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 PTCHD2 57540 broad.mit.edu 37 1 11561646 11561646 + Silent SNP G G C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr1:11561646G>C uc001ash.3 + 2 735 c.597G>C c.(595-597)CGG>CGC p.R199R PTCHD2_uc001asi.1_Silent_p.R199R NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 199 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CAGCCAATCGGAGCGGGCGAC 0.687 NaN 0 0 0 0.038147 0 7 6 EPHA10 284656 broad.mit.edu 37 1 38197144 38197144 + Silent SNP C C T rs77925917 by1000genomes TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr1:38197144C>T uc009vvi.2 - 7 1688 c.1602G>A c.(1600-1602)CCG>CCA p.P534P EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN EPH receptor A10 isofom 3 534 Fibronectin type-III 2.|Extracellular (Potential). extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity breast(4)|stomach(3)|lung(1) 8 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) AGGATGGCCCCGGGGAAGCGG 0.597 NaN 0 0 0 0.059317 0 30 63 MACF1 23499 broad.mit.edu 37 1 39818703 39818703 + Missense_Mutation SNP G G C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr1:39818703G>C uc010oiu.1 + 8 6675 c.6544G>C c.(6544-6546)GAG>CAG p.E2182Q MACF1_uc010ois.1_Missense_Mutation_p.E1680Q|MACF1_uc001cda.1_Missense_Mutation_p.E1588Q|MACF1_uc001cdc.1_Missense_Mutation_p.E767Q|MACF1_uc001cdb.1_Missense_Mutation_p.E767Q NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 3747 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGAACTGGCAGAGAACAAGAA 0.473 NaN 0 0 0 0.020292 0 12 23 MACF1 23499 broad.mit.edu 37 1 39818900 39818900 + Missense_Mutation SNP G G A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr1:39818900G>A uc010oiu.1 + 8 6872 c.6741G>A c.(6739-6741)ATG>ATA p.M2247I MACF1_uc010ois.1_Missense_Mutation_p.M1745I|MACF1_uc001cda.1_Missense_Mutation_p.M1653I|MACF1_uc001cdc.1_Missense_Mutation_p.M832I|MACF1_uc001cdb.1_Missense_Mutation_p.M832I NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 3812 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GTGAGATGATGAAGGTAAGGG 0.299 NaN 0 0 0 0.047766 0 9 11 RNF220 55182 broad.mit.edu 37 1 45101242 45101242 + Silent SNP G G A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr1:45101242G>A uc001clv.1 + 7 1335 c.975G>A c.(973-975)AGG>AGA p.R325R RNF220_uc001clw.1_Silent_p.R325R|RNF220_uc010okx.1_Silent_p.R86R|RNF220_uc010oky.1_Silent_p.R86R|RNF220_uc010okz.1_Silent_p.R41R|RNF220_uc001clx.1_Silent_p.R41R|RNF220_uc001cly.1_Silent_p.R4R|RNF220_uc001clz.1_Silent_p.R4R|RNF220_uc001cma.1_Silent_p.R4R|TMEM53_uc001cmb.1_3'UTR NM_018150 NP_060620 Q5VTB9 RN220_HUMAN ring finger protein 220 325 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 TGAAACGGAGGAAGCAAGATG 0.567 NaN 0 0 0 0.043863 0 17 26 YIPF1 54432 broad.mit.edu 37 1 54332522 54332522 + Missense_Mutation SNP C C G TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr1:54332522C>G uc001cvu.2 - 8 894 c.557G>C c.(556-558)AGA>ACA p.R186T YIPF1_uc001cvv.2_RNA|YIPF1_uc001cvw.2_RNA|YIPF1_uc001cvx.2_RNA|YIPF1_uc001cvy.2_RNA NM_018982 NP_061855 Q9Y548 YIPF1_HUMAN Yip1 domain family, member 1 186 Cytoplasmic (Potential). integral to membrane|transport vesicle large_intestine(1)|ovary(1) 2 TTTGCTGTTTCTCCACATGAG 0.458 NaN 0 0 0 0.076483 0 23 28 RAVER2 55225 broad.mit.edu 37 1 65247172 65247172 + Missense_Mutation SNP G G A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr1:65247172G>A uc001dbs.1 + 4 974 c.896G>A c.(895-897)GGC>GAC p.G299D RAVER2_uc001dbt.1_Missense_Mutation_p.G178D|RAVER2_uc010opb.1_Missense_Mutation_p.G178D NM_018211 NP_060681 Q9HCJ3 RAVR2_HUMAN ribonucleoprotein, PTB-binding 2 299 RRM 3. cytoplasm|nucleus nucleotide binding|RNA binding large_intestine(1) 1 ACCATCAAGGGCAGCAAAGTC 0.517 NaN 0 0 0 0.054565 0 35 49 VAV3 10451 broad.mit.edu 37 1 108145726 108145726 + Missense_Mutation SNP C C A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr1:108145726C>A uc001dvk.1 - 23 2129 c.2075G>T c.(2074-2076)AGT>ATT p.S692I VAV3_uc010ouu.1_Missense_Mutation_p.S96I|VAV3_uc001dvj.1_Missense_Mutation_p.S132I|VAV3_uc010ouv.1_Missense_Mutation_p.S96I|VAV3_uc010ouw.1_Missense_Mutation_p.S692I NM_006113 NP_006104 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor isoform 692 SH2. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(5)|lung(2)|breast(2) 9 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) AAGGTAAGTACTATTTACCCT 0.353 NaN 1 0 0.00024832 0.009096 0.000261196 4 96 CSF1 1435 broad.mit.edu 37 1 110466096 110466096 + Missense_Mutation SNP G G A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr1:110466096G>A uc001dyu.2 + 6 1266 c.853G>A c.(853-855)GGG>AGG p.G285R CSF1_uc001dyt.2_Missense_Mutation_p.G285R|CSF1_uc001dyv.3_Intron|CSF1_uc001dyw.3_Missense_Mutation_p.G285R NM_172212 NP_757351 P09603 CSF1_HUMAN colony stimulating factor 1 isoform a precursor 285 Lumenal (Potential). cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity ovary(1) 1 all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204) Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135) CCCCTCTGTCGGGGCCTTCAA 0.612 NaN OREG0013645 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.050027 0 32 28 IFI16 3428 broad.mit.edu 37 1 159021525 159021525 + Silent SNP G G A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr1:159021525G>A uc001ftg.2 + 9 1844 c.1554G>A c.(1552-1554)CAG>CAA p.Q518Q IFI16_uc010pis.1_Silent_p.Q518Q|IFI16_uc001fth.2_Silent_p.Q61Q|IFI16_uc010pit.1_Silent_p.Q117Q NM_005531 NP_005522 Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) ACAGTGCCCAGAGTGACCTCA 0.418 NaN 0 0 0 0.104719 0 44 56 PRDX6 9588 broad.mit.edu 37 1 173454533 173454533 + Nonsense_Mutation SNP G G T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr1:173454533G>T uc001giy.1 + 3 337 c.286G>T c.(286-288)GAA>TAA p.E96* NM_004905 NP_004896 P30041 PRDX6_HUMAN peroxiredoxin 6 96 Thioredoxin. cell redox homeostasis|phospholipid catabolic process cytoplasmic membrane-bounded vesicle|cytosol|lysosome peroxiredoxin activity|phospholipase A2 activity|protein binding central_nervous_system(1) 1 AGAGCCCACAGAAAAGTTACC 0.438 NaN 1 0 3.1745e-13 0.037714 3.60623e-13 30 35 KIF21B 23046 broad.mit.edu 37 1 200967639 200967639 + Silent SNP G G A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr1:200967639G>A uc001gvs.1 - 14 2267 c.1950C>T c.(1948-1950)ATC>ATT p.I650I KIF21B_uc001gvr.1_Silent_p.I650I|KIF21B_uc009wzl.1_Silent_p.I650I|KIF21B_uc010ppn.1_Silent_p.I650I NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 650 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 CCAGCTCGTCGATCAGCTTCT 0.562 NaN 0 0 0 0.045705 0 32 62 EPRS 2058 broad.mit.edu 37 1 220162081 220162081 + Nonsense_Mutation SNP G G A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr1:220162081G>A uc001hly.1 - 19 2896 c.2626C>T c.(2626-2628)CAG>TAG p.Q876* EPRS_uc010puf.1_Nonsense_Mutation_p.Q627*|EPRS_uc001hlz.1_Nonsense_Mutation_p.Q883* NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 876 WHEP-TRS 2.|3 X 57 AA approximate repeats. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) AATGGGGGCTGACCAGGTATG 0.403 NaN 0 0 0 0.048971 0 66 62 RAB3GAP2 25782 broad.mit.edu 37 1 220331158 220331158 + Missense_Mutation SNP G G C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr1:220331158G>C uc010puk.1 - 30 3486 c.3322C>G c.(3322-3324)CAG>GAG p.Q1108E RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.Q688E|RAB3GAP2_uc001hmh.2_Missense_Mutation_p.Q52E NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN rab3 GTPase-activating protein, non-catalytic 1108 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(131;0.0443) ATTAAGATCTGAAGAAGATCC 0.363 NaN 0 0 0 0.043863 0 16 17 FAM36A 116228 broad.mit.edu 37 1 245006464 245006464 + Missense_Mutation SNP A A G TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr1:245006464A>G uc001iar.2 + 4 721 c.343A>G c.(343-345)AGC>GGC p.S115G FAM36A_uc001ias.2_RNA|FAM36A_uc001iat.2_RNA|NCRNA00201_uc001iav.2_RNA NM_198076 NP_932342 Q5RI15 FA36A_HUMAN hypothetical protein LOC116228 115 integral to membrane 0 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) ACACAACGGCAGCAGCAGCAA 0.363 NaN 0 0 0 0.049695 0 19 31 ZNF25 219749 broad.mit.edu 37 10 38241395 38241395 + Missense_Mutation SNP C C T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr10:38241395C>T uc001ize.1 - 6 1136 c.1031G>A c.(1030-1032)TGT>TAT p.C344Y ZNF25_uc001izf.1_Missense_Mutation_p.C308Y NM_145011 NP_659448 P17030 ZNF25_HUMAN zinc finger protein 25 344 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) ACATTTATTACATTCAAAGGG 0.413 NaN 0 0 0 0.028581 0 17 29 LRRC20 55222 broad.mit.edu 37 10 72061222 72061222 + Missense_Mutation SNP C C T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr10:72061222C>T uc001jqx.1 - 5 665 c.443G>A c.(442-444)AGC>AAC p.S148N LRRC20_uc001jqy.1_Missense_Mutation_p.S92N|LRRC20_uc001jqz.1_Missense_Mutation_p.S98N NM_207119 NP_997002 Q8TCA0 LRC20_HUMAN leucine rich repeat containing 20 isoform 1 148 LRR 5. 0 GAGGTTGATGCTGCGCAAGGC 0.592 NaN 0 0 0 0.048971 0 45 74 CAMK2G 818 broad.mit.edu 37 10 75602237 75602237 + Missense_Mutation SNP G G C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr10:75602237G>C uc001jvv.1 - 11 982 c.858C>G c.(856-858)TTC>TTG p.F286L CAMK2G_uc001jvm.1_Missense_Mutation_p.F294L|CAMK2G_uc001jvo.1_Missense_Mutation_p.F294L|CAMK2G_uc001jvq.1_Missense_Mutation_p.F294L|CAMK2G_uc001jvr.1_Missense_Mutation_p.F294L|CAMK2G_uc001jvp.1_Missense_Mutation_p.F294L|CAMK2G_uc001jvs.1_Missense_Mutation_p.F294L|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Missense_Mutation_p.F272L|CAMK2G_uc010qkv.1_Missense_Mutation_p.F13L|CAMK2G_uc009xrp.1_5'Flank NM_172171 NP_751911 Q13555 KCC2G_HUMAN calcium/calmodulin-dependent protein kinase II 294 Calmodulin-binding.|Calmodulin-binding (By similarity). insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity lung(1)|stomach(1) 2 Prostate(51;0.0112) TCCGGGCATTGAACTTGCGCA 0.542 NaN 0 0 0 0.108266 0 23 31 KCNMA1 3778 broad.mit.edu 37 10 78799315 78799315 + Silent SNP G G A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr10:78799315G>A uc001jxn.2 - 15 2007 c.1830C>T c.(1828-1830)TTC>TTT p.F610F KCNMA1_uc001jxj.2_Silent_p.F610F|KCNMA1_uc001jxk.1_Silent_p.F225F|KCNMA1_uc009xrt.1_Silent_p.F430F|KCNMA1_uc001jxl.1_Silent_p.F264F|KCNMA1_uc001jxo.2_Silent_p.F610F|KCNMA1_uc001jxm.2_Silent_p.F610F|KCNMA1_uc001jxq.2_Silent_p.F610F NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 610 Cytoplasmic (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) ACAGACCCACGAAGGCACTGG 0.448 NaN 0 0 0 0.028581 0 17 26 BTAF1 9044 broad.mit.edu 37 10 93751913 93751913 + Silent SNP C C A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr10:93751913C>A uc001khr.2 + 21 2990 c.2892C>A c.(2890-2892)GTC>GTA p.V964V BTAF1_uc001kht.1_Silent_p.V402V NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 964 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) ACCATACTGTCACCAAGCACA 0.398 NaN 1 0 6.84511e-11 0.059317 7.53493e-11 32 36 EIF4G2 1982 broad.mit.edu 37 11 10821251 10821251 + Silent SNP C C G TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr11:10821251C>G uc001mjc.2 - 19 2589 c.2172G>C c.(2170-2172)CTG>CTC p.L724L EIF4G2_uc001mjb.2_Silent_p.L518L|EIF4G2_uc009ygf.2_Silent_p.L518L|EIF4G2_uc001mjd.2_Silent_p.L686L NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 724 W2. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) ATAAGAAACTCAGTCCCTTTC 0.378 NaN 0 0 0 0.11126 0 40 45 CYP2R1 120227 broad.mit.edu 37 11 14900872 14900872 + Missense_Mutation SNP T T C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr11:14900872T>C uc001mlr.2 - 4 1118 c.1118A>G c.(1117-1119)AAT>AGT p.N373S CYP2R1_uc001mlo.2_Missense_Mutation_p.N140S|CYP2R1_uc001mlp.2_Missense_Mutation_p.N256S|CYP2R1_uc001mlq.2_Intron NM_024514 NP_078790 Q6VVX0 CP2R1_HUMAN cytochrome P450, family 2, subfamily R, 373 hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity ovary(1)|central_nervous_system(1) 2 Cholecalciferol(DB00169)|Ergocalciferol(DB00153) TGGAACTATATTACAGAATCT 0.368 NaN 0 0 0 0.055883 0 20 27 SLC1A2 6506 broad.mit.edu 37 11 35308446 35308446 + Missense_Mutation SNP C C A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr11:35308446C>A uc001mwd.2 - 8 1736 c.1144G>T c.(1144-1146)GAT>TAT p.D382Y SLC1A2_uc001mwe.2_Missense_Mutation_p.D373Y|SLC1A2_uc010rev.1_Missense_Mutation_p.D382Y NM_004171 NP_004162 P43004 EAA2_HUMAN excitatory amino acid transporter 2 382 D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity ovary(2)|central_nervous_system(1) 3 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) ACACGCTTATCAATCCCCAGA 0.458 NaN 1 0 3.30712e-30 0.048971 3.97975e-30 65 88 COPS7A 50813 broad.mit.edu 37 12 6837406 6837406 + Missense_Mutation SNP C C G TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr12:6837406C>G uc001qqj.2 + 4 495 c.256C>G c.(256-258)CCT>GCT p.P86A COPS7A_uc009zex.2_RNA|COPS7A_uc001qqk.2_Missense_Mutation_p.P86A|COPS7A_uc001qql.2_RNA|COPS7A_uc001qqh.2_Missense_Mutation_p.P86A|COPS7A_uc001qqi.2_Missense_Mutation_p.P86A|COPS7A_uc001qqm.2_RNA|COPS7A_uc001qqn.3_Missense_Mutation_p.P86A|COPS7A_uc001qqo.2_Missense_Mutation_p.P86A NM_001164094 NP_001157566 Q9UBW8 CSN7A_HUMAN COP9 complex subunit 7a 86 PCI. cullin deneddylation cytoplasm|signalosome ovary(1) 1 CCGGAATCTTCCTCCACTAAC 0.512 NaN 0 0 0 0.043863 0 17 49 RIMKLB 57494 broad.mit.edu 37 12 8926379 8926379 + Nonstop_Mutation SNP G G C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr12:8926379G>C uc001quu.2 + 6 1411 c.1160G>C c.(1159-1161)TGA>TCA p.*387S RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_Nonstop_Mutation_p.*387S|RIMKLB_uc010sgl.1_Nonstop_Mutation_p.*387S|RIMKLB_uc001quw.2_Intron NM_020734 NP_065785 Q9ULI2 RIMKB_HUMAN ribosomal modification protein rimK-like family 387 protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding 0 CTGGTGGACTGACTCCACTGG 0.458 NaN 0 0 0 0.048971 0 53 58 MGP 4256 broad.mit.edu 37 12 15035937 15035937 + Nonsense_Mutation SNP G G A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr12:15035937G>A uc001rcn.1 - 3 242 c.139C>T c.(139-141)CAG>TAG p.Q47* NM_000900 NP_000891 P08493 MGP_HUMAN matrix Gla protein precursor 47 cartilage condensation|cell differentiation|ossification|regulation of bone mineralization proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent|structural constituent of bone ovary(1) 1 CATCTCTGCTGAGGGGATATG 0.393 NaN 0 0 0 0.050027 0 24 31 ITGA7 3679 broad.mit.edu 37 12 56088080 56088080 + Nonsense_Mutation SNP G G A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr12:56088080G>A uc001shh.2 - 18 2624 c.2404C>T c.(2404-2406)CGA>TGA p.R802* ITGA7_uc001shg.2_Nonsense_Mutation_p.R798*|ITGA7_uc010sps.1_Nonsense_Mutation_p.R705*|ITGA7_uc009znw.2_Nonsense_Mutation_p.R45*|ITGA7_uc009znx.2_Nonsense_Mutation_p.R679* NM_001144996 NP_001138468 Q13683 ITA7_HUMAN integrin alpha 7 isoform 1 precursor 842 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 ACACGGGCTCGTGCAGAGACT 0.602 NaN 0 0 0 0.048971 0 118 77 TMTC2 160335 broad.mit.edu 37 12 83289890 83289890 + Missense_Mutation SNP C C G TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr12:83289890C>G uc001szt.2 + 3 1380 c.948C>G c.(946-948)TTC>TTG p.F316L TMTC2_uc001szr.1_Missense_Mutation_p.F316L|TMTC2_uc001szs.1_Missense_Mutation_p.F316L|TMTC2_uc010suk.1_Missense_Mutation_p.F71L NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 316 Helical; (Potential). endoplasmic reticulum|integral to membrane binding ovary(2) 2 CTGTGGCCTTCTATACTGGAC 0.458 NaN 0 0 0 0.080422 0 36 107 RPH3A 22895 broad.mit.edu 37 12 113304588 113304588 + Missense_Mutation SNP G G C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr12:113304588G>C uc010syl.1 + 7 749 c.387G>C c.(385-387)GAG>GAC p.E129D RPH3A_uc001ttz.2_Missense_Mutation_p.E129D|RPH3A_uc001tty.2_Missense_Mutation_p.E125D|RPH3A_uc009zwe.1_Missense_Mutation_p.E125D|RPH3A_uc010sym.1_Missense_Mutation_p.E80D|RPH3A_uc001tua.2_5'Flank NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog isoform 1 129 RabBD.|FYVE-type. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding ovary(3)|central_nervous_system(2)|skin(2) 7 BRCA - Breast invasive adenocarcinoma(302;0.00453) GCGGAGTGGAGACCAACAACC 0.562 NaN 0 0 0 0.004672 0 3 16 RSRC2 65117 broad.mit.edu 37 12 122999747 122999747 + Silent SNP C C T rs142949567 TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr12:122999747C>T uc001ucr.2 - 6 776 c.630G>A c.(628-630)CCG>CCA p.P210P RSRC2_uc001uco.2_5'UTR|RSRC2_uc001ucp.2_Silent_p.P151P|RSRC2_uc001ucq.2_5'UTR|RSRC2_uc001ucs.2_5'UTR|RSRC2_uc001uct.2_Silent_p.P162P|RSRC2_uc001ucu.2_Silent_p.P210P NM_023012 NP_075388 Q7L4I2 RSRC2_HUMAN arginine/serine-rich coiled-coil 2 isoform a 210 ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201) TAAATCTTCTCGGCTTTTCAA 0.383 NaN 0 0 0 0.009096 0 4 105 C13orf28 122258 broad.mit.edu 37 13 113053427 113053427 + Missense_Mutation SNP C C A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr13:113053427C>A uc001vsd.1 + 4 320 c.289C>A c.(289-291)CAT>AAT p.H97N NM_145248 NP_660291 Q96KW9 SPAC7_HUMAN hypothetical protein LOC122258 precursor 97 extracellular region 0 all_lung(23;0.000633)|Lung NSC(43;0.0161)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0997)|Medulloblastoma(90;0.163) TGAGAATTACCATGAATTATT 0.373 NaN 1 0 3.41278e-10 0.0333 3.69935e-10 17 32 CHD8 57680 broad.mit.edu 37 14 21868445 21868445 + Missense_Mutation SNP C C T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr14:21868445C>T uc001was.1 - 24 3849 c.3755G>A c.(3754-3756)CGT>CAT p.R1252H CHD8_uc001war.1_Missense_Mutation_p.R1148H|SNORD8_uc001wau.1_5'Flank|CHD8_uc001wav.1_Missense_Mutation_p.R702H NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1531 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) TTTGCGTCCACGAGGCACAGG 0.403 NaN 0 0 0 0.020292 0 13 24 VPS13C 54832 broad.mit.edu 37 15 62201309 62201309 + Missense_Mutation SNP C C G TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr15:62201309C>G uc002agz.2 - 65 8934 c.8860G>C c.(8860-8862)GTG>CTG p.V2954L VPS13C_uc002aha.2_Missense_Mutation_p.V2911L|VPS13C_uc002ahb.1_Missense_Mutation_p.V2954L|VPS13C_uc002ahc.1_Missense_Mutation_p.V2911L|VPS13C_uc002ahd.1_Missense_Mutation_p.V331L NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 2954 protein localization ovary(2) 2 TTTACATCCACCAAGATACCC 0.353 NaN 0 0 0 0.062417 0 19 41 NEO1 4756 broad.mit.edu 37 15 73528817 73528817 + Missense_Mutation SNP C C G TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr15:73528817C>G uc002avm.3 + 8 1563 c.1421C>G c.(1420-1422)TCT>TGT p.S474C NEO1_uc010ukx.1_Missense_Mutation_p.S474C|NEO1_uc010uky.1_Missense_Mutation_p.S474C|NEO1_uc010ukz.1_5'UTR|NEO1_uc002avn.3_Missense_Mutation_p.S139C NM_002499 NP_002490 Q92859 NEO1_HUMAN neogenin homolog 1 precursor 474 Extracellular (Potential).|Fibronectin type-III 1. axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus pancreas(1) 1 CTTACCTACTCTGTGTTCTAC 0.567 NaN 0 0 0 0.080422 0 33 55 SNX33 257364 broad.mit.edu 37 15 75942367 75942367 + Silent SNP G G C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr15:75942367G>C uc002bau.2 + 1 1020 c.924G>C c.(922-924)CGG>CGC p.R308R IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.2_5'UTR NM_153271 NP_695003 Q8WV41 SNX33_HUMAN sorting nexin 33 308 PX. cell communication phosphatidylinositol binding|protein binding ovary(1) 1 AGCGGAAGCGGAGACTCATCC 0.582 NaN 0 0 0 0.080422 0 37 72 CLEC16A 23274 broad.mit.edu 37 16 11114144 11114144 + Silent SNP C C T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr16:11114144C>T uc002dao.2 + 12 1628 c.1398C>T c.(1396-1398)AGC>AGT p.S466S CLEC16A_uc002dan.3_Silent_p.S448S NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 466 p.0?(1) ovary(1)|central_nervous_system(1) 2 AGGAGAAAAGCGCCGCCGCCA 0.617 NaN 0 0 0 0.009096 0 4 16 C16orf87 388272 broad.mit.edu 37 16 46836943 46836943 + Missense_Mutation SNP G G C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr16:46836943G>C uc002eek.1 - 4 399 c.386C>G c.(385-387)TCT>TGT p.S129C NM_001001436 NP_001001436 Q6PH81 CP087_HUMAN hypothetical protein LOC388272 129 Potential. 0 CTTTTCATCAGACAGGTTAGC 0.313 NaN 0 0 0 0.024245 0 16 23 ABCC11 85320 broad.mit.edu 37 16 48250187 48250187 + Missense_Mutation SNP G G C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr16:48250187G>C uc002eff.1 - 6 1139 c.789C>G c.(787-789)TTC>TTG p.F263L ABCC11_uc002efg.1_Missense_Mutation_p.F263L|ABCC11_uc002efh.1_Missense_Mutation_p.F263L|ABCC11_uc010vgk.1_5'Flank|ABCC11_uc010vgl.1_Missense_Mutation_p.F263L NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 263 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CACCGGTGAAGAAGCTGATGG 0.552 NaN Cerumen_Type 0 0 0 0.048971 0 49 50 RPGRIP1L 23322 broad.mit.edu 37 16 53721797 53721797 + Missense_Mutation SNP C C G TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr16:53721797C>G uc002ehp.2 - 5 674 c.610G>C c.(610-612)GCC>CCC p.A204P RPGRIP1L_uc002eho.3_Missense_Mutation_p.A204P|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.A204P|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.A204P|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.A204P|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.A204P NM_015272 NP_056087 Q68CZ1 FTM_HUMAN RPGRIP1-like isoform a 204 Potential. negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding ovary(1) 1 all_cancers(37;0.0973) TCTCCTCTGGCTTCTTCAAGT 0.303 NaN 0 0 0 0.048971 0 40 84 NOB1 28987 broad.mit.edu 37 16 69776441 69776441 + Missense_Mutation SNP G G A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr16:69776441G>A uc002exs.2 - 9 1049 c.1033C>T c.(1033-1035)CGC>TGC p.R345C NM_014062 NP_054781 Q9ULX3 NOB1_HUMAN nin one binding protein 345 nucleus metal ion binding|protein binding 0 TGAGGGAAGCGCTGATCCTCG 0.552 NaN 0 0 0 0.069456 0 33 37 FANCA 2175 broad.mit.edu 37 16 89869700 89869700 + Silent SNP C C G TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr16:89869700C>G uc002fou.1 - 8 801 c.759G>C c.(757-759)CTG>CTC p.L253L FANCA_uc010vpn.1_Silent_p.L253L|FANCA_uc002fov.1_Silent_p.L236L|FANCA_uc002fow.1_Silent_p.L253L|FANCA_uc002fox.1_Silent_p.L253L|FANCA_uc010ciu.1_Silent_p.L221L|FANCA_uc002foy.2_Silent_p.L253L NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 253 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) CAGTTCTTCTCAGATCTGAGT 0.393 NaN D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.048971 0 52 60 KIAA0664 23277 broad.mit.edu 37 17 2598209 2598209 + Missense_Mutation SNP C C T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr17:2598209C>T uc002fuy.1 - 16 2763 c.2677G>A c.(2677-2679)GAG>AAG p.E893K KIAA0664_uc002fux.1_Missense_Mutation_p.E826K|KIAA0664_uc010ckc.1_5'UTR NM_015229 NP_056044 O75153 K0664_HUMAN hypothetical protein LOC23277 893 binding breast(2) 2 TTCCAGAGCTCCTGGGGGGTC 0.632 NaN 0 0 0 0.02938 0 7 0 MYH2 4620 broad.mit.edu 37 17 10430322 10430322 + Nonsense_Mutation SNP G G C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr17:10430322G>C uc010coi.2 - 29 4051 c.3923C>G c.(3922-3924)TCA>TGA p.S1308* uc002gml.1_Intron|MYH2_uc002gmp.3_Nonsense_Mutation_p.S1308*|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1308 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TTTGCCTCTTGATAACTGAGA 0.373 NaN 0 0 0 0.099896 0 25 3 MYO15A 51168 broad.mit.edu 37 17 18082089 18082089 + Nonsense_Mutation SNP G G T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr17:18082089G>T uc010vxh.1 + 65 10836 c.10498G>T c.(10498-10500)GAA>TAA p.E3500* uc002gsn.2_Intron|MYO15A_uc010vxi.1_Missense_Mutation_p.G781V|MYO15A_uc002gsl.2_Missense_Mutation_p.G532V|MYO15A_uc010vxm.1_3'UTR|MYO15A_uc010cpv.2_RNA NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN myosin XV 3500 Tail.|FERM. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1) 9 all_neural(463;0.228) GCAGGGACTGGAACTGTGTCG 0.592 NaN 1 0 1.85244e-09 0.083992 1.99278e-09 19 6 KIAA0100 9703 broad.mit.edu 37 17 26943411 26943411 + Missense_Mutation SNP G G A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr17:26943411G>A uc002hbu.2 - 36 6373 c.6274C>T c.(6274-6276)CGC>TGC p.R2092C SGK494_uc010waq.1_5'Flank|SGK494_uc010war.1_5'Flank|SGK494_uc002hbr.1_5'Flank|uc002hbs.1_RNA|KIAA0100_uc002hbt.2_Missense_Mutation_p.R421C NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 2092 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) GGCGATTTGCGAAATGACCTT 0.527 NaN 0 0 0 0.074837 0 35 108 NF1 4763 broad.mit.edu 37 17 29657369 29657369 + Missense_Mutation SNP G G A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 G A G G Valid Somatic Phase_I WXS Fluidigm;WGS Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr17:29657369G>A uc002hgg.2 + 39 5998 c.5665G>A c.(5665-5667)GAG>AAG p.E1889K NF1_uc002hgh.2_Missense_Mutation_p.E1868K|NF1_uc002hgi.1_Missense_Mutation_p.E901K|NF1_uc010cso.2_Missense_Mutation_p.E77K NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1889 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TTTAAAAATCGAGGGCCAGTT 0.393 NaN D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 0 0 0 0.09836 0 38 75 ADAM11 4185 broad.mit.edu 37 17 42855099 42855099 + Silent SNP G G C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr17:42855099G>C uc002ihh.2 + 23 1938 c.1938G>C c.(1936-1938)CTG>CTC p.L646L ADAM11_uc010wjd.1_Silent_p.L446L|ADAM11_uc002ihi.2_5'UTR NM_002390 NP_002381 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 preproprotein 646 Cys-rich.|Extracellular (Potential). integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding pancreas(1) 1 Prostate(33;0.0959) GCTCTGACCTGAGCTATGTGG 0.642 NaN 0 0 0 0.059317 0 31 22 GNGT2 2793 broad.mit.edu 37 17 47284179 47284179 + Silent SNP G G C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr17:47284179G>C uc002ioo.1 - 4 457 c.150C>G c.(148-150)CTC>CTG p.L50L NM_031498 NP_113686 O14610 GBGT2_HUMAN guanine nucleotide binding protein-gamma 50 G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission extracellular region|heterotrimeric G-protein complex GTPase activity|signal transducer activity 0 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) GGATGCCTTTGAGAAAAGGAT 0.493 NaN 0 0 0 0.048971 0 60 44 TOB1 10140 broad.mit.edu 37 17 48940623 48940623 + Silent SNP T T C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr17:48940623T>C uc002isw.2 - 1 791 c.756A>G c.(754-756)CCA>CCG p.P252P TOB1_uc010wmy.1_Silent_p.P252P|TOB1_uc010wmz.1_Silent_p.P252P NM_005749 NP_005740 P50616 TOB1_HUMAN transducer of ERBB2, 1 252 Poly-Pro. negative regulation of cell proliferation SH3/SH2 adaptor activity large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) gtggtggtggtggcggtggcg 0.264 NaN 0 0 0 0.004672 0 3 34 ABCA10 10349 broad.mit.edu 37 17 67148283 67148283 + Missense_Mutation SNP C C G TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr17:67148283C>G uc010dfa.1 - 37 5177 c.4298G>C c.(4297-4299)AGA>ACA p.R1433T ABCA10_uc002jhz.2_5'Flank|ABCA10_uc010wqs.1_Missense_Mutation_p.R425T|ABCA10_uc010wqt.1_RNA NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 1433 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) TAAATAATCTCTACCAAACTT 0.388 NaN 0 0 0 0.049695 0 19 36 EIF4A3 9775 broad.mit.edu 37 17 78120641 78120641 + Missense_Mutation SNP G G C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr17:78120641G>C uc010wuc.1 - 2 193 c.120C>G c.(118-120)TTC>TTG p.F40L EIF4A3_uc002jxs.2_Missense_Mutation_p.F40L NM_014740 NP_055555 P38919 IF4A3_HUMAN eukaryotic translation initiation factor 4A, 40 Q motif. mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding ovary(1) 1 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) CCATGGTGTCGAACGTGGGGG 0.473 NaN 0 0 0 0.09319 0 12 45 LAMA3 3909 broad.mit.edu 37 18 21357556 21357556 + Missense_Mutation SNP G G C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr18:21357556G>C uc002kuq.2 + 11 1527 c.1441G>C c.(1441-1443)GAA>CAA p.E481Q LAMA3_uc010dlv.1_Missense_Mutation_p.E481Q|LAMA3_uc002kur.2_Missense_Mutation_p.E481Q NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 481 Domain V. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACCAAGTTCAGAAGATCCAGT 0.328 NaN 0 0 0 0.064281 0 32 64 DCC 1630 broad.mit.edu 37 18 50923757 50923757 + Missense_Mutation SNP C C A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr18:50923757C>A uc002lfe.1 + 18 3355 c.2768C>A c.(2767-2769)ACA>AAA p.T923K DCC_uc010xdr.1_Missense_Mutation_p.T751K|DCC_uc010dpf.1_Missense_Mutation_p.T558K NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 923 Extracellular (Potential).|Fibronectin type-III 5. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GTCATGGTAACAAAAAACAGA 0.423 NaN 1 0 0.00909568 0.009096 0.00935932 4 68 DCC 1630 broad.mit.edu 37 18 50985745 50985745 + Missense_Mutation SNP C C A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr18:50985745C>A uc002lfe.1 + 24 4123 c.3536C>A c.(3535-3537)CCC>CAC p.P1179H DCC_uc010dpf.1_Missense_Mutation_p.P814H NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1179 Cytoplasmic (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGGGACTCTCCCATCCAAAGT 0.478 NaN 1 0 2.40265e-35 0.048971 2.91604e-35 55 64 ZNF532 55205 broad.mit.edu 37 18 56587489 56587489 + Missense_Mutation SNP A A C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr18:56587489A>C uc002lho.2 + 4 2517 c.1970A>C c.(1969-1971)AAC>ACC p.N657T ZNF532_uc002lhp.2_Missense_Mutation_p.N655T|ZNF532_uc010xeg.1_Missense_Mutation_p.N655T|ZNF532_uc002lhr.2_Missense_Mutation_p.N655T|ZNF532_uc002lhs.2_Missense_Mutation_p.N655T NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN zinc finger protein 532 657 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 GTTTTTTACAACAAATGCAGC 0.478 NaN 0 0 0 0.004672 0 3 60 NOTCH3 4854 broad.mit.edu 37 19 15276879 15276879 + Missense_Mutation SNP C C A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr19:15276879C>A uc002nan.2 - 30 5462 c.5386G>T c.(5386-5388)GCT>TCT p.A1796S NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 1796 Cytoplasmic (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CAGAAGGAAGCCAGCATTAGC 0.552 NaN 1 0 3.45872e-05 0.028581 3.66521e-05 16 23 ANKRD27 84079 broad.mit.edu 37 19 33117659 33117659 + Missense_Mutation SNP G G T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr19:33117659G>T uc002ntn.1 - 16 1651 c.1495C>A c.(1495-1497)CCG>ACG p.P499T NM_032139 NP_115515 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 499 ANK 3. early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1) 5 Esophageal squamous(110;0.137) AGGTGGAGCGGAGTGGCTCCA 0.607 NaN 1 0 1.6384e-10 0.02938 1.78964e-10 5 2 KIAA0355 9710 broad.mit.edu 37 19 34791438 34791438 + Silent SNP C C T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr19:34791438C>T uc002nvd.3 + 2 919 c.60C>T c.(58-60)GGC>GGT p.G20G KIAA0355_uc010edk.1_Silent_p.G10G NM_014686 NP_055501 O15063 K0355_HUMAN hypothetical protein LOC9710 20 ovary(1) 1 Esophageal squamous(110;0.162) TCCTGCTTGGCGGGTCCAAGC 0.622 NaN 0 0 0 0.004672 0 3 43 PRX 57716 broad.mit.edu 37 19 40902836 40902836 + Missense_Mutation SNP C C T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr19:40902836C>T uc002onr.2 - 7 1692 c.1423G>A c.(1423-1425)GAG>AAG p.E475K PRX_uc002onq.2_Missense_Mutation_p.E336K|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 475 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].|7. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGTTTCATCTCTGACACCTTG 0.582 NaN 0 0 0 0.048971 0 56 95 PRX 57716 broad.mit.edu 37 19 40903232 40903232 + Missense_Mutation SNP C C T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr19:40903232C>T uc002onr.2 - 7 1296 c.1027G>A c.(1027-1029)GAG>AAG p.E343K PRX_uc002onq.2_Missense_Mutation_p.E204K|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 343 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCCTCCACCTCTGCACCCGGC 0.652 NaN 0 0 0 0.062417 0 17 31 KLK12 43849 broad.mit.edu 37 19 51535219 51535219 + Missense_Mutation SNP C C T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr19:51535219C>T uc002pvg.1 - 3 490 c.370G>A c.(370-372)GTT>ATT p.V124I KLK12_uc010ycp.1_RNA|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvh.1_Missense_Mutation_p.V124I|KLK12_uc002pvi.1_Missense_Mutation_p.V124I|KLK12_uc002pvj.1_Intron NM_145894 NP_665901 Q9UKR0 KLK12_HUMAN kallikrein 12 isoform 2 124 Peptidase S1. proteolysis extracellular region|soluble fraction serine-type endopeptidase activity ovary(1) 1 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399) AGGGGTTGAACGCTGCTGGTT 0.677 NaN 0 0 0 0.043863 0 19 32 LILRA2 11027 broad.mit.edu 37 19 55085555 55085555 + Missense_Mutation SNP G G A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr19:55085555G>A uc002qgg.3 + 2 136 c.47G>A c.(46-48)GGC>GAC p.G16D LILRA2_uc010ern.2_Missense_Mutation_p.G16D|LILRA2_uc002qgf.2_Missense_Mutation_p.G16D|LILRA2_uc010yfe.1_Missense_Mutation_p.G16D|LILRA2_uc010yff.1_Intron|LILRA2_uc010ero.2_Intron|LILRA2_uc010yfg.1_Missense_Mutation_p.G16D NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 16 defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) CTGAGTCTGGGCCCCAGGACC 0.647 NaN 0 0 0 0.041601 0 31 53 ZSCAN1 284312 broad.mit.edu 37 19 58563891 58563891 + Missense_Mutation SNP G G A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr19:58563891G>A uc002qrc.1 + 5 746 c.499G>A c.(499-501)GCC>ACC p.A167T NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 167 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) AGTGGCAGCAGCCCCAGCACT 0.652 NaN 0 0 0 0.059317 0 32 25 DYSF 8291 broad.mit.edu 37 2 71748031 71748031 + Silent SNP G G A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr2:71748031G>A uc002sie.2 + 11 1426 c.1050G>A c.(1048-1050)GCG>GCA p.A350A DYSF_uc010feg.2_Silent_p.A381A|DYSF_uc010feh.2_Silent_p.A350A|DYSF_uc002sig.3_Silent_p.A350A|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.A350A|DYSF_uc010fef.2_Silent_p.A381A|DYSF_uc010fei.2_Silent_p.A381A|DYSF_uc010fek.2_Silent_p.A382A|DYSF_uc010fej.2_Silent_p.A351A|DYSF_uc010fel.2_Silent_p.A351A|DYSF_uc010feo.2_Silent_p.A382A|DYSF_uc010fem.2_Silent_p.A351A|DYSF_uc010fen.2_Silent_p.A382A|DYSF_uc002sif.2_Silent_p.A351A NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 350 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 GGGACGAAGCGCCTGTGAGTA 0.532 NaN 0 0 0 0.0333 0 17 28 SLC5A7 60482 broad.mit.edu 37 2 108626805 108626805 + Missense_Mutation SNP G G C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr2:108626805G>C uc002tdv.2 + 9 1507 c.1231G>C c.(1231-1233)GAC>CAC p.D411H SLC5A7_uc010ywm.1_Missense_Mutation_p.D164H|SLC5A7_uc010fjj.2_Missense_Mutation_p.D411H|SLC5A7_uc010ywn.1_Missense_Mutation_p.D298H NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 411 Helical; (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) CCTCAGTTCTGACCTTGTTTA 0.488 NaN 0 0 0 0.041601 0 32 40 LRP1B 53353 broad.mit.edu 37 2 141457909 141457909 + Missense_Mutation SNP C C G TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr2:141457909C>G uc002tvj.1 - 41 7681 c.6709G>C c.(6709-6711)GGT>CGT p.G2237R NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2237 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CGGTTGGTACCTTTTCTTCTT 0.348 NaN TSP Lung(27;0.18) 0 0 0 0.09836 0 42 55 TTN 7273 broad.mit.edu 37 2 179650718 179650718 + Missense_Mutation SNP C C T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr2:179650718C>T uc010zfg.1 - 14 2451 c.2227G>A c.(2227-2229)GCC>ACC p.A743T TTN_uc010zfh.1_Missense_Mutation_p.A697T|TTN_uc010zfi.1_Missense_Mutation_p.A697T|TTN_uc010zfj.1_Missense_Mutation_p.A697T|TTN_uc002unb.2_Missense_Mutation_p.A743T|TTN_uc010frg.1_Missense_Mutation_p.A325T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 743 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) ACCTTTGCGGCGGAAATGCGT 0.547 NaN 0 0 0 0.083992 0 24 33 ZSWIM2 151112 broad.mit.edu 37 2 187694567 187694567 + Missense_Mutation SNP G G T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr2:187694567G>T uc002upu.1 - 8 1022 c.982C>A c.(982-984)CTC>ATC p.L328I NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 328 apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) ATCAGTTGGAGAGGCAGTGAT 0.393 NaN 1 0 8.01111e-26 0.039052 9.55948e-26 42 64 ECEL1 9427 broad.mit.edu 37 2 233345140 233345140 + Silent SNP G G A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr2:233345140G>A uc002vsv.2 - 17 2402 c.2197C>T c.(2197-2199)CTG>TTG p.L733L ECEL1_uc010fya.1_Silent_p.L731L|ECEL1_uc010fyb.1_Silent_p.L440L NM_004826 NP_004817 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 733 Lumenal (Potential). neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity central_nervous_system(2) 2 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) TTGTCAGTCAGCACCTGCAGG 0.637 NaN 0 0 0 0.0333 0 16 28 MMP9 4318 broad.mit.edu 37 20 44640373 44640373 + Missense_Mutation SNP C C A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr20:44640373C>A uc002xqz.2 + 6 1003 c.984C>A c.(982-984)TTC>TTA p.F328L NM_004994 NP_004985 P14780 MMP9_HUMAN matrix metalloproteinase 9 preproprotein 328 Fibronectin type-II 2. collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) TCTTCGGCTTCTGCCCGACCC 0.637 NaN OREG0025989 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 1.12685e-05 0.047766 1.2031e-05 8 30 SYCP2 10388 broad.mit.edu 37 20 58439419 58439419 + Missense_Mutation SNP G G A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr20:58439419G>A uc002yaz.2 - 44 4679 c.4540C>T c.(4540-4542)CGC>TGC p.R1514C NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1514 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding ovary(3)|lung(2) 5 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) AGTTCTCTGCGTACATTAAGA 0.299 NaN 0 0 0 0.02938 0 6 14 C20orf20 55257 broad.mit.edu 37 20 61428556 61428556 + Silent SNP G G C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr20:61428556G>C uc002ydi.2 + 2 314 c.243G>C c.(241-243)CTG>CTC p.L81L NM_018270 NP_060740 Q9NV56 MRGBP_HUMAN MRG-binding protein 81 chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent H4/H2A histone acetyltransferase complex 0 Breast(26;3.65e-08) GGGACCATCTGAGCACCATGT 0.607 NaN 0 0 0 0.028581 0 17 33 C20orf20 55257 broad.mit.edu 37 20 61429948 61429948 + Missense_Mutation SNP G G C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr20:61429948G>C uc002ydi.2 + 3 351 c.280G>C c.(280-282)GAG>CAG p.E94Q NM_018270 NP_060740 Q9NV56 MRGBP_HUMAN MRG-binding protein 94 chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent H4/H2A histone acetyltransferase complex 0 Breast(26;3.65e-08) GCATGAGTCTGAGATTCTTCC 0.478 NaN 0 0 0 0.048971 0 68 164 CHODL 140578 broad.mit.edu 37 21 19632552 19632552 + Missense_Mutation SNP C C G TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr21:19632552C>G uc002ykv.2 + 4 974 c.583C>G c.(583-585)CTT>GTT p.L195V CHODL_uc002ykr.2_Missense_Mutation_p.L154V|CHODL_uc002yks.2_Missense_Mutation_p.L154V|CHODL_uc002ykt.2_Missense_Mutation_p.L154V|CHODL_uc002yku.2_Missense_Mutation_p.L154V NM_024944 NP_079220 Q9H9P2 CHODL_HUMAN chondrolectin precursor 195 Extracellular (Potential). muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding upper_aerodigestive_tract(1) 1 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) AAAGCCTTATCTTACAAATCA 0.323 NaN 0 0 0 0.092188 0 36 59 BCL2L13 23786 broad.mit.edu 37 22 18171756 18171756 + Silent SNP C C T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr22:18171756C>T uc002zmw.2 + 4 452 c.234C>T c.(232-234)TTC>TTT p.F78F BCL2L13_uc002zmu.2_Silent_p.F78F|BCL2L13_uc002zmv.2_Silent_p.F78F|BCL2L13_uc002zmx.2_Intron|BCL2L13_uc002zmy.2_Silent_p.F78F|BCL2L13_uc010gqy.2_Intron|BCL2L13_uc011agk.1_Intron|BCL2L13_uc010gqz.2_5'UTR|BCL2L13_uc002zmz.2_5'UTR NM_015367 NP_056182 Q9BXK5 B2L13_HUMAN BCL2-like 13 (apoptosis facilitator) 78 induction of apoptosis integral to membrane|mitochondrial membrane|nucleus caspase activator activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_epithelial(15;0.123) Lung(27;0.199) CTTCAGCCTTCACCAGCACAG 0.323 NaN 0 0 0 0.059317 0 33 31 MICAL3 57553 broad.mit.edu 37 22 18293495 18293495 + Missense_Mutation SNP C C G TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr22:18293495C>G uc002zng.3 - 28 5883 c.5530G>C c.(5530-5532)GAG>CAG p.E1844Q MICAL3_uc011agl.1_Missense_Mutation_p.E1760Q|MICAL3_uc010gre.1_RNA NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 1844 Potential. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) CGCTTAAGCTCCTCCTGCTTG 0.592 NaN 0 0 0 0.062417 0 20 21 DEPDC5 9681 broad.mit.edu 37 22 32266660 32266660 + Missense_Mutation SNP A A C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr22:32266660A>C uc003als.2 + 33 3464 c.3322A>C c.(3322-3324)AGC>CGC p.S1108R DEPDC5_uc011als.1_Missense_Mutation_p.S1039R|DEPDC5_uc011alu.1_Missense_Mutation_p.S1139R|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.S1130R|DEPDC5_uc003alu.2_Missense_Mutation_p.S557R|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.S460R|DEPDC5_uc003alw.2_Missense_Mutation_p.S406R|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_Missense_Mutation_p.S134R|DEPDC5_uc011aly.1_5'UTR NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 1108 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 CAGAGGCAACAGCCAGACCTT 0.512 NaN 0 0 0 0.0333 0 15 32 H1F0 3005 broad.mit.edu 37 22 38201996 38201996 + Missense_Mutation SNP A A C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr22:38201996A>C uc003aty.2 + 1 883 c.445A>C c.(445-447)AAG>CAG p.K149Q GCAT_uc003atz.2_5'Flank|GCAT_uc003aua.1_5'Flank NM_005318 NP_005309 P07305 H10_HUMAN H1 histone family, member 0 149 DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome DNA binding 0 Melanoma(58;0.045) GGCCAAGAAGAAGCTGGCTGC 0.547 NaN 0 0 0 0.059317 0 35 25 MEI1 150365 broad.mit.edu 37 22 42126536 42126536 + Missense_Mutation SNP G G C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr22:42126536G>C uc003baz.1 + 9 1016 c.991G>C c.(991-993)GAG>CAG p.E331Q WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc003bay.3_Missense_Mutation_p.E331Q|MEI1_uc011apd.1_RNA NM_152513 NP_689726 Q5TIA1 MEI1_HUMAN meiosis defective 1 331 binding central_nervous_system(1)|skin(1) 2 GTTCCTCTTTGAGCATCTTTC 0.438 NaN 0 0 0 0.0333 0 17 20 EDEM1 9695 broad.mit.edu 37 3 5248946 5248946 + Missense_Mutation SNP C C A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr3:5248946C>A uc003bqi.2 + 7 1458 c.1326C>A c.(1324-1326)TTC>TTA p.F442L EDEM1_uc011asz.1_Missense_Mutation_p.F220L|EDEM1_uc003bqh.2_Missense_Mutation_p.F442L NM_014674 NP_055489 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 442 Lumenal (Potential). ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding ovary(2)|breast(1) 3 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) AGGCCTTTTTCCCTGGACTGC 0.458 NaN 1 0 5.44703e-19 0.11126 6.39238e-19 42 49 EDEM1 9695 broad.mit.edu 37 3 5251877 5251877 + Missense_Mutation SNP C C G TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr3:5251877C>G uc003bqi.2 + 9 1659 c.1527C>G c.(1525-1527)TTC>TTG p.F509L EDEM1_uc003bqh.2_Missense_Mutation_p.F509L NM_014674 NP_055489 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 509 Lumenal (Potential). ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding ovary(2)|breast(1) 3 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) AGAATCCCTTCTACCTCCATG 0.448 NaN 0 0 0 0.064281 0 31 50 GRM7 2917 broad.mit.edu 37 3 7721860 7721860 + Missense_Mutation SNP G G A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr3:7721860G>A uc003bqm.2 + 9 2850 c.2576G>A c.(2575-2577)CGG>CAG p.R859Q GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.R859Q|GRM7_uc003bql.2_Missense_Mutation_p.R859Q|GRM7_uc003bqn.1_Missense_Mutation_p.R442Q NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 859 Cytoplasmic (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) GTCCAGAAACGGAAGCGAAGC 0.517 NaN 0 0 0 0.069288 0 22 26 MST1R 4486 broad.mit.edu 37 3 49929005 49929005 + Nonsense_Mutation SNP C C A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr3:49929005C>A uc003cxy.3 - 16 3625 c.3361G>T c.(3361-3363)GAG>TAG p.E1121* MST1R_uc011bdc.1_5'UTR NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 1121 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) TGCTGCATCTCTGTGATGCCT 0.582 NaN 1 0 2.42023e-17 0.059317 2.81699e-17 32 32 SENP7 57337 broad.mit.edu 37 3 101085458 101085458 + Missense_Mutation SNP C C G TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr3:101085458C>G uc003dut.2 - 9 1245 c.1134G>C c.(1132-1134)TTG>TTC p.L378F SENP7_uc003duu.2_Missense_Mutation_p.L313F|SENP7_uc003duv.2_Missense_Mutation_p.L345F|SENP7_uc003duw.2_Missense_Mutation_p.L312F|SENP7_uc003dux.2_Missense_Mutation_p.L214F NM_020654 NP_065705 Q9BQF6 SENP7_HUMAN sentrin/SUMO-specific protease 7 isoform 1 378 proteolysis nucleus cysteine-type peptidase activity ovary(3)|lung(2) 5 TGGCATTACTCAAAGTCAACT 0.403 NaN 0 0 0 0.074837 0 34 41 ZBTB11 27107 broad.mit.edu 37 3 101370486 101370486 + Missense_Mutation SNP C C T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr3:101370486C>T uc003dve.3 - 11 2916 c.2686G>A c.(2686-2688)GCT>ACT p.A896T NM_014415 NP_055230 O95625 ZBT11_HUMAN zinc finger protein ZNF-U69274 896 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 CGGGCATCAGCCCAAGCTACT 0.418 NaN 0 0 0 0.064281 0 34 37 EPHB3 2049 broad.mit.edu 37 3 184295484 184295484 + Silent SNP C C T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr3:184295484C>T uc003foz.2 + 7 1955 c.1518C>T c.(1516-1518)AAC>AAT p.N506N NM_004443 NP_004434 P54753 EPHB3_HUMAN ephrin receptor EphB3 precursor 506 Fibronectin type-III 2.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1) 11 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GCCAGATGAACTCCGTGCAGC 0.657 NaN 0 0 0 0.080422 0 37 42 TACC3 10460 broad.mit.edu 37 4 1746708 1746708 + Missense_Mutation SNP G G A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr4:1746708G>A uc003gdo.2 + 16 2593 c.2485G>A c.(2485-2487)GAC>AAC p.D829N TACC3_uc003gdp.2_Missense_Mutation_p.D469N|TACC3_uc010ica.2_Missense_Mutation_p.D250N NM_006342 NP_006333 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing 829 Potential. centrosome ovary(1)|central_nervous_system(1) 2 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) CAGGATCTGCGACGACCTCAT 0.597 NaN 0 0 0 0.048971 0 80 5 STBD1 8987 broad.mit.edu 37 4 77230916 77230916 + Silent SNP C C T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr4:77230916C>T uc003hka.2 + 2 1086 c.840C>T c.(838-840)TTC>TTT p.F280F STBD1_uc003hjy.2_3'UTR|STBD1_uc011cbv.1_3'UTR|STBD1_uc011cbw.1_Silent_p.F131F NM_003943 NP_003934 O95210 STBD1_HUMAN starch binding domain 1 280 CBM20.|Cytoplasmic (Potential). carbohydrate metabolic process|muscle contraction integral to plasma membrane|membrane fraction carbohydrate binding|catalytic activity|protein binding ovary(1) 1 Lung(101;0.196) ATGTGCAATTCATTGCAGTAA 0.473 NaN 0 0 0 0.069288 0 21 25 HMGB2 3148 broad.mit.edu 37 4 174254073 174254073 + Missense_Mutation SNP C C G TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr4:174254073C>G uc011ckc.1 - 3 490 c.370G>C c.(370-372)GAT>CAT p.D124H HMGB2_uc003ita.3_Missense_Mutation_p.D124H|HMGB2_uc003itb.2_Missense_Mutation_p.D124H|HMGB2_uc003itc.2_3'UTR NM_001130689 NP_001124161 P26583 HMGB2_HUMAN high-mobility group box 2 124 HMG box 2. base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding 0 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) TTTGCAGTATCCCCAATGGAT 0.408 NaN 0 0 0 0.048971 0 76 104 PPIC 5480 broad.mit.edu 37 5 122359598 122359598 + Missense_Mutation SNP G G A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr5:122359598G>A uc003kth.2 - 5 716 c.611C>T c.(610-612)CCT>CTT p.P204L NM_000943 NP_000934 P45877 PPIC_HUMAN peptidylprolyl isomerase C 204 protein folding|signal transduction cytoplasm cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding ovary(1) 1 all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505) L-Proline(DB00172) AACCACAAAAGGCGTTTTCAC 0.413 NaN 0 0 0 0.048971 0 134 76 SEPT8 23176 broad.mit.edu 37 5 132100049 132100049 + Missense_Mutation SNP C C T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr5:132100049C>T uc003kxr.2 - 3 452 c.214G>A c.(214-216)GAG>AAG p.E72K SEPT8_uc003kxs.1_Missense_Mutation_p.E72K|SEPT8_uc003kxu.2_Missense_Mutation_p.E72K|SEPT8_uc011cxi.1_Missense_Mutation_p.E72K|SEPT8_uc003kxv.2_Missense_Mutation_p.E72K|SEPT8_uc003kxt.2_Missense_Mutation_p.E12K NM_001098811 NP_001092281 Q92599 SEPT8_HUMAN septin 8 isoform a 72 cell cycle septin complex GTP binding|protein binding ovary(2) 2 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTGGCTTCCTCAGTCTCGAAG 0.582 NaN 0 0 0 0.076483 0 21 11 FBXL21 26223 broad.mit.edu 37 5 135273129 135273129 + Missense_Mutation SNP G G C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr5:135273129G>C uc010jec.1 + 3 403 c.382G>C c.(382-384)GAG>CAG p.E128Q FBXL21_uc003lbc.2_RNA NM_012159 NP_036291 Q9UKT6 FXL21_HUMAN F-box and leucine-rich repeat protein 21 128 rhythmic process ubiquitin ligase complex ubiquitin-protein ligase activity lung(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CAGTAGCGCTGAGTCAGCAGA 0.378 NaN 0 0 0 0.080935 0 12 38 PCDHAC1 56135 broad.mit.edu 37 5 140306671 140306671 + Missense_Mutation SNP A A G TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr5:140306671A>G uc003lih.2 + 1 370 c.194A>G c.(193-195)TAC>TGC p.Y65C 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_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.Y65C NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 65 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGAGCTCTACTTCGGGGTG 0.637 NaN 0 0 0 0.045705 0 29 12 HIST1H2BA 255626 broad.mit.edu 37 6 25727255 25727255 + Missense_Mutation SNP C C G TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr6:25727255C>G uc003nfd.2 + 1 119 c.119C>G c.(118-120)TCT>TGT p.S40C HIST1H2AA_uc003nfc.2_5'Flank NM_170610 NP_733759 Q96A08 H2B1A_HUMAN histone cluster 1, H2ba 40 nucleosome assembly nucleosome|nucleus DNA binding kidney(1) 1 GAGAGTTATTCTATTTACATC 0.428 NaN 0 0 0 0.080422 0 38 20 OR2H2 7932 broad.mit.edu 37 6 29556637 29556637 + Missense_Mutation SNP G G C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr6:29556637G>C uc003nmr.1 + 1 955 c.916G>C c.(916-918)GAA>CAA p.E306Q GABBR1_uc003nmp.3_Intron NM_007160 NP_009091 O95918 OR2H2_HUMAN olfactory receptor, family 2, subfamily H, 306 Cytoplasmic (Potential). defense response|mating|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GCTGGGGAAGGAAATGGGGCT 0.478 NaN 0 0 0 0.0333 0 18 27 HLA-A 3105 broad.mit.edu 37 6 29913231 29913231 + Nonstop_Mutation SNP G G T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr6:29913231G>T uc003nol.2 + 8 1097 c.1097G>T c.(1096-1098)TGA>TTA p.*366L HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_5'Flank|HLA-A_uc003non.2_Nonstop_Mutation_p.*372L|HLA-A_uc003noo.2_Nonsense_Mutation_p.E367*|HLA-A_uc010jrr.2_Nonstop_Mutation_p.*300L|HLA-A_uc003nom.2_Nonsense_Mutation_p.E244*|HLA-A_uc011dmc.1_Nonstop_Mutation_p.*245L|HLA-A_uc011dmd.1_3'UTR NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A 366 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 TCTATAGTGTGAGACAGCTGC 0.448 NaN Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of Multiple Myeloma(9;0.094) 1 0 2.35188e-11 0.038395 2.60912e-11 14 37 BAT2 7916 broad.mit.edu 37 6 31597445 31597445 + Missense_Mutation SNP C C A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr6:31597445C>A uc003nvb.3 + 14 2326 c.2077C>A c.(2077-2079)CCA>ACA p.P693T BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.P693T NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 693 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 TGTGCCAGCTCCACAGGCTCC 0.572 NaN 1 0 7.92952e-12 0.0918 8.93645e-12 25 41 GSTA2 2939 broad.mit.edu 37 6 52615381 52615381 + Missense_Mutation SNP C C A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr6:52615381C>A uc003pay.2 - 7 813 c.663G>T c.(661-663)AGG>AGT p.R221S NM_000846 NP_000837 P09210 GSTA2_HUMAN glutathione S-transferase alpha 2 221 glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.118) Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163) TTTATTAAAACCTGAAAATCT 0.413 NaN 1 0 0.000442599 0.058154 0.000462126 7 84 COL12A1 1303 broad.mit.edu 37 6 75884895 75884895 + Missense_Mutation SNP G G T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr6:75884895G>T uc003phs.2 - 13 2735 c.2569C>A c.(2569-2571)CAA>AAA p.Q857K COL12A1_uc003pht.2_Intron NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 857 Fibronectin type-III 5. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 GTGACCTCTTGAGTTTCACCC 0.498 NaN 1 0 5.41189e-41 0.048971 6.6249e-41 71 109 KPNA5 3841 broad.mit.edu 37 6 117053364 117053364 + Missense_Mutation SNP C C G TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr6:117053364C>G uc003pxh.2 + 14 1629 c.1498C>G c.(1498-1500)CTG>GTG p.L500V NM_002269 NP_002260 O15131 IMA5_HUMAN karyopherin alpha 5 497 ARM 10; atypical. 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) GGCATTTGATCTGATTGAACA 0.343 NaN 0 0 0 0.086207 0 33 40 FZD1 8321 broad.mit.edu 37 7 90895308 90895308 + Silent SNP C C T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr7:90895308C>T uc003ula.2 + 1 1526 c.1113C>T c.(1111-1113)GCC>GCT p.A371A NM_003505 NP_003496 Q9UP38 FZD1_HUMAN frizzled 1 precursor 371 Helical; Name=2; (Potential). autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding 0 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) CCTACATCGCCGGCTTCCTCC 0.632 NaN 0 0 0 0.041601 0 29 64 DOCK4 9732 broad.mit.edu 37 7 111379265 111379265 + Silent SNP G G T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr7:111379265G>T uc003vfx.2 - 48 5399 c.5130C>A c.(5128-5130)TCC>TCA p.S1710S DOCK4_uc011kml.1_Silent_p.S591S|DOCK4_uc011kmm.1_Silent_p.S617S|DOCK4_uc003vfw.2_Silent_p.S1160S|DOCK4_uc003vfy.2_Silent_p.S1755S|DOCK4_uc003vfv.2_Silent_p.S23S NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1710 Ser-rich. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) AGTTTTCTCGGGAATGTTTGT 0.502 NaN 1 0 0.00448238 0.047766 0.00464597 6 74 NAT1 9 broad.mit.edu 37 8 18080042 18080042 + Missense_Mutation SNP C C G TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr8:18080042C>G uc010ltd.2 + 5 853 c.486C>G c.(484-486)GAC>GAG p.D162E NAT1_uc003wyt.2_Missense_Mutation_p.D224E|NAT1_uc003wyu.2_Missense_Mutation_p.D162E|NAT1_uc003wyv.2_Missense_Mutation_p.D162E|NAT1_uc010ltc.2_Missense_Mutation_p.D162E|NAT1_uc003wys.2_Missense_Mutation_p.D224E|NAT1_uc003wyr.2_Missense_Mutation_p.D162E|NAT1_uc003wyq.2_Missense_Mutation_p.D162E|NAT1_uc011kyl.1_Missense_Mutation_p.D162E NM_001160179 NP_001153651 P18440 ARY1_HUMAN N-acetyltransferase 1 isoform a 162 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity 0 Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208) GGTATCTAGACCAAATCAGAA 0.428 NaN 0 0 0 0.092188 0 39 54 DENND3 22898 broad.mit.edu 37 8 142151335 142151335 + Missense_Mutation SNP C C T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr8:142151335C>T uc003yvy.2 + 4 573 c.295C>T c.(295-297)CGG>TGG p.R99W DENND3_uc003yvw.1_Missense_Mutation_p.R112W|DENND3_uc003yvx.2_Silent_p.T177T|DENND3_uc010mep.2_Missense_Mutation_p.R112W NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 99 ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CAAAACGCACCGGGAGTGTCC 0.537 NaN 0 0 0 0.014758 0 5 57 ARHGAP39 80728 broad.mit.edu 37 8 145773665 145773665 + Missense_Mutation SNP C C T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr8:145773665C>T uc003zdt.1 - 6 1360 c.805G>A c.(805-807)GAG>AAG p.E269K ARHGAP39_uc011llk.1_Missense_Mutation_p.E269K|ARHGAP39_uc003zds.1_Missense_Mutation_p.E269K NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN KIAA1688 protein 269 Pro-rich. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity 0 GGCCTCCTCTCTGGGAAGAAG 0.716 NaN 0 0 0 0.021553 0 6 4 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr9:20414340G>A uc003zoe.2 - 5 763 c.504C>T c.(502-504)AGC>AGT p.S168S MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.A130V NM_004529 NP_004520 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.144 NaN T MLL ALL 0 0 0 0.069288 0 12 892 ALDH1B1 219 broad.mit.edu 37 9 38396624 38396624 + Silent SNP C C T rs141592792 TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr9:38396624C>T uc004aay.2 + 2 991 c.879C>T c.(877-879)ATC>ATT p.I293I NM_000692 NP_000683 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1B1 precursor 293 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity skin(1) 1 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) GCCCCAGCATCGTGCTGGCCG 0.617 NaN 0 0 0 0.108266 0 26 33 FKBP15 23307 broad.mit.edu 37 9 115936807 115936807 + Missense_Mutation SNP C C G TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr9:115936807C>G uc004bgs.2 - 22 2398 c.2280G>C c.(2278-2280)GAG>GAC p.E760D FKBP15_uc004bgr.2_Missense_Mutation_p.E197D|FKBP15_uc011lxc.1_Missense_Mutation_p.E341D|FKBP15_uc011lxd.1_Missense_Mutation_p.E692D NM_015258 NP_056073 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 760 Potential. endocytosis|protein folding axon|early endosome actin binding ovary(3) 3 TTTCATCTATCTCCTCCTCGG 0.468 NaN 0 0 0 0.048971 0 59 15 TLR4 7099 broad.mit.edu 37 9 120475702 120475702 + Silent SNP C C T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr9:120475702C>T uc004bjz.2 + 3 1587 c.1296C>T c.(1294-1296)TCC>TCT p.S432S TLR4_uc004bka.2_Silent_p.S392S|TLR4_uc004bkb.2_Silent_p.S232S NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 432 LRR 13.|Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 TCCAGCATTCCAATTTGAAAC 0.378 NaN 0 0 0 0.086207 0 40 12 FUBP3 8939 broad.mit.edu 37 9 133499065 133499065 + Silent SNP G G T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr9:133499065G>T uc004bzr.1 + 11 1050 c.942G>T c.(940-942)GCG>GCT p.A314A FUBP3_uc010mzd.1_Silent_p.A254A|FUBP3_uc004bzs.1_Silent_p.A227A NM_003934 NP_003925 Q96I24 FUBP3_HUMAN far upstream element (FUSE) binding protein 3 314 KH 3. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;0.000279) AGCATGCAGCGCATATCATCA 0.557 NaN 1 0 6.33239e-15 0.055883 7.2516e-15 19 4 TSC1 7248 broad.mit.edu 37 9 135781358 135781358 + Nonsense_Mutation SNP A A T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 A T A A Valid Somatic Phase_I WXS Fluidigm;WGS Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr9:135781358A>T uc004cca.2 - 15 1841 c.1607T>A c.(1606-1608)TTA>TAA p.L536* TSC1_uc004ccb.3_Nonsense_Mutation_p.L535*|TSC1_uc011mcq.1_Nonsense_Mutation_p.L485*|TSC1_uc011mcr.1_Intron NM_000368 NP_000359 Q92574 TSC1_HUMAN tuberous sclerosis 1 protein isoform 1 536 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1) 14 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) GGAGGAGTGTAAAGGCTCAGG 0.587 NaN D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 0 0 0 0.083992 0 24 5 FAM9B 171483 broad.mit.edu 37 X 8995957 8995957 + Silent SNP C C T TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chrX:8995957C>T uc011mhu.1 - 6 533 c.444G>A c.(442-444)AGG>AGA p.R148R FAM9B_uc011mhv.1_RNA|FAM9B_uc004csh.2_Silent_p.R188R NM_205849 NP_995321 Q8IZU0 FAM9B_HUMAN family with sequence similarity 9, member B 148 nucleus 0 Hepatocellular(5;0.219) GCCTCTCTCTCCTAACACTTC 0.323 NaN 0 0 0 0.039052 0 37 51 WNK3 65267 broad.mit.edu 37 X 54259293 54259293 + Nonsense_Mutation SNP G G A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chrX:54259293G>A uc004dtd.1 - 21 5087 c.4648C>T c.(4648-4650)CGA>TGA p.R1550* WNK3_uc004dtc.1_Nonsense_Mutation_p.R1597* NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 1550 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 GGGCGGCTTCGAAGTTTGCTT 0.408 NaN 0 0 0 0.048971 0 43 39 GPRASP1 9737 broad.mit.edu 37 X 101910483 101910483 + Missense_Mutation SNP G G C TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chrX:101910483G>C uc004ejj.3 + 5 2443 c.1642G>C c.(1642-1644)GAG>CAG p.E548Q GPRASP1_uc004eji.3_Missense_Mutation_p.E548Q|GPRASP1_uc010nod.2_Missense_Mutation_p.E548Q NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 548 Glu-rich. cytoplasm protein binding ovary(1)|lung(1) 2 TGAGGAAGAAGAGGTCATTGG 0.517 NaN 0 0 0 0.048971 0 68 16 MAGEC3 139081 broad.mit.edu 37 X 140953305 140953305 + Missense_Mutation SNP C C A TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chrX:140953305C>A uc011mwp.1 + 2 172 c.172C>A c.(172-174)CAT>AAT p.H58N NM_138702 NP_619647 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 isoform 1 58 skin(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TCATCTTGGGCATCTGAGGGA 0.512 NaN 1 0 1.17673e-23 0.048971 1.39246e-23 49 57 TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr12:72094757delT uc001sws.2 + 6 1576 c.993delT c.(991-993)GGTfs p.G331fs TMEM19_uc009zru.1_RNA NM_018279 NP_060749 Q96HH6 TMM19_HUMAN transmembrane protein 19 331 Helical; (Potential). integral to membrane 0 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGCTTGGGGTTTTTGGCCCA 0.433 NaN NaN NaN NaN NaN NaN 8 358 --- --- ZCCHC8 55596 broad.mit.edu 37 12 122975027 122975027 + Frame_Shift_Del DEL G G - TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr12:122975027delG uc001ucn.2 - 4 536 c.405delC c.(403-405)TCCfs p.S135fs ZCCHC8_uc009zxp.2_5'UTR|ZCCHC8_uc009zxq.2_5'UTR NM_017612 NP_060082 Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 135 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) AAAGATTAAAGGAAGTCTTTT 0.338 NaN NaN NaN NaN NaN NaN 20 27 --- --- LLGL2 3993 broad.mit.edu 37 17 73569700 73569701 + Frame_Shift_Ins INS - - G rs112393371 byFrequency TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr17:73569700_73569701insG uc002joh.2 + 21 3018_3019 c.2864_2865insG c.(2863-2865)CCGfs p.P955fs LLGL2_uc002joi.2_Frame_Shift_Ins_p.P955fs|LLGL2_uc010dgg.1_Frame_Shift_Ins_p.P955fs|LLGL2_uc002joj.2_Frame_Shift_Ins_p.P944fs|LLGL2_uc010wsd.1_Frame_Shift_Ins_p.P582fs NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 isoform c 955 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding ovary(2) 2 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) AAGAAGGCCCCGAGCCGAGCCA 0.668 NaN NaN NaN NaN NaN NaN 8 52 --- --- KANK3 256949 broad.mit.edu 37 19 8398950 8398961 + In_Frame_Del DEL TCGCTGTCGCCA TCGCTGTCGCCA - rs111751275 TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr19:8398950_8398961delTCGCTGTCGCCA uc010dwa.2 - 5 1533_1544 c.1467_1478delTGGCGACAGCGA c.(1465-1479)GATGGCGACAGCGAG>GAG p.DGDS489del KANK3_uc002mjp.1_In_Frame_Del_p.MATA1del NM_198471 NP_940873 Q6NY19 KANK3_HUMAN ankyrin repeat domain 47 489_492 0 GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC 0.693 NaN NaN NaN NaN NaN NaN 3 5 --- --- RAVER1 125950 broad.mit.edu 37 19 10428414 10428414 + Frame_Shift_Del DEL C C - TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr19:10428414delC uc002moa.2 - 12 2156 c.2076delG c.(2074-2076)GGGfs p.G692fs FDX1L_uc002mnx.1_5'Flank|FDX1L_uc002mny.1_5'Flank|RAVER1_uc002mnz.2_Frame_Shift_Del_p.G60fs NM_133452 NP_597709 Q8IY67 RAVR1_HUMAN RAVER1 519 cytoplasm|nucleus nucleotide binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) GGCCCAGGAGCCCTTCTCCGG 0.697 NaN NaN NaN NaN NaN NaN 2 4 --- --- PDXK 8566 broad.mit.edu 37 21 45161607 45161607 + Frame_Shift_Del DEL G G - TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr21:45161607delG uc002zdm.3 + 3 400 c.202delG c.(202-204)GGCfs p.G68fs PDXK_uc010gpj.2_Frame_Shift_Del_p.G68fs|PDXK_uc002zdn.3_Frame_Shift_Del_p.G68fs|PDXK_uc002zdq.3_5'UTR NM_003681 NP_003672 O00764 PDXK_HUMAN pyridoxal kinase 68 cell proliferation|pyridoxal 5'-phosphate salvage cytosol ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding 0 Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18) Pyridoxal(DB00147)|Pyridoxine(DB00165) GTTGTACGAAGGCCTGAGGCT 0.577 NaN NaN NaN NaN NaN NaN 16 27 --- --- FGFRL1 53834 broad.mit.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA CA - TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr4:1019055_1019056delCA uc003gce.2 + 7 1596_1597 c.1435_1436delCA c.(1435-1437)CACfs p.H479fs FGFRL1_uc003gcf.2_Frame_Shift_Del_p.H479fs|FGFRL1_uc003gcg.2_Frame_Shift_Del_p.H479fs|FGFRL1_uc010ibo.2_Frame_Shift_Del_p.H479fs NM_021923 NP_068742 Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 479 His-rich.|Cytoplasmic (Potential). regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0158) cacagacatccacacacacaca 0.46 NaN NaN NaN NaN NaN NaN 3 6 --- --- LUC7L2 51631 broad.mit.edu 37 7 139094364 139094365 + Frame_Shift_Ins INS - - AG TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chr7:139094364_139094365insAG uc003vux.2 + 7 1117_1118 c.743_744insAG c.(742-744)GAAfs p.E248fs LUC7L2_uc011kqs.1_Frame_Shift_Ins_p.E245fs|LUC7L2_uc011kqt.1_Frame_Shift_Ins_p.E314fs|LUC7L2_uc003vuy.2_Frame_Shift_Ins_p.E247fs|LUC7L2_uc003vuz.1_Frame_Shift_Ins_p.E195fs|LUC7L2_uc003vva.2_Frame_Shift_Ins_p.E195fs NM_016019 NP_057103 Q9Y383 LC7L2_HUMAN LUC7-like 2 248 Arg/Ser-rich. enzyme binding|metal ion binding 0 Melanoma(164;0.242) AAACGAAGAGAAGAGAGAGAGA 0.396 NaN NaN NaN NaN NaN NaN 6 11 --- --- SRPX 8406 broad.mit.edu 37 X 38079976 38079978 + In_Frame_Del DEL GCA GCA - rs72249350 TCGA-BT-A20P-01A-11D-A14W-08 TCGA-BT-A20P-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx e6c78a98-f45b-482b-a551-4f11b8c1ff8b dd05d620-285e-4734-924b-c16361749fa4 g.chrX:38079976_38079978delGCA uc004ddy.1 - 1 154_156 c.68_70delTGC c.(67-72)CTGCGC>CGC p.L23del SRPX_uc004ddz.1_In_Frame_Del_p.L23del|SRPX_uc011mkh.1_In_Frame_Del_p.L23del|SRPX_uc011mki.1_In_Frame_Del_p.L23del NM_006307 NP_006298 P78539 SRPX_HUMAN sushi-repeat-containing protein, X-linked 23 Missing. cell adhesion cell surface|membrane 0 GGCGGGACGCgcagcagcagcag 0.576 NaN OREG0019726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NaN NaN NaN NaN NaN 3 5 --- ---