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 INPP5B 3633 broad.mit.edu 37 1 38339763 38339763 + Missense_Mutation SNP T T C TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr1:38339763T>C uc001ccg.1 - 18 1947 c.1853A>G c.(1852-1854)CAA>CGA p.Q618R INPP5B_uc009vvk.1_Missense_Mutation_p.Q559R|INPP5B_uc001ccf.1_Missense_Mutation_p.Q454R|INPP5B_uc010oij.1_RNA NM_005540 NP_005531 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 698 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding urinary_tract(1) 1 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) ACAGGGTACTTGTCCATTATG 0.458000 KIAA0467 23334 broad.mit.edu 37 1 43907245 43907245 + Missense_Mutation SNP C C T rs139028803 TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr1:43907245C>T uc001cjk.1 + 39 5347 c.4885C>T c.(4885-4887)CGC>TGC p.R1629C NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 2528 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGTTGCTCAGCGCTGGATGGA 0.582000 KIAA0467 23334 broad.mit.edu 37 1 43913551 43913551 + Nonsense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr1:43913551C>T uc001cjk.1 + 53 7237 c.6775C>T c.(6775-6777)CGA>TGA p.R2259* KIAA0467_uc001cjl.1_Nonsense_Mutation_p.R247* NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 3158 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGAGGGACTTCGACACCAGGA 0.552000 PDE4DIP 9659 broad.mit.edu 37 1 144922018 144922018 + Silent SNP T T C TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr1:144922018T>C uc001elw.3 - 9 1302 c.1011A>G c.(1009-1011)CAA>CAG p.Q337Q NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.Q403Q|PDE4DIP_uc001emc.1_Silent_p.Q337Q|PDE4DIP_uc001emd.1_Silent_p.Q337Q|PDE4DIP_uc001emb.1_Silent_p.Q500Q|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Silent_p.Q124Q NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 337 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GAGCTACCTGTTGCTGAGCTG 0.468000 T PDGFRB MPD ECM1 1893 broad.mit.edu 37 1 150483405 150483405 + Missense_Mutation SNP G G T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr1:150483405G>T uc001eus.2 + 6 638 c.439G>T c.(439-441)GCA>TCA p.A147S ECM1_uc010pce.1_Missense_Mutation_p.A76S|ECM1_uc010pcf.1_Missense_Mutation_p.A69S|ECM1_uc001eut.2_Missense_Mutation_p.A147S|ECM1_uc001euu.2_Missense_Mutation_p.A176S|ECM1_uc001euv.2_Missense_Mutation_p.A174S|ECM1_uc009wlu.2_5'UTR NM_004425 NP_004416 Q16610 ECM1_HUMAN extracellular matrix protein 1 isoform 1 147 angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade proteinaceous extracellular matrix laminin binding|protease binding|protein C-terminus binding|signal transducer activity ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GTCCTGGAATGCAGCCCAGCA 0.612000 PIGR 5284 broad.mit.edu 37 1 207112623 207112623 + Nonsense_Mutation SNP T T A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr1:207112623T>A uc001hez.2 - 3 413 c.229A>T c.(229-231)AAA>TAA p.K77* PIGR_uc009xbz.2_Nonsense_Mutation_p.K77* NM_002644 NP_002635 P01833 PIGR_HUMAN polymeric immunoglobulin receptor precursor 77 Ig-like V-type 1.|Extracellular (Potential). extracellular region|integral to plasma membrane protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 CCTGCATATTTGCTGGAGACG 0.592000 ALOX5 240 broad.mit.edu 37 10 45891347 45891347 + Nonsense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr10:45891347C>T uc001jce.2 + 3 493 c.394C>T c.(394-396)CGA>TGA p.R132* ALOX5_uc009xmt.2_Nonsense_Mutation_p.R132*|ALOX5_uc010qfg.1_Nonsense_Mutation_p.R132* NM_000698 NP_000689 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 132 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding ovary(1)|pancreas(1) 2 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) CAAGCAACACCGACGTAAAGA 0.453000 OR52N2 390077 broad.mit.edu 37 11 5841963 5841963 + Missense_Mutation SNP G G A rs147573020 TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr11:5841963G>A uc010qzp.1 + 1 398 c.398G>A c.(397-399)CGC>CAC p.R133H TRIM5_uc001mbq.1_Intron NM_001005174 NP_001005174 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, 133 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TACCCCTTACGCTATGCCACC 0.542000 TSGA10IP 254187 broad.mit.edu 37 11 65721100 65721100 + Missense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr11:65721100G>A uc001ogk.1 + 7 1246 c.1214G>A c.(1213-1215)CGG>CAG p.R405Q TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_RNA NM_152762 NP_689975 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein 405 Potential. 0 GAGCTGCGGCGGGCCCGGACA 0.716000 KCNA1 3736 broad.mit.edu 37 12 5021648 5021648 + Silent SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr12:5021648G>A uc001qnh.2 + 2 2209 c.1104G>A c.(1102-1104)GTG>GTA p.V368V NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 368 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GGGCGGTGGTGTCCATGACCA 0.547000 SOX5 6660 broad.mit.edu 37 12 23687217 23687217 + Missense_Mutation SNP T T A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr12:23687217T>A uc001rfw.2 - 15 2330 c.2228A>T c.(2227-2229)GAG>GTG p.E743V SOX5_uc001rfx.2_Missense_Mutation_p.E730V|SOX5_uc001rfy.2_Missense_Mutation_p.E622V|SOX5_uc001rfv.2_Missense_Mutation_p.E357V|SOX5_uc010siv.1_Missense_Mutation_p.E730V NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 743 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 TGGATCATCCTCTTCCTCGTC 0.433000 RIMBP2 23504 broad.mit.edu 37 12 130935771 130935771 + Missense_Mutation SNP G G C TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr12:130935771G>C uc001uil.2 - 5 586 c.422C>G c.(421-423)TCC>TGC p.S141C RIMBP2_uc001uim.2_Missense_Mutation_p.S49C NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 141 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TGCGCTACCGGATCTCGACAG 0.637000 CEBPE 1053 broad.mit.edu 37 14 23586911 23586911 + Missense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr14:23586911G>A uc001wiv.1 - 2 805 c.631C>T c.(631-633)CGG>TGG p.R211W NM_001805 NP_001796 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein epsilon 211 Basic motif. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) TTGCGCTCCCGCCTCAGCCGG 0.617000 FANCM 57697 broad.mit.edu 37 14 45650889 45650889 + Missense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr14:45650889G>A uc001wwd.3 + 16 4466 c.4367G>A c.(4366-4368)CGC>CAC p.R1456H FANCM_uc010anf.2_Missense_Mutation_p.R1430H|FANCM_uc001wwe.3_Missense_Mutation_p.R992H|FANCM_uc010ang.2_Missense_Mutation_p.R670H NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1456 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 GTCAAAAAGCGCAGATTTCCT 0.313000 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia SYNE2 23224 broad.mit.edu 37 14 64457685 64457685 + Missense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr14:64457685C>T uc001xgm.2 + 21 2728 c.2498C>T c.(2497-2499)GCG>GTG p.A833V SYNE2_uc001xgl.2_Missense_Mutation_p.A833V NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 833 Potential.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CTCATTGCAGCGTTGAAGAAC 0.363000 GALNTL1 57452 broad.mit.edu 37 14 69814660 69814660 + Missense_Mutation SNP A A G TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr14:69814660A>G uc010aqu.1 + 14 1573 c.1480A>G c.(1480-1482)ATG>GTG p.M494V GALNTL1_uc001xla.1_Missense_Mutation_p.M494V|GALNTL1_uc001xlb.1_Missense_Mutation_p.M494V NM_020692 NP_065743 Q8N428 GLTL1_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 494 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(1)|central_nervous_system(1) 2 all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656) CTCCACCTTAATGTCCTCCCC 0.592000 NEK9 91754 broad.mit.edu 37 14 75570609 75570609 + Missense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr14:75570609C>T uc001xrl.2 - 14 1821 c.1667G>A c.(1666-1668)TGT>TAT p.C556Y NEK9_uc001xrk.2_Missense_Mutation_p.C56Y NM_033116 NP_149107 Q8TD19 NEK9_HUMAN NIMA-related kinase 9 556 RCC1 4. cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity lung(2)|stomach(2)|ovary(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00718) ATTGAGTCCACAGGCCAGCAC 0.458000 C14orf174 161394 broad.mit.edu 37 14 77845346 77845346 + Missense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr14:77845346G>A uc001xtq.1 + 1 1585 c.1585G>A c.(1585-1587)GAA>AAA p.E529K TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank NM_001010860 NP_001010860 Q9P1V8 SAM15_HUMAN hypothetical protein LOC161394 529 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0278) TGAAGATGACGAAACCCAGCC 0.443000 PLK1 5347 broad.mit.edu 37 16 23695207 23695207 + Missense_Mutation SNP C C A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr16:23695207C>A uc002dlz.1 + 5 886 c.833C>A c.(832-834)GCC>GAC p.A278D NM_005030 NP_005021 P53350 PLK1_HUMAN polo-like kinase 1 278 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding lung(1)|skin(1) 2 GBM - Glioblastoma multiforme(48;0.0156) AACCCCGTGGCCGCCTCCCTC 0.557000 CNTROB 116840 broad.mit.edu 37 17 7836460 7836460 + Silent SNP A A C TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr17:7836460A>C uc002gjq.2 + 2 982 c.63A>C c.(61-63)TCA>TCC p.S21S TRAPPC1_uc002gjo.1_5'Flank|CNTROB_uc002gjp.2_Silent_p.S21S|CNTROB_uc002gjr.2_5'Flank NM_053051 NP_444279 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 21 centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1) 2 Prostate(122;0.173) TGAGTGATTCATCAGAACCCC 0.602000 ULK2 9706 broad.mit.edu 37 17 19748626 19748626 + Silent SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr17:19748626C>T uc002gwm.3 - 7 1043 c.534G>A c.(532-534)CCG>CCA p.P178P ULK2_uc002gwn.2_Silent_p.P178P NM_001142610 NP_001136082 Q8IYT8 ULK2_HUMAN unc-51-like kinase 2 178 Protein kinase. signal transduction ATP binding|protein binding|protein serine/threonine kinase activity skin(2)|large_intestine(1)|stomach(1) 4 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) CCATGTACATCGGGGATCCAC 0.383000 ERBB2 2064 broad.mit.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr17:37868208C>T uc002hso.2 + 8 1167 c.929C>T c.(928-930)TCC>TTC p.S310F ERBB2_uc002hsm.2_Missense_Mutation_p.S280F|ERBB2_uc010cwa.2_Missense_Mutation_p.S295F|ERBB2_uc002hsp.2_Missense_Mutation_p.S113F|ERBB2_uc010cwb.2_Missense_Mutation_p.S310F|ERBB2_uc010wek.1_Missense_Mutation_p.S34F|ERBB2_uc002hsl.2_Missense_Mutation_p.S280F|ERBB2_uc002hsn.1_Missense_Mutation_p.S310F NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 310 Extracellular (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.S310F(2)|p.S310Y(1) lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GACGTGGGATCCTGCACCCTC 0.582000 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) AXIN2 8313 broad.mit.edu 37 17 63537662 63537662 + Missense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr17:63537662G>A uc002jfi.2 - 4 1259 c.970C>T c.(970-972)CCT>TCT p.P324S AXIN2_uc010den.1_Missense_Mutation_p.P324S|AXIN2_uc002jfh.2_Missense_Mutation_p.P324S NM_004655 NP_004646 Q9Y2T1 AXIN2_HUMAN axin 2 324 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding central_nervous_system(1)|skin(1) 2 ACACGATAAGGAGGAATTCCA 0.473000 Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome HOOK2 29911 broad.mit.edu 37 19 12876768 12876768 + Silent SNP C C A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr19:12876768C>A uc002muy.2 - 16 1743 c.1572G>T c.(1570-1572)CTG>CTT p.L524L HOOK2_uc010xmq.1_5'UTR|HOOK2_uc002muz.2_Silent_p.L524L NM_013312 NP_037444 Q96ED9 HOOK2_HUMAN hook homolog 2 isoform 1 524 Sufficient for interaction with microtubules.|Potential. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding ovary(1)|breast(1)|skin(1) 3 CCTGCTCCTGCAGGGCTTTCT 0.647000 OREG0025273 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) OR10H1 26539 broad.mit.edu 37 19 15918646 15918646 + Missense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr19:15918646C>T uc002nbq.2 - 1 291 c.202G>A c.(202-204)GTC>ATC p.V68I NM_013940 NP_039228 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, 68 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATCTCGGAGACGGAGAGGGCG 0.642000 POU2F2 5452 broad.mit.edu 37 19 42597998 42597998 + Missense_Mutation SNP C C A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr19:42597998C>A uc002osp.2 - 12 1248 c.1181G>T c.(1180-1182)AGC>ATC p.S394I POU2F2_uc002osn.2_Missense_Mutation_p.S378I|POU2F2_uc002oso.2_Missense_Mutation_p.S167I|POU2F2_uc002osq.2_Missense_Mutation_p.S378I|POU2F2_uc002osr.1_Missense_Mutation_p.S394I NM_002698 NP_002689 P09086 PO2F2_HUMAN POU domain, class 2, transcription factor 2 394 Leucine-zipper. humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 Prostate(69;0.059) GCTCAGACTGCTGGAAGCTTG 0.617000 PNMAL2 57469 broad.mit.edu 37 19 46997652 46997652 + Missense_Mutation SNP G G C TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr19:46997652G>C uc002pes.2 - 1 1518 c.1071C>G c.(1069-1071)ATC>ATG p.I357M uc002peu.1_5'Flank NM_020709 NP_065760 Q9ULN7 PNML2_HUMAN PNMA-like 2 357 central_nervous_system(1) 1 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) CCAGCGACTCGATAACAGAAG 0.587000 ZNF808 388558 broad.mit.edu 37 19 53057818 53057818 + Missense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr19:53057818G>A uc010epq.1 + 5 1826 c.1649G>A c.(1648-1650)CGT>CAT p.R550H ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN zinc finger protein 808 550 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) GTTTTCATGCGTAATTCAGTC 0.398000 ZNF835 90485 broad.mit.edu 37 19 57175150 57175150 + Missense_Mutation SNP G G T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr19:57175150G>T uc010ygo.1 - 2 1483 c.1483C>A c.(1483-1485)CCC>ACC p.P495T ZNF835_uc010ygn.1_Missense_Mutation_p.P473T NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 CACTCGTAGGGCTTCTCCCCG 0.662000 ZNF544 27300 broad.mit.edu 37 19 58774032 58774032 + Missense_Mutation SNP C C A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr19:58774032C>A uc010euo.2 + 7 2534 c.2060C>A c.(2059-2061)CCC>CAC p.P687H ZNF544_uc010yhw.1_RNA|ZNF544_uc010yhx.1_Missense_Mutation_p.P659H|ZNF544_uc010yhy.1_Missense_Mutation_p.P659H|ZNF544_uc002qrt.3_Missense_Mutation_p.P545H|ZNF544_uc002qru.3_Missense_Mutation_p.P545H|uc002qrx.1_Intron NM_014480 NP_055295 Q6NX49 ZN544_HUMAN zinc finger protein 544 687 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) GGAGAGAAACCCTATGAATGT 0.468000 BIRC6 57448 broad.mit.edu 37 2 32824836 32824836 + Missense_Mutation SNP T T A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr2:32824836T>A uc010ezu.2 + 70 13995 c.13861T>A c.(13861-13863)TAT>AAT p.Y4621N NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4621 Ubiquitin-conjugating. anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) GGACACCCCTTATGCAAATGG 0.388000 POLR1A 25885 broad.mit.edu 37 2 86276114 86276114 + Nonsense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr2:86276114G>A uc002sqs.2 - 18 2906 c.2527C>T c.(2527-2529)CGA>TGA p.R843* POLR1A_uc010ytb.1_Nonsense_Mutation_p.R209* NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 843 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 CATTTTCCTCGGACCTCATCA 0.493000 ITGA4 3676 broad.mit.edu 37 2 182322476 182322476 + Missense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr2:182322476G>A uc002unu.2 + 1 858 c.95G>A c.(94-96)CGC>CAC p.R32H ITGA4_uc002unt.2_Missense_Mutation_p.R32H|ITGA4_uc010zfl.1_Missense_Mutation_p.R32H NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 32 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) CCGACCGGCCGCCCCTACAAC 0.697000 DYTN 391475 broad.mit.edu 37 2 207527632 207527632 + Missense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr2:207527632G>A uc002vbr.1 - 11 1745 c.1628C>T c.(1627-1629)CCA>CTA p.P543L NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN dystrotelin 543 plasma membrane zinc ion binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) CTTACCTGATGGCGTTTCTAG 0.418000 VIL1 7429 broad.mit.edu 37 2 219290514 219290514 + Silent SNP C C G TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr2:219290514C>G uc002via.2 + 4 392 c.327C>G c.(325-327)GGC>GGG p.G109G VIL1_uc010zke.1_Intron|VIL1_uc002vib.2_Silent_p.G109G|VIL1_uc002vic.1_Silent_p.G109G NM_007127 NP_009058 P09327 VILI_HUMAN villin 1 109 Core.|Necessary for homodimerization. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity ovary(1) 1 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTTCCGAGGCTACTTCAAGC 0.617000 C20orf186 149954 broad.mit.edu 37 20 31678530 31678530 + Silent SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr20:31678530G>A uc010zue.1 + 8 1083 c.1068G>A c.(1066-1068)GGG>GGA p.G356G NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 356 cytoplasm|extracellular region lipid binding 0 TTCCTCTGGGGATATTGGGAA 0.592000 DSCAM 1826 broad.mit.edu 37 21 42064772 42064772 + Missense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr21:42064772C>T uc002yyq.1 - 3 924 c.472G>A c.(472-474)GTC>ATC p.V158I DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 158 Ig-like C2-type 2.|Extracellular (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TCCCATGAGACGACAGTGATG 0.517000 POTEH 23784 broad.mit.edu 37 22 16287790 16287790 + Silent SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr22:16287790G>A uc010gqp.2 - 1 148 c.96C>T c.(94-96)TTC>TTT p.F32F POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 32 skin(1) 1 TGCACCAGGCGAAGCAGTGGC 0.582000 CHL1 10752 broad.mit.edu 37 3 370003 370003 + Silent SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr3:370003C>T uc003bou.2 + 5 622 c.351C>T c.(349-351)ATC>ATT p.I117I CHL1_uc003bot.2_Silent_p.I117I|CHL1_uc003bow.1_Silent_p.I117I|CHL1_uc011asi.1_Silent_p.I117I NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 117 Ig-like C2-type 1.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) AACTGGGAATCGCTATGTCAG 0.363000 PLCH1 23007 broad.mit.edu 37 3 155282805 155282805 + Missense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr3:155282805G>A uc011bok.1 - 7 1209 c.932C>T c.(931-933)GCT>GTT p.A311V PLCH1_uc011boj.1_Missense_Mutation_p.A311V|PLCH1_uc011bol.1_Missense_Mutation_p.A293V NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 311 PI-PLC X-box. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GTGAGAGGAAGCAATGTAGTA 0.488000 C4orf14 84273 broad.mit.edu 37 4 57839516 57839516 + Missense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr4:57839516C>T uc003hck.2 - 3 1388 c.1313G>A c.(1312-1314)AGA>AAA p.R438K NM_032313 NP_115689 Q8NC60 CD014_HUMAN hypothetical protein LOC84273 438 GTP binding ovary(1)|breast(1) 2 Glioma(25;0.08)|all_neural(26;0.181) CCTTCCAACTCTTCCTAGAAC 0.343000 DST 667 broad.mit.edu 37 6 56535574 56535574 + Missense_Mutation SNP T T C TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr6:56535574T>C uc003pdf.2 - 9 1008 c.980A>G c.(979-981)GAG>GGG p.E327G DST_uc003pcz.3_Missense_Mutation_p.E149G|DST_uc011dxj.1_Missense_Mutation_p.E178G|DST_uc011dxk.1_Missense_Mutation_p.E189G|DST_uc011dxl.1_Missense_Mutation_p.E178G|DST_uc003pde.2_Missense_Mutation_p.E265G NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 149 Actin-binding. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AGACATATCCTCTGACTCTCC 0.393000 FNDC1 84624 broad.mit.edu 37 6 159653822 159653822 + Missense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr6:159653822C>T uc010kjv.2 + 11 2478 c.2278C>T c.(2278-2280)CGG>TGG p.R760W FNDC1_uc010kjw.1_Missense_Mutation_p.R645W NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 760 Ser-rich. extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) TGCGCCATCACGGTCCACCAT 0.622000 PRKAR1B 5575 broad.mit.edu 37 7 720223 720223 + Silent SNP G G A rs142687236 byFrequency TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr7:720223G>A uc003siu.1 - 4 424 c.318C>T c.(316-318)ACC>ACT p.T106T PRKAR1B_uc003siv.2_Silent_p.T106T|PRKAR1B_uc003siw.1_Silent_p.T106T NM_002735 NP_002726 P31321 KAP1_HUMAN protein kinase, cAMP-dependent, regulatory, type 106 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity 0 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152) CGTCCTCCTCGGTGTACACCT 0.682000 GPR141 353345 broad.mit.edu 37 7 37780620 37780620 + Nonsense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr7:37780620C>T uc003tfm.1 + 1 625 c.625C>T c.(625-627)CAG>TAG p.Q209* uc003tfl.2_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN G protein-coupled receptor 141 209 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 GTTGATGGTGCAGAAGCTACG 0.413000 IMMP2L 83943 broad.mit.edu 37 7 110303717 110303717 + Missense_Mutation SNP G G T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr7:110303717G>T uc003vfq.1 - 6 912 c.469C>A c.(469-471)CAG>AAG p.Q157K IMMP2L_uc010ljr.1_Missense_Mutation_p.Q157K NM_032549 NP_115938 Q96T52 IMP2L_HUMAN IMP2 inner mitochondrial membrane protease-like 157 protein processing involved in protein targeting to mitochondrion|proteolysis integral to membrane|mitochondrial inner membrane peptidase complex|nucleus serine-type peptidase activity 0 UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173) TCCAATTTCTGCCAGCGCTCT 0.483000 GSDMC 56169 broad.mit.edu 37 8 130763792 130763792 + Nonsense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr8:130763792C>T uc003ysr.2 - 10 1821 c.939G>A c.(937-939)TGG>TGA p.W313* NM_031415 NP_113603 Q9BYG8 GSDMC_HUMAN melanoma-derived leucine zipper, extra-nuclear 313 mitochondrion ovary(2)|skin(1) 3 ACTTACTTTGCCAGAAGGGTT 0.468000 KDM4C 23081 broad.mit.edu 37 9 7174616 7174616 + Nonsense_Mutation SNP A A T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr9:7174616A>T uc003zkh.2 + 22 3638 c.3058A>T c.(3058-3060)AGA>TGA p.R1020* KDM4C_uc011lmk.1_Nonsense_Mutation_p.R765*|KDM4C_uc011lml.1_Nonsense_Mutation_p.R707* NM_015061 NP_055876 Q9H3R0 KDM4C_HUMAN jumonji domain containing 2C isoform 1 1020 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 CCAAGGGGAGAGAAAGAGACA 0.458000 DBC1 1620 broad.mit.edu 37 9 121930162 121930162 + Missense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr9:121930162C>T uc004bkc.2 - 8 1942 c.1486G>A c.(1486-1488)GAC>AAC p.D496N NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 496 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 AGGCGTGAGTCCATCTTCTGC 0.572000 BARHL1 56751 broad.mit.edu 37 9 135464778 135464778 + Missense_Mutation SNP G G A TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr9:135464778G>A uc004cbp.1 + 3 1045 c.853G>A c.(853-855)GCG>ACG p.A285T NM_020064 NP_064448 Q9BZE3 BARH1_HUMAN BarH-like homeobox 1 285 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05) CGGCCCCAGCGCGCCGCCGCC 0.721000 KAL1 3730 broad.mit.edu 37 X 8591678 8591678 + Missense_Mutation SNP T T C TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chrX:8591678T>C uc004csf.2 - 3 439 c.289A>G c.(289-291)AGG>GGG p.R97G NM_000216 NP_000207 P23352 KALM_HUMAN Kallmann syndrome 1 protein precursor 97 axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity ovary(3)|pancreas(1) 4 TGGTGTTTCCTCAGGTCCCCT 0.433000 RBBP7 5931 broad.mit.edu 37 X 16870202 16870202 + Missense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chrX:16870202C>T uc004cxt.2 - 9 1365 c.1007G>A c.(1006-1008)GGT>GAT p.G336D RBBP7_uc004cxs.1_Missense_Mutation_p.G380D|RBBP7_uc004cxu.2_Missense_Mutation_p.G327D NM_002893 NP_002884 Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 336 WD 6. cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex|NuRD complex protein binding upper_aerodigestive_tract(1)|ovary(1) 2 Hepatocellular(33;0.0997) GCGGTCAGTACCACTTGAAGC 0.398000 SMS 6611 broad.mit.edu 37 X 21985429 21985429 + Silent SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chrX:21985429C>T uc004dag.2 + 2 266 c.165C>T c.(163-165)AAC>AAT p.N55N SMS_uc011mjq.1_Translation_Start_Site|SMS_uc004daf.1_Silent_p.N55N NM_004595 NP_004586 P52788 SPSY_HUMAN spermine synthase 55 methionine metabolic process|spermine biosynthetic process cytosol spermidine synthase activity|spermine synthase activity ovary(1) 1 Spermine(DB00127) CAAACAAGAACGGCAGGTGAG 0.527000 IQSEC2 23096 broad.mit.edu 37 X 53280269 53280269 + Missense_Mutation SNP C C G TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chrX:53280269C>G uc004dsd.2 - 5 1690 c.1489G>C c.(1489-1491)GAG>CAG p.E497Q IQSEC2_uc004dsc.2_Missense_Mutation_p.E292Q NM_001111125 NP_001104595 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 isoform1 487 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity ovary(3) 3 TCCCGCTTCTCCAGCTGGGCT 0.552000 PCDH19 57526 broad.mit.edu 37 X 99662755 99662755 + Missense_Mutation SNP C C T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chrX:99662755C>T uc010nmz.2 - 1 2517 c.841G>A c.(841-843)GTC>ATC p.V281I PCDH19_uc004efw.3_Missense_Mutation_p.V281I|PCDH19_uc004efx.3_Missense_Mutation_p.V281I NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 281 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 CGGTCGTTGACGTAGCCATAG 0.602000 PDLIM5 10611 broad.mit.edu 37 4 95539323 95539324 + In_Frame_Ins INS - - GCA TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr4:95539322_95539323G>GGCA uc003hti.3 + 7 1239_1240 c.1088_1089G>GGCA c.(1087-1089)tgg>tGGCA p.W363W PDLIM5_uc011cdx.1_In_Frame_Ins_p.W260W|PDLIM5_uc003htj.3_In_Frame_Ins_p.W38W|PDLIM5_uc003htk.3_In_Frame_Ins_p.W392W|PDLIM5_uc011cdy.2_In_Frame_Ins_p.W241W|PDLIM5_uc003hth.3_In_Frame_Ins_p.W254W|PDLIM5_uc003htl.3_In_Frame_Ins_p.W38W NM_006457 NP_006448 Q96HC4 PDLI5_HUMAN Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA. 363 regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) TCACCAAGCTGGCAACGGCCAA 0.505 OR4P4 81300 broad.mit.edu 37 11 55406142 55406143 + Frame_Shift_Ins INS - - T TCGA-BR-7957-01A-11D-2201-08 TCGA-BR-7957-10A-01D-2201-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2cbf629c-ae30-41c6-855b-a96ebeb809dd 6f504eb7-0b62-48f9-b223-0a7e8ec9a606 g.chr11:55406141_55406142A>AT uc010rij.2 + 0 308_309 c.308_309A>AT c.(307-309)catfs p.H103fs NM_001004124 NP_001004124 Q8NGL7 OR4P4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA. 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H103L(2)|p.F105fs*4(1) autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 TTTACCACCCATTTTTTTGGAG 0.436