scaffold 0 GATGCAATCAAGGCCGCCCTG 0.478 HNF1A 6927 broad.mit.edu 37 12 121426701 121426701 + Missense_Mutation SNP G T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr12:121426701G>T uc001tzg.2 + 2 415 c.392G>T c.(391-393)CGG>CTG p.R131L HNF1A_uc001tze.1_Missense_Mutation_p.R131L|HNF1A_uc001tzf.2_Missense_Mutation_p.R131L|HNF1A_uc010szn.1_Missense_Mutation_p.R131L NM_000545 NP_000536 P20823 HNF1A_HUMAN hepatic nuclear factor-1-alpha 131 Interaction with DNA. R -> Q (in MODY3; expected to interfere with DNA binding).|R -> W (in MODY3; expected to interfere with DNA binding). glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.R131W(1) liver(92)|large_intestine(15)|endometrium(6)|breast(2)|lung(1) 116 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ATCCCACAGCGGGAGGTGGTC 0.622 Hepatic_Adenoma_Familial_Clustering_of GOLGA3 2802 broad.mit.edu 37 12 133383767 133383767 + Missense_Mutation SNP C T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr12:133383767C>T uc001ukz.1 - 6 1845 c.1286G>A c.(1285-1287)AGT>AAT p.S429N GOLGA3_uc001ula.1_Missense_Mutation_p.S429N|GOLGA3_uc001ulb.2_Missense_Mutation_p.S429N NM_005895 NP_005886 Q08378 GOGA3_HUMAN Golgi autoantigen, golgin subfamily a, 3 429 Potential. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) CGTTACCTGACTCGCCTCCAG 0.547 GSX1 219409 broad.mit.edu 37 13 28367747 28367747 + Missense_Mutation SNP G A A TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr13:28367747G>A uc001urr.1 + 2 505 c.457G>A c.(457-459)GCT>ACT p.A153T NM_145657 NP_663632 Q9H4S2 GSX1_HUMAN GS homeobox 1 153 Homeobox. positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(185;0.0161) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) GATGCGCACGGCTTTCACCAG 0.577 NBEA 26960 broad.mit.edu 37 13 35883701 35883701 + Missense_Mutation SNP G C C TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr13:35883701G>C uc001uvb.2 + 36 6081 c.5875G>C c.(5875-5877)GCA>CCA p.A1959P NBEA_uc010abi.2_Missense_Mutation_p.A615P NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 1959 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TGCAGGACTTGCATTTATTGA 0.343 RNF31 55072 broad.mit.edu 37 14 24620756 24620756 + Missense_Mutation SNP G C C TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr14:24620756G>C uc001wmn.1 + 10 2049 c.1800G>C c.(1798-1800)CAG>CAC p.Q600H RNF31_uc001wml.1_Missense_Mutation_p.Q449H|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.Q359H|RNF31_uc001wmo.1_Missense_Mutation_p.Q67H|RNF31_uc001wmp.2_RNA NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 600 Interaction with RBCK1.|UBA. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00861) CATTGTTCCAGCACGGAGGTG 0.627 GPR65 8477 broad.mit.edu 37 14 88477519 88477519 + Missense_Mutation SNP G A A rs142375010 byFrequency TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr14:88477519G>A uc001xvv.2 + 2 858 c.328G>A c.(328-330)GTT>ATT p.V110I NM_003608 NP_003599 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 110 Helical; Name=3; (Potential). actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity 0 CTGCATTGCCGTTGATCGGTA 0.433 AHNAK2 113146 broad.mit.edu 37 14 105405535 105405535 + Missense_Mutation SNP G A A TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr14:105405535G>A uc010axc.1 - 7 16373 c.16253C>T c.(16252-16254)GCC>GTC p.A5418V AHNAK2_uc001ypx.2_Missense_Mutation_p.A5318V NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5418 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ATCAATATTGGCCTCTGGACA 0.557 SECISBP2L 9728 broad.mit.edu 37 15 49284790 49284790 + Missense_Mutation SNP C T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr15:49284790C>T uc001zxe.1 - 18 3091 c.2957G>A c.(2956-2958)GGC>GAC p.G986D SECISBP2L_uc001zxd.1_Missense_Mutation_p.G941D NM_014701 NP_055516 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 986 breast(1)|skin(1) 2 ttcAAGCATGCCAGGTACAAG 0.383 SLC27A2 11001 broad.mit.edu 37 15 50497504 50497504 + Missense_Mutation SNP G A A rs141444028 TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr15:50497504G>A uc001zxw.2 + 4 1148 c.916G>A c.(916-918)GTC>ATC p.V306I SLC27A2_uc010bes.2_Missense_Mutation_p.V253I|SLC27A2_uc001zxx.2_Missense_Mutation_p.V71I NM_003645 NP_003636 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid 306 Cytoplasmic (Potential). bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity ovary(1)|skin(1) 2 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) AAAATACAACGTCACTGTCAT 0.428 C15orf39 56905 broad.mit.edu 37 15 75501019 75501019 + Missense_Mutation SNP C T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr15:75501019C>T uc002azp.3 + 2 2950 c.2630C>T c.(2629-2631)ACG>ATG p.T877M C15orf39_uc002azq.3_Missense_Mutation_p.T877M|C15orf39_uc002azr.3_Missense_Mutation_p.T275M NM_015492 NP_056307 Q6ZRI6 CO039_HUMAN hypothetical protein LOC56905 877 0 CGGCCCACCACGCTGTCGGAG 0.667 C15orf27 123591 broad.mit.edu 37 15 76484332 76484332 + Silent SNP G A A TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr15:76484332G>A uc002bbq.2 + 9 947 c.792G>A c.(790-792)GCG>GCA p.A264A C15orf27_uc010bkp.2_Silent_p.A80A|C15orf27_uc002bbr.2_Silent_p.A80A|C15orf27_uc002bbs.2_5'UTR NM_152335 NP_689548 Q2M3C6 CO027_HUMAN hypothetical protein LOC123591 264 Potential. integral to membrane 0 AGCTGCGCGCGCACCTGGCGC 0.716 LOC645752 645752 broad.mit.edu 37 15 78207893 78207893 + Missense_Mutation SNP C T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr15:78207893C>T uc010bky.2 - 17 1869 c.1105G>A c.(1105-1107)GTG>ATG p.V369M LOC645752_uc010umq.1_Missense_Mutation_p.V16M|uc002bcw.1_5'Flank|uc002bcx.1_5'Flank NR_027024 SubName: Full=GOLGA6 protein; Flags: Fragment; 0 AGCAGATTCACCTGAAGGGAG 0.622 ZNF668 79759 broad.mit.edu 37 16 31072650 31072650 + Silent SNP C T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr16:31072650C>T uc010caf.2 - 3 1956 c.1599G>A c.(1597-1599)CGG>CGA p.R533R ZNF668_uc002eao.2_Silent_p.R533R NM_024706 NP_078982 Q96K58 ZN668_HUMAN zinc finger protein 668 533 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4) 4 AGCGCTCGTGCCGACGCAGCA 0.672 CPNE7 27132 broad.mit.edu 37 16 89655119 89655119 + Missense_Mutation SNP C T T rs145109453 TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr16:89655119C>T uc002fnp.2 + 12 1319 c.1189C>T c.(1189-1191)CGG>TGG p.R397W CPNE7_uc002fnq.2_Missense_Mutation_p.R322W NM_014427 NP_055242 Q9UBL6 CPNE7_HUMAN copine 7 isoform b 397 VWFA. lipid metabolic process transporter activity 0 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) TGGAGACCCGCGGAACAGCTG 0.647 NF1 4763 broad.mit.edu 37 17 29508778 29508778 + Nonsense_Mutation SNP C G G TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr17:29508778C>G uc002hgg.2 + 7 1038 c.705C>G c.(703-705)TAC>TAG p.Y235* NF1_uc002hge.1_Nonsense_Mutation_p.Y235*|NF1_uc002hgf.1_Nonsense_Mutation_p.Y235*|NF1_uc002hgh.2_Nonsense_Mutation_p.Y235*|NF1_uc010csn.1_Nonsense_Mutation_p.Y95* NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 235 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CAAAACTGTACCAGATCCCAC 0.313 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) SLC4A1 6521 broad.mit.edu 37 17 42330723 42330723 + Missense_Mutation SNP G C C TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr17:42330723G>C uc002igf.3 - 17 2223 c.2074C>G c.(2074-2076)CCT>GCT p.P692A NM_000342 NP_000333 P02730 B3AT_HUMAN solute carrier family 4, anion exchanger, member 692 Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) TTGCGCTCAGGTTTGCTGACA 0.612 Unknown 0 broad.mit.edu 37 17 78282912 78282912 + Nonsense_Mutation SNP G T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr17:78282912G>T uc002jyf.2 + 14 2739 c.2596G>T c.(2596-2598)GAG>TAG p.E866* uc002jyg.1_Nonsense_Mutation_p.E597* NM_020954 NP_066005 hypothetical protein LOC57714 TAAGTTTTACGAGCTGCCAGC 0.502 CNDP2 55748 broad.mit.edu 37 18 72167228 72167228 + Missense_Mutation SNP T C C TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr18:72167228T>C uc002llm.1 + 2 182 c.20T>C c.(19-21)CTG>CCG p.L7P CNDP2_uc002lln.1_Missense_Mutation_p.L7P|CNDP2_uc002llo.2_Missense_Mutation_p.L7P NM_018235 NP_060705 Q96KP4 CNDP2_HUMAN CNDP dipeptidase 2 7 cytoplasm carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity ovary(2)|skin(1) 3 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.22) CTCACTACCCTGTTTAAGTAC 0.458 ITPKC 80271 broad.mit.edu 37 19 41245286 41245286 + Missense_Mutation SNP G C C TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr19:41245286G>C uc002oot.2 + 7 1906 c.1873G>C c.(1873-1875)GTG>CTG p.V625L NM_025194 NP_079470 Q96DU7 IP3KC_HUMAN inositol 1,4,5-trisphosphate 3-kinase C 625 cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity 0 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CCTCCTCTTCGTGCACGACCA 0.617 SIGLEC5 8778 broad.mit.edu 37 19 52132644 52132644 + Missense_Mutation SNP T A A TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr19:52132644T>A uc002pxe.2 - 3 806 c.667A>T c.(667-669)ACC>TCC p.T223S NM_003830 NP_003821 O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 precursor 223 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion integral to membrane sugar binding skin(2)|breast(1)|central_nervous_system(1) 4 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) CTCTCCGTGGTCACCTGAGCT 0.582 LILRA6 79168 broad.mit.edu 37 19 54744985 54744985 + Missense_Mutation SNP G T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr19:54744985G>T uc002qeu.1 - 5 801 c.677C>A c.(676-678)TCC>TAC p.S226Y LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Missense_Mutation_p.S226Y|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Missense_Mutation_p.S226Y|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.S226Y|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.S226Y|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Missense_Mutation_p.S226Y|LILRA6_uc010yeq.1_Missense_Mutation_p.S226Y|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Missense_Mutation_p.S87Y NM_024318 NP_077294 Q6PI73 LIRA6_HUMAN leukocyte immunoglobulin-like receptor, 226 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane receptor activity skin(2) 2 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGTCAGGAGGGAGGGCTTCCT 0.632 ZNF460 10794 broad.mit.edu 37 19 57802944 57802944 + Missense_Mutation SNP C G G TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr19:57802944C>G uc002qog.2 + 3 1357 c.1035C>G c.(1033-1035)TTC>TTG p.F345L ZNF460_uc010ygv.1_Missense_Mutation_p.F304L NM_006635 NP_006626 Q14592 ZN460_HUMAN zinc finger protein 460 345 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGAAGGCCTTCAACTGCAGGT 0.488 APOB 338 broad.mit.edu 37 2 21227177 21227177 + Silent SNP G A A rs12713501 byFrequency TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr2:21227177G>A uc002red.2 - 28 12179 c.12051C>T c.(12049-12051)GAC>GAT p.D4017D NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 4017 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TAGAAAAGTCGTCATCTTCAT 0.512 WASH2P 375260 broad.mit.edu 37 2 114356239 114356239 + Silent SNP T C C TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr2:114356239T>C uc002tkh.2 + 6 775 c.717T>C c.(715-717)CGT>CGC p.R239R WASH2P_uc002tka.2_RNA|WASH2P_uc002tkb.2_RNA|WASH2P_uc002tkd.2_RNA NM_182905 NP_878908 WAS protein family homolog 1 0 CCTTTGCCCGTGTGTCAGACT 0.642 LCT 3938 broad.mit.edu 37 2 136566637 136566637 + Missense_Mutation SNP C T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr2:136566637C>T uc002tuu.1 - 8 3291 c.3280G>A c.(3280-3282)GCC>ACC p.A1094T NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1094 3.|Extracellular (Potential).|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) ACGGCGTGGGCTATCCTATAT 0.542 TTN 7273 broad.mit.edu 37 2 179392028 179392028 + Missense_Mutation SNP G A A TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr2:179392028G>A uc010zfg.1 - 312 100207 c.99983C>T c.(99982-99984)CCG>CTG p.P33328L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P27023L|TTN_uc010zfi.1_Missense_Mutation_p.P26956L|TTN_uc010zfj.1_Missense_Mutation_p.P26831L|TTN_uc002umq.2_Missense_Mutation_p.P244L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 34255 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AATTTTAGGCGGAATTCCTTT 0.378 ALPP 250 broad.mit.edu 37 2 233245025 233245025 + Missense_Mutation SNP C T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr2:233245025C>T uc002vsq.2 + 6 952 c.787C>T c.(787-789)CGC>TGC p.R263C ALPP_uc002vsr.2_5'Flank NM_001632 NP_001623 P05187 PPB1_HUMAN placental alkaline phosphatase preproprotein 263 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GCTGGCGAAGCGCCAGGTGAT 0.667 ALPPL2 251 broad.mit.edu 37 2 233273106 233273106 + Missense_Mutation SNP C T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr2:233273106C>T uc002vss.3 + 6 831 c.778C>T c.(778-780)CAC>TAC p.H260Y NM_031313 NP_112603 P10696 PPBN_HUMAN placental-like alkaline phosphatase 260 H -> R (in Ref. 8; AAH14139). phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding skin(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) GCTGGCGAAGCACCAGGTGAT 0.662 SCAND1 51282 broad.mit.edu 37 20 34542061 34542061 + Missense_Mutation SNP T C C TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr20:34542061T>C uc002xen.1 - 2 260 c.146A>G c.(145-147)GAG>GGG p.E49G SCAND1_uc002xeo.2_Missense_Mutation_p.E49G|SCAND1_uc002xep.2_Missense_Mutation_p.E49G NM_033630 NP_361012 P57086 SCND1_HUMAN SCAN domain containing protein 1 49 viral reproduction nucleus identical protein binding|sequence-specific DNA binding transcription factor activity 0 Breast(12;0.00631)|all_lung(11;0.0233) ACTGGAAGGCTCAGGGGCAGG 0.711 DLGAP4 22839 broad.mit.edu 37 20 35060225 35060225 + Silent SNP G A A TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr20:35060225G>A uc002xff.2 + 3 540 c.105G>A c.(103-105)TCG>TCA p.S35S DLGAP4_uc010zvp.1_Silent_p.S35S NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 35 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) ACCTGCTGTCGCCCACGGAGG 0.701 SHANK3 85358 broad.mit.edu 37 22 51160153 51160153 + Missense_Mutation SNP A G G TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr22:51160153A>G uc003bne.1 + 22 3940 c.3940A>G c.(3940-3942)AGG>GGG p.R1314G SHANK3_uc003bnf.1_Missense_Mutation_p.R761G|SHANK3_uc010hbg.1_Missense_Mutation_p.R496G NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 1314 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) TGAGGAGACCAGGGAGGAGCT 0.677 DHX30 22907 broad.mit.edu 37 3 47882649 47882649 + Missense_Mutation SNP G A A rs138418233 by1000genomes TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr3:47882649G>A uc003cru.2 + 7 1075 c.649G>A c.(649-651)GCT>ACT p.A217T DHX30_uc003crs.2_Missense_Mutation_p.A178T|DHX30_uc003crt.2_Missense_Mutation_p.A178T|DHX30_uc010hjr.1_Missense_Mutation_p.A245T NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 217 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding ovary(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GGATTCCCACGCTCCACTCAG 0.552 LAMP3 27074 broad.mit.edu 37 3 182872086 182872086 + Missense_Mutation SNP A G G TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr3:182872086A>G uc003flh.3 - 2 367 c.143T>C c.(142-144)ATA>ACA p.I48T NM_014398 NP_055213 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 48 Lumenal (Potential). cell proliferation integral to membrane|lysosomal membrane p.I48T(1) ovary(2)|central_nervous_system(1) 3 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) AGGTTTTTTTATGTCCTGTAC 0.428 SDHAP2 727956 broad.mit.edu 37 3 195404651 195404651 + Missense_Mutation SNP C G G rs1996904 by1000genomes TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr3:195404651C>G uc003fuw.2 + 10 1402 c.208C>G c.(208-210)CTT>GTT p.L70V SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1); 0 TGTCACGAATCTTGACAAATT 0.418 UTP3 57050 broad.mit.edu 37 4 71555475 71555475 + Missense_Mutation SNP G A A TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr4:71555475G>A uc003hfo.2 + 1 1280 c.1081G>A c.(1081-1083)GTT>ATT p.V361I NM_020368 NP_065101 Q9NQZ2 SAS10_HUMAN UTP3, small subunit processome component 361 brain development|chromatin modification|gene silencing nucleolus 0 Lung(101;0.235) TGCCTGTGCTGTTACAGATCT 0.363 ANKRD17 26057 broad.mit.edu 37 4 73951059 73951059 + Frame_Shift_Del DEL C - - TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr4:73951059delC uc003hgp.2 - 30 7183 c.7066delG c.(7066-7068)GCAfs p.A2356fs ANKRD17_uc003hgo.2_Frame_Shift_Del_p.A2243fs|ANKRD17_uc003hgq.2_Frame_Shift_Del_p.A2105fs|ANKRD17_uc003hgr.2_Frame_Shift_Del_p.A2355fs NM_032217 NP_115593 O75179 ANR17_HUMAN ankyrin repeat domain protein 17 isoform a 2356 interspecies interaction between organisms cytoplasm|nucleus RNA binding ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1) 10 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CCAAGGGGTGCCCCAGGTCCG 0.463 TRIML1 339976 broad.mit.edu 37 4 189068417 189068417 + Missense_Mutation SNP C T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr4:189068417C>T uc003izm.1 + 6 1413 c.1298C>T c.(1297-1299)CCG>CTG p.P433L TRIML1_uc003izn.1_Missense_Mutation_p.P157L NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 433 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) TACAGCTTCCCGCAGGCTTCT 0.522 EGFLAM 133584 broad.mit.edu 37 5 38438444 38438444 + Missense_Mutation SNP C T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr5:38438444C>T uc003jlc.1 + 17 2675 c.2351C>T c.(2350-2352)GCG>GTG p.A784V EGFLAM_uc003jlb.1_Missense_Mutation_p.A784V|EGFLAM_uc003jle.1_Missense_Mutation_p.A550V|EGFLAM_uc003jlf.1_Missense_Mutation_p.A150V NM_152403 NP_689616 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G 784 Laminin G-like 2.|EGF-like 3. cell junction|proteinaceous extracellular matrix|synapse pancreas(3)|skin(3)|ovary(1) 7 all_lung(31;0.000385) GTGGAGAATGCGGCCCACCCC 0.547 IL31RA 133396 broad.mit.edu 37 5 55210699 55210699 + Silent SNP C T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr5:55210699C>T uc003jql.2 + 14 1826 c.1761C>T c.(1759-1761)CCC>CCT p.P587P IL31RA_uc003jqm.2_Silent_p.P555P|IL31RA_uc003jqn.2_Silent_p.P587P|IL31RA_uc003jqo.2_Silent_p.P445P NM_139017 NP_620586 Q8NI17 IL31R_HUMAN gp130-like monocyte receptor 555 Cytoplasmic (Potential). anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity ovary(1) 1 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) TGTGTTGGCCCACCGTTCCCA 0.423 MAST4 375449 broad.mit.edu 37 5 66462447 66462447 + Silent SNP C T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr5:66462447C>T uc003jut.1 + 28 6941 c.6873C>T c.(6871-6873)AGC>AGT p.S2291S MAST4_uc003juw.2_Silent_p.S2219S|MAST4_uc003jux.2_Silent_p.S44S NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 2483 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CAGCCAGCAGCGACACCTCTT 0.652 OREG0016638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) TTC37 9652 broad.mit.edu 37 5 94838702 94838702 + Missense_Mutation SNP C G G TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr5:94838702C>G uc003klb.2 - 32 3493 c.3223G>C c.(3223-3225)GAG>CAG p.E1075Q NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1075 TPR 18. binding ovary(3)|pancreas(1) 4 AAGGCTCTCTCATAGGCTGTT 0.368 FBN2 2201 broad.mit.edu 37 5 127611828 127611828 + Missense_Mutation SNP G T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr5:127611828G>T uc003kuu.2 - 59 7935 c.7496C>A c.(7495-7497)CCG>CAG p.P2499Q NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2499 EGF-like 42; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GCATGGTTTCGGGGACTGGGA 0.433 ATP10B 23120 broad.mit.edu 37 5 160047790 160047790 + Silent SNP C T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr5:160047790C>T uc003lym.1 - 15 2827 c.1980G>A c.(1978-1980)TCG>TCA p.S660S ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Silent_p.S218S NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 660 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTCTCTCATCCGAGTCTGTGG 0.572 NKAPL 222698 broad.mit.edu 37 6 28228340 28228340 + Silent SNP A G G TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr6:28228340A>G uc003nkt.2 + 1 1243 c.1191A>G c.(1189-1191)AAA>AAG p.K397K ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 397 upper_aerodigestive_tract(1)|ovary(1) 2 AAAAGACAAAAGAGAAAGATG 0.368 ZKSCAN3 80317 broad.mit.edu 37 6 28333384 28333384 + Silent SNP G A A TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr6:28333384G>A uc003nle.3 + 6 1155 c.939G>A c.(937-939)CGG>CGA p.R313R ZKSCAN3_uc010jrc.2_Silent_p.R313R|ZKSCAN3_uc003nlf.3_Silent_p.R165R|uc010jrd.2_5'Flank NM_024493 NP_077819 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 313 positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2) 2 GAGGGAGGCGGCACATCTGCC 0.493 MDC1 9656 broad.mit.edu 37 6 30671653 30671653 + Silent SNP G A A TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr6:30671653G>A uc003nrg.3 - 10 5747 c.5307C>T c.(5305-5307)GCC>GCT p.A1769A MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Silent_p.A1376A NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1769 Required for nuclear localization (NLS2). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 GCTCAGGAATGGCTGTAAGGG 0.542 Other_conserved_DNA_damage_response_genes AIF1 199 broad.mit.edu 37 6 31584614 31584614 + Silent SNP A G G TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr6:31584614A>G uc003nuy.2 + 6 455 c.381A>G c.(379-381)AAA>AAG p.K127K AIF1_uc010jsy.2_3'UTR|AIF1_uc003nva.2_Silent_p.K73K NM_001623 NP_001614 P55008 AIF1_HUMAN allograft inflammatory factor 1 isoform 3 127 actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation nucleus|ruffle membrane actin filament binding|calcium ion binding ovary(1) 1 ATGAGGAAAAAGCGAGAGAAA 0.493 C6orf70 55780 broad.mit.edu 37 6 170156477 170156477 + Missense_Mutation SNP C A A TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr6:170156477C>A uc003qxg.1 + 4 392 c.359C>A c.(358-360)CCT>CAT p.P120H C6orf70_uc011ehb.1_Translation_Start_Site|C6orf70_uc003qxh.1_Missense_Mutation_p.P120H|C6orf70_uc010kky.1_Translation_Start_Site NM_018341 NP_060811 Q5T6L9 CF070_HUMAN hypothetical protein LOC55780 120 integral to membrane ovary(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) CTACAATCTCCTGCTATTTCT 0.348 IQCE 23288 broad.mit.edu 37 7 2613077 2613077 + Nonsense_Mutation SNP C A A TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr7:2613077C>A uc003smo.3 + 6 604 c.420C>A c.(418-420)TAC>TAA p.Y140* IQCE_uc010ksm.1_Nonsense_Mutation_p.Y140*|IQCE_uc003sml.1_Nonsense_Mutation_p.Y140*|IQCE_uc011jvy.1_Nonsense_Mutation_p.Y124*|IQCE_uc011jvz.1_Nonsense_Mutation_p.Y75*|IQCE_uc003smk.3_Nonsense_Mutation_p.Y124*|IQCE_uc003smn.3_Nonsense_Mutation_p.Y75* NM_152558 NP_689771 Q6IPM2 IQCE_HUMAN IQ motif containing E isoform 1 140 0 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) CTCCTGTCTACAGAGAAAAAG 0.343 MMD2 221938 broad.mit.edu 37 7 4947054 4947054 + Missense_Mutation SNP G T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr7:4947054G>T uc003sno.3 - 7 982 c.786C>A c.(784-786)AGC>AGA p.S262R MMD2_uc003snl.1_Intron|MMD2_uc003snn.3_Missense_Mutation_p.S238R|MMD2_uc010ksq.2_3'UTR NM_001100600 NP_001094070 Q8IY49 PAQRA_HUMAN monocyte to macrophage 262 Extracellular (Potential). integral to membrane receptor activity central_nervous_system(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) TCTGCAGGGTGCTGGGCAGAT 0.542 MLL3 58508 broad.mit.edu 37 7 151945049 151945049 + Missense_Mutation SNP C G G TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr7:151945049C>G uc003wla.2 - 14 2689 c.2470G>C c.(2470-2472)GGC>CGC p.G824R NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 824 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TTACCCATGCCAATTTTTGGA 0.408 N medulloblastoma ARHGEF10 9639 broad.mit.edu 37 8 1871746 1871746 + Missense_Mutation SNP C T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr8:1871746C>T uc003wpr.2 + 20 2550 c.2372C>T c.(2371-2373)CCC>CTC p.P791L ARHGEF10_uc003wpq.1_Missense_Mutation_p.P815L|ARHGEF10_uc003wps.2_Missense_Mutation_p.P753L|ARHGEF10_uc003wpv.2_Missense_Mutation_p.P524L|ARHGEF10_uc010lre.2_Missense_Mutation_p.P471L NM_014629 NP_055444 O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor 10 816 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) TTACAGCTTCCCGGGAAGCAG 0.423 CSPP1 79848 broad.mit.edu 37 8 68024278 68024278 + Missense_Mutation SNP G A A TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr8:68024278G>A uc003xxi.2 + 11 1328 c.1297G>A c.(1297-1299)GAG>AAG p.E433K CSPP1_uc003xxg.1_Missense_Mutation_p.E425K|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.E398K|CSPP1_uc003xxk.2_Missense_Mutation_p.E104K NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 433 Potential. centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) ACAAATGGCTGAGCAACAGAG 0.353 SULF1 23213 broad.mit.edu 37 8 70512942 70512942 + Missense_Mutation SNP G A A TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr8:70512942G>A uc010lza.1 + 9 1556 c.839G>A c.(838-840)CGC>CAC p.R280H SULF1_uc003xyd.2_Missense_Mutation_p.R280H|SULF1_uc003xye.2_Missense_Mutation_p.R280H|SULF1_uc003xyf.2_Missense_Mutation_p.R280H|SULF1_uc003xyg.2_Missense_Mutation_p.R280H|SULF1_uc003xyh.1_RNA NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 280 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) ATTCTACAGCGCAAAAGGCTC 0.433 ZFHX4 79776 broad.mit.edu 37 8 77617628 77617628 + Missense_Mutation SNP G A A TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr8:77617628G>A uc003yav.2 + 2 1692 c.1305G>A c.(1303-1305)ATG>ATA p.M435I ZFHX4_uc003yat.1_Missense_Mutation_p.M435I|ZFHX4_uc003yau.1_Missense_Mutation_p.M435I|ZFHX4_uc003yaw.1_Missense_Mutation_p.M435I NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 435 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTAGCAAGATGTCAGAGAGCA 0.488 HNSCC(33;0.089) RGS22 26166 broad.mit.edu 37 8 101018320 101018320 + Silent SNP T C C TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr8:101018320T>C uc003yjb.1 - 16 2574 c.2379A>G c.(2377-2379)GAA>GAG p.E793E RGS22_uc003yja.1_Silent_p.E612E|RGS22_uc003yjc.1_Silent_p.E781E|RGS22_uc011lgz.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 793 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) ACTGTCGAGTTTCTTCCACCA 0.373 ANKS6 203286 broad.mit.edu 37 9 101530526 101530526 + Missense_Mutation SNP C T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr9:101530526C>T uc004ayu.2 - 11 2000 c.1979G>A c.(1978-1980)AGC>AAC p.S660N ANKS6_uc004ayt.2_Missense_Mutation_p.S359N|ANKS6_uc004ayv.1_Missense_Mutation_p.S122N|ANKS6_uc004ayw.1_Missense_Mutation_p.S242N|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA NM_173551 NP_775822 Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain 660 Ser-rich. ovary(2) 2 Acute lymphoblastic leukemia(62;0.0527) ATTGTCTATGCTGCCACCTGA 0.438 OR13C4 138804 broad.mit.edu 37 9 107288582 107288582 + Silent SNP T C C TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr9:107288582T>C uc011lvn.1 - 1 909 c.909A>G c.(907-909)GTA>GTG p.V303V NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, 303 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TAGCAGCTTTTACATCTTTAT 0.373 SARDH 1757 broad.mit.edu 37 9 136594905 136594905 + Missense_Mutation SNP C G G rs141160856 byFrequency TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chr9:136594905C>G uc004cep.3 - 6 1031 c.897G>C c.(895-897)GAG>GAC p.E299D SARDH_uc004ceo.2_Missense_Mutation_p.E299D|SARDH_uc011mdn.1_Missense_Mutation_p.E299D|SARDH_uc011mdo.1_Missense_Mutation_p.E131D NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 299 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) CCTCGATGCGCTCGGTGACGA 0.488 APOO 79135 broad.mit.edu 37 X 23899048 23899048 + Missense_Mutation SNP G A A TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chrX:23899048G>A uc004dax.2 - 2 262 c.31C>T c.(31-33)CCA>TCA p.P11S APOO_uc004daw.2_RNA|APOO_uc004day.3_RNA NM_024122 NP_077027 Q9BUR5 APOO_HUMAN apolipoprotein O precursor 11 lipid transport high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle 0 AGGCTGGCTGGCCCCACGGAC 0.458 MAGEB3 4114 broad.mit.edu 37 X 30254384 30254384 + Missense_Mutation SNP A G G TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chrX:30254384A>G uc004dca.1 + 5 1080 c.343A>G c.(343-345)ACA>GCA p.T115A NM_002365 NP_002356 O15480 MAGB3_HUMAN melanoma antigen family B, 3 115 MAGE. 0 AATCATGAAGACAAATATGTT 0.403 CXorf65 158830 broad.mit.edu 37 X 70324148 70324148 + Silent SNP C T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chrX:70324148C>T uc011mpo.1 - 5 440 c.426G>A c.(424-426)CCG>CCA p.P142P CXorf65_uc011mpp.1_Silent_p.P94P NM_001025265 NP_001020436 A6NEN9 CX065_HUMAN hypothetical protein LOC158830 142 central_nervous_system(1) 1 CAAGTCTTACCGGGACACTCG 0.517 STAG2 10735 broad.mit.edu 37 X 123182854 123182854 + Splice_Site SNP G T T TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chrX:123182854G>T uc004etz.3 + 9 1159 c.820_splice c.e9-1 p.L274_splice STAG2_uc004eua.2_Splice_Site_p.L274_splice|STAG2_uc004eub.2_Splice_Site_p.L274_splice|STAG2_uc004euc.2_Splice_Site_p.L274_splice|STAG2_uc004eud.2_Splice_Site_p.L274_splice|STAG2_uc004eue.2_Splice_Site_p.L274_splice NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 TTTTTTTACAGCTTCAGGAAA 0.308 SPANXN4 441525 broad.mit.edu 37 X 142121936 142121936 + Silent SNP G A A TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chrX:142121936G>A uc004fbv.3 + 2 301 c.204G>A c.(202-204)GAG>GAA p.E68E NM_001009613 NP_001009613 Q5MJ08 SPXN4_HUMAN SPANX family, member N4 68 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) ATCAACTGGAGAATAACCAGC 0.413 BRCC3 79184 broad.mit.edu 37 X 154344437 154344437 + Missense_Mutation SNP G C C TCGA-41-4097-01A-01D-1353-08 TCGA-41-4097-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 1f6b6d1e-c6b0-4f46-a792-cdd0f755033c fadac2f2-f59d-4e7e-a349-c65d02e9ae72 g.chrX:154344437G>C uc004fna.2 + 9 822 c.729G>C c.(727-729)GAG>GAC p.E243D BRCC3_uc004fnb.2_Missense_Mutation_p.E218D NM_024332 NP_077308 P46736 BRCC3_HUMAN BRCA1/BRCA2-containing complex, subunit 3 243 double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(3)|ovary(1)|large_intestine(1)|breast(1) 6 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GCCAGGAGGAGCAGGATGCGT 0.333