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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample AGRN 375790 broad.mit.edu 37 1 984698 984698 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:984698C>T uc001ack.1 + 25 4431 c.4381C>T c.(4381-4383)CGG>TGG p.R1461W NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 1461 Laminin G-like 1. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GGAGCTGTCCCGGCACTGGCG 0.687 NaN 0 0 0 1 0 15 24 MXRA8 54587 broad.mit.edu 37 1 1290868 1290868 + Missense_Mutation SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:1290868G>C uc001aew.2 - 3 369 c.338C>G c.(337-339)TCG>TGG p.S113W MXRA8_uc001aex.3_Missense_Mutation_p.S113W|MXRA8_uc001aey.3_Missense_Mutation_p.S113W|MXRA8_uc010nyl.1_Missense_Mutation_p.S113W|MXRA8_uc001aez.2_Intron|MXRA8_uc001afa.2_Missense_Mutation_p.S104W NM_032348 NP_115724 Q9BRK3 MXRA8_HUMAN matrix-remodelling associated 8 precursor 113 Extracellular (Potential).|Ig-like V-type 1. integral to membrane 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GTCGAAGGCCGAGGCCGAGAG 0.468 NaN 0 0 0 1 0 9 5 MEGF6 1953 broad.mit.edu 37 1 3417236 3417236 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:3417236G>A uc001akl.2 - 21 2895 c.2668C>T c.(2668-2670)CTG>TTG p.L890L MEGF6_uc001akk.2_Silent_p.L785L NM_001409 NP_001400 O75095 MEGF6_HUMAN EGF-like-domain, multiple 3 precursor 890 EGF-like 15. extracellular region calcium ion binding large_intestine(1) 1 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GCCTCACACAGACACAGGCCG 0.602 NaN 0 0 0 1 0 4 7 KCNAB2 8514 broad.mit.edu 37 1 6158568 6158568 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:6158568C>T uc009vlv.1 + 16 1173 c.1038C>T c.(1036-1038)TCC>TCT p.S346S KCNAB2_uc001alv.1_Silent_p.S346S|KCNAB2_uc001alw.1_Silent_p.S332S|KCNAB2_uc001alx.1_Silent_p.S346S|KCNAB2_uc001aly.1_Silent_p.S394S|KCNAB2_uc009vlw.1_Silent_p.S279S|KCNAB2_uc001alu.2_3'UTR NM_003636 NP_003627 Q13303 KCAB2_HUMAN potassium voltage-gated channel, shaker-related 346 cytoplasm|integral to membrane|juxtaparanode region of axon oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity 0 Ovarian(185;0.0634) all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649) TGTCATCTTCCATTATCCACG 0.537 NaN 0 0 0 1 0 17 30 LRRC41 10489 broad.mit.edu 37 1 46746887 46746887 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:46746887G>A uc001cpn.2 - 5 1710 c.1666C>T c.(1666-1668)CGT>TGT p.R556C LRRC41_uc010omb.1_Missense_Mutation_p.R556C NM_006369 NP_006360 Q15345 LRC41_HUMAN MUF1 protein 556 ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(166;0.155) TGGTCAACACGAATAGAGAGG 0.597 NaN 0 0 0 1 0 34 66 LRRC7 57554 broad.mit.edu 37 1 70504295 70504295 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:70504295G>A uc001dep.2 + 19 2704 c.2674G>A c.(2674-2676)GTA>ATA p.V892I LRRC7_uc009wbg.2_Missense_Mutation_p.V176I|LRRC7_uc001deq.2_Missense_Mutation_p.V133I NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 892 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TTCTCCAGGCGTACCATGGGA 0.423 NaN 0 0 0 1 0 48 82 TTLL7 79739 broad.mit.edu 37 1 84399296 84399296 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:84399296G>A uc001djc.2 - 9 1438 c.1042C>T c.(1042-1044)CTG>TTG p.L348L TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA NM_024686 NP_078962 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 348 TTL. cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity ovary(1) 1 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) CTTACCTCCAGAAGCCATGGC 0.373 NaN 0 0 0 1 0 67 71 DBT 1629 broad.mit.edu 37 1 100701061 100701061 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:100701061C>T uc001dta.2 - 3 215 c.182G>A c.(181-183)CGT>CAT p.R61H DBT_uc010oug.1_Translation_Start_Site NM_001918 NP_001909 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase 61 branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding pancreas(1) 1 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) AACCTGTCCACGGAGAGCTTC 0.333 NaN 0 0 0 1 0 8 72 SCNM1 79005 broad.mit.edu 37 1 151141526 151141526 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:151141526G>A uc001ewz.2 + 7 770 c.658G>A c.(658-660)GAT>AAT p.D220N SCNM1_uc009wmn.2_RNA NM_024041 NP_076946 Q9BWG6 SCNM1_HUMAN sodium channel modifier 1 220 mRNA processing|RNA splicing nucleus metal ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GTTTGACTCTGATGAGGAGGA 0.423 NaN 0 0 0 1 0 52 68 HRNR 388697 broad.mit.edu 37 1 152188366 152188366 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:152188366G>A uc001ezt.1 - 3 5815 c.5739C>T c.(5737-5739)CAC>CAT p.H1913H NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 1913 21. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGCTAGATCCGTGTTGTTCAC 0.557 NaN 0 0 0 1 0 65 875 FCRL2 79368 broad.mit.edu 37 1 157739894 157739894 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:157739894G>A uc001fre.2 - 4 416 c.357C>T c.(355-357)ATC>ATT p.I119I FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Silent_p.I119I|FCRL2_uc009wsp.2_Intron|FCRL2_uc010pia.1_Silent_p.I119I NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 119 Extracellular (Potential).|Ig-like C2-type 2. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GACCCCCTTCGATGGGCTGGA 0.527 NaN 0 0 0 1 0 40 41 SPTA1 6708 broad.mit.edu 37 1 158585162 158585162 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:158585162C>T uc001fst.1 - 48 6831 c.6632G>A c.(6631-6633)CGT>CAT p.R2211H NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2211 Spectrin 21. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GGTTAGTTGACGCTTCATCGC 0.483 NaN 0 0 0 1 0 104 85 LY9 4063 broad.mit.edu 37 1 160769712 160769712 + Silent SNP T T A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:160769712T>A uc001fwu.2 + 2 344 c.294T>A c.(292-294)ATT>ATA p.I98I LY9_uc001fwt.2_Silent_p.I98I|LY9_uc010pjs.1_Silent_p.I98I|LY9_uc001fwv.2_Silent_p.I98I|LY9_uc001fww.2_Silent_p.I98I|LY9_uc001fwx.2_Silent_p.I98I|LY9_uc001fwy.1_5'UTR NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 98 Extracellular (Potential).|Ig-like V-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) ATGTAACCATTATGGTCAAAA 0.468 NaN 0 0 0 1 0 70 90 ATF6 22926 broad.mit.edu 37 1 161789557 161789557 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:161789557G>A uc001gbr.2 + 8 1111 c.1044G>A c.(1042-1044)CTG>CTA p.L348L ATF6_uc001gbq.1_Silent_p.L348L NM_007348 NP_031374 P18850 ATF6A_HUMAN activating transcription factor 6 348 Cytoplasmic (Potential).|Leucine-zipper. positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|skin(1) 3 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) ACGAGCAACTGAAGAAAGAAA 0.448 NaN 0 0 0 1 0 19 27 RASAL2 9462 broad.mit.edu 37 1 178063703 178063703 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:178063703G>A uc001glq.2 + 1 840 c.76G>A c.(76-78)GAC>AAC p.D26N RASAL2_uc009wxb.2_Missense_Mutation_p.D26N|LOC100302401_uc001gln.1_5'Flank|LOC100302401_uc001glo.1_5'Flank|RASAL2_uc009wxa.2_RNA NM_170692 NP_733793 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 2 Error:Variant_position_missing_in_Q9UJF2_after_alignment negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 GCTGGAGTCCGACTCGCCGCT 0.706 NaN 0 0 0 1 0 11 6 TMCC2 9911 broad.mit.edu 37 1 205210828 205210828 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:205210828G>A uc001hbz.1 + 3 847 c.403G>A c.(403-405)GCC>ACC p.A135T TMCC2_uc010prf.1_Missense_Mutation_p.A57T NM_014858 NP_055673 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 135 integral to membrane protein binding pancreas(1) 1 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) CGTCTCCTACGCCATGTCCCT 0.662 NaN 0 0 0 1 0 19 35 TP53BP2 7159 broad.mit.edu 37 1 223984287 223984287 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:223984287C>T uc010pvb.1 - 13 2246 c.1954G>A c.(1954-1956)GGT>AGT p.G652S TP53BP2_uc001hod.2_Missense_Mutation_p.G523S|TP53BP2_uc010puz.1_5'UTR|TP53BP2_uc010pva.1_Missense_Mutation_p.G291S NM_001031685 NP_001026855 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 isoform 1 646 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(131;0.0958) ACAGGCTTACCATATACTAAT 0.398 NaN 0 0 0 1 0 34 77 OBSCN 84033 broad.mit.edu 37 1 228399647 228399647 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:228399647C>T uc009xez.1 + 2 207 c.163C>T c.(163-165)CGC>TGC p.R55C OBSCN_uc001hsn.2_Missense_Mutation_p.R55C|uc001hsm.1_Intron NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 55 Ig-like 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) GGCCGGCGCGCGCTTCCGTCT 0.687 NaN 0 0 0 1 0 11 6 RYR2 6262 broad.mit.edu 37 1 237756779 237756779 + Missense_Mutation SNP T T A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:237756779T>A uc001hyl.1 + 33 4399 c.4279T>A c.(4279-4281)TAT>AAT p.Y1427N NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1427 Cytoplasmic (By similarity).|B30.2/SPRY 3.|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) TTCACAGTACTATTACTCAGT 0.388 NaN 0 0 0 1 0 12 46 PPPDE1 51029 broad.mit.edu 37 1 244868861 244868861 + Missense_Mutation SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:244868861C>G uc001iao.2 + 5 619 c.355C>G c.(355-357)CTT>GTT p.L119V PPPDE1_uc001iap.2_Missense_Mutation_p.L86V|PPPDE1_uc001iaq.1_RNA NM_016076 NP_057160 Q9BSY9 PPDE1_HUMAN PPPDE peptidase domain containing 1 119 PPPDE peptidase. breast(3) 3 TCTGTAGATTCTTTGTGGGAA 0.522 NaN 0 0 0 1 0 55 69 OR2T8 343172 broad.mit.edu 37 1 248084484 248084484 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:248084484G>A uc010pzc.1 + 1 165 c.165G>A c.(163-165)ACG>ACA p.T55T NM_001005522 NP_001005522 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, 55 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGCTCCACACGCCCATGTACT 0.522 NaN 0 0 0 1 0 62 95 CUBN 8029 broad.mit.edu 37 10 16883020 16883020 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr10:16883020C>T uc001ioo.2 - 61 9742 c.9690G>A c.(9688-9690)GCG>GCA p.A3230A NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3230 CUB 24. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CAGCCAAGTTCGCATTTTCAC 0.368 NaN 0 0 0 1 0 14 15 MASTL 84930 broad.mit.edu 37 10 27459681 27459681 + Missense_Mutation SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr10:27459681C>G uc001itm.2 + 8 2432 c.1793C>G c.(1792-1794)TCT>TGT p.S598C MASTL_uc001itl.2_Missense_Mutation_p.S598C|MASTL_uc009xkw.1_Missense_Mutation_p.S598C|MASTL_uc009xkx.1_RNA NM_032844 NP_116233 Q96GX5 GWL_HUMAN microtubule associated serine/threonine 598 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 AAAGAATCCTCTTTTGAAGAA 0.368 NaN 0 0 0 1 0 10 23 RET 5979 broad.mit.edu 37 10 43623613 43623613 + Missense_Mutation SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr10:43623613G>C uc001jal.2 + 20 3431 c.3241G>C c.(3241-3243)GAT>CAT p.D1081H NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 1081 Cytoplasmic (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) CACGAGAGCTGATGGCACTAA 0.438 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma 0 0 0 1 0 41 82 ERCC6 2074 broad.mit.edu 37 10 50740776 50740776 + Nonsense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr10:50740776G>A uc001jhs.3 - 2 389 c.235C>T c.(235-237)CAG>TAG p.Q79* PGBD3_uc009xoe.2_Nonsense_Mutation_p.Q79*|PGBD3_uc001jhu.2_Nonsense_Mutation_p.Q79* NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 79 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 GCCTGGATCTGATGTCGGTCG 0.622 NaN Direct_reversal_of_damage|NER 0 0 0 1 0 25 33 PRF1 5551 broad.mit.edu 37 10 72360386 72360386 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr10:72360386C>T uc009xqg.2 - 2 434 c.273G>A c.(271-273)GCG>GCA p.A91A PRF1_uc001jrf.3_Silent_p.A91A NM_001083116 NP_001076585 P14222 PERF_HUMAN perforin 1 precursor 91 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 AGTTGGTGAGCGCCAGAGGCA 0.657 NaN M various leukaemia|lymphoma Type 2 familial hemophagocytic lymphohistiocytosis Familial_Hemophagocytic_Lymphohistiocytosis 0 0 0 1 0 18 16 SORCS3 22986 broad.mit.edu 37 10 106916969 106916969 + Missense_Mutation SNP A A T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr10:106916969A>T uc001kyi.1 + 10 1783 c.1556A>T c.(1555-1557)AAC>ATC p.N519I NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 519 BNR 4.|Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) ATCACTTACAACAAAGGCAGG 0.512 NaN 0 0 0 1 0 27 24 C10orf82 143379 broad.mit.edu 37 10 118424359 118424359 + Missense_Mutation SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr10:118424359C>G uc001lcr.2 - 4 429 c.374G>C c.(373-375)AGA>ACA p.R125T C10orf82_uc001lcs.1_3'UTR NM_144661 NP_653262 Q8WW14 CJ082_HUMAN hypothetical protein LOC143379 125 0 all cancers(201;0.0143) GACAGTGTATCTCGTGCCACA 0.522 NaN 0 0 0 1 0 49 64 KNDC1 85442 broad.mit.edu 37 10 135020668 135020668 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr10:135020668G>A uc001llz.1 + 20 3608 c.3607G>A c.(3607-3609)GAG>AAG p.E1203K KNDC1_uc001lma.1_3'UTR NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 1203 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CTGGGGCCTGGAGCCCTGCAC 0.657 NaN 0 0 0 1 0 4 8 PLEKHA7 144100 broad.mit.edu 37 11 16838384 16838384 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr11:16838384C>T uc001mmo.2 - 11 1844 c.1829G>A c.(1828-1830)GGG>GAG p.G610E PLEKHA7_uc010rcu.1_Missense_Mutation_p.G610E|PLEKHA7_uc010rcv.1_Missense_Mutation_p.G184E|PLEKHA7_uc001mmn.2_Missense_Mutation_p.G318E NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A 610 Interaction with CTNND1. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding skin(2)|central_nervous_system(1) 3 TGGAGAATCCCCCAGCGAGAT 0.657 NaN 0 0 0 1 0 49 5 ALX4 60529 broad.mit.edu 37 11 44296955 44296955 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr11:44296955G>A uc001myb.2 - 2 824 c.720C>T c.(718-720)GAC>GAT p.D240D NM_021926 NP_068745 Q9H161 ALX4_HUMAN aristaless-like homeobox 4 240 Homeobox. hair follicle development 0 GCGCATACACGTCTGGGTAGT 0.617 NaN 0 0 0 1 0 106 13 PATL1 219988 broad.mit.edu 37 11 59415362 59415362 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr11:59415362C>T uc001noe.3 - 15 1901 c.1758G>A c.(1756-1758)CAG>CAA p.Q586Q PATL1_uc009yms.1_Silent_p.Q556Q NM_152716 NP_689929 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 586 Region C. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding ovary(1) 1 TACACATGATCTGTACAAAGT 0.438 NaN 0 0 0 1 0 20 30 MS4A12 54860 broad.mit.edu 37 11 60264894 60264894 + Missense_Mutation SNP G G T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr11:60264894G>T uc001npr.2 + 2 160 c.103G>T c.(103-105)GGT>TGT p.G35C MS4A12_uc009ynb.2_Missense_Mutation_p.G35C NM_017716 NP_060186 Q9NXJ0 M4A12_HUMAN membrane-spanning 4-domains, subfamily A, member 35 Cytoplasmic (Potential). integral to membrane receptor activity 0 ACAGCCTCTGGGTTCAATCAA 0.507 NaN 1 0 4.81439e-37 1 5.01864e-37 80 86 INPPL1 3636 broad.mit.edu 37 11 71949104 71949104 + Missense_Mutation SNP G G T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr11:71949104G>T uc001osf.2 + 27 3718 c.3571G>T c.(3571-3573)GGG>TGG p.G1191W INPPL1_uc001osg.2_Missense_Mutation_p.G949W NM_001567 NP_001558 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 1191 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding skin(2)|ovary(1)|breast(1) 4 CCTGCAGGGCGGGCGGGCCAG 0.657 NaN OREG0021191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 0.000586117 1 0.000589545 23 19 PPME1 51400 broad.mit.edu 37 11 73958134 73958134 + Silent SNP A A G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr11:73958134A>G uc001ouw.2 + 11 1074 c.975A>G c.(973-975)AGA>AGG p.R325R PPME1_uc009yty.2_Silent_p.R209R|PPME1_uc001oux.2_Silent_p.R138R NM_016147 NP_057231 Q9Y570 PPME1_HUMAN protein phosphatase methylesterase 1 325 protein demethylation carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity 0 Breast(11;3.29e-05) GTGTTGATAGATTGGATAAAG 0.348 NaN 0 0 0 1 0 15 17 P4HA3 283208 broad.mit.edu 37 11 74009284 74009284 + Missense_Mutation SNP C C G rs142768884 byFrequency TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr11:74009284C>G uc001ouz.2 - 4 733 c.690G>C c.(688-690)TTG>TTC p.L230F P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Missense_Mutation_p.L230F NM_182904 NP_878907 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha III subunit 230 TPR. endoplasmic reticulum lumen iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity skin(1) 1 Breast(11;2.31e-05) CCAAGTGATCCAAGGCATCTT 0.413 NaN 0 0 0 1 0 48 87 FAT3 120114 broad.mit.edu 37 11 92531924 92531924 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr11:92531924C>T uc001pdj.3 + 9 5762 c.5745C>T c.(5743-5745)CCC>CCT p.P1915P NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1915 Cadherin 17.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTGAGGTACCCCCTGAACTGA 0.418 NaN TCGA Ovarian(4;0.039) 0 0 0 1 0 25 3 BUD13 84811 broad.mit.edu 37 11 116633513 116633513 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr11:116633513G>A uc001ppn.2 - 4 826 c.792C>T c.(790-792)CTC>CTT p.L264L BUD13_uc001ppo.2_Intron|BUD13_uc009yzc.2_Silent_p.L264L NM_032725 NP_116114 Q9BRD0 BUD13_HUMAN BUD13 homolog isoform 1 264 Arg-rich. large_intestine(1)|pancreas(1) 2 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) GGGCCCTTCTGAGTTGCTGTG 0.517 NaN 0 0 0 1 0 140 14 GRIN2B 2904 broad.mit.edu 37 12 13716716 13716716 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr12:13716716G>A uc001rbt.2 - 13 3635 c.3456C>T c.(3454-3456)ACC>ACT p.T1152T NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 1152 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGTAGATGTCGGTCAGGTCTA 0.577 NaN 0 0 0 1 0 66 33 MCRS1 10445 broad.mit.edu 37 12 49957275 49957275 + Missense_Mutation SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr12:49957275C>G uc001ruk.1 - 7 803 c.612G>C c.(610-612)CAG>CAC p.Q204H MCRS1_uc001rui.1_Missense_Mutation_p.Q217H|MCRS1_uc001ruj.1_Missense_Mutation_p.Q191H|MCRS1_uc001rul.1_Missense_Mutation_p.Q204H|MCRS1_uc009zlj.1_Missense_Mutation_p.Q13H|MCRS1_uc001rum.1_Missense_Mutation_p.Q191H|MCRS1_uc001run.1_Missense_Mutation_p.Q204H NM_006337 NP_006328 Q96EZ8 MCRS1_HUMAN microspherule protein 1 isoform 1 204 DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|MLL1 complex|nucleolus protein binding large_intestine(1) 1 GGGCCTTGCTCTGGATGGCTG 0.597 NaN 0 0 0 1 0 6 13 KIF5A 3798 broad.mit.edu 37 12 57963097 57963097 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr12:57963097G>A uc001sor.1 + 10 1086 c.878G>A c.(877-879)GGG>GAG p.G293E KIF5A_uc010srr.1_Missense_Mutation_p.G204E NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 293 Kinesin-motor.|Microtubule-binding. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 GACTCTCTCGGGGGAAACTGC 0.478 NaN 0 0 0 1 0 22 71 MYF5 4617 broad.mit.edu 37 12 81110945 81110945 + Nonsense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr12:81110945C>T uc001szg.2 + 1 238 c.103C>T c.(103-105)CGA>TGA p.R35* NM_005593 NP_005584 P13349 MYF5_HUMAN myogenic factor 5 35 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(1) 1 GTTTGTGCCGCGAGTGGCTGC 0.622 NaN 0 0 0 1 0 46 19 TRPV4 59341 broad.mit.edu 37 12 110238434 110238434 + Missense_Mutation SNP T T C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr12:110238434T>C uc001tpj.1 - 4 937 c.842A>G c.(841-843)TAC>TGC p.Y281C TRPV4_uc001tpg.1_Missense_Mutation_p.Y247C|TRPV4_uc001tph.1_Intron|TRPV4_uc001tpi.1_Intron|TRPV4_uc001tpk.1_Missense_Mutation_p.Y281C|TRPV4_uc001tpl.1_Missense_Mutation_p.Y281C NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 281 Cytoplasmic (Potential). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 AAAGTAGAAGTAGCCCCCCTC 0.612 NaN 0 0 0 1 0 61 28 SACS 26278 broad.mit.edu 37 13 23908464 23908464 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr13:23908464C>T uc001uon.2 - 10 10140 c.9551G>A c.(9550-9552)CGC>CAC p.R3184H SACS_uc001uoo.2_Missense_Mutation_p.R3037H|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 3184 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CAAGTCTTTGCGGGATGGAAT 0.343 NaN 0 0 0 1 0 11 13 PABPC3 5042 broad.mit.edu 37 13 25671775 25671775 + Nonsense_Mutation SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr13:25671775C>G uc001upy.2 + 1 1500 c.1439C>G c.(1438-1440)TCA>TGA p.S480* NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 480 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) GCTAACACATCAACACAGACA 0.433 NaN 0 0 0 1 0 31 55 FLT1 2321 broad.mit.edu 37 13 29012388 29012388 + Silent SNP C C T rs116486684 by1000genomes TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr13:29012388C>T uc001usb.3 - 4 768 c.483G>A c.(481-483)ACG>ACA p.T161T FLT1_uc010aar.1_Silent_p.T161T|FLT1_uc001usc.3_Silent_p.T161T|FLT1_uc010tdp.1_Silent_p.T161T NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 161 Ig-like C2-type 2.|Extracellular (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TGTTAGGTGACGTAACCCGGC 0.398 NaN 0 0 0 1 0 11 11 HS6ST3 266722 broad.mit.edu 37 13 96743176 96743176 + Silent SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr13:96743176C>G uc001vmw.2 + 1 84 c.60C>G c.(58-60)GTC>GTG p.V20V NM_153456 NP_703157 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 20 Helical; Signal-anchor for type II membrane protein; (Potential). integral to membrane sulfotransferase activity ovary(1)|skin(1) 2 all_neural(89;0.0878)|Medulloblastoma(90;0.163) TCTTCGTGGTCATCATGTACC 0.438 NaN 0 0 0 1 0 16 27 COL4A2 1284 broad.mit.edu 37 13 111164350 111164350 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr13:111164350C>T uc001vqx.2 + 48 5240 c.4951C>T c.(4951-4953)CGC>TGC p.R1651C NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 1651 Collagen IV NC1. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) AGAGGACTTCCGCGCCACACC 0.617 NaN 0 0 0 1 0 34 74 OR6S1 341799 broad.mit.edu 37 14 21108981 21108981 + Silent SNP T T C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr14:21108981T>C uc001vxv.1 - 1 870 c.870A>G c.(868-870)CCA>CCG p.P290P NM_001001968 NP_001001968 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, 290 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) CATAGATGAATGGATTCAACA 0.433 NaN 0 0 0 1 0 78 102 FBXO34 55030 broad.mit.edu 37 14 55817949 55817949 + Missense_Mutation SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr14:55817949G>C uc001xbu.2 + 2 1086 c.841G>C c.(841-843)GAC>CAC p.D281H FBXO34_uc001xbv.2_RNA|FBXO34_uc010aoo.2_Missense_Mutation_p.D281H NM_017943 NP_060413 Q9NWN3 FBX34_HUMAN F-box only protein 34 281 ovary(2)|lung(2)|skin(1) 5 CCGTGTCCTTGACATGGTAGC 0.552 NaN 0 0 0 1 0 88 81 ATP10A 57194 broad.mit.edu 37 15 25969114 25969114 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr15:25969114G>A uc010ayu.2 - 6 1140 c.1034C>T c.(1033-1035)CCC>CTC p.P345L NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 345 Extracellular (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) ATCAGACTTGGGGACATAAAA 0.373 NaN 0 0 0 1 0 44 74 GABRA5 2558 broad.mit.edu 37 15 27126006 27126006 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr15:27126006C>T uc001zbd.1 + 5 439 c.100C>T c.(100-102)CCA>TCA p.P34S GABRB3_uc001zbb.2_Intron NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 34 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTCACAGATGCCAACCAGTTC 0.418 NaN 0 0 0 1 0 21 39 RFX7 64864 broad.mit.edu 37 15 56388173 56388173 + Missense_Mutation SNP C C T rs140370063 by1000genomes TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr15:56388173C>T uc010bfn.2 - 9 1753 c.1753G>A c.(1753-1755)GAA>AAA p.E585K RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.E399K NM_022841 NP_073752 Q2KHR2 RFX7_HUMAN regulatory factor X domain containing 2 488 regulation of transcription, DNA-dependent nucleus DNA binding 0 ATGACACCTTCATTTGAAGGT 0.458 NaN 0 0 0 1 0 21 14 C15orf27 123591 broad.mit.edu 37 15 76496330 76496330 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr15:76496330C>T uc002bbq.2 + 11 1425 c.1270C>T c.(1270-1272)CCT>TCT p.P424S C15orf27_uc010bkp.2_Missense_Mutation_p.P240S|C15orf27_uc002bbr.2_Missense_Mutation_p.P240S|C15orf27_uc002bbs.2_Missense_Mutation_p.P102S NM_152335 NP_689548 Q2M3C6 CO027_HUMAN hypothetical protein LOC123591 424 integral to membrane 0 TGAGCCCGGCCCTTCTCCCCC 0.701 NaN 0 0 0 1 0 28 38 MKL2 57496 broad.mit.edu 37 16 14339510 14339510 + Missense_Mutation SNP A A T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr16:14339510A>T uc010uza.1 + 11 1360 c.1205A>T c.(1204-1206)GAC>GTC p.D402V MKL2_uc002dcg.2_Missense_Mutation_p.D402V|MKL2_uc002dcj.2_5'Flank NM_014048 NP_054767 Q9ULH7 MKL2_HUMAN megakaryoblastic leukemia 2 protein 391 SAP. cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity ovary(3)|kidney(1)|pancreas(1) 5 AGCCTGGATGACTTAAAGGTG 0.433 NaN 0 0 0 1 0 61 94 SLC9A5 6553 broad.mit.edu 37 16 67289057 67289057 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr16:67289057C>T uc002esm.2 + 3 687 c.624C>T c.(622-624)GGC>GGT p.G208G SLC9A5_uc010cee.2_5'UTR|SLC9A5_uc010vji.1_5'UTR NM_004594 NP_004585 Q14940 SL9A5_HUMAN solute carrier family 9 (sodium/hydrogen 208 Helical; (Potential). regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity ovary(1)|pancreas(1) 2 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) TCGTCTTTGGCGAGTCCCTGC 0.592 NaN 0 0 0 1 0 67 72 MYH1 4619 broad.mit.edu 37 17 10398335 10398335 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr17:10398335C>T uc002gmo.2 - 37 5473 c.5379G>A c.(5377-5379)ACG>ACA p.T1793T uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1793 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 GGTCCTTCACCGTCTGTTCCA 0.557 NaN 0 0 0 1 0 119 12 ALKBH5 54890 broad.mit.edu 37 17 18088053 18088053 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr17:18088053G>A uc010cpw.2 + 1 1187 c.496G>A c.(496-498)GAG>AAG p.E166K uc002gsn.2_RNA|ALKBH5_uc010cpx.2_5'Flank NM_017758 NP_060228 Q6P6C2 ALKB5_HUMAN alkB, alkylation repair homolog 5 166 integral to membrane metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 all_neural(463;0.228) CGAGATCCCCGAGTGGGTGCA 0.672 NaN 0 0 0 1 0 45 3 GPR179 440435 broad.mit.edu 37 17 36492872 36492872 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr17:36492872G>A uc002hpz.2 - 4 1237 c.1216C>T c.(1216-1218)CGC>TGC p.R406C NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 406 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TTGTTCCGGCGGCAGCGGTAG 0.577 NaN 0 0 0 1 0 9 11 GSDMA 284110 broad.mit.edu 37 17 38133155 38133155 + Silent SNP C C T rs138595723 by1000genomes TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr17:38133155C>T uc002htl.1 + 12 1300 c.1182C>T c.(1180-1182)GAC>GAT p.D394D GSDMA_uc002htm.1_Silent_p.D394D NM_178171 NP_835465 Q96QA5 GSDMA_HUMAN gasdermin 1 394 apoptosis|induction of apoptosis perinuclear region of cytoplasm 0 CCCTTGGGGACGAGGAGCTGA 0.597 NaN 0 0 0 1 0 24 104 PTRF 284119 broad.mit.edu 37 17 40556892 40556892 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr17:40556892C>T uc002hzo.2 - 2 1145 c.986G>A c.(985-987)CGC>CAC p.R329H PTRF_uc010wgi.1_Missense_Mutation_p.R311H NM_012232 NP_036364 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 329 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(1) 1 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) CTGGCCCTCGCGGATCTTCTT 0.677 NaN 0 0 0 1 0 24 66 CDC27 996 broad.mit.edu 37 17 45247383 45247383 + Missense_Mutation SNP A A C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr17:45247383A>C uc002ild.3 - 4 404 c.277T>G c.(277-279)TCT>GCT p.S93A CDC27_uc002ile.3_Missense_Mutation_p.S93A|CDC27_uc002ilf.3_Missense_Mutation_p.S93A|CDC27_uc010wkp.1_Missense_Mutation_p.S32A|CDC27_uc010wkq.1_RNA NM_001256 NP_001247 P30260 CDC27_HUMAN cell division cycle protein 27 isoform 2 93 TPR 1. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding lung(2)|breast(2)|ovary(1) 5 ACTCCACCAGATAAGATTTGT 0.313 NaN 0 0 0 1 0 8 142 CDK5RAP3 80279 broad.mit.edu 37 17 46053301 46053301 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr17:46053301G>A uc002imr.2 + 8 804 c.720G>A c.(718-720)GAG>GAA p.E240E CDK5RAP3_uc010wlc.1_Silent_p.E260E|CDK5RAP3_uc002imq.1_Silent_p.E15E|CDK5RAP3_uc002imu.2_Silent_p.E84E|CDK5RAP3_uc002ims.2_Silent_p.E153E|CDK5RAP3_uc002imv.2_Silent_p.E84E|CDK5RAP3_uc002imw.2_Silent_p.E84E|CDK5RAP3_uc002imx.2_Silent_p.E15E NM_176096 NP_788276 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 240 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding 0 CGGTGTACGAGTGGAGGACAG 0.587 NaN 0 0 0 1 0 46 84 TRIM25 7706 broad.mit.edu 37 17 54969173 54969173 + Missense_Mutation SNP G G T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr17:54969173G>T uc002iut.2 - 9 1841 c.1781C>A c.(1780-1782)GCC>GAC p.A594D TRIM25_uc010dcj.2_Missense_Mutation_p.A386D NM_005082 NP_005073 Q14258 TRI25_HUMAN tripartite motif-containing 25 594 B30.2/SPRY. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding lung(1)|breast(1)|skin(1) 3 Breast(9;6.15e-08) GACCTTGTCGGCAACAGCGAA 0.542 NaN 1 0 4.4004e-07 1 4.45217e-07 25 28 LPO 4025 broad.mit.edu 37 17 56321382 56321382 + Missense_Mutation SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr17:56321382C>G uc002ivt.2 + 3 420 c.104C>G c.(103-105)TCC>TGC p.S35C LPO_uc010dco.2_Missense_Mutation_p.S35C|LPO_uc010wnr.1_Intron|LPO_uc010wns.1_Intron|LPO_uc010dcp.2_Intron NM_006151 NP_006142 P22079 PERL_HUMAN lactoperoxidase isoform 1 preproprotein 35 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|breast(1) 2 TCTGCCATCTCCGATACTGTG 0.468 NaN 0 0 0 1 0 11 32 LPO 4025 broad.mit.edu 37 17 56342246 56342246 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr17:56342246G>A uc002ivt.2 + 10 1746 c.1430G>A c.(1429-1431)CGC>CAC p.R477H LPO_uc010wns.1_Missense_Mutation_p.R418H|LPO_uc010dcp.2_Missense_Mutation_p.R394H|LPO_uc010dcq.2_Missense_Mutation_p.R148H|LPO_uc010dcr.2_Missense_Mutation_p.R40H NM_006151 NP_006142 P22079 PERL_HUMAN lactoperoxidase isoform 1 preproprotein 477 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|breast(1) 2 AGTATGTTCCGCCTGGATGAG 0.512 NaN 0 0 0 1 0 32 43 GPR142 350383 broad.mit.edu 37 17 72368159 72368159 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr17:72368159C>T uc010wqy.1 + 4 809 c.809C>T c.(808-810)TCG>TTG p.S270L GPR142_uc010wqx.1_Missense_Mutation_p.S182L NM_181790 NP_861455 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 270 Cytoplasmic (Potential). cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 CGGGCCGCCTCGTCCCCAGGC 0.657 NaN 0 0 0 1 0 23 22 PRTN3 5657 broad.mit.edu 37 19 846267 846267 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:846267G>A uc002lqa.1 + 4 514 c.490G>A c.(490-492)GAC>AAC p.D164N NM_002777 NP_002768 P24158 PRTN3_HUMAN myeloblastin 164 Peptidase S1. collagen catabolic process|positive regulation of cell proliferation|proteolysis protein binding|serine-type endopeptidase activity ovary(1) 1 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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) GGGTGCCCACGACCCCCCAGC 0.677 NaN 0 0 0 1 0 8 8 PTPRS 5802 broad.mit.edu 37 19 5212395 5212395 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:5212395G>A uc002mbv.2 - 31 4956 c.4722C>T c.(4720-4722)GTC>GTT p.V1574V PTPRS_uc002mbu.1_Silent_p.V1143V|PTPRS_uc010xin.1_Silent_p.V1116V|PTPRS_uc002mbw.2_Silent_p.V1536V|PTPRS_uc002mbx.2_Silent_p.V1131V|PTPRS_uc002mby.2_Silent_p.V1127V NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 1574 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) TGCAGGTCTTGACTCTCCGCA 0.662 NaN 0 0 0 1 0 6 27 MUC16 94025 broad.mit.edu 37 19 9076790 9076790 + Silent SNP A A T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:9076790A>T uc002mkp.2 - 3 10860 c.10656T>A c.(10654-10656)ACT>ACA p.T3552T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3553 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGGGTGTGGTAGTTGAGATTG 0.547 NaN 0 0 0 1 0 90 131 CACNA1A 773 broad.mit.edu 37 19 13409644 13409644 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:13409644G>A uc010dze.2 - 19 3042 c.2806C>T c.(2806-2808)CGG>TGG p.R936W CACNA1A_uc010dzc.2_Missense_Mutation_p.R461W|CACNA1A_uc002mwy.3_Missense_Mutation_p.R935W|CACNA1A_uc010xne.1_Missense_Mutation_p.R464W NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 936 Cytoplasmic (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CCCCCCTGCCGGTGCACGTGC 0.731 NaN 0 0 0 1 0 16 20 ZNF257 113835 broad.mit.edu 37 19 22272043 22272043 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:22272043C>T uc010ecx.2 + 4 1660 c.1491C>T c.(1489-1491)AAC>AAT p.N497N ZNF257_uc010ecy.2_Silent_p.N465N NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 497 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) AAGCCTTTAACCGGTCTTCAC 0.393 NaN 0 0 0 1 0 32 35 ZNF792 126375 broad.mit.edu 37 19 35451871 35451871 + Missense_Mutation SNP T T C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:35451871T>C uc002nxh.1 - 2 448 c.61A>G c.(61-63)ATT>GTT p.I21V NM_175872 NP_787068 Q3KQV3 ZN792_HUMAN zinc finger protein 792 21 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GAGAAGTAAATGGTCACGTCC 0.547 NaN 0 0 0 1 0 76 102 HPN 3249 broad.mit.edu 37 19 35551678 35551678 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:35551678C>T uc002nxq.1 + 10 1013 c.768C>T c.(766-768)AAC>AAT p.N256N HPN_uc002nxr.1_Silent_p.N256N|HPN_uc002nxs.1_Silent_p.N98N|HPN_uc010xsh.1_Silent_p.N225N|HPN_uc002nxt.1_Silent_p.N140N|LOC100128675_uc010xsi.1_Intron NM_002151 NP_002142 P05981 HEPS_HUMAN hepsin 256 Extracellular (Potential).|Peptidase S1. cell growth|proteolysis cytoplasm|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) AGAACAGCAACGATATTGCCC 0.637 NaN 0 0 0 1 0 19 105 TIMM50 92609 broad.mit.edu 37 19 39971574 39971574 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:39971574G>A uc002olu.1 + 1 523 c.390G>A c.(388-390)GCG>GCA p.A130A TIMM50_uc002olt.1_RNA NM_001001563 NP_001001563 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 27 mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding ovary(1) 1 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CGAGGTTGGCGACGCCGCCCC 0.706 NaN 0 0 0 1 0 9 23 MARK4 57787 broad.mit.edu 37 19 45783636 45783636 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:45783636G>A uc002pbb.1 + 11 1016 c.1011G>A c.(1009-1011)GTG>GTA p.V337V MARK4_uc002paz.1_Missense_Mutation_p.D75N|MARK4_uc002pba.1_Silent_p.V337V|MARK4_uc002pbc.1_Silent_p.V203V Q96L34 MARK4_HUMAN RecName: Full=MAP/microtubule affinity-regulating kinase 4; EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1; 337 UBA. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding central_nervous_system(2)|large_intestine(1) 3 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) TCCCAGAGGTGATGGTGGGTA 0.428 NaN 0 0 0 1 0 115 148 ZNF649 65251 broad.mit.edu 37 19 52394437 52394437 + Missense_Mutation SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:52394437G>C uc002pxy.2 - 5 1220 c.952C>G c.(952-954)CAT>GAT p.H318D ZNF577_uc010ydf.1_5'Flank NM_023074 NP_075562 Q9BS31 ZN649_HUMAN zinc finger protein 649 318 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) CTGCATGTATGAGGCTTCTCT 0.453 NaN 0 0 0 1 0 27 37 BRSK1 84446 broad.mit.edu 37 19 55815073 55815073 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:55815073C>T uc002qkg.2 + 12 1442 c.1165C>T c.(1165-1167)CGT>TGT p.R389C BRSK1_uc002qkf.2_Missense_Mutation_p.R405C|BRSK1_uc002qkh.2_Missense_Mutation_p.R84C NM_032430 NP_115806 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 389 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1) 6 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) CATGCTGAGCCGTCACGGGAA 0.582 NaN 0 0 0 1 0 61 82 LPIN1 23175 broad.mit.edu 37 2 11911614 11911614 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr2:11911614G>A uc010yjn.1 + 5 679 c.405G>A c.(403-405)ACG>ACA p.T135T LPIN1_uc010yjm.1_Silent_p.T184T|LPIN1_uc002rbt.2_Silent_p.T135T|LPIN1_uc002rbs.2_Silent_p.T135T NM_145693 NP_663731 Q14693 LPIN1_HUMAN lipin 1 135 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) ACCCCAGCACGCCAGCCCAAG 0.567 NaN 0 0 0 1 0 12 61 GFPT1 2673 broad.mit.edu 37 2 69575328 69575328 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr2:69575328C>T uc002sfh.2 - 10 1109 c.930G>A c.(928-930)CAG>CAA p.Q310Q NM_002056 NP_002047 Q06210 GFPT1_HUMAN glucosamine-fructose-6-phosphate 328 dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding skin(1) 1 GGAGTTCCATCTGGAGTGTTT 0.428 NaN 0 0 0 1 0 75 73 ANKRD36 375248 broad.mit.edu 37 2 97779652 97779652 + Missense_Mutation SNP A A G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr2:97779652A>G uc010yva.1 + 1 420 c.176A>G c.(175-177)AAT>AGT p.N59S ANKRD36_uc002sxn.2_Missense_Mutation_p.N59S|ANKRD36_uc010yuz.1_RNA|ANKRD36_uc010fic.2_5'UTR|ANKRD36_uc002sxo.2_Missense_Mutation_p.N59S|ANKRD36_uc002sxp.3_RNA NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 59 ANK 1. 0 TATGACGCCAATAAGAGAGAC 0.527 NaN 0 0 0 1 0 30 27 MYO7B 4648 broad.mit.edu 37 2 128380819 128380819 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr2:128380819G>A uc002top.2 + 28 3663 c.3610G>A c.(3610-3612)GCC>ACC p.A1204T MYO7B_uc002toq.1_Missense_Mutation_p.A57T|MYO7B_uc002tor.1_Missense_Mutation_p.A57T NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 1204 FERM 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) AGTCATCTTGGCCACTGGAGA 0.577 NaN 0 0 0 1 0 12 43 XIRP2 129446 broad.mit.edu 37 2 168104956 168104956 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr2:168104956G>A uc002udx.2 + 8 7072 c.7054G>A c.(7054-7056)GAT>AAT p.D2352N XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D2177N|XIRP2_uc010fpq.2_Missense_Mutation_p.D2130N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2177 Pro-rich. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 ACCTCCAGTAGATGAGAAATC 0.473 NaN 0 0 0 1 0 47 131 TTN 7273 broad.mit.edu 37 2 179579099 179579099 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr2:179579099G>A uc010zfg.1 - 88 22894 c.22670C>T c.(22669-22671)CCA>CTA p.P7557L TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P4218L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8484 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) AGCATTGGCTGGTTCCACTCT 0.403 NaN 0 0 0 1 0 65 32 FAM171B 165215 broad.mit.edu 37 2 187626350 187626350 + Missense_Mutation SNP A A T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr2:187626350A>T uc002ups.2 + 8 1393 c.1281A>T c.(1279-1281)TTA>TTT p.L427F FAM171B_uc002upr.1_Intron|FAM171B_uc002upt.2_5'Flank NM_177454 NP_803237 Q6P995 F171B_HUMAN KIAA1946 427 Cytoplasmic (Potential). integral to membrane DNA binding ovary(6)|breast(3)|central_nervous_system(1) 10 AGTCGCAGTTATTCAATGCCA 0.383 NaN 0 0 0 1 0 52 46 SF3B1 23451 broad.mit.edu 37 2 198281605 198281605 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr2:198281605C>T uc002uue.2 - 6 574 c.526G>A c.(526-528)GCT>ACT p.A176T SF3B1_uc010fsk.1_RNA NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 176 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) CCAGCTTTAGCTTTTTCTGCT 0.423 NaN 0 0 0 1 0 54 125 SERINC3 10955 broad.mit.edu 37 20 43142655 43142655 + Silent SNP T T C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr20:43142655T>C uc002xme.2 - 2 200 c.66A>G c.(64-66)TCA>TCG p.S22S SERINC3_uc002xmf.1_Silent_p.S22S|SERINC3_uc010ggs.1_Silent_p.S15S|SERINC3_uc010zwp.1_5'UTR NM_198941 NP_945179 Q13530 SERC3_HUMAN tumor differentially expressed protein 1 22 Extracellular (Potential). integral to membrane|plasma membrane protein binding skin(3) 3 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) ACAGCAAACATGAGGCACCGC 0.488 NaN 0 0 0 1 0 84 49 LAMA5 3911 broad.mit.edu 37 20 60913289 60913289 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr20:60913289C>T uc002ycq.2 - 13 1822 c.1755G>A c.(1753-1755)CAG>CAA p.Q585Q NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 585 Laminin EGF-like 5. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCACTCACACTGGCAGAGAG 0.672 NaN 0 0 0 1 0 18 23 RIPK4 54101 broad.mit.edu 37 21 43176836 43176836 + Missense_Mutation SNP A A C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr21:43176836A>C uc002yzn.1 - 2 371 c.323T>G c.(322-324)CTG>CGG p.L108R NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 108 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 CTCCGAAGCCAGCAGCTTTTC 0.602 NaN 0 0 0 1 0 49 50 PCBP3 54039 broad.mit.edu 37 21 47349884 47349884 + Silent SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr21:47349884C>G uc002zhq.1 + 10 896 c.771C>G c.(769-771)CTC>CTG p.L257L PCBP3_uc010gqb.2_Silent_p.L257L|PCBP3_uc002zhp.1_Silent_p.L257L|PCBP3_uc002zhs.1_Silent_p.L231L|PCBP3_uc002zhr.1_Silent_p.L256L|PCBP3_uc002zht.1_Silent_p.L247L NM_020528 NP_065389 P57721 PCBP3_HUMAN poly(rC) binding protein 3 isoform 1 257 mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding skin(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) TTCCTCCCCTCGGACAGACCA 0.552 NaN 0 0 0 1 0 60 105 SNAP29 9342 broad.mit.edu 37 22 21213484 21213484 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr22:21213484G>A uc011ahw.1 + 1 193 c.86G>A c.(85-87)CGA>CAA p.R29Q PI4KA_uc002zsz.3_5'Flank|PI4KA_uc010gsq.1_5'Flank NM_004782 NP_004773 O95721 SNP29_HUMAN synaptosomal-associated protein 29 29 cellular membrane fusion|exocytosis|protein transport|vesicle targeting cell junction|cytoplasm|nucleus|synapse|synaptosome SNAP receptor activity 0 all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117) AGGGACGCCCGAGACCTCCCC 0.716 NaN 0 0 0 1 0 10 28 CHEK2 11200 broad.mit.edu 37 22 29091840 29091841 + Missense_Mutation DNP TG TG CA rs142470496 byFrequency TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr22:29091840_29091841TG>CA uc003adu.1 - 11 1188_1189 c.1116_1117CA>TG c.(1114-1119)TCCAAG>TCTGAG p.K373E CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adw.1_Missense_Mutation_p.K373E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E|CHEK2_uc003ady.1_Missense_Mutation_p.K373E|CHEK2_uc003adz.1_Missense_Mutation_p.K177E NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 373 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(2)|p.S372S(1) central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 CCCAAAATCTTGGAGTGCCCAA 0.416 NaN F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer 0 0 0 1 0 5 76 ANKRD28 23243 broad.mit.edu 37 3 15752761 15752761 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr3:15752761C>T uc003caj.1 - 12 1347 c.1204G>A c.(1204-1206)GAT>AAT p.D402N ANKRD28_uc003cai.1_Missense_Mutation_p.D248N|ANKRD28_uc011avz.1_Missense_Mutation_p.D248N|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.D432N|ANKRD28_uc003cam.2_Missense_Mutation_p.D435N NM_015199 NP_056014 O15084 ANR28_HUMAN ankyrin repeat domain 28 402 nucleoplasm protein binding breast(1) 1 CCAAAATCATCTGGGGTATCT 0.328 NaN 0 0 0 1 0 51 6 MST1R 4486 broad.mit.edu 37 3 49927946 49927946 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr3:49927946G>A uc003cxy.3 - 18 4046 c.3782C>T c.(3781-3783)ACC>ATC p.T1261I MST1R_uc011bdc.1_Missense_Mutation_p.T140I NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 1261 Cytoplasmic (Potential).|Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) AAATCTATAGGTCTGCAGGCT 0.572 NaN 0 0 0 1 0 36 2 MST1R 4486 broad.mit.edu 37 3 49928679 49928679 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr3:49928679G>A uc003cxy.3 - 17 3859 c.3595C>T c.(3595-3597)CTG>TTG p.L1199L MST1R_uc011bdc.1_Silent_p.L78L NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 1199 Cytoplasmic (Potential).|Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TGCTCTGCCAGGTACTCCATG 0.612 NaN 0 0 0 1 0 63 2 MST1R 4486 broad.mit.edu 37 3 49928719 49928719 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr3:49928719G>A uc003cxy.3 - 17 3819 c.3555C>T c.(3553-3555)CTC>CTT p.L1185L MST1R_uc011bdc.1_Silent_p.L64L NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 1185 Cytoplasmic (Potential).|Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CAAAGCTGATGAGGTCCTTCA 0.632 NaN 0 0 0 1 0 64 4 MST1R 4486 broad.mit.edu 37 3 49929255 49929255 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr3:49929255G>A uc003cxy.3 - 15 3552 c.3288C>T c.(3286-3288)GTC>GTT p.V1096V MST1R_uc011bdc.1_5'UTR NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 1096 Cytoplasmic (Potential).|ATP.|Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CTCCGTGGTAGACAACTCCAA 0.532 NaN 0 0 0 1 0 129 11 MBD4 8930 broad.mit.edu 37 3 129150350 129150350 + Silent SNP T T C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr3:129150350T>C uc003emh.1 - 8 1913 c.1737A>G c.(1735-1737)CTA>CTG p.L579L uc003emg.2_5'Flank|MBD4_uc003emi.1_3'UTR|MBD4_uc003emj.1_Silent_p.L573L|MBD4_uc003emk.1_Silent_p.L261L NM_003925 NP_003916 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 579 depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding ovary(1)|lung(1) 2 GAGTTTAAGATAGACTTAATT 0.368 NaN BER_DNA_glycosylases 0 0 0 1 0 125 9 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C C G rs121913483 TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 C G C C Valid Somatic Phase_I WXS RNASeq Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr4:1803568C>G uc003gdr.3 + 7 1002 c.746C>G c.(745-747)TCC>TGC p.S249C FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 249 Extracellular (Potential). S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1) urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACAGAGCGCTCCCCGCACCGG 0.562 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 0 0 0 1 0 20 11 TBC1D1 23216 broad.mit.edu 37 4 38051478 38051478 + Missense_Mutation SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr4:38051478G>C uc003gtb.2 + 11 2212 c.1869G>C c.(1867-1869)ATG>ATC p.M623I TBC1D1_uc011byd.1_Missense_Mutation_p.M623I|TBC1D1_uc010ifd.2_Missense_Mutation_p.M370I|TBC1D1_uc011byf.1_Missense_Mutation_p.M494I NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 623 nucleus Rab GTPase activator activity ovary(1) 1 GGAAACTTATGAGGTATCACT 0.507 NaN 0 0 0 1 0 124 56 FRAS1 80144 broad.mit.edu 37 4 79205678 79205678 + Missense_Mutation SNP T T C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr4:79205678T>C uc003hlb.2 + 13 1815 c.1375T>C c.(1375-1377)TAC>CAC p.Y459H FRAS1_uc003hkw.2_Missense_Mutation_p.Y459H|FRAS1_uc003hky.1_Missense_Mutation_p.Y163H|FRAS1_uc003hkz.2_Missense_Mutation_p.Y163H|FRAS1_uc003hla.1_5'Flank NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 459 FU 1.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 ACTGGGTTTTTACCAAGCTGG 0.488 NaN 0 0 0 1 0 53 82 PDHA2 5161 broad.mit.edu 37 4 96761293 96761293 + Translation_Start_Site SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr4:96761293G>A uc003htr.3 + 1 55 c.-8G>A c.(-10--6)CCGTG>CCATG NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) ACAGCACTCCGTGAAGAATAT 0.617 NaN 0 0 0 1 0 4 16 MTTP 4547 broad.mit.edu 37 4 100532349 100532349 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr4:100532349C>T uc003hvc.3 + 14 2075 c.1819C>T c.(1819-1821)CGT>TGT p.R607C MTTP_uc011cej.1_Missense_Mutation_p.R634C NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 607 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) CAATTATGACCGTTTCTCCAG 0.423 NaN 0 0 0 1 0 26 46 FGG 2266 broad.mit.edu 37 4 155527888 155527888 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr4:155527888G>A uc003ioj.2 - 8 1239 c.1098C>T c.(1096-1098)CAC>CAT p.H366H FGG_uc003iog.2_Silent_p.H366H|FGG_uc003ioh.2_Silent_p.H374H|FGG_uc010ipx.2_Silent_p.H194H|FGG_uc010ipy.2_Silent_p.H77H|FGG_uc003ioi.2_Silent_p.H77H|FGG_uc003iok.2_Silent_p.H374H NM_021870 NP_068656 P02679 FIBG_HUMAN fibrinogen, gamma chain isoform gamma-B 366 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding 0 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GATGGCCAGCGTGACACTTGT 0.363 NaN 0 0 0 1 0 29 36 ACSL1 2180 broad.mit.edu 37 4 185684329 185684329 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr4:185684329C>T uc003iww.2 - 16 1807 c.1513G>A c.(1513-1515)GAG>AAG p.E505K ACSL1_uc011ckm.1_Missense_Mutation_p.E334K|ACSL1_uc003iwt.1_Missense_Mutation_p.E505K|ACSL1_uc003iwu.1_Missense_Mutation_p.E505K|ACSL1_uc011ckn.1_Missense_Mutation_p.E471K|ACSL1_uc003iws.1_Missense_Mutation_p.E75K NM_001995 NP_001986 P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 505 Cytoplasmic (Potential). digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity ovary(2) 2 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) ACCTCGCCCTCGCCCTCGGCA 0.478 NaN 0 0 0 1 0 8 21 DNAH5 1767 broad.mit.edu 37 5 13753602 13753602 + Missense_Mutation SNP A A C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr5:13753602A>C uc003jfd.2 - 63 10654 c.10612T>G c.(10612-10614)TTT>GTT p.F3538V DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3538 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AGATCACGAAACTCTTGGTTA 0.383 NaN Kartagener_syndrome 0 0 0 1 0 33 95 NLN 57486 broad.mit.edu 37 5 65118647 65118647 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr5:65118647G>A uc003juf.2 + 13 2135 c.2019G>A c.(2017-2019)GGG>GGA p.G673G NLN_uc003jug.2_Silent_p.G502G|NLN_uc010iww.2_Silent_p.G350G NM_020726 NP_065777 Q9BYT8 NEUL_HUMAN neurolysin precursor 673 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity central_nervous_system(1) 1 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) TGAAACCTGGGGGATCTCTGG 0.408 NaN 0 0 0 1 0 28 67 SLC30A5 64924 broad.mit.edu 37 5 68404192 68404192 + Missense_Mutation SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr5:68404192G>C uc003jvh.2 + 5 577 c.376G>C c.(376-378)GAG>CAG p.E126Q SLC30A5_uc003jvi.2_5'UTR NM_022902 NP_075053 Q8TAD4 ZNT5_HUMAN solute carrier family 30 (zinc transporter), 126 Helical; (Potential). cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane zinc ion binding|zinc ion transmembrane transporter activity central_nervous_system(1) 1 Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) GCTGCTATTTGAGCACAGTGA 0.333 NaN 0 0 0 1 0 15 14 FAM151B 167555 broad.mit.edu 37 5 79837636 79837636 + Missense_Mutation SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr5:79837636C>G uc003kgv.1 + 6 959 c.816C>G c.(814-816)ATC>ATG p.I272M FAM151B_uc010jal.1_RNA NM_205548 NP_991111 Q6UXP7 F151B_HUMAN hypothetical protein LOC167555 272 0 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36) CCATTGGAATCAAAGTTAATC 0.299 NaN 0 0 0 1 0 12 9 FAM151B 167555 broad.mit.edu 37 5 79837648 79837648 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr5:79837648C>T uc003kgv.1 + 6 971 c.828C>T c.(826-828)CTC>CTT p.L276L FAM151B_uc010jal.1_RNA NM_205548 NP_991111 Q6UXP7 F151B_HUMAN hypothetical protein LOC167555 276 0 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36) AAGTTAATCTCTAAGAAGAAG 0.299 NaN 0 0 0 1 0 10 9 GIN1 54826 broad.mit.edu 37 5 102442494 102442494 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr5:102442494C>T uc003koa.1 - 3 341 c.259G>A c.(259-261)GGT>AGT p.G87S GIN1_uc003kob.1_Intron|GIN1_uc003koc.1_Missense_Mutation_p.G87S NM_017676 NP_060146 Q9NXP7 GIN1_HUMAN zinc finger, H2C2 domain containing 87 DNA integration DNA binding ovary(1)|skin(1) 2 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) CTGGATATACCATGATGAGCT 0.363 NaN 0 0 0 1 0 16 8 VDAC1 7416 broad.mit.edu 37 5 133326826 133326826 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr5:133326826G>A uc003kyp.1 - 4 236 c.137C>T c.(136-138)TCA>TTA p.S46L VDAC1_uc003kyq.1_Missense_Mutation_p.S46L|VDAC1_uc003kyr.1_Missense_Mutation_p.S46L NM_003374 NP_003365 P21796 VDAC1_HUMAN voltage-dependent anion channel 1 46 Beta stranded. apoptosis|interspecies interaction between organisms mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex porin activity|protein binding|voltage-gated anion channel activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) Dihydroxyaluminium(DB01375) AGTGTTGGCTGAGCCTGAGCT 0.478 NaN 0 0 0 1 0 27 84 PCDHA5 56143 broad.mit.edu 37 5 140201632 140201632 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr5:140201632G>A uc003lhl.2 + 1 272 c.272G>A c.(271-273)CGG>CAG p.R91Q PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.R91Q|PCDHA5_uc003lhj.1_Missense_Mutation_p.R91Q NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 91 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGATCGACCGGGAGGAGCTG 0.622 NaN 0 0 0 1 0 13 243 SIRT5 23408 broad.mit.edu 37 6 13588578 13588578 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr6:13588578G>A uc003nay.2 + 4 427 c.131G>A c.(130-132)CGA>CAA p.R44Q SIRT5_uc003naw.2_Missense_Mutation_p.R44Q|SIRT5_uc003nax.2_Intron|SIRT5_uc011dit.1_Missense_Mutation_p.R44Q NM_012241 NP_036373 Q9NXA8 SIRT5_HUMAN sirtuin 5 isoform 1 44 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial intermembrane space|mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding skin(2)|upper_aerodigestive_tract(1) 3 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.176) Suramin(DB04786) GCAGATTTTCGAAAGTTTTTT 0.403 NaN 0 0 0 1 0 35 32 DEF6 50619 broad.mit.edu 37 6 35287672 35287672 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr6:35287672G>A uc003okk.2 + 9 1498 c.1459G>A c.(1459-1461)GCG>ACG p.A487T DEF6_uc010jvs.2_Missense_Mutation_p.A462T|DEF6_uc010jvt.2_Missense_Mutation_p.A232T NM_022047 NP_071330 Q9H4E7 DEFI6_HUMAN differentially expressed in FDCP 6 homolog 487 Glu-rich. cytoplasm|nucleus|plasma membrane 0 CATCGAACGGGCGCAGCAGGA 0.617 NaN 0 0 0 1 0 4 5 XPO5 57510 broad.mit.edu 37 6 43495459 43495459 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr6:43495459C>T uc003ovp.2 - 26 3044 c.2833G>A c.(2833-2835)GAG>AAG p.E945K POLR1C_uc003ovo.1_Intron NM_020750 NP_065801 Q9HAV4 XPO5_HUMAN exportin 5 945 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding skin(2)|breast(1)|kidney(1) 4 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) TCTGCAGCCTCATCTTCTCCA 0.507 NaN 0 0 0 1 0 35 44 LMBRD1 55788 broad.mit.edu 37 6 70447864 70447864 + Missense_Mutation SNP C C G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr6:70447864C>G uc003pfa.2 - 7 721 c.606G>C c.(604-606)TTG>TTC p.L202F LMBRD1_uc003pey.2_5'UTR|LMBRD1_uc003pez.2_Missense_Mutation_p.L129F|LMBRD1_uc010kal.2_Missense_Mutation_p.L129F|LMBRD1_uc003pfb.2_RNA NM_018368 NP_060838 Q9NUN5 LMBD1_HUMAN liver regeneration p-53 related protein 202 Helical; Name=5; (Potential). interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding ovary(1) 1 ACATTCCAATCAAGGTCAGAG 0.289 NaN 0 0 0 1 0 12 13 MDN1 23195 broad.mit.edu 37 6 90421882 90421882 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr6:90421882G>A uc003pnn.1 - 49 7640 c.7524C>T c.(7522-7524)TAC>TAT p.Y2508Y NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 2508 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CATCGATCCAGTAAGTATTCA 0.408 NaN 0 0 0 1 0 94 115 KPNA5 3841 broad.mit.edu 37 6 117045538 117045538 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr6:117045538G>A uc003pxh.2 + 10 1130 c.999G>A c.(997-999)CAG>CAA p.Q333Q NM_002269 NP_002260 O15131 IMA5_HUMAN karyopherin alpha 5 330 NLS binding site (minor) (By similarity).|ARM 7. NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding|protein transporter activity breast(3)|skin(1) 4 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212) TTCAAACACAGGTGAGTTCAA 0.279 NaN 0 0 0 1 0 14 30 DNAH11 8701 broad.mit.edu 37 7 21751477 21751477 + Missense_Mutation SNP C C A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr7:21751477C>A uc003svc.2 + 43 7034 c.7003C>A c.(7003-7005)CCG>ACG p.P2335T NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2335 AAA 2 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GGGCTGGAATCCGTGAGTATT 0.279 NaN Kartagener_syndrome 1 0 3.32936e-07 1 3.38846e-07 19 17 FZD9 8326 broad.mit.edu 37 7 72848451 72848451 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr7:72848451G>A uc003tyb.2 + 1 343 c.114G>A c.(112-114)CCG>CCA p.P38P NM_003508 NP_003499 O00144 FZD9_HUMAN frizzled 9 precursor 38 FZ.|Extracellular (Potential). B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding central_nervous_system(1) 1 Lung NSC(55;0.0659)|all_lung(88;0.152) GGGCTGCGCCGTGCCAGGCGG 0.761 NaN 0 0 0 1 0 20 17 ZNF277 11179 broad.mit.edu 37 7 111981066 111981066 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr7:111981066G>A uc003vge.2 + 11 1278 c.1149G>A c.(1147-1149)TCG>TCA p.S383S ZNF277_uc003vgf.2_Silent_p.S305S|ZNF277_uc003vgg.2_Silent_p.S208S NM_021994 NP_068834 Q9NRM2 ZN277_HUMAN zinc finger protein (C2H2 type) 277 383 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(2) 4 AACACACTTCGCTGCTCCCCG 0.423 NaN 0 0 0 1 0 44 50 ARHGEF5 7984 broad.mit.edu 37 7 144077079 144077079 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr7:144077079G>A uc003wel.2 + 15 4842 c.4724G>A c.(4723-4725)CGT>CAT p.R1575H ARHGEF5_uc003wem.2_Missense_Mutation_p.R376H NM_005435 NP_005426 Q12774 ARHG5_HUMAN rho guanine nucleotide exchange factor 5 1575 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) CCAGAGGTCCGTGCACAGAAC 0.572 NaN 0 0 0 1 0 88 106 CNTNAP2 26047 broad.mit.edu 37 7 147844772 147844772 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr7:147844772G>A uc003weu.1 + 17 3260 c.2744G>A c.(2743-2745)CGC>CAC p.R915H NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 915 Laminin G-like 3.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GGCCACACCCGCCTGGAGCTC 0.522 NaN HNSCC(39;0.1) 0 0 0 1 0 55 53 ADRA1A 148 broad.mit.edu 37 8 26627912 26627912 + Missense_Mutation SNP G G T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr8:26627912G>T uc003xfh.1 - 2 1591 c.1155C>A c.(1153-1155)TTC>TTA p.F385L ADRA1A_uc003xfc.1_Missense_Mutation_p.F385L|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.F385L|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.F385L NM_000680 NP_000671 P35348 ADA1A_HUMAN alpha-1A-adrenergic receptor isoform 1 385 Cytoplasmic (By similarity). activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) AGATCCTGTAGAAGGTCTCTC 0.557 NaN 1 0 3.33393e-45 1 3.49656e-45 106 118 NKX6-3 157848 broad.mit.edu 37 8 41504183 41504183 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr8:41504183G>A uc003xoa.2 - 2 197 c.193C>T c.(193-195)CGG>TGG p.R65W NKX6-3_uc010lxa.1_Missense_Mutation_p.R65W NM_152568 NP_689781 A6NJ46 NKX63_HUMAN NK6 homeobox 3 195 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(28;0.00541)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Esophageal squamous(32;0.0844)|Hepatocellular(245;0.154) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CTCTTCTTCCGCCACTTGGTC 0.572 NaN 0 0 0 1 0 5 9 CHD7 55636 broad.mit.edu 37 8 61712986 61712986 + Missense_Mutation SNP A A G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 A G A A Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr8:61712986A>G uc003xue.2 + 5 2755 c.2278A>G c.(2278-2280)ACT>GCT p.T760A NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 760 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.556_871dup(1) ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AAAGCGCTACACTGAAGACCT 0.453 NaN 0 0 0 1 0 21 21 UBR5 51366 broad.mit.edu 37 8 103305851 103305851 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr8:103305851G>A uc003ykr.1 - 34 4604 c.4571C>T c.(4570-4572)TCA>TTA p.S1524L UBR5_uc003yks.1_Missense_Mutation_p.S1524L NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 1524 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CTGATCAGATGATGGTCGTGG 0.443 NaN 0 0 0 1 0 36 64 COL22A1 169044 broad.mit.edu 37 8 139606405 139606405 + Silent SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr8:139606405C>T uc003yvd.2 - 63 4917 c.4470G>A c.(4468-4470)GCG>GCA p.A1490A COL22A1_uc011ljo.1_Silent_p.A770A NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1490 Pro-rich.|Gly-rich. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) ACTTCATGTACGCCGGGGGCA 0.602 NaN HNSCC(7;0.00092) 0 0 0 1 0 40 59 KANK1 23189 broad.mit.edu 37 9 734746 734746 + Splice_Site SNP A A G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:734746A>G uc003zgl.1 + 11 3895 c.3246_splice c.e11-2 p.R1082_splice KANK1_uc003zgn.1_Splice_Site_p.R1082_splice|KANK1_uc003zgs.1_Splice_Site_p.R924_splice|KANK1_uc010mgx.1_Splice_Site_p.R37_splice|KANK1_uc010mgy.1_5'UTR|KANK1_uc003zgt.1_5'Flank NM_015158 NP_055973 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 isoform a negative regulation of actin filament polymerization cytoplasm ovary(2)|central_nervous_system(1)|pancreas(1) 4 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TTCTCCTTTCAGGTATGAATT 0.284 NaN 0 0 0 1 0 38 29 SLC24A2 25769 broad.mit.edu 37 9 19573435 19573435 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:19573435C>T uc003zoa.1 - 6 1323 c.1261G>A c.(1261-1263)GAT>AAT p.D421N SLC24A2_uc003zob.1_Missense_Mutation_p.D404N NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN solute carrier family 24 421 Cytoplasmic (Potential). visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity ovary(3) 3 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) ATTTCAACATCTGTGCTGGTG 0.303 NaN 0 0 0 1 0 48 16 VCP 7415 broad.mit.edu 37 9 35061086 35061086 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:35061086G>A uc003zvy.2 - 11 1674 c.1285C>T c.(1285-1287)CTC>TTC p.L429F VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Missense_Mutation_p.L98F|VCP_uc010mki.1_Missense_Mutation_p.L384F NM_007126 NP_009057 P55072 TERA_HUMAN valosin-containing protein 429 activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding upper_aerodigestive_tract(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AGGTCAATGAGATCCATCTTC 0.537 NaN 0 0 0 1 0 139 131 RG9MTD3 158234 broad.mit.edu 37 9 37768130 37768130 + Missense_Mutation SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:37768130G>C uc004aai.2 + 5 555 c.478G>C c.(478-480)GAC>CAC p.D160H RG9MTD3_uc011lqo.1_Intron|RG9MTD3_uc011lqp.1_Missense_Mutation_p.D82H|RG9MTD3_uc011lqq.1_Missense_Mutation_p.D49H|RG9MTD3_uc004aaj.2_RNA|RG9MTD3_uc004aak.2_Missense_Mutation_p.D65H NM_144964 NP_659401 Q6PF06 RG9D3_HUMAN RNA (guanine-9-) methyltransferase domain 160 methyltransferase activity 0 GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226) CAAAAAAGCTGACAGGCCATT 0.413 NaN 0 0 0 1 0 77 100 XPA 7507 broad.mit.edu 37 9 100459547 100459547 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:100459547C>T uc004axr.3 - 1 145 c.28G>A c.(28-30)GAG>AAG p.E10K XPA_uc004axs.3_RNA NM_000380 NP_000371 P23025 XPA_HUMAN xeroderma pigmentosum, complementation group A 10 Interaction with CEP164 and required for UV resistance. nucleotide-excision repair, DNA damage removal nucleoplasm damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity breast(1) 1 Acute lymphoblastic leukemia(62;0.158) GCCGCCGCCTCCGGCAAAGCC 0.736 NaN Mis|N|F|S skin basal cell|skin squamous cell|melanoma NER Xeroderma_Pigmentosum 0 0 0 1 0 21 20 SPTAN1 6709 broad.mit.edu 37 9 131379944 131379944 + Missense_Mutation SNP G G C TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:131379944G>C uc004bvl.3 + 41 5481 c.5368G>C c.(5368-5370)GAG>CAG p.E1790Q SPTAN1_uc004bvm.3_Missense_Mutation_p.E1795Q|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1770Q NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1790 Spectrin 19. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 GGTGGGCTCAGAGGACTACGG 0.572 NaN 0 0 0 1 0 27 6 SPTAN1 6709 broad.mit.edu 37 9 131379988 131379988 + Missense_Mutation SNP G G T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:131379988G>T uc004bvl.3 + 41 5525 c.5412G>T c.(5410-5412)AAG>AAT p.K1804N SPTAN1_uc004bvm.3_Missense_Mutation_p.K1809N|SPTAN1_uc004bvn.3_Missense_Mutation_p.K1784N NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1804 Spectrin 19. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 ACCTGAGGAAGAAGCACAAGC 0.597 NaN 1 0 3.76604e-16 1 3.87879e-16 39 8 SPTAN1 6709 broad.mit.edu 37 9 131380380 131380380 + Missense_Mutation SNP G G T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:131380380G>T uc004bvl.3 + 42 5691 c.5578G>T c.(5578-5580)GCT>TCT p.A1860S SPTAN1_uc004bvm.3_Missense_Mutation_p.A1865S|SPTAN1_uc004bvn.3_Missense_Mutation_p.A1840S NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1860 Spectrin 19. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 GCAGCTGGCAGCTGCCCGGTG 0.612 NaN 1 0 6.04917e-29 1 6.26782e-29 43 4 SPTAN1 6709 broad.mit.edu 37 9 131381226 131381226 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:131381226G>A uc004bvl.3 + 43 5775 c.5662G>A c.(5662-5664)GAG>AAG p.E1888K SPTAN1_uc004bvm.3_Missense_Mutation_p.E1893K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1868K NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1888 Spectrin 20. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 CTGGATCAATGAGAAAATGAC 0.498 NaN 0 0 0 1 0 37 6 TOR1B 27348 broad.mit.edu 37 9 132565654 132565654 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:132565654G>A uc004byk.1 + 1 223 c.163G>A c.(163-165)GAG>AAG p.E55K NM_014506 NP_055321 O14657 TOR1B_HUMAN torsin family 1, member B (torsin B) precursor 55 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen ATP binding|nucleoside-triphosphatase activity|unfolded protein binding 0 Ovarian(14;0.0586) CCGCTTCGCCGAGTGCTGCCG 0.602 NaN 0 0 0 1 0 21 2 TOR1B 27348 broad.mit.edu 37 9 132565666 132565666 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:132565666G>A uc004byk.1 + 1 235 c.175G>A c.(175-177)GAG>AAG p.E59K NM_014506 NP_055321 O14657 TOR1B_HUMAN torsin family 1, member B (torsin B) precursor 59 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen ATP binding|nucleoside-triphosphatase activity|unfolded protein binding 0 Ovarian(14;0.0586) GTGCTGCCGCGAGGAGCGGCC 0.602 NaN 0 0 0 1 0 20 3 ZCCHC5 203430 broad.mit.edu 37 X 77912861 77912861 + Missense_Mutation SNP C C T TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chrX:77912861C>T uc004edc.1 - 2 1353 c.1057G>A c.(1057-1059)GAT>AAT p.D353N NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 353 nucleic acid binding|zinc ion binding ovary(1) 1 GTGCTTTCATCCCAGTTCAGC 0.473 NaN 0 0 0 1 0 20 3 PABPC5 140886 broad.mit.edu 37 X 90691635 90691635 + Silent SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chrX:90691635G>A uc004efg.2 + 2 1499 c.1059G>A c.(1057-1059)GAG>GAA p.E353E PABPC5_uc004eff.1_Silent_p.E189E NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 353 RRM 4. cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 CTTTTGAAGAGGCTACCAAAG 0.517 NaN 0 0 0 1 0 29 2 RGAG1 57529 broad.mit.edu 37 X 109697193 109697193 + Silent SNP A A G TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chrX:109697193A>G uc004eor.1 + 3 3594 c.3348A>G c.(3346-3348)GGA>GGG p.G1116G RGAG1_uc011msr.1_Silent_p.G1116G NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 1116 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 CAGCCTCTGGATCAAAGCCCA 0.527 NaN 0 0 0 1 0 110 8 HTR2C 3358 broad.mit.edu 37 X 114141244 114141244 + Missense_Mutation SNP G G A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chrX:114141244G>A uc004epu.1 + 6 1371 c.643G>A c.(643-645)GTT>ATT p.V215I HTR2C_uc010nqc.1_Missense_Mutation_p.V215I|HTR2C_uc004epv.1_Missense_Mutation_p.R183H NM_000868 NP_000859 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C 215 Helical; Name=5; (By similarity). cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity ovary(3) 3 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) CCCAAATTTCGTTCTTATTGG 0.468 NaN 0 0 0 1 0 191 15 LRRC8B 23507 broad.mit.edu 37 1 90058386 90058386 + Frame_Shift_Del DEL G G - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr1:90058386delG uc001dni.2 + 8 2703 c.2196delG c.(2194-2196)TTGfs p.L732fs LRRC8B_uc001dnh.2_Frame_Shift_Del_p.L732fs|LRRC8B_uc001dnj.2_Frame_Shift_Del_p.L732fs NM_001134476 NP_001127948 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member 732 LRR 12. integral to membrane ovary(2) 2 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) GTTTACTTTTGGGGAAAAATA 0.423 NaN NaN NaN NaN NaN NaN 47 69 --- --- GPR137C 283554 broad.mit.edu 37 14 53101795 53101798 + Frame_Shift_Del DEL AACA AACA - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr14:53101795_53101798delAACA uc001wzu.3 + 7 1252_1255 c.1252_1255delAACA c.(1252-1257)AACAATfs p.N418fs GPR137C_uc001wzt.3_Frame_Shift_Del_p.N434fs NM_001099652 NP_001093122 Q8N3F9 G137C_HUMAN G protein-coupled receptor 137C 418_419 Cytoplasmic (Potential). integral to membrane 0 Breast(41;0.0716) TTTAGATTTGAACAATCATCATAG 0.382 NaN NaN NaN NaN NaN NaN 15 52 --- --- CDC27 996 broad.mit.edu 37 17 45247389 45247389 + Frame_Shift_Del DEL T T - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr17:45247389delT uc002ild.3 - 4 398 c.271delA c.(271-273)ATCfs p.I91fs CDC27_uc002ile.3_Frame_Shift_Del_p.I91fs|CDC27_uc002ilf.3_Frame_Shift_Del_p.I91fs|CDC27_uc010wkp.1_Frame_Shift_Del_p.I30fs|CDC27_uc010wkq.1_RNA NM_001256 NP_001247 P30260 CDC27_HUMAN cell division cycle protein 27 isoform 2 91 TPR 1. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding lung(2)|breast(2)|ovary(1) 5 CCAGATAAGATTTGTTCCCCT 0.323 NaN NaN NaN NaN NaN NaN 9 154 --- --- GRLF1 2909 broad.mit.edu 37 19 47423804 47423804 + Frame_Shift_Del DEL C C - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr19:47423804delC uc010ekv.2 + 1 1872 c.1872delC c.(1870-1872)GACfs p.D624fs NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 624 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) CAAATGATGACAAGTATGTGA 0.448 NaN NaN NaN NaN NaN NaN 121 131 --- --- MYH9 4627 broad.mit.edu 37 22 36698721 36698722 + Frame_Shift_Del DEL CT CT - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr22:36698721_36698722delCT uc003apg.2 - 20 2622_2623 c.2391_2392delAG c.(2389-2394)AAAGCAfs p.K797fs MYH9_uc003aph.1_Frame_Shift_Del_p.K661fs NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 797_798 IQ. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 TTGGCAAATGCTCTGTGTGGTG 0.599 NaN T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated NaN NaN NaN NaN NaN 39 43 --- --- EP300 2033 broad.mit.edu 37 22 41523722 41523723 + Frame_Shift_Del DEL AC AC - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 AC - AC AC Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr22:41523722_41523723delAC uc003azl.3 + 4 1533_1534 c.1138_1139delAC c.(1138-1140)ACAfs p.T380fs NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 380 TAZ-type 1. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 AAACCACATGACACACTGCCAG 0.51 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome NaN NaN NaN NaN NaN 55 72 --- --- NOP14 8602 broad.mit.edu 37 4 2954005 2954006 + Frame_Shift_Ins INS - - A TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr4:2954005_2954006insA uc003ggj.1 - 6 938_939 c.866_867insT c.(865-867)CTGfs p.L289fs C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Frame_Shift_Ins_p.L35fs|NOP14_uc003ggk.3_Frame_Shift_Ins_p.L289fs|NOP14_uc003ggl.2_Frame_Shift_Ins_p.L289fs|NOP14_uc010icq.1_RNA NM_003703 NP_003694 P78316 NOP14_HUMAN probable nucleolar complex protein 14 289 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) mitochondrion|Noc4p-Nop14p complex|small-subunit processome snoRNA binding pancreas(1) 1 ACCCTACCTCCAGCTTCCTGAG 0.559 NaN NaN NaN NaN NaN NaN 23 85 --- --- MLL3 58508 broad.mit.edu 37 7 151843779 151843788 + Frame_Shift_Del DEL TTCTCACACA TTCTCACACA - rs142657994 byFrequency TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 TTCTCACACA - TTCTCACACA TTCTCACACA Valid Somatic Phase_I WXS Fluidigm_realigned Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr7:151843779_151843788delTTCTCACACA uc003wla.2 - 53 14146_14155 c.13927_13936delTGTGTGAGAA c.(13927-13938)TGTGTGAGAAAAfs p.C4643fs MLL3_uc003wkz.2_Frame_Shift_Del_p.C3761fs|MLL3_uc003wkx.2_Frame_Shift_Del_p.C801fs|MLL3_uc003wky.2_Frame_Shift_Del_p.C2207fs NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 4643_4646 FYR C-terminal. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TCAGACTTTTTTCTCACACATGCCACAGGC 0.419 NaN N medulloblastoma OREG0018460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NaN NaN NaN NaN NaN 25 52 --- --- CDKN2A 1029 broad.mit.edu 37 9 21971092 21971093 + Frame_Shift_Del DEL CC CC - rs137854599 TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 CC - CC CC Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:21971092_21971093delCC uc003zpk.2 - 2 477_478 c.265_266delGG c.(265-267)GGCfs p.G89fs MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Frame_Shift_Del_p.G144fs NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 89 ANK 3. G -> D (in CMM2; somatic mutation).|G -> S (in CMM2). cell cycle arrest|cell cycle checkpoint|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|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(13)|p.G89S(4)|p.H83fs*2(2)|p.D84_F90del(1)|p.V82_G89>G(1)|p.G89V(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.G89fs*57(1)|p.G89G(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GTCCAGGAAGCCCTCCCGGGCA 0.757 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) NaN NaN NaN NaN NaN 17 2 --- --- SPTAN1 6709 broad.mit.edu 37 9 131381207 131381207 + Frame_Shift_Del DEL G G - TCGA-GC-A3BM-01A-11D-A22Z-08 TCGA-GC-A3BM-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61da0825-106b-493c-8ccd-e8108b499a9c 0f0c391b-efb0-43d3-b6a5-c53b9fa0f477 g.chr9:131381207delG uc004bvl.3 + 43 5756 c.5643delG c.(5641-5643)GAGfs p.E1881fs SPTAN1_uc004bvm.3_Frame_Shift_Del_p.E1886fs|SPTAN1_uc004bvn.3_Frame_Shift_Del_p.E1861fs NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1881 Spectrin 20. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 ATGTGGAAGAGGAAGAAGCCT 0.498 NaN NaN NaN NaN NaN NaN 41 7 --- ---