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 CROCC 9696 broad.mit.edu 37 1 17296756 17296756 + Silent SNP G A A TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr1:17296756G>A uc001azt.2 + 34 5529 c.5460G>A c.(5458-5460)CGG>CGA p.R1820R CROCC_uc001azu.2_Silent_p.R1123R|CROCC_uc001azv.2_Silent_p.R156R NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 1820 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) AGGTGCTGCGGCAGCGGCAGG 0.428 HCRTR1 3061 broad.mit.edu 37 1 32086485 32086485 + Silent SNP C T T rs140406432 TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr1:32086485C>T uc009vtx.2 + 5 805 c.420C>T c.(418-420)ATC>ATT p.I140I HCRTR1_uc001btb.2_5'UTR|HCRTR1_uc001btc.3_Silent_p.I54I|HCRTR1_uc001btd.2_Silent_p.I140I|HCRTR1_uc010ogl.1_Silent_p.I140I NM_001525 NP_001516 O43613 OX1R_HUMAN orexin receptor 1 140 Helical; Name=3; (Potential). feeding behavior|neuropeptide signaling pathway|synaptic transmission integral to plasma membrane ovary(1) 1 Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.053) TCAGCTTCATCGCCCTGGACC 0.612 PABPC4 8761 broad.mit.edu 37 1 40038250 40038250 + Missense_Mutation SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr1:40038250C>T uc010oiv.1 - 2 1100 c.202G>A c.(202-204)GCT>ACT p.A68T PABPC4_uc001cdl.2_Missense_Mutation_p.A68T|PABPC4_uc001cdm.2_Missense_Mutation_p.A68T NM_003819 NP_003810 Q13310 PABP4_HUMAN poly A binding protein, cytoplasmic 4 isoform 2 68 RRM 1. blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding 0 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GTGTCCAAAGCCCGCTCAGCT 0.463 CYP4X1 260293 broad.mit.edu 37 1 47512186 47512186 + Missense_Mutation SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr1:47512186C>T uc001cqt.2 + 9 1371 c.1121C>T c.(1120-1122)ACG>ATG p.T374M CYP4X1_uc001cqr.2_Missense_Mutation_p.T373M|CYP4X1_uc001cqs.2_Missense_Mutation_p.T309M NM_178033 NP_828847 Q8N118 CP4X1_HUMAN cytochrome P450, family 4, subfamily X, 374 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1)|skin(1) 2 ATCAAGGAGACGTGCCGATTG 0.493 CYP4A22 284541 broad.mit.edu 37 1 47606460 47606460 + Silent SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr1:47606460C>T uc001cqv.1 + 2 255 c.204C>T c.(202-204)CAC>CAT p.H68H CYP4A22_uc009vyo.2_Silent_p.H68H|CYP4A22_uc009vyp.2_Silent_p.H68H NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, 68 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding skin(2)|ovary(1)|breast(1) 4 AGTTCCAACACGACCAGGAGC 0.498 CDKN2C 1031 broad.mit.edu 37 1 51439583 51439583 + Frame_Shift_Del DEL C - - TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr1:51439583delC uc001csf.2 + 3 1364 c.148delC c.(148-150)CCCfs p.P50fs CDKN2C_uc001csg.2_Frame_Shift_Del_p.P50fs NM_001262 NP_001253 P42773 CDN2C_HUMAN cyclin-dependent kinase inhibitor 2C 50 ANK 2. cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding p.0?(4)|p.?(1) central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(5)|ovary(2)|thyroid(1)|lung(1)|kidney(1) 17 GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151) ACTTGGAAATCCCGAGATTGC 0.428 D glioma|MM Multiple_Endocrine_Neoplasia_type_1 FCRLA 84824 broad.mit.edu 37 1 161682005 161682005 + Nonsense_Mutation SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr1:161682005C>T uc001gbe.2 + 5 1092 c.850C>T c.(850-852)CAG>TAG p.Q284* FCRLA_uc001gbd.2_Nonsense_Mutation_p.Q278*|FCRLA_uc001gbf.2_Nonsense_Mutation_p.Q189*|FCRLA_uc001gbg.2_Nonsense_Mutation_p.Q138*|FCRLA_uc009wuo.2_Nonsense_Mutation_p.Q144*|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron NM_032738 NP_116127 Q7L513 FCRLA_HUMAN Fc receptor-like and mucin-like 1 261 cell differentiation cytoplasm|extracellular region 0 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) GATCAGAGTGCAGGGTGAGTT 0.527 RYR2 6262 broad.mit.edu 37 1 237754030 237754030 + Missense_Mutation SNP A G G TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr1:237754030A>G uc001hyl.1 + 31 4018 c.3898A>G c.(3898-3900)ATG>GTG p.M1300V NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1300 Cytoplasmic (By similarity).|4 X approximate repeats. 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) CACTGATATCATGTTTTATCG 0.522 KIF5B 3799 broad.mit.edu 37 10 32306085 32306085 + Missense_Mutation SNP T C C TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr10:32306085T>C uc001iwe.3 - 24 3217 c.2747A>G c.(2746-2748)CAT>CGT p.H916R NM_004521 NP_004512 P33176 KINH_HUMAN kinesin family member 5B 916 Globular. stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(4) lung(4)|ovary(1) 5 Prostate(175;0.0137) CTGTGCAGAATGCCCTCTTCT 0.383 PTEN 5728 broad.mit.edu 37 10 89720857 89720857 + Nonsense_Mutation SNP C A A TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr10:89720857C>A uc001kfb.2 + 9 2039 c.1008C>A c.(1006-1008)TAC>TAA p.Y336* NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 336 C2 tensin-type. Y->F: Significantly lower phosphatase activity, reduced protein stability and decreased growth-inhibitory effect. 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.R55fs*1(4)|p.Y336*(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.Y336F(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.R335fs*4(1)|p.W274_F341del(1)|p.D326_K342del(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) CCAACCGATACTTTTCTCCAA 0.333 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) SLC6A13 6540 broad.mit.edu 37 12 333249 333249 + Missense_Mutation SNP G A A TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr12:333249G>A uc001qic.1 - 11 1273 c.1220C>T c.(1219-1221)CCT>CTT p.P407L SLC6A13_uc009zdj.1_Missense_Mutation_p.P397L|SLC6A13_uc010sdl.1_Missense_Mutation_p.P315L NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter 407 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) GAACACGTGAGGGTACATGTC 0.562 LST-3TM12 338821 broad.mit.edu 37 12 21201718 21201718 + Missense_Mutation SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr12:21201718C>T uc010sin.1 + 8 1067 c.1067C>T c.(1066-1068)TCT>TTT p.S356F SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.S403F NM_001009562 NP_001009562 Q71QF0 Q71QF0_HUMAN liver-specific organic anion transporter 3TM12 356 membrane transporter activity 0 TTCAAATTGTCTTTAGTTGGA 0.353 E2F7 144455 broad.mit.edu 37 12 77426878 77426878 + Missense_Mutation SNP A G G TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr12:77426878A>G uc001sym.3 - 9 1570 c.1334T>C c.(1333-1335)ATT>ACT p.I445T E2F7_uc009zse.2_5'Flank NM_203394 NP_976328 Q96AV8 E2F7_HUMAN E2F transcription factor 7 445 cell cycle transcription factor complex DNA binding|identical protein binding upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 CAGGCTTCCAATTTCTAAAGA 0.353 RPH3A 22895 broad.mit.edu 37 12 113313505 113313505 + Missense_Mutation SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr12:113313505C>T uc010syl.1 + 12 1267 c.905C>T c.(904-906)CCG>CTG p.P302L RPH3A_uc001ttz.2_Missense_Mutation_p.P302L|RPH3A_uc001tty.2_Missense_Mutation_p.P298L|RPH3A_uc009zwe.1_Missense_Mutation_p.P298L|RPH3A_uc010sym.1_Missense_Mutation_p.P253L|RPH3A_uc001tua.2_Missense_Mutation_p.P62L NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog isoform 1 302 Pro-rich. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding ovary(3)|central_nervous_system(2)|skin(2) 7 BRCA - Breast invasive adenocarcinoma(302;0.00453) GGAAGCAGACCGGGTCCTGGG 0.577 SLC7A1 6541 broad.mit.edu 37 13 30110213 30110213 + Missense_Mutation SNP A G G TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr13:30110213A>G uc001uso.2 - 3 500 c.113T>C c.(112-114)GTG>GCG p.V38A NM_003045 NP_003036 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid 38 Helical; (Potential). cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity 0 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CCCGAGGGCCACCAGATCAAA 0.627 SPERT 220082 broad.mit.edu 37 13 46287863 46287863 + Missense_Mutation SNP G A A TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr13:46287863G>A uc001van.1 + 3 783 c.703G>A c.(703-705)GCC>ACC p.A235T SPERT_uc001vao.2_Missense_Mutation_p.A199T NM_152719 NP_689932 Q8NA61 SPERT_HUMAN spermatid associated 235 cytoplasmic membrane-bounded vesicle central_nervous_system(1)|pancreas(1) 2 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) GGACCACGTCGCCCTGCAGGT 0.677 C15orf2 23742 broad.mit.edu 37 15 24921157 24921157 + Missense_Mutation SNP G A A TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr15:24921157G>A uc001ywo.2 + 1 617 c.143G>A c.(142-144)CGC>CAC p.R48H NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 48 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CGCCCTTTCCGCGGCCTGTTC 0.761 SPPL2A 84888 broad.mit.edu 37 15 51031880 51031880 + Silent SNP A G G TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr15:51031880A>G uc001zyv.2 - 6 910 c.730T>C c.(730-732)TTG>CTG p.L244L NM_032802 NP_116191 Q8TCT8 PSL2_HUMAN signal peptide peptidase-like 2A 244 integral to membrane aspartic-type endopeptidase activity 0 all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314) TTCTTACCCAACCATTTGTAG 0.308 LARP6 55323 broad.mit.edu 37 15 71128745 71128745 + Silent SNP G A A TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr15:71128745G>A uc002ass.2 - 2 371 c.300C>T c.(298-300)ATC>ATT p.I100I NM_018357 NP_060827 Q9BRS8 LARP6_HUMAN La ribonucleoprotein domain family, member 6 100 HTH La-type RNA-binding. RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 AGTAGAATTCGATCTGATCCA 0.502 MSLNL 401827 broad.mit.edu 37 16 820272 820272 + Missense_Mutation SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr16:820272C>T uc002cjz.1 - 15 2713 c.2713G>A c.(2713-2715)GTG>ATG p.V905M MIR662_hsa-mir-662|MI0003670_RNA NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like 554 Extracellular (Potential). cell adhesion integral to membrane breast(3)|ovary(1) 4 AGCGCAGTCACGTTGCCAACA 0.692 OSGIN1 29948 broad.mit.edu 37 16 83994249 83994249 + Missense_Mutation SNP C T T rs62640906 byFrequency TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr16:83994249C>T uc002fha.2 + 5 912 c.529C>T c.(529-531)CGC>TGC p.R177C OSGIN1_uc002fhb.2_Missense_Mutation_p.R94C|OSGIN1_uc002fhc.2_Missense_Mutation_p.R94C NM_013370 NP_037502 Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 177 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity 0 TGCCCTTCTACGCCCAGACAC 0.632 OR3A4 390756 broad.mit.edu 37 17 3214529 3214529 + Missense_Mutation SNP G A A TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr17:3214529G>A uc002fvi.2 + 1 991 c.925G>A c.(925-927)GAT>AAT p.D309N NR_024128 RecName: Full=Olfactory receptor 3A4; AltName: Full=Olfactory receptor 17-24; Short=OR17-24; ovary(1) 1 CTGTTCCTCCGATGCTGGCGT 0.587 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C T T rs28934576 by1000genomes TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr17:7577120C>T uc002gim.2 - 8 1012 c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCACAAACACGCACCTCAAA 0.542 R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) SGK494 124923 broad.mit.edu 37 17 26939067 26939067 + Missense_Mutation SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr17:26939067C>T uc002hbr.1 - 7 720 c.688G>A c.(688-690)GTG>ATG p.V230M SGK494_uc010waq.1_Intron|SGK494_uc010war.1_RNA|uc010crq.1_5'Flank|uc002hbs.1_RNA NM_144610 NP_653211 uncharacterized serine/threonine-protein kinase 0 TCTACCTTCACATCTCGATGC 0.443 KIF2B 84643 broad.mit.edu 37 17 51901460 51901460 + Missense_Mutation SNP T A A TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr17:51901460T>A uc002iua.2 + 1 1222 c.1066T>A c.(1066-1068)TTT>ATT p.F356I uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 356 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 CTATGGGACATTTTTTGAGAT 0.453 USH1G 124590 broad.mit.edu 37 17 72916669 72916669 + Missense_Mutation SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr17:72916669C>T uc002jme.1 - 2 445 c.262G>A c.(262-264)GGA>AGA p.G88R USH1G_uc010wro.1_5'UTR NM_173477 NP_775748 Q495M9 USH1G_HUMAN Usher syndrome 1G protein 88 ANK 2. equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton skin(2) 2 all_lung(278;0.172)|Lung NSC(278;0.207) ATGTTGGCTCCGAAGGACACC 0.602 DNAH17 8632 broad.mit.edu 37 17 76502887 76502887 + Missense_Mutation SNP G A A TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr17:76502887G>A uc010wtu.1 - 4 770 c.593C>T c.(592-594)ACG>ATG p.T198M full-length cDNA clone CS0DJ002YI14 of T cells (Jurkat cell line) Cot 10-normalized of Homo sapiens (human). ovary(6)|breast(2)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CAGTCTTTTCGTCTCTAAATA 0.557 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr18:14513764C>T uc010dln.2 - 10 1884 c.1430G>A c.(1429-1431)CGG>CAG p.R477Q POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 477 skin(3) 3 AAGTTGTTTCCGGGTATCATT 0.358 POLRMT 5442 broad.mit.edu 37 19 619972 619972 + Missense_Mutation SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr19:619972C>T uc002lpf.1 - 12 2928 c.2872G>A c.(2872-2874)GGC>AGC p.G958S NM_005035 NP_005026 O00411 RPOM_HUMAN mitochondrial DNA-directed RNA polymerase 958 Mediates interaction with TEFM. transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding ovary(1)|pancreas(1) 2 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGGCCACGCCGCTGTACACG 0.701 SIPA1L3 23094 broad.mit.edu 37 19 38655177 38655177 + Missense_Mutation SNP G T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr19:38655177G>T uc002ohk.2 + 15 4348 c.3839G>T c.(3838-3840)AGC>ATC p.S1280I NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 1280 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) AACGCATCCAGCAGCCACAGC 0.607 LILRB2 10288 broad.mit.edu 37 19 54780739 54780739 + Missense_Mutation SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr19:54780739C>T uc002qfb.2 - 10 1671 c.1405G>A c.(1405-1407)GTC>ATC p.V469I LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.V469I|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.V468I|LILRB2_uc010yet.1_Missense_Mutation_p.V353I NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 469 Helical; (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) agtaggaCGACGGCCACCAAG 0.413 LENG8 114823 broad.mit.edu 37 19 54967251 54967251 + Silent SNP T G G TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr19:54967251T>G uc002qfv.1 + 8 1164 c.1020T>G c.(1018-1020)GGT>GGG p.G340G LENG8_uc002qfw.2_Silent_p.G377G Q96PV6 LENG8_HUMAN RecName: Full=Leukocyte receptor cluster member 8; 340 protein binding central_nervous_system(1)|pancreas(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) GGGGCGGGGGTGCCCCGTCCC 0.687 LILRB1 10859 broad.mit.edu 37 19 55146136 55146136 + Missense_Mutation SNP G A A TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr19:55146136G>A uc002qgj.2 + 11 1745 c.1405G>A c.(1405-1407)GTC>ATC p.V469I LILRB1_uc010erp.1_Missense_Mutation_p.V84I|LILRB1_uc002qgl.2_Missense_Mutation_p.V469I|LILRB1_uc002qgk.2_Missense_Mutation_p.V470I|LILRB1_uc002qgm.2_Missense_Mutation_p.V470I|LILRB1_uc010erq.2_Missense_Mutation_p.V453I|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 469 Helical; (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) CTTGGTGGCCGTCAtcctact 0.413 HNSCC(37;0.09) TEKT4 150483 broad.mit.edu 37 2 95539765 95539765 + Missense_Mutation SNP G A A TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr2:95539765G>A uc002stw.1 + 3 718 c.625G>A c.(625-627)GCC>ACC p.A209T uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA NM_144705 NP_653306 Q8WW24 TEKT4_HUMAN tektin 4 209 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|breast(1)|skin(1) 3 CAAGATGGAGGCCTACAACAT 0.652 MARCO 8685 broad.mit.edu 37 2 119752091 119752091 + Missense_Mutation SNP G A A TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr2:119752091G>A uc002tln.1 + 17 1690 c.1558G>A c.(1558-1560)GTC>ATC p.V520I MARCO_uc010yyf.1_Missense_Mutation_p.V442I NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 520 Extracellular (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 GGAGTGCAGCGTCTGACCCGG 0.602 NEB 4703 broad.mit.edu 37 2 152484105 152484105 + Missense_Mutation SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr2:152484105C>T uc010fnx.2 - 65 9537 c.9346G>A c.(9346-9348)GAG>AAG p.E3116K NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3116 Nebulin 84. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CACGTCCACTCGTGCAGGTAG 0.532 LRP2 4036 broad.mit.edu 37 2 170044684 170044684 + Missense_Mutation SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr2:170044684C>T uc002ues.2 - 49 9337 c.9124G>A c.(9124-9126)GGG>AGG p.G3042R NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 3042 LDL-receptor class A 24.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ATGCAGCGCCCGTTCTGACAG 0.512 TTN 7273 broad.mit.edu 37 2 179437646 179437646 + Missense_Mutation SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr2:179437646C>T uc010zfg.1 - 275 65733 c.65509G>A c.(65509-65511)GAA>AAA p.E21837K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E15532K|TTN_uc010zfi.1_Missense_Mutation_p.E15465K|TTN_uc010zfj.1_Missense_Mutation_p.E15340K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22764 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) CCAAGTCCTTCGGAATTCATG 0.488 ITGA4 3676 broad.mit.edu 37 2 182360569 182360569 + Missense_Mutation SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr2:182360569C>T uc002unu.2 + 14 2208 c.1445C>T c.(1444-1446)ACG>ATG p.T482M ITGA4_uc010frj.1_5'Flank NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 482 Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) GTAAATAGAACGAAATTTGAC 0.388 BARD1 580 broad.mit.edu 37 2 215646041 215646041 + Missense_Mutation SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr2:215646041C>T uc002veu.2 - 4 692 c.557G>A c.(556-558)AGT>AAT p.S186N BARD1_uc010zjm.1_Missense_Mutation_p.S42N NM_000465 NP_000456 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 186 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding lung(2) 2 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TGCAGGAGGACTTGGGGAAAC 0.383 Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome SPEG 10290 broad.mit.edu 37 2 220342016 220342016 + Silent SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr2:220342016C>T uc010fwg.2 + 20 4578 c.4578C>T c.(4576-4578)ACC>ACT p.T1526T NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 1526 Ig-like 8. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 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) TGCTGCTGACCGAGAGCAGCC 0.642 TPTE 7179 broad.mit.edu 37 21 10951337 10951337 + Silent SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr21:10951337C>T uc002yip.1 - 10 743 c.375G>A c.(373-375)GAG>GAA p.E125E TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.E107E|TPTE_uc002yir.1_Silent_p.E87E|TPTE_uc010gkv.1_5'UTR NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 125 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TAGAACGATACTCCAAAGGAA 0.328 KRTAP6-1 337966 broad.mit.edu 37 21 31986020 31986020 + Silent SNP G T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr21:31986020G>T uc002yop.2 - 1 204 c.204C>A c.(202-204)GGC>GGA p.G68G KRTAP20-1_uc011ade.1_5'Flank NM_181602 NP_853633 Q3LI64 KRA61_HUMAN keratin associated protein 6-1 68 cytosol|intermediate filament 0 AATAATAGTAGCCAGAGCCAG 0.537 ITSN1 6453 broad.mit.edu 37 21 35254584 35254584 + Missense_Mutation SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr21:35254584C>T uc002yta.1 + 35 4647 c.4379C>T c.(4378-4380)CCG>CTG p.P1460L DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.P1455L|ITSN1_uc002ytj.2_Missense_Mutation_p.P1399L|ITSN1_uc010gmm.1_RNA|ITSN1_uc010gmn.1_Intron|ITSN1_uc002ytk.1_Intron NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 1460 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 TGCTTGGGGCCGCGCAAATTT 0.473 DIP2A 23181 broad.mit.edu 37 21 47957153 47957153 + Silent SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr21:47957153C>T uc002zjo.2 + 14 1842 c.1659C>T c.(1657-1659)AAC>AAT p.N553N DIP2A_uc011afy.1_Silent_p.N489N|DIP2A_uc011afz.1_Silent_p.N549N|DIP2A_uc002zjl.2_Silent_p.N553N|DIP2A_uc002zjm.2_Silent_p.N553N|DIP2A_uc010gql.2_Silent_p.N510N|DIP2A_uc002zjn.2_Silent_p.N553N|DIP2A_uc002zjp.1_Silent_p.N298N|DIP2A_uc002zjq.2_5'Flank NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 553 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) CATTAACAAACGTGCTGGATT 0.443 SUSD2 56241 broad.mit.edu 37 22 24582099 24582099 + Silent SNP G A A TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr22:24582099G>A uc002zzn.1 + 9 1499 c.1455G>A c.(1453-1455)GCG>GCA p.A485A NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 precursor 485 VWFD.|Extracellular (Potential). immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 GGGTGCAGGCGCGGGCCCAGC 0.647 FGD5 152273 broad.mit.edu 37 3 14861789 14861789 + Missense_Mutation SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr3:14861789C>T uc003bzc.2 + 1 1321 c.1211C>T c.(1210-1212)GCG>GTG p.A404V FGD5_uc011avk.1_Missense_Mutation_p.A404V NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 404 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 CAGGGTGGAGCGGCCGAGGGT 0.647 COL7A1 1294 broad.mit.edu 37 3 48621742 48621742 + Missense_Mutation SNP T G G TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr3:48621742T>G uc003ctz.2 - 36 4187 c.4186A>C c.(4186-4188)ACA>CCA p.T1396P NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 1396 Triple-helical region.|Interrupted collagenous region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TTCATGGCTGTTCCAGGAAGC 0.607 CD86 942 broad.mit.edu 37 3 121822548 121822548 + Missense_Mutation SNP G A A TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr3:121822548G>A uc003eet.2 + 3 370 c.254G>A c.(253-255)CGC>CAC p.R85H CD86_uc011bjo.1_Missense_Mutation_p.R3H|CD86_uc011bjp.1_Intron|CD86_uc003eeu.2_Missense_Mutation_p.R79H NM_175862 NP_787058 P42081 CD86_HUMAN CD86 antigen isoform 1 85 Ig-like V-type.|Extracellular (Potential). interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding pancreas(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) TATATGGGCCGCACAAGTTTT 0.423 SLBP 7884 broad.mit.edu 37 4 1701407 1701407 + Missense_Mutation SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr4:1701407C>T uc003gdi.1 - 5 478 c.363G>A c.(361-363)ATG>ATA p.M121I SLBP_uc010ibx.1_Missense_Mutation_p.M128I|SLBP_uc003gdj.1_Missense_Mutation_p.M101I|SLBP_uc003gdk.1_Missense_Mutation_p.M82I|SLBP_uc011bvf.1_Missense_Mutation_p.M86I|SLBP_uc003gdl.1_Missense_Mutation_p.M38I NM_006527 NP_006518 Q14493 SLBP_HUMAN stem-loop (histone) binding protein 121 DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding 0 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.0055) GCACAGTAGACATAGACTCCT 0.393 ANK2 287 broad.mit.edu 37 4 114278539 114278539 + Missense_Mutation SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr4:114278539C>T uc003ibe.3 + 38 8865 c.8765C>T c.(8764-8766)CCA>CTA p.P2922L ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.P224L|ANK2_uc011cgb.1_Missense_Mutation_p.P2937L NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2889 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ATCTATGATCCACAAATCACT 0.408 ZFP42 132625 broad.mit.edu 37 4 188924445 188924445 + Missense_Mutation SNP C G G TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr4:188924445C>G uc003izg.1 + 3 729 c.484C>G c.(484-486)CTA>GTA p.L162V ZFP42_uc003izh.1_Missense_Mutation_p.L162V|ZFP42_uc003izi.1_Missense_Mutation_p.L162V NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN zinc finger protein 42 162 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) TGGCATTGACCTATCAGATCC 0.453 PCDHB16 57717 broad.mit.edu 37 5 140563779 140563779 + Missense_Mutation SNP G T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr5:140563779G>T uc003liv.2 + 1 2800 c.1645G>T c.(1645-1647)GTG>TTG p.V549L NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 549 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTGGTGCGCGTGCTGGTGCT 0.711 GABRG2 2566 broad.mit.edu 37 5 161580200 161580200 + Silent SNP C T T rs113085352 TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr5:161580200C>T uc003lyz.3 + 9 1588 c.1230C>T c.(1228-1230)GAC>GAT p.D410D GABRG2_uc010jjc.2_Silent_p.D458D|GABRG2_uc003lyy.3_Silent_p.D418D|GABRG2_uc011dej.1_Silent_p.D315D NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 410 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) AGTGTCTGGACGGCAAGGACT 0.463 RFX6 222546 broad.mit.edu 37 6 117232121 117232121 + Silent SNP G A A TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr6:117232121G>A uc003pxm.2 + 7 759 c.696G>A c.(694-696)TCG>TCA p.S232S NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 232 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 GTAAATATTCGCTTAGCTCAA 0.343 CD36 948 broad.mit.edu 37 7 80300317 80300317 + Silent SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr7:80300317C>T uc003uhc.2 + 13 1527 c.843C>T c.(841-843)TCC>TCT p.S281S CD36_uc003uhd.3_Silent_p.S281S|CD36_uc011kgv.1_Silent_p.S205S|CD36_uc003uhe.3_Silent_p.S281S|CD36_uc003uhf.3_Silent_p.S281S|CD36_uc003uhg.3_Silent_p.S281S|CD36_uc003uhh.3_Silent_p.S281S NM_001127444 NP_001120916 P16671 CD36_HUMAN CD36 antigen 281 Extracellular (Potential). cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding ovary(1) 1 TATTTGAATCCGACGTTAATC 0.388 SEMA3C 10512 broad.mit.edu 37 7 80434993 80434993 + Missense_Mutation SNP G A A TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr7:80434993G>A uc003uhj.2 - 7 1182 c.620C>T c.(619-621)GCG>GTG p.A207V SEMA3C_uc011kgw.1_Missense_Mutation_p.A225V|SEMA3C_uc011kgx.1_Missense_Mutation_p.A59V NM_006379 NP_006370 Q99985 SEM3C_HUMAN semaphorin 3C precursor 207 Sema. immune response|response to drug membrane receptor activity ovary(1) 1 AGTTCTGACCGCATTCCTCTT 0.323 TES 26136 broad.mit.edu 37 7 115892026 115892026 + Silent SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr7:115892026C>T uc003vho.2 + 5 1096 c.915C>T c.(913-915)GAC>GAT p.D305D TES_uc011kmy.1_Silent_p.D63D|TES_uc003vhp.2_Silent_p.D296D|uc003vhq.1_5'Flank NM_015641 NP_056456 Q9UGI8 TES_HUMAN testin isoform 1 305 LIM zinc-binding 2. negative regulation of cell proliferation cytoplasm|focal adhesion|nucleus|protein complex zinc ion binding 0 Lung NSC(10;0.0137)|all_lung(10;0.0148) Breast(660;0.0602) STAD - Stomach adenocarcinoma(10;0.00878) CTGGCTGTGACGAGGTATGTT 0.478 WEE2 494551 broad.mit.edu 37 7 141408767 141408767 + Missense_Mutation SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr7:141408767C>T uc003vwn.2 + 1 615 c.209C>T c.(208-210)TCG>TTG p.S70L FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN WEE1 homolog 2 70 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Melanoma(164;0.0171) GACACATCTTCGGAAAAAGAC 0.517 ARHGEF5 7984 broad.mit.edu 37 7 144060365 144060365 + Missense_Mutation SNP T A A TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr7:144060365T>A uc003wel.2 + 2 721 c.603T>A c.(601-603)AGT>AGA p.S201R ARHGEF5_uc003wek.2_Missense_Mutation_p.S201R NM_005435 NP_005426 Q12774 ARHG5_HUMAN rho guanine nucleotide exchange factor 5 201 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity skin(2) 2 Melanoma(164;0.14) GCTCTGAAAGTGGGACTATCA 0.532 DOCK5 80005 broad.mit.edu 37 8 25190203 25190203 + Missense_Mutation SNP G A A TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr8:25190203G>A uc003xeg.2 + 20 2223 c.2086G>A c.(2086-2088)GCA>ACA p.A696T DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.A410T|DOCK5_uc003xei.2_Missense_Mutation_p.A266T|DOCK5_uc003xej.2_RNA NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 696 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) TGTGTTTGACGCACTGGTAAG 0.214 DOCK5 80005 broad.mit.edu 37 8 25225732 25225732 + Silent SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr8:25225732C>T uc003xeg.2 + 32 3386 c.3249C>T c.(3247-3249)ATC>ATT p.I1083I DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Silent_p.I797I|DOCK5_uc003xei.2_Silent_p.I653I|DOCK5_uc003xej.2_RNA NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1083 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) GAAAGGAAATCGGCTTTAGAA 0.413 NOV 4856 broad.mit.edu 37 8 120431487 120431487 + Missense_Mutation SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr8:120431487C>T uc003yoq.2 + 4 900 c.679C>T c.(679-681)CGG>TGG p.R227W NM_002514 NP_002505 P48745 NOV_HUMAN nephroblastoma overexpressed precursor 227 TSP type-1. regulation of cell growth growth factor activity|insulin-like growth factor binding ovary(2)|skin(2)|kidney(1) 5 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GTTCTCCACCCGGGTCACCAA 0.532 CPSF1 29894 broad.mit.edu 37 8 145620691 145620691 + Missense_Mutation SNP G A A TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr8:145620691G>A uc003zcj.2 - 27 3130 c.3055C>T c.(3055-3057)CGC>TGC p.R1019C MIR939_hsa-mir-939|MI0005761_5'Flank|CPSF1_uc011lld.1_RNA NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 1019 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding skin(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) GCCGTGCAGCGCAGCGGGATC 0.667 UHRF2 115426 broad.mit.edu 37 9 6413501 6413501 + Missense_Mutation SNP A G G TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr9:6413501A>G uc003zjy.2 + 1 351 c.11A>G c.(10-12)CAG>CGG p.Q4R UHRF2_uc003zjz.2_RNA NM_152896 NP_690856 Q96PU4 UHRF2_HUMAN ubiquitin-like with PHD and ring finger domains 4 Ubiquitin-like. cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process nucleus DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129) ATGTGGATACAGGTTCGCACC 0.512 IPPK 64768 broad.mit.edu 37 9 95400529 95400529 + Missense_Mutation SNP G A A rs146634367 TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chr9:95400529G>A uc004asl.1 - 9 947 c.670C>T c.(670-672)CGG>TGG p.R224W IPPK_uc004ask.1_5'Flank NM_022755 NP_073592 Q9H8X2 IPPK_HUMAN inositol 1,3,4,5,6-pentakisphosphate 2-kinase 224 inositol or phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol pentakisphosphate 2-kinase activity ovary(2) 2 ACGGGGCTCCGGGCATCTTTG 0.562 CYBB 1536 broad.mit.edu 37 X 37668843 37668843 + Silent SNP T C C TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chrX:37668843T>C uc004ddr.2 + 12 1546 c.1485T>C c.(1483-1485)CAT>CAC p.H495H CYBB_uc011mkf.1_Silent_p.H463H|CYBB_uc011mkg.1_Silent_p.H228H NM_000397 NP_000388 P04839 CY24B_HUMAN cytochrome b-245 beta polypeptide 495 Cytoplasmic (Potential). electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 CTGTGCACCATGATGAGGAGA 0.398 SSX6 280657 broad.mit.edu 37 X 47970682 47970682 + Missense_Mutation SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chrX:47970682C>T uc004dix.1 + 4 345 c.223C>T c.(223-225)CGG>TGG p.R75W SSX6_uc011mlv.1_Missense_Mutation_p.R75W NM_173357 NP_775493 SubName: Full=Putative uncharacterized protein SSX1; 0 GCGTAATAAACGGGCCACAGA 0.408 GDPD2 54857 broad.mit.edu 37 X 69652284 69652284 + Missense_Mutation SNP C T T TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chrX:69652284C>T uc004dyh.2 + 13 1686 c.1435C>T c.(1435-1437)CGT>TGT p.R479C GDPD2_uc010nky.1_3'UTR|GDPD2_uc011mpk.1_Missense_Mutation_p.R530C|GDPD2_uc011mpl.1_Missense_Mutation_p.R400C|GDPD2_uc011mpm.1_Missense_Mutation_p.R400C NM_017711 NP_060181 Q9HCC8 GDPD2_HUMAN osteoblast differentiation promoting factor 479 Extracellular (Potential). glycerol metabolic process|lipid metabolic process cytoplasm|cytoskeleton|integral to membrane|plasma membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding ovary(2) 2 Renal(35;0.156) GCAGCAGATGCGTTACCCTAT 0.522 NXF3 56000 broad.mit.edu 37 X 102337213 102337213 + Missense_Mutation SNP G A A TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chrX:102337213G>A uc004eju.2 - 9 931 c.860C>T c.(859-861)ACG>ATG p.T287M NXF3_uc010noi.1_Missense_Mutation_p.T137M|NXF3_uc011mrw.1_Missense_Mutation_p.T287M|NXF3_uc011mrx.1_Missense_Mutation_p.T198M NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 287 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 CGAGAAGGTCGTGCACACTGG 0.542 IRS4 8471 broad.mit.edu 37 X 107978476 107978476 + Missense_Mutation SNP C G G TCGA-28-1753-01A-01D-1494-08 TCGA-28-1753-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx c7143f1e-458c-4129-aa91-61b8e4b90e53 d9fdefb1-7ff6-435d-8319-2c99e82383e6 g.chrX:107978476C>G uc004eoc.2 - 1 1132 c.1099G>C c.(1099-1101)GAG>CAG p.E367Q NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 367 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 CCTCCCGGCTCGAGCGGCACC 0.632