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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut KAZ 23254 broad.mit.edu 37 1 14925658 14925658 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:14925658C>T uc001avm.3 + 1 446 c.165C>T c.(163-165)AGC>AGT p.S55S KAZ_uc009vog.1_Silent_p.S55S|KAZ_uc010obj.1_Silent_p.S55S NM_201628 NP_963922 Q674X7 KAZRN_HUMAN kazrin isoform E 55 keratinization cornified envelope|cytoplasm|desmosome|nucleus 0 ccgcggccagcgcctcggcgg 0.473 NA 3 4 0 0 0 0 IPO13 9670 broad.mit.edu 37 1 44415762 44415762 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:44415762C>T uc001ckx.2 + 2 1553 c.758C>T c.(757-759)TCG>TTG p.S253L NM_014652 NP_055467 O94829 IPO13_HUMAN importin 13 253 HEAT 3. protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CTGCAGGACTCGGAGCTCTTC 0.577 NA 12 27 0 0 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94342345 94342345 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:94342345G>A uc001dqf.2 - 2 1184 c.1146C>T c.(1144-1146)CCC>CCT p.P382P DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Silent_p.P177P NM_014597 NP_055412 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, 382 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) TTGCTTTTATGGGGCTCTTTT 0.398 NA 139 171 0 0 0 0 DDX20 11218 broad.mit.edu 37 1 112309065 112309065 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:112309065C>T uc001ebs.2 + 11 2376 c.2019C>T c.(2017-2019)TAC>TAT p.Y673Y DDX20_uc010owf.1_Silent_p.Y435Y|DDX20_uc001ebt.2_Silent_p.Y281Y NM_007204 NP_009135 Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 673 assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding lung(1)|kidney(1) 2 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATAAGTCATACTTGGAAGGCT 0.453 NA 14 43 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152276170 152276170 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:152276170G>A uc001ezu.1 - 3 11228 c.11192C>T c.(11191-11193)ACT>ATT p.T3731I NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3731 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTTCCTCCAGTACTGGGCCC 0.617 NA Ichthyosis 139 307 0 0 0 0 IVL 3713 broad.mit.edu 37 1 152883939 152883939 + Nonsense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:152883939C>T uc001fau.2 + 2 1712 c.1666C>T c.(1666-1668)CAA>TAA p.Q556* NM_005547 NP_005538 P07476 INVO_HUMAN involucrin 556 isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity ovary(3) 3 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCAAGACATTCAACCAGCCCT 0.388 NA 19 53 0 0 0 0 S100A2 6273 broad.mit.edu 37 1 153533987 153533987 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:153533987C>T uc001fcb.2 - 3 560 c.222G>A c.(220-222)GAG>GAA p.E74E NM_005978 NP_005969 P29034 S10A2_HUMAN S100 calcium binding protein A2 75 EF-hand 2.|2; high affinity (Potential). endothelial cell migration calcium ion binding ovary(1) 1 all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) AAACAGCATACTCCTGGAAGT 0.527 NA 56 149 0 0 0 0 RAB13 5872 broad.mit.edu 37 1 153957221 153957221 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:153957221C>T uc001fdt.1 - 2 255 c.161G>A c.(160-162)GGG>GAG p.G54E RAB13_uc001fdu.1_Missense_Mutation_p.G54E NM_002870 NP_002861 P51153 RAB13_HUMAN RAB13, member RAS oncogene family 54 cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport cytoplasmic vesicle membrane|tight junction GTP binding|GTPase activity 0 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GATCTTCTTCCCCTCTATATC 0.448 NA 4 31 0 0 0 0 OR10J5 127385 broad.mit.edu 37 1 159505792 159505792 + Missense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:159505792C>G uc010piw.1 - 1 6 c.6G>C c.(4-6)AAG>AAC p.K2N NM_001004469 NP_001004469 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, 2 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_hematologic(112;0.0429) AGTTCTTTCTCTTCATTCTGC 0.348 NA 14 32 0 0 0 0 ATP1A2 477 broad.mit.edu 37 1 160109482 160109482 + Missense_Mutation SNP C C A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:160109482C>A uc001fvc.2 + 21 3025 c.2893C>A c.(2893-2895)CTC>ATC p.L965I ATP1A2_uc001fvd.2_Missense_Mutation_p.L684I NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 965 Helical; (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GGCTGCCTTTCTCTCTTACTG 0.582 NA 18 51 6.5e-13 9.46e-13 1 0 RXRG 6258 broad.mit.edu 37 1 165378880 165378880 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:165378880C>T uc001gda.2 - 7 1261 c.961G>A c.(961-963)GTG>ATG p.V321M NM_006917 NP_008848 P48443 RXRG_HUMAN retinoid X receptor, gamma isoform a 321 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) CCATCCTGCACGGAAACTGAG 0.517 NA 8 21 0 0 0 0 PTPRC 5788 broad.mit.edu 37 1 198685828 198685828 + Missense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:198685828C>G uc001gur.1 + 13 1483 c.1303C>G c.(1303-1305)CTG>GTG p.L435V PTPRC_uc001gus.1_Missense_Mutation_p.L387V|PTPRC_uc001gut.1_Missense_Mutation_p.L274V|PTPRC_uc009wzf.1_Missense_Mutation_p.L323V|PTPRC_uc010ppg.1_Missense_Mutation_p.L371V NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 435 Extracellular (Potential).|Fibronectin type-III 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 TTGCCTCAATCTGGATAAAAA 0.303 NA 12 54 0 0 0 0 DUSP10 11221 broad.mit.edu 37 1 221913036 221913036 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:221913036G>A uc001hmy.1 - 2 233 c.51C>T c.(49-51)CCC>CCT p.P17P DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron NM_007207 NP_009138 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 isoform a 17 inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1)|lung(1) 2 GBM - Glioblastoma multiforme(131;0.0103) GAGGTCGGACGGGCCTAGATA 0.517 NA 33 76 0 0 0 0 KIAA1383 54627 broad.mit.edu 37 1 232941709 232941709 + Missense_Mutation SNP A A G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr1:232941709A>G uc001hvh.2 + 1 1072 c.940A>G c.(940-942)ACT>GCT p.T314A NM_019090 NP_061963 Q9P2G4 K1383_HUMAN hypothetical protein LOC54627 172 ovary(1) 1 all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169) GGGCGAGCGGACTGGGGACAT 0.692 NA 10 17 0 0 0 0 LYZL2 119180 broad.mit.edu 37 10 30900884 30900884 + Nonstop_Mutation SNP T T A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr10:30900884T>A uc001ivk.2 - 5 598 c.585A>T c.(583-585)TAA>TAT p.*195Y NM_183058 NP_898881 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 195 cell wall macromolecule catabolic process extracellular region lysozyme activity 0 Prostate(175;0.151) CAGTTCCAGTTTAGGAAACCT 0.517 NA 81 156 0 0 0 0 ZNF438 220929 broad.mit.edu 37 10 31139092 31139092 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr10:31139092G>A uc010qdz.1 - 7 677 c.242C>T c.(241-243)GCC>GTC p.A81V ZNF438_uc001ivn.2_Missense_Mutation_p.A32V|ZNF438_uc010qdy.1_Missense_Mutation_p.A71V|ZNF438_uc001ivo.3_Intron|ZNF438_uc009xlg.2_Missense_Mutation_p.A81V|ZNF438_uc001ivp.3_Missense_Mutation_p.A71V|ZNF438_uc010qea.1_Missense_Mutation_p.A81V|ZNF438_uc010qeb.1_Missense_Mutation_p.A81V|ZNF438_uc010qec.1_Intron NM_182755 NP_877432 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 isoform a 81 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 Prostate(175;0.0587) CTGCATCAGGGCATAGTTCTG 0.532 NA 4 116 0 0 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508040 37508040 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr10:37508040G>A uc001iza.1 + 34 3331 c.3232G>A c.(3232-3234)GAG>AAG p.E1078K NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1134 Potential. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 TAAATACTTTGAGGACATTAA 0.338 NA 48 88 0 0 0 0 CYP2C8 1558 broad.mit.edu 37 10 96818118 96818118 + Missense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr10:96818118C>G uc001kkb.2 - 5 888 c.793G>C c.(793-795)GAT>CAT p.D265H CYP2C8_uc001kkc.2_RNA|CYP2C8_uc010qoa.1_Missense_Mutation_p.D195H|CYP2C8_uc010qob.1_Missense_Mutation_p.D179H|CYP2C8_uc010qoc.1_Missense_Mutation_p.D163H|CYP2C8_uc010qod.1_Missense_Mutation_p.D179H NM_000770 NP_000761 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, 265 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding 0 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) AGGAAGCAATCGATAAAGTCC 0.358 NA 4 58 0 0 0 0 SLIT1 6585 broad.mit.edu 37 10 98770859 98770859 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr10:98770859C>T uc001kmw.2 - 31 3484 c.3232G>A c.(3232-3234)GAC>AAC p.D1078N NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor 1078 EGF-like 4. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding ovary(4) 4 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CTGCAGTTGTCACCTGCATAA 0.607 NA 5 34 0 0 0 0 CCDC147 159686 broad.mit.edu 37 10 106113661 106113661 + Silent SNP T T A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr10:106113661T>A uc001kyh.2 + 1 140 c.6T>A c.(4-6)GCT>GCA p.A2A NM_001008723 NP_001008723 Q5T655 CC147_HUMAN coiled-coil domain containing 147 2 ovary(2)|central_nervous_system(2)|skin(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) TCAGGATGGCTGAGGTCAGGA 0.597 NA OREG0020519 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 32 0 0 0 0 TACC2 10579 broad.mit.edu 37 10 123845099 123845099 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr10:123845099G>C uc001lfv.2 + 4 3444 c.3084G>C c.(3082-3084)TGG>TGC p.W1028C TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.W1028C|TACC2_uc010qtv.1_Missense_Mutation_p.W1028C NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 1028 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CCCCACTCTGGGGCTTGAGTA 0.562 NA 12 41 0 0 0 0 FAM53B 9679 broad.mit.edu 37 10 126311927 126311927 + Missense_Mutation SNP C C T rs140442850 byFrequency TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr10:126311927C>T uc001lhv.1 - 5 1676 c.1153G>A c.(1153-1155)GAG>AAG p.E385K FAM53B_uc001lhu.1_Intron NM_014661 NP_055476 Q14153 FA53B_HUMAN hypothetical protein LOC9679 385 ovary(1)|pancreas(1) 2 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) CCACAATCCTCGTCCAGGGCG 0.682 NA 7 25 0 0 0 0 SIRT3 23410 broad.mit.edu 37 11 233115 233115 + Missense_Mutation SNP A A G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr11:233115A>G uc001lok.3 - 3 608 c.574T>C c.(574-576)TTT>CTT p.F192L SIRT3_uc001loj.3_Missense_Mutation_p.F50L|SIRT3_uc010qvm.1_Missense_Mutation_p.F128L|SIRT3_uc010qvn.1_Missense_Mutation_p.F111L|SIRT3_uc010qvo.1_Missense_Mutation_p.F192L|SIRT3_uc010qvp.1_Missense_Mutation_p.F192L|SIRT3_uc010qvq.1_Missense_Mutation_p.F50L|SIRT3_uc009ybt.1_RNA NM_012239 NP_036371 Q9NTG7 SIRT3_HUMAN sirtuin 3 isoform a 192 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding urinary_tract(1) 1 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129) AAAGTGAAAAAGGGCTTGGGG 0.547 NA 3 61 0 0 0 0 MUC5B 727897 broad.mit.edu 37 11 1271273 1271273 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr11:1271273C>T uc009ycr.1 + 51 14708 c.14582C>T c.(14581-14583)ACG>ATG p.T4861M MUC5B_uc001ltb.2_Missense_Mutation_p.T4391M NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 4388 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACTCCGGGGACGACCTGGATC 0.662 NA 55 129 0 0 0 0 OR52H1 390067 broad.mit.edu 37 11 5566547 5566547 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr11:5566547G>C uc010qzh.1 - 1 207 c.207C>G c.(205-207)TTC>TTG p.F69L HBG2_uc001mak.1_Intron NM_001005289 NP_001005289 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, 69 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGAGAGAAAGAAGAACATGG 0.473 NA 19 55 0 0 0 0 OR10A2 341276 broad.mit.edu 37 11 6891450 6891450 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr11:6891450C>T uc001meu.1 + 1 465 c.465C>T c.(463-465)TTC>TTT p.F155F NM_001004460 NP_001004460 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, 155 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GTTTTCCATTCTGTGGCACCA 0.537 NA 33 114 0 0 0 0 SLC1A2 6506 broad.mit.edu 37 11 35308446 35308446 + Missense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr11:35308446C>G uc001mwd.2 - 8 1736 c.1144G>C c.(1144-1146)GAT>CAT p.D382H SLC1A2_uc001mwe.2_Missense_Mutation_p.D373H|SLC1A2_uc010rev.1_Missense_Mutation_p.D382H 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 NA 39 124 0 0 0 0 MS4A2 2206 broad.mit.edu 37 11 59857261 59857261 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr11:59857261G>A uc001nop.2 + 2 255 c.153G>A c.(151-153)CTG>CTA p.L51L MS4A2_uc009ymu.2_Silent_p.L51L NM_000139 NP_000130 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 51 Cytoplasmic (Potential). cell proliferation|humoral immune response integral to plasma membrane calcium channel activity ovary(1) 1 all_epithelial(135;0.245) Omalizumab(DB00043) ATACATGGCTGACAGTTTTGA 0.468 NA 23 44 0 0 0 0 C11orf51 25906 broad.mit.edu 37 11 71822259 71822259 + Silent SNP G G T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr11:71822259G>T uc001orw.2 - 3 286 c.64C>A c.(64-66)CGA>AGA p.R22R C11orf51_uc009ytc.1_Intron|C11orf51_uc001orv.2_Silent_p.R22R NM_014042 NP_054761 P60006 CK051_HUMAN hypothetical protein LOC25906 22 intracellular 0 ACACAGGGTCGATCCAGATTA 0.542 NA 37 67 2.42e-17 3.55e-17 1 0 CCDC83 220047 broad.mit.edu 37 11 85597249 85597249 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr11:85597249G>A uc001pbh.1 + 5 862 c.350G>A c.(349-351)CGC>CAC p.R117H CCDC83_uc001pbg.1_Missense_Mutation_p.R117H|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Intron NM_173556 NP_775827 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 117 Potential. skin(1) 1 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) ACAGATATGCGCATGCAAATA 0.333 NA 6 15 0 0 0 0 GPR83 10888 broad.mit.edu 37 11 94134045 94134045 + Silent SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr11:94134045G>C uc001pet.2 - 1 541 c.369C>G c.(367-369)CTC>CTG p.L123L NM_016540 NP_057624 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 precursor 123 Helical; Name=2; (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity central_nervous_system(2)|ovary(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) AGGGGGTGTTGAGCAGCGTGA 0.438 NA 12 28 0 0 0 0 ROBO3 64221 broad.mit.edu 37 11 124750348 124750348 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr11:124750348C>T uc001qbc.2 + 27 4185 c.3993C>T c.(3991-3993)TTC>TTT p.F1331F ROBO3_uc001qbd.2_Silent_p.F256F|ROBO3_uc010sar.1_Silent_p.F380F|ROBO3_uc001qbe.2_Silent_p.F256F|ROBO3_uc001qbf.1_Silent_p.F215F NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 1331 Cytoplasmic (Potential). axon midline choice point recognition integral to membrane receptor activity breast(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) GACCAAGCTTCCTGTCCCGGG 0.622 NA 10 17 0 0 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128838895 128838895 + Missense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr11:128838895C>G uc009zcp.2 - 22 6171 c.6171G>C c.(6169-6171)CAG>CAC p.Q2057H ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.Q1016H|ARHGAP32_uc001qez.2_Missense_Mutation_p.Q1708H NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 2057 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 AGGTCCTGCTCTGTGGATGGG 0.587 NA 7 25 0 0 0 0 IGSF9B 22997 broad.mit.edu 37 11 133792107 133792107 + Silent SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr11:133792107G>C uc001qgx.3 - 17 2523 c.2292C>G c.(2290-2292)CTC>CTG p.L764L NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 764 Cytoplasmic (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GGGTGATGGAGAGTGGAGGGT 0.602 NA 4 16 0 0 0 0 CCND2 894 broad.mit.edu 37 12 4409145 4409145 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr12:4409145C>T uc001qmo.2 + 5 1145 c.840C>T c.(838-840)ACC>ACT p.T280T NM_001759 NP_001750 P30279 CCND2_HUMAN cyclin D2 280 cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1) 3 all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206) AAGCCAGCACCCCTACAGACG 0.547 NA T IGL@ NHL,CLL 3 29 0 0 0 0 GRIN2B 2904 broad.mit.edu 37 12 13722780 13722780 + Silent SNP C C A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr12:13722780C>A uc001rbt.2 - 11 2522 c.2343G>T c.(2341-2343)CTG>CTT p.L781L NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 781 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CAAAGAGCTGCAGGATAGCAA 0.488 NA 18 46 1.34e-09 1.92e-09 1 0 TBX5 6910 broad.mit.edu 37 12 114804166 114804166 + Silent SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr12:114804166G>C uc001tvo.2 - 8 1281 c.786C>G c.(784-786)ACC>ACG p.T262T TBX5_uc001tvp.2_Silent_p.T262T|TBX5_uc001tvq.2_Silent_p.T212T|TBX5_uc010syv.1_Silent_p.T262T NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 262 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TTTGCCTCACGGTGCTCCTGG 0.512 NA 4 88 0 0 0 0 RNF10 9921 broad.mit.edu 37 12 120972767 120972767 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr12:120972767G>C uc001typ.3 + 1 636 c.153G>C c.(151-153)AAG>AAC p.K51N RNF10_uc010szk.1_RNA NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN ring finger protein 10 51 Ser-rich. negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTAAACCCAAGAGCGGTAAGG 0.701 NA 8 26 0 0 0 0 ORAI1 84876 broad.mit.edu 37 12 122079382 122079382 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr12:122079382G>A uc010szz.1 + 3 932 c.739G>A c.(739-741)GGC>AGC p.G247S NM_032790 NP_116179 Q96D31 CRCM1_HUMAN calcium release-activated calcium channel 247 Helical; (Potential). platelet activation|positive regulation of calcium ion transport integral to plasma membrane protein binding|store-operated calcium channel activity 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148) GGTGCCCTTCGGCCTGATCTT 0.627 NA 28 56 0 0 0 0 MYCBP2 23077 broad.mit.edu 37 13 77715011 77715011 + Silent SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr13:77715011G>C uc001vkf.2 - 51 7348 c.7257C>G c.(7255-7257)GTC>GTG p.V2419V MYCBP2_uc010aev.2_Silent_p.V1823V NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 2419 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ACTTTGGTTTGACCAACTGAG 0.408 NA 66 179 0 0 0 0 OR4K2 390431 broad.mit.edu 37 14 20345329 20345329 + Silent SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr14:20345329G>C uc001vwh.1 + 1 903 c.903G>C c.(901-903)CTG>CTC p.L301L NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, 301 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGAGGAAACTGAAAAATAGGT 0.348 NA 20 20 0 0 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36097115 36097115 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr14:36097115C>T uc001wti.2 - 33 4911 c.4520G>A c.(4519-4521)CGC>CAC p.R1507H RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.R1507H|RALGAPA1_uc010tpv.1_Missense_Mutation_p.R1520H|RALGAPA1_uc010tpw.1_Missense_Mutation_p.R1554H NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 1507 Minimal domain that binds to TCF3/E12 (By similarity). activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 AATAACAGTGCGGGCTGCTAT 0.398 NA 45 35 0 0 0 0 TJP1 7082 broad.mit.edu 37 15 30011032 30011032 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr15:30011032G>C uc001zcr.2 - 21 3789 c.3314C>G c.(3313-3315)CCT>CGT p.P1105R TJP1_uc010azl.2_Missense_Mutation_p.P1093R|TJP1_uc001zcq.2_Missense_Mutation_p.P1029R|TJP1_uc001zcs.2_Missense_Mutation_p.P1025R NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 1105 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) ATTATCAAAAGGTGGCCGAGA 0.493 NA 4 162 0 0 0 0 EHD4 30844 broad.mit.edu 37 15 42192864 42192864 + Missense_Mutation SNP C C A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr15:42192864C>A uc001zot.2 - 6 1668 c.1605G>T c.(1603-1605)AAG>AAT p.K535N NM_139265 NP_644670 Q9H223 EHD4_HUMAN EH-domain containing 4 535 EH. endocytic recycling|protein homooligomerization early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding ovary(2) 2 all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538) TGGGCAGGGACTTCCTGTGCG 0.453 NA 11 10 3.86e-05 5.35e-05 1 0 SH3GL3 6457 broad.mit.edu 37 15 84286874 84286874 + Silent SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr15:84286874C>G uc002bjw.2 + 9 1074 c.879C>G c.(877-879)CTC>CTG p.L293L SH3GL3_uc002bjx.2_Silent_p.L224L|SH3GL3_uc002bju.2_Silent_p.L301L|SH3GL3_uc002bjv.2_RNA NM_003027 NP_003018 Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 293 SH3. central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding pancreas(1)|central_nervous_system(1)|skin(1) 3 GTCGTGGTCTCTATGACTTTG 0.398 NA 20 49 0 0 0 0 PDE8A 5151 broad.mit.edu 37 15 85669605 85669605 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr15:85669605G>A uc002blh.2 + 20 2442 c.2253G>A c.(2251-2253)CAG>CAA p.Q751Q PDE8A_uc002bli.2_Silent_p.Q705Q|PDE8A_uc010bnc.2_Silent_p.Q504Q|PDE8A_uc010bnd.2_Silent_p.Q504Q|PDE8A_uc002blj.2_Silent_p.Q371Q|PDE8A_uc002blk.2_Silent_p.Q371Q|PDE8A_uc002bll.2_Silent_p.Q103Q NM_002605 NP_002596 O60658 PDE8A_HUMAN phosphodiesterase 8A isoform 1 751 Catalytic (By similarity). cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(223;0.227) BRCA - Breast invasive adenocarcinoma(143;0.0608) ATTTTTCTCAGGTAAGTTGCT 0.413 NA 18 58 0 0 0 0 AGBL1 123624 broad.mit.edu 37 15 86687068 86687068 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr15:86687068G>A uc002blz.1 + 2 196 c.116G>A c.(115-117)GGC>GAC p.G39D NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 39 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 GCCAAAGTTGGCCTAAGAGGT 0.522 NA 17 39 0 0 0 0 C15orf42 90381 broad.mit.edu 37 15 90143870 90143870 + Nonsense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr15:90143870C>T uc002boe.2 + 9 2107 c.2107C>T c.(2107-2109)CGA>TGA p.R703* NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 703 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) TAAAAGTCTTCGACAGAATCT 0.303 NA 6 19 0 0 0 0 PDIA2 64714 broad.mit.edu 37 16 335330 335330 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr16:335330G>A uc002cgn.1 + 11 1922 c.814G>A c.(814-816)GCG>ACG p.A272T PDIA2_uc010bqt.1_Missense_Mutation_p.A117T|PDIA2_uc002cgo.1_Missense_Mutation_p.A272T NM_006849 NP_006840 Q13087 PDIA2_HUMAN protein disulfide isomerase A2 precursor 272 apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding central_nervous_system(1)|skin(1) 2 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) CAAGATCTTCGCGGCCAGGAT 0.642 NA 11 40 0 0 0 0 FBXL16 146330 broad.mit.edu 37 16 745785 745785 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr16:745785C>T uc002cjc.2 - 4 975 c.772G>A c.(772-774)GAC>AAC p.D258N FBXL16_uc002cja.2_5'Flank|FBXL16_uc002cjb.2_Missense_Mutation_p.D46N NM_153350 NP_699181 Q8N461 FXL16_HUMAN F-box and leucine-rich repeat protein 16 258 LRR 1. 0 Hepatocellular(780;0.0218) GCGATGGCGTCGTCGGCCACG 0.687 NA 20 30 0 0 0 0 SH2B1 25970 broad.mit.edu 37 16 28883683 28883683 + Silent SNP T T G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr16:28883683T>G uc002dri.2 + 9 2125 c.1686T>G c.(1684-1686)GGT>GGG p.G562G uc010vct.1_Intron|SH2B1_uc010vdc.1_Silent_p.G252G|SH2B1_uc002drj.2_Silent_p.G562G|SH2B1_uc002drk.2_Silent_p.G562G|SH2B1_uc002drl.2_Silent_p.G562G|SH2B1_uc010vdd.1_Silent_p.G226G|SH2B1_uc010vde.1_Silent_p.G562G|SH2B1_uc002drm.2_Silent_p.G562G NM_001145795 NP_001139267 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 isoform 1 562 SH2. blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity ovary(2) 2 CAAGGCGGGGTGAATACGTCC 0.612 NA 4 60 0 0 0 0 ATP2A1 487 broad.mit.edu 37 16 28906160 28906160 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr16:28906160G>A uc002dro.1 + 12 1489 c.1305G>A c.(1303-1305)GAG>GAA p.E435E uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.E435E|ATP2A1_uc002drp.1_Silent_p.E310E NM_173201 NP_775293 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, fast twitch 1 isoform 435 Cytoplasmic (By similarity). apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GTGTCTATGAGAAGGTCGGCG 0.567 NA 17 41 0 0 0 0 ZNF668 79759 broad.mit.edu 37 16 31073297 31073297 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr16:31073297G>A uc010caf.2 - 3 1309 c.952C>T c.(952-954)CGG>TGG p.R318W ZNF668_uc002eao.2_Missense_Mutation_p.R318W NM_024706 NP_078982 Q96K58 ZN668_HUMAN zinc finger protein 668 318 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4) 4 GCCGGCTGCCGGAAGTCCTTG 0.662 NA 10 34 0 0 0 0 TMCO7 79613 broad.mit.edu 37 16 69007962 69007962 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr16:69007962G>C uc002ewi.3 + 15 2745 c.2733G>C c.(2731-2733)GAG>GAC p.E911D NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN transmembrane and coiled-coil domains 7 911 integral to membrane binding 0 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) TCTATCCTGAGAAAATCTTGC 0.458 NA 11 23 0 0 0 0 MTHFSD 64779 broad.mit.edu 37 16 86580199 86580199 + Silent SNP T T C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr16:86580199T>C uc002fjn.2 - 5 459 c.408A>G c.(406-408)TTA>TTG p.L136L MTHFSD_uc010voo.1_Silent_p.L116L|MTHFSD_uc002fjo.2_5'UTR|MTHFSD_uc002fjm.2_Silent_p.L135L|MTHFSD_uc010vop.1_5'UTR|MTHFSD_uc010voq.1_Silent_p.L135L|MTHFSD_uc010vor.1_Silent_p.L136L|MTHFSD_uc002fjp.2_Silent_p.L116L NM_001159377 NP_001152849 Q2M296 MTHSD_HUMAN methenyltetrahydrofolate synthetase domain 136 folic acid-containing compound biosynthetic process 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding 0 CCACCACAACTAAATCCACGA 0.537 NA 3 101 0 0 0 0 TRPV1 7442 broad.mit.edu 37 17 3475479 3475479 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:3475479G>A uc010vrr.1 - 13 2695 c.2168C>T c.(2167-2169)TCA>TTA p.S723L TRPV1_uc010vro.1_Missense_Mutation_p.S734L|TRPV1_uc010vrp.1_Missense_Mutation_p.S663L|TRPV1_uc010vrq.1_Missense_Mutation_p.S721L|TRPV1_uc010vrs.1_Missense_Mutation_p.S723L|TRPV1_uc010vrt.1_Missense_Mutation_p.S723L|TRPV1_uc010vru.1_Missense_Mutation_p.S723L NM_080706 NP_542437 Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, 723 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding ovary(1) 1 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) CAGCTTGCCTGAGCGGAAGGC 0.592 NA 7 22 0 0 0 0 RNF167 26001 broad.mit.edu 37 17 4847869 4847869 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:4847869C>T uc002fzq.2 + 10 1103 c.687C>T c.(685-687)GTC>GTT p.V229V RNF167_uc002fzr.2_Silent_p.V229V|RNF167_uc002fzs.2_Silent_p.V229V|RNF167_uc002fzt.2_Silent_p.V229V|RNF167_uc002fzu.2_Silent_p.V228V|RNF167_uc002fzv.2_Silent_p.V194V|RNF167_uc002fzx.2_Silent_p.V193V|RNF167_uc002fzy.2_Missense_Mutation_p.S3F NM_015528 NP_056343 Q9H6Y7 RN167_HUMAN ring finger protein 167 precursor 229 negative regulation of cell cycle|protein polyubiquitination cytoplasm|endomembrane system|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 AGTATGATGTCTGTGCCATTT 0.517 NA 20 84 0 0 0 0 USP6 9098 broad.mit.edu 37 17 5048764 5048764 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:5048764G>A uc002gau.1 + 27 4287 c.2057G>A c.(2056-2058)AGA>AAA p.R686K USP6_uc002gav.1_Missense_Mutation_p.R686K|USP6_uc010ckz.1_Missense_Mutation_p.R369K NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 686 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 GGGCAGCTAAGATCTCAAGTC 0.373 NA T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts 19 47 0 0 0 0 LLGL1 3996 broad.mit.edu 37 17 18144788 18144788 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:18144788C>T uc002gsp.2 + 18 2587 c.2526C>T c.(2524-2526)AGC>AGT p.S842S NM_004140 NP_004131 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 842 WD 12. cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1) 6 all_neural(463;0.228) CCAAGGTGAGCGCGAAGACCA 0.632 NA 11 29 0 0 0 0 SHMT1 6470 broad.mit.edu 37 17 18244076 18244076 + Missense_Mutation SNP G G A rs148701087 byFrequency TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:18244076G>A uc002gta.2 - 6 761 c.571C>T c.(571-573)CGC>TGC p.R191C SHMT1_uc002gsz.2_Translation_Start_Site|SHMT1_uc002gtb.2_Missense_Mutation_p.R191C|SHMT1_uc010cqb.2_Missense_Mutation_p.R191C|SHMT1_uc010vxt.1_Missense_Mutation_p.R53C|SHMT1_uc002gtd.1_Missense_Mutation_p.R191C|SHMT1_uc010vxu.1_Missense_Mutation_p.R191C NM_004169 NP_004160 P34896 GLYC_HUMAN serine hydroxymethyltransferase 1 (soluble) 191 carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process cytosol|nucleus glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding ovary(1) 1 Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) TGGAAGAGGCGTGCGTTCTCC 0.557 NA 5 12 0 0 0 0 MED1 5469 broad.mit.edu 37 17 37576168 37576168 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:37576168G>C uc002hrv.3 - 14 1311 c.1099C>G c.(1099-1101)CTT>GTT p.L367V MED1_uc010wee.1_Missense_Mutation_p.L195V|MED1_uc002hru.2_Missense_Mutation_p.L367V NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 367 Interaction with ESR1.|Interaction with the Mediator complex.|Interaction with the Mediator complex and THRA. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) TGACCAGGAAGAGCCTGGGCA 0.433 NA HNSCC(31;0.082) 23 36 0 0 0 0 SMARCE1 6605 broad.mit.edu 37 17 38785063 38785063 + Missense_Mutation SNP T T C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:38785063T>C uc002hux.2 - 11 1334 c.1210A>G c.(1210-1212)ATA>GTA p.I404V SMARCE1_uc010wff.1_3'UTR|SMARCE1_uc010wfg.1_3'UTR|SMARCE1_uc002huy.2_Missense_Mutation_p.I369V|SMARCE1_uc010wfh.1_Missense_Mutation_p.I334V|SMARCE1_uc010wfi.1_Missense_Mutation_p.I386V NM_003079 NP_003070 Q969G3 SMCE1_HUMAN SWI/SNF-related matrix-associated 404 Glu-rich. chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity 0 Breast(137;0.000812) TCTTCTGGTATGGGATCTGTT 0.418 NA 64 131 0 0 0 0 FZD2 2535 broad.mit.edu 37 17 42635585 42635585 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:42635585G>A uc002igx.1 + 1 661 c.529G>A c.(529-531)GGG>AGG p.G177R NM_001466 NP_001457 Q14332 FZD2_HUMAN frizzled 2 precursor 177 Extracellular (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) gccgggtgccgggggcacccc 0.418 NA 5 13 0 0 0 0 KIAA1267 284058 broad.mit.edu 37 17 44248386 44248386 + Nonsense_Mutation SNP G G C rs142696045 byFrequency TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:44248386G>C uc002ikb.2 - 1 1209 c.1124C>G c.(1123-1125)TCA>TGA p.S375* KIAA1267_uc002ikc.2_Nonsense_Mutation_p.S375*|KIAA1267_uc002ikd.2_Nonsense_Mutation_p.S375*|KIAA1267_uc010dav.2_Nonsense_Mutation_p.S375* NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 375 MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) TTCTGAAATTGAATTGCTTTT 0.453 NA 23 121 0 0 0 0 DGKE 8526 broad.mit.edu 37 17 54940147 54940147 + Nonsense_Mutation SNP G G T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:54940147G>T uc002iur.2 + 12 1879 c.1699G>T c.(1699-1701)GAA>TAA p.E567* DGKE_uc002ius.1_3'UTR NM_003647 NP_003638 P52429 DGKE_HUMAN diacylglycerol kinase epsilon 567 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(2) 2 Breast(9;3.59e-07) AAAGGCGACTGAATAGATGGA 0.358 NA 10 17 2.18e-05 3.04e-05 1 0 ITGB4 3691 broad.mit.edu 37 17 73751885 73751885 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:73751885G>A uc002jpg.2 + 35 4849 c.4662G>A c.(4660-4662)GAG>GAA p.E1554E ITGB4_uc002jph.2_Silent_p.E1484E|ITGB4_uc002jpi.3_Silent_p.E1484E|ITGB4_uc002jpj.2_Silent_p.E1537E|GALK1_uc010wsi.1_Intron NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 1554 Cytoplasmic (Potential).|Fibronectin type-III 3. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CGCGGTGCGAGCGGCCGCTGC 0.701 NA 11 25 0 0 0 0 PQLC1 80148 broad.mit.edu 37 18 77710917 77710917 + Missense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr18:77710917C>G uc002lnl.2 - 2 182 c.10G>C c.(10-12)GAG>CAG p.E4Q PQLC1_uc010dre.2_5'UTR|PQLC1_uc002lnk.2_Missense_Mutation_p.E4Q|PQLC1_uc010xfm.1_Missense_Mutation_p.E4Q NM_025078 NP_079354 Q8N2U9 PQLC1_HUMAN PQ loop repeat containing 1 isoform 1 4 integral to membrane large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0212)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258) TCCAGGCCCTCGGCCTCCATC 0.766 NA 3 6 0 0 0 0 ZNRF4 148066 broad.mit.edu 37 19 5456154 5456154 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr19:5456154G>A uc002mca.3 + 1 729 c.652G>A c.(652-654)GCC>ACC p.A218T NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 precursor 218 Extracellular (Potential).|PA. integral to membrane zinc ion binding large_intestine(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) GAGCGAGGCCGCCTCGCAGGA 0.672 NA 34 74 0 0 0 0 SMARCA4 6597 broad.mit.edu 37 19 11132522 11132522 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr19:11132522C>T uc002mqf.3 + 19 3022 c.2738C>T c.(2737-2739)CCG>CTG p.P913L SMARCA4_uc010dxp.2_Missense_Mutation_p.P913L|SMARCA4_uc010dxo.2_Missense_Mutation_p.P913L|SMARCA4_uc002mqg.1_Missense_Mutation_p.P913L|SMARCA4_uc010dxq.2_Missense_Mutation_p.P913L|SMARCA4_uc010dxr.2_Missense_Mutation_p.P913L|SMARCA4_uc002mqj.3_Missense_Mutation_p.P913L|SMARCA4_uc010dxs.2_Missense_Mutation_p.P913L|SMARCA4_uc010dxt.1_Missense_Mutation_p.P133L|SMARCA4_uc002mqh.3_Missense_Mutation_p.P36L|SMARCA4_uc002mqi.1_Missense_Mutation_p.P116L NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 913 Helicase ATP-binding. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) ACGGGCACACCGCTGCAGAAC 0.612 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 12 44 0 0 0 0 NOTCH3 4854 broad.mit.edu 37 19 15290215 15290215 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr19:15290215G>A uc002nan.2 - 21 3496 c.3420C>T c.(3418-3420)CTC>CTT p.L1140L NOTCH3_uc002nao.1_Silent_p.L1088L NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 1140 Extracellular (Potential).|EGF-like 29; calcium-binding (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) AGCGGGCCACGAGGTCAATGC 0.602 NA 12 37 0 0 0 0 CEACAM6 4680 broad.mit.edu 37 19 42260628 42260628 + Missense_Mutation SNP G G A rs145319104 TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr19:42260628G>A uc002orm.2 + 2 334 c.185G>A c.(184-186)CGT>CAT p.R62H NM_002483 NP_002474 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion 62 Ig-like V-type. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) CCCCAGAATCGTATTGGTTAC 0.512 NA 6 189 0 0 0 0 RUVBL2 10856 broad.mit.edu 37 19 49507659 49507659 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr19:49507659G>C uc002plr.1 + 4 262 c.249G>C c.(247-249)AAG>AAC p.K83N RUVBL2_uc002plq.1_Missense_Mutation_p.K38N|RUVBL2_uc010yab.1_Missense_Mutation_p.K83N|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Missense_Mutation_p.K38N|RUVBL2_uc010yac.1_Missense_Mutation_p.K38N NM_006666 NP_006657 Q9Y230 RUVB2_HUMAN RuvB-like 2 83 ATP. cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding 0 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) GCACGGGGAAGACGGCCATCG 0.537 NA 14 60 0 0 0 0 PRR12 57479 broad.mit.edu 37 19 50098966 50098966 + Silent SNP G G T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr19:50098966G>T uc002poo.3 + 4 1374 c.1374G>T c.(1372-1374)GGG>GGT p.G458G NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 207 Pro-rich. DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) AGGCCTACGGGCAAGGGTTTG 0.711 NA 7 20 0.00198382 0.00270109 1 0 MYBPC2 4606 broad.mit.edu 37 19 50958903 50958903 + Splice_Site SNP T T C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr19:50958903T>C uc002psf.2 + 20 2389 c.2338_splice c.e20+2 p.S780_splice NM_004533 NP_004524 Q14324 MYPC2_HUMAN myosin binding protein C, fast type cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) TGGAAGGCTGTGAGTGACCCT 0.602 NA 31 46 0 0 0 0 C2orf44 80304 broad.mit.edu 37 2 24261267 24261267 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr2:24261267G>C uc002rep.2 - 2 1229 c.1098C>G c.(1096-1098)ATC>ATG p.I366M C2orf44_uc010eya.2_Missense_Mutation_p.I366M NM_025203 NP_079479 Q9H6R7 CB044_HUMAN hypothetical protein LOC80304 isoform 1 366 protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGACAGAGTAGATCAAAATTA 0.393 NA 20 65 0 0 0 0 C2orf44 80304 broad.mit.edu 37 2 24261335 24261335 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr2:24261335G>A uc002rep.2 - 2 1161 c.1030C>T c.(1030-1032)CTG>TTG p.L344L C2orf44_uc010eya.2_Silent_p.L344L NM_025203 NP_079479 Q9H6R7 CB044_HUMAN hypothetical protein LOC80304 isoform 1 344 protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AATGCTATCAGATCAGGAACC 0.413 NA 16 44 0 0 0 0 C2orf44 80304 broad.mit.edu 37 2 24261747 24261747 + Silent SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr2:24261747G>C uc002rep.2 - 2 749 c.618C>G c.(616-618)GTC>GTG p.V206V C2orf44_uc010eya.2_Silent_p.V206V NM_025203 NP_079479 Q9H6R7 CB044_HUMAN hypothetical protein LOC80304 isoform 1 206 protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGATGGAGCAGACGTGGCTGT 0.488 NA 15 47 0 0 0 0 ALK 238 broad.mit.edu 37 2 29443686 29443686 + Missense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr2:29443686C>G uc002rmy.2 - 23 4438 c.3531G>C c.(3529-3531)CAG>CAC p.Q1177H ALK_uc010ymo.1_Missense_Mutation_p.Q109H NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 1177 Protein kinase.|Cytoplasmic (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GAACAATGTTCTGGTGGTTGA 0.517 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 13 28 0 0 0 0 SMEK2 57223 broad.mit.edu 37 2 55812192 55812192 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr2:55812192C>T uc002rzc.2 - 7 1603 c.1228G>A c.(1228-1230)GAT>AAT p.D410N SMEK2_uc002rzb.2_Missense_Mutation_p.D410N|SMEK2_uc002rzd.2_Missense_Mutation_p.D410N|SMEK2_uc002rza.2_Missense_Mutation_p.D286N NM_001122964 NP_001116436 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 isoform 1 410 microtubule organizing center|nucleus protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CTTACGTCATCACTCTGCTGA 0.348 NA 15 48 0 0 0 0 TMEM131 23505 broad.mit.edu 37 2 98408979 98408979 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr2:98408979C>T uc002syh.3 - 31 4243 c.4014G>A c.(4012-4014)GCG>GCA p.A1338A NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 1338 integral to membrane ovary(4)|central_nervous_system(2) 6 AACTGTGCCTCGCGCTGCTGG 0.622 NA 5 22 0 0 0 0 COL5A2 1290 broad.mit.edu 37 2 189953461 189953461 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr2:189953461G>C uc002uqk.2 - 8 880 c.605C>G c.(604-606)TCT>TGT p.S202C COL5A2_uc010frx.2_5'Flank NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 202 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCCAAGTCCAGATTTTTCATC 0.353 NA 18 49 0 0 0 0 SP140 11262 broad.mit.edu 37 2 231112687 231112687 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr2:231112687G>A uc002vql.2 + 8 914 c.799G>A c.(799-801)GAG>AAG p.E267K SP140_uc010zma.1_Intron|SP140_uc002vqk.2_Missense_Mutation_p.E267K|SP140_uc002vqn.2_Intron|SP140_uc002vqm.2_Missense_Mutation_p.E241K|SP140_uc010fxl.2_Missense_Mutation_p.E267K NM_007237 NP_009168 Q13342 LY10_HUMAN SP140 nuclear body protein isoform 1 267 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGCACCAGGGGAGAAACAGGG 0.473 NA 46 38 0 0 0 0 GGTLC1 92086 broad.mit.edu 37 20 23966391 23966391 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr20:23966391G>A uc002wts.2 - 5 577 c.444C>T c.(442-444)GGC>GGT p.G148G GGTLC1_uc002wtu.2_Silent_p.G148G NM_178312 NP_842564 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 148 gamma-glutamyltransferase activity ovary(1) 1 TCACGTCATAGCCGAACCAGA 0.612 NA 38 142 0 0 0 0 GGTLC1 92086 broad.mit.edu 37 20 23967230 23967230 + Missense_Mutation SNP A A C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr20:23967230A>C uc002wts.2 - 2 152 c.19T>G c.(19-21)TCT>GCT p.S7A GGTLC1_uc002wtu.2_Missense_Mutation_p.S7A NM_178312 NP_842564 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 7 gamma-glutamyltransferase activity ovary(1) 1 AGCTGGGCAGAGAAGAACTCG 0.642 NA 3 83 0 0 0 0 RBL1 5933 broad.mit.edu 37 20 35695460 35695460 + Silent SNP A A G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr20:35695460A>G uc002xgi.2 - 5 700 c.621T>C c.(619-621)GAT>GAC p.D207D RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Silent_p.D207D|RBL1_uc010gfv.1_RNA NM_002895 NP_002886 P28749 RBL1_HUMAN retinoblastoma-like protein 1 isoform a 207 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding lung(5)|skin(3)|ovary(2) 10 Myeloproliferative disorder(115;0.00878) CAAAAATCAGATCCAAGCAGC 0.303 NA 25 68 0 0 0 0 SEMG1 6406 broad.mit.edu 37 20 43837187 43837187 + Missense_Mutation SNP C C A rs145325570 byFrequency TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr20:43837187C>A uc002xni.2 + 2 1306 c.1249C>A c.(1249-1251)CTA>ATA p.L417I SEMG1_uc002xnj.2_Missense_Mutation_p.L357I|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.L357I NM_003007 NP_002998 P04279 SEMG1_HUMAN semenogelin I preproprotein 417 42 AA repeat 3. insemination|sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(2) 2 Myeloproliferative disorder(115;0.0122) AGAACAAGACCTACTCAGTCA 0.438 NA 21 48 4.97e-08 7.04e-08 1 0 DSCAM 1826 broad.mit.edu 37 21 41710050 41710050 + Missense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr21:41710050C>G uc002yyq.1 - 8 2213 c.1761G>C c.(1759-1761)CAG>CAC p.Q587H DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 587 Extracellular (Potential).|Ig-like C2-type 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CGTGGACGCTCTGGCTGGTGG 0.507 NA 12 102 0 0 0 0 LZTR1 8216 broad.mit.edu 37 22 21348988 21348988 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr22:21348988C>T uc002zto.2 + 15 1860 c.1757C>T c.(1756-1758)GCC>GTC p.A586V LZTR1_uc002ztn.2_Missense_Mutation_p.A545V|LZTR1_uc011ahy.1_Missense_Mutation_p.A567V|LZTR1_uc002ztp.2_5'Flank NM_006767 NP_006758 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 586 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity ovary(2)|lung(2) 4 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TGCGAGAGTGCCGCCCGGCTG 0.657 NA 3 31 0 0 0 0 PRRT3 285368 broad.mit.edu 37 3 9989488 9989488 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr3:9989488G>A uc003bul.2 - 4 1499 c.1369C>T c.(1369-1371)CCG>TCG p.P457S CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA NM_207351 NP_997234 Q5FWE3 PRRT3_HUMAN proline-rich transmembrane protein 3 precursor 457 Extracellular (Potential).|Pro-rich. integral to membrane 0 CAGCGTAGCGGGGGTGCAGTG 0.716 NA 3 5 0 0 0 0 ZNF621 285268 broad.mit.edu 37 3 40570902 40570902 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr3:40570902G>A uc003ckm.2 + 3 333 c.117G>A c.(115-117)GTG>GTA p.V39V ZNF621_uc003ckn.2_Silent_p.V39V|ZNF621_uc003cko.2_Intron|ZNF621_uc011aze.1_Intron NM_001098414 NP_001091884 Q6ZSS3 ZN621_HUMAN zinc finger protein 621 39 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648) ACGGGGAGGTGATGCTGGAGA 0.517 NA 57 85 0 0 0 0 CLDND1 56650 broad.mit.edu 37 3 98240146 98240146 + Missense_Mutation SNP T T G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr3:98240146T>G uc003dsp.2 - 2 1003 c.123A>C c.(121-123)GAA>GAC p.E41D CLDND1_uc003dso.2_Missense_Mutation_p.E41D|CLDND1_uc003dsq.2_Missense_Mutation_p.E41D|CLDND1_uc003dss.2_Missense_Mutation_p.E41D|CLDND1_uc003dsr.2_Intron|CLDND1_uc003dst.2_Missense_Mutation_p.E64D|CLDND1_uc003dsu.2_Missense_Mutation_p.E41D|CLDND1_uc003dsv.2_Missense_Mutation_p.E41D NM_019895 NP_063948 Q9NY35 CLDN1_HUMAN claudin domain containing 1 protein isoform a 41 integral to membrane ovary(1) 1 CACTGGAATTTTCTTGAACTG 0.393 NA 15 46 0 0 0 0 ARGFX 503582 broad.mit.edu 37 3 121303817 121303817 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr3:121303817G>C uc003eef.2 + 4 369 c.274G>C c.(274-276)GAG>CAG p.E92Q NM_001012659 NP_001012677 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 92 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(114;0.152) ACAGTATGAGGAGCTAGAAGC 0.443 NA 30 116 0 0 0 0 MYLK 4638 broad.mit.edu 37 3 123383036 123383036 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr3:123383036G>A uc003ego.2 - 23 4183 c.3901C>T c.(3901-3903)CGC>TGC p.R1301C MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Missense_Mutation_p.R101C|MYLK_uc011bjw.1_Missense_Mutation_p.R1301C|MYLK_uc003egp.2_Missense_Mutation_p.R1232C|MYLK_uc003egq.2_Missense_Mutation_p.R1301C|MYLK_uc003egr.2_Missense_Mutation_p.R1232C|MYLK_uc003egs.2_Missense_Mutation_p.R1125C NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 1301 Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TGCTCCTGGCGCGCGGCCAGG 0.627 NA 51 171 0 0 0 0 MECOM 2122 broad.mit.edu 37 3 168834351 168834351 + Nonsense_Mutation SNP C C A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr3:168834351C>A uc003ffi.3 - 7 1014 c.745G>T c.(745-747)GGA>TGA p.G249* MECOM_uc010hwk.1_Nonsense_Mutation_p.G272*|MECOM_uc003ffj.3_Nonsense_Mutation_p.G314*|MECOM_uc011bpi.1_Nonsense_Mutation_p.G250*|MECOM_uc003ffn.3_Nonsense_Mutation_p.G249*|MECOM_uc003ffk.2_Nonsense_Mutation_p.G249*|MECOM_uc003ffl.2_Nonsense_Mutation_p.G409*|MECOM_uc011bpj.1_Nonsense_Mutation_p.G437*|MECOM_uc011bpk.1_Nonsense_Mutation_p.G239*|MECOM_uc010hwn.2_Nonsense_Mutation_p.G437* NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 249 Interaction with MAPK9, SMAD3 and probably SUV39H1. apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 CCAAAAAATCCACCTGCCGCA 0.453 NA 18 59 1.26e-06 1.78e-06 1 0 MYNN 55892 broad.mit.edu 37 3 169496734 169496734 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr3:169496734G>C uc003fft.2 + 3 874 c.445G>C c.(445-447)GAT>CAT p.D149H MYNN_uc011bpm.1_Missense_Mutation_p.D35H|MYNN_uc003ffu.2_Missense_Mutation_p.D149H|MYNN_uc003ffv.2_5'UTR|MYNN_uc010hwo.2_Missense_Mutation_p.D149H|MYNN_uc003ffw.1_RNA NM_018657 NP_061127 Q9NPC7 MYNN_HUMAN myoneurin 149 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) TACTCTGCGAGATTATAATAA 0.343 NA 21 36 0 0 0 0 SRD5A3 79644 broad.mit.edu 37 4 56230347 56230347 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr4:56230347G>C uc003hau.2 + 3 566 c.471G>C c.(469-471)ATG>ATC p.M157I uc003hav.1_RNA NM_024592 NP_078868 Q9H8P0 PORED_HUMAN steroid 5 alpha-reductase 3 157 Lumenal (Potential). androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process endoplasmic reticulum membrane|integral to membrane 3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor 0 all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.0179) CCAATGTCATGATTCACGTCG 0.483 NA 16 72 0 0 0 0 MAP1B 4131 broad.mit.edu 37 5 71491499 71491499 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr5:71491499G>A uc003kbw.3 + 5 2558 c.2317G>A c.(2317-2319)GCC>ACC p.A773T MAP1B_uc010iyw.1_Missense_Mutation_p.A790T|MAP1B_uc010iyx.1_Missense_Mutation_p.A647T|MAP1B_uc010iyy.1_Missense_Mutation_p.A647T NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 773 Lys-rich (highly basic, contains many KKEE and KKEI/V repeats). microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TTCTGTTGCTGCCGGAAAGCC 0.473 NA 37 124 0 0 0 0 VCAN 1462 broad.mit.edu 37 5 82808041 82808041 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr5:82808041G>A uc003kii.3 + 6 1224 c.868G>A c.(868-870)GGC>AGC p.G290S VCAN_uc003kij.3_Missense_Mutation_p.G290S|VCAN_uc010jau.2_Missense_Mutation_p.G290S|VCAN_uc003kik.3_Missense_Mutation_p.G290S|VCAN_uc003kih.3_Missense_Mutation_p.G290S NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 290 Link 2. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ATGGAGGAACGGCTTTGACCA 0.602 NA 15 26 0 0 0 0 SEC24A 10802 broad.mit.edu 37 5 134007526 134007526 + Missense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr5:134007526C>G uc003kzs.2 + 4 1055 c.767C>G c.(766-768)TCT>TGT p.S256C SEC24A_uc011cxu.1_Missense_Mutation_p.L24V NM_021982 NP_068817 O95486 SC24A_HUMAN SEC24 related gene family, member A 256 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AATAACGGATCTATGGTGGTC 0.308 NA 12 27 0 0 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203521 140203521 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr5:140203521C>T uc003lhl.2 + 1 2161 c.2161C>T c.(2161-2163)CGG>TGG p.R721W PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.R721W|PCDHA5_uc003lhj.1_Missense_Mutation_p.R721W NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 721 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACCGCGCTGCGGTGCTCGGC 0.667 NA 33 69 0 0 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140735144 140735144 + Missense_Mutation SNP T T C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr5:140735144T>C uc003ljq.1 + 1 377 c.377T>C c.(376-378)GTT>GCT p.V126A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.V126A NM_018917 NP_061740 Q9Y5G9 PCDG4_HUMAN protocadherin gamma subfamily A, 4 isoform 1 126 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATAATCGATGTTAATGATAAC 0.423 NA 19 36 0 0 0 0 TCOF1 6949 broad.mit.edu 37 5 149754239 149754239 + Silent SNP C C A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr5:149754239C>A uc003lry.2 + 9 1251 c.1143C>A c.(1141-1143)TCC>TCA p.S381S TCOF1_uc003lrw.2_Silent_p.S381S|TCOF1_uc011dch.1_Silent_p.S381S|TCOF1_uc003lrz.2_Silent_p.S381S|TCOF1_uc003lrx.2_Silent_p.S304S|TCOF1_uc003lsa.2_Silent_p.S304S|TCOF1_uc011dci.1_5'Flank NM_001135243 NP_001128715 Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 381 skeletal system development nucleolus protein binding|transporter activity ovary(2)|large_intestine(1) 3 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCAAGGAGTCCCCCAGGAAAG 0.657 NA 20 66 1.26e-06 1.78e-06 1 0 MYLK4 340156 broad.mit.edu 37 6 2675332 2675332 + Silent SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr6:2675332G>C uc003mty.3 - 11 1365 c.1068C>G c.(1066-1068)CTC>CTG p.L356L MYLK4_uc003mtx.3_Silent_p.L71L NM_001012418 NP_001012418 Q86YV6 MYLK4_HUMAN myosin light chain kinase family, member 4 356 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(3)|ovary(1) 4 Ovarian(93;0.0412) all_hematologic(90;0.0897) AGGGGTGCTTGAGAGCTTCGC 0.488 NA 25 66 0 0 0 0 ZNF184 7738 broad.mit.edu 37 6 27420303 27420303 + Missense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr6:27420303C>G uc003njj.2 - 5 1846 c.1035G>C c.(1033-1035)CAG>CAC p.Q345H ZNF184_uc010jqv.2_Missense_Mutation_p.Q345H|ZNF184_uc003nji.2_Missense_Mutation_p.Q345H NM_007149 NP_009080 Q99676 ZN184_HUMAN zinc finger protein 184 345 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AGTGGCCTCTCTGGCTAAAGG 0.423 NA 6 30 0 0 0 0 HLA-A 3105 broad.mit.edu 37 6 29910349 29910349 + Nonsense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr6:29910349C>T uc003nol.2 + 1 19 c.19C>T c.(19-21)CGA>TGA p.R7* HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Nonsense_Mutation_p.R7*|HLA-A_uc003noo.2_Nonsense_Mutation_p.R7*|HLA-A_uc010jrr.2_Nonsense_Mutation_p.R7*|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.1_5'Flank|HLA-A_uc011dmd.1_5'Flank NM_002116 NP_002107 P30443 1A01_HUMAN major histocompatibility complex, class I, A 7 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 CATGGCGCCCCGAACCCTCCT 0.677 NA 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) 17 65 0 0 0 0 VPS52 6293 broad.mit.edu 37 6 33219368 33219368 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr6:33219368G>A uc003odm.1 - 19 2162 c.1952C>T c.(1951-1953)TCA>TTA p.S651L VPS52_uc003odn.1_Missense_Mutation_p.S462L NM_022553 NP_072047 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 651 protein transport endosome membrane|Golgi apparatus ovary(4)|skin(1) 5 TTCCACTGATGATTTCCAGGA 0.507 NA 30 74 0 0 0 0 LRFN2 57497 broad.mit.edu 37 6 40359913 40359913 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr6:40359913C>T uc003oph.1 - 3 2604 c.2139G>A c.(2137-2139)CCG>CCA p.P713P NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 713 Cytoplasmic (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) TGCCCTCCAACGGCAAGGGGA 0.736 NA 5 14 0 0 0 0 NCR2 9436 broad.mit.edu 37 6 41318601 41318601 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr6:41318601G>A uc003oqh.2 + 5 917 c.830G>A c.(829-831)TGA>TAA p.*277* NCR2_uc003oqi.2_3'UTR|NCR2_uc003oqj.2_3'UTR NM_004828 NP_004819 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 277 cellular defense response integral to plasma membrane transmembrane receptor activity ovary(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) cacactttgtgaataataaaa 0.169 NA 15 39 0 0 0 0 MAN1A1 4121 broad.mit.edu 37 6 119501047 119501047 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr6:119501047G>A uc003pym.1 - 13 2341 c.1899C>T c.(1897-1899)AGC>AGT p.S633S NM_005907 NP_005898 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 633 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) GATGTGCCTCGCTATTGAAGA 0.378 NA 9 39 0 0 0 0 NCOA7 135112 broad.mit.edu 37 6 126203622 126203622 + Silent SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr6:126203622G>A uc010kes.2 + 9 1073 c.624G>A c.(622-624)TCG>TCA p.S208S NCOA7_uc003qae.3_Silent_p.S208S|NCOA7_uc003qah.2_Silent_p.S208S|NCOA7_uc003qai.2_Silent_p.S208S|NCOA7_uc010ket.2_Silent_p.S104S|NCOA7_uc003qaf.2_Silent_p.S208S|NCOA7_uc003qag.2_Silent_p.S208S NM_181782 NP_861447 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 isoform 1 208 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) GAGTCTTATCGTCTACTTCTG 0.348 NA 7 39 0 0 0 0 NCOA7 135112 broad.mit.edu 37 6 126210917 126210917 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr6:126210917G>A uc010kes.2 + 11 2166 c.1717G>A c.(1717-1719)GAG>AAG p.E573K NCOA7_uc003qae.3_Missense_Mutation_p.E573K|NCOA7_uc003qah.2_Missense_Mutation_p.E562K|NCOA7_uc003qai.2_Missense_Mutation_p.E573K|NCOA7_uc010ket.2_Missense_Mutation_p.E458K NM_181782 NP_861447 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 isoform 1 573 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) TCCCATAACTGAGGGCAATAA 0.438 NA 13 43 0 0 0 0 SYNE1 23345 broad.mit.edu 37 6 152706952 152706952 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr6:152706952C>T uc010kiw.2 - 55 9111 c.8509G>A c.(8509-8511)GAG>AAG p.E2837K SYNE1_uc003qot.3_Missense_Mutation_p.E2844K|SYNE1_uc003qou.3_Missense_Mutation_p.E2837K|SYNE1_uc010kjb.1_Missense_Mutation_p.E2820K NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2837 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTCACAATCTCTTCCACTTTC 0.408 NA HNSCC(10;0.0054) 19 79 0 0 0 0 QKI 9444 broad.mit.edu 37 6 163876442 163876442 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr6:163876442G>C uc003qui.2 + 2 825 c.274G>C c.(274-276)GAA>CAA p.E92Q QKI_uc003que.2_Missense_Mutation_p.E92Q|QKI_uc003quf.2_Missense_Mutation_p.E92Q|QKI_uc003qug.2_Missense_Mutation_p.E92Q|QKI_uc003quh.2_Missense_Mutation_p.E92Q|QKI_uc003quj.2_Missense_Mutation_p.E92Q NM_006775 NP_006766 Q96PU8 QKI_HUMAN quaking homolog, KH domain RNA binding isoform 92 KH. mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding large_intestine(1)|ovary(1) 2 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) GCCTGTAAAAGAATACCCAGA 0.343 NA 24 54 0 0 0 0 DGKB 1607 broad.mit.edu 37 7 14378224 14378224 + Nonsense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr7:14378224G>A uc003ssz.2 - 22 2228 c.2041C>T c.(2041-2043)CGA>TGA p.R681* DGKB_uc011jxt.1_Nonsense_Mutation_p.R662*|DGKB_uc003sta.2_Nonsense_Mutation_p.R681*|DGKB_uc011jxu.1_Nonsense_Mutation_p.R680* NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 681 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) CGATGGCTTCGTCTTTTCTTA 0.398 NA 30 68 0 0 0 0 GRM3 2913 broad.mit.edu 37 7 86468769 86468769 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr7:86468769G>A uc003uid.2 + 4 3038 c.1939G>A c.(1939-1941)GGG>AGG p.G647R GRM3_uc010lef.2_Intron|GRM3_uc010leg.2_Missense_Mutation_p.G519R|GRM3_uc010leh.2_Missense_Mutation_p.G239R NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 647 Helical; Name=3; (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GCGCCGACTCGGGCTGGGGAG 0.527 NA 53 136 0 0 0 0 ZNF789 285989 broad.mit.edu 37 7 99084583 99084583 + Missense_Mutation SNP T T G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr7:99084583T>G uc003uqq.1 + 5 969 c.750T>G c.(748-750)TGT>TGG p.C250W ZNF789_uc010lfw.1_Missense_Mutation_p.C155W|ZNF789_uc003uqr.1_Missense_Mutation_p.C192W NM_213603 NP_998768 Q5FWF6 ZN789_HUMAN zinc finger protein 789 isoform 1 250 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) ATAAACAGTGTCACCTGCAAA 0.428 NA 27 67 0 0 0 0 WASL 8976 broad.mit.edu 37 7 123346798 123346798 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr7:123346798C>T uc003vkz.2 - 3 663 c.335G>A c.(334-336)GGA>GAA p.G112E NM_003941 NP_003932 O00401 WASL_HUMAN Wiskott-Aldrich syndrome gene-like protein 112 WH1. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity 0 ACTTACATCTCCAGCAAAGGT 0.284 NA 18 38 0 0 0 0 TMEM140 55281 broad.mit.edu 37 7 134849458 134849458 + Missense_Mutation SNP G G A rs143180494 by1000genomes TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr7:134849458G>A uc003vsi.2 + 2 546 c.265G>A c.(265-267)GGG>AGG p.G89R C7orf49_uc003vsh.2_Intron NM_018295 NP_060765 Q9NV12 TM140_HUMAN transmembrane protein 140 89 Helical; (Potential). integral to membrane large_intestine(1) 1 TGGCGTGTACGGGTCCCTGGT 0.652 NA 38 69 0 0 0 0 TAF2 6873 broad.mit.edu 37 8 120818639 120818639 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr8:120818639C>T uc003you.2 - 4 572 c.302G>A c.(301-303)AGA>AAA p.R101K NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 101 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) ATTGAGGTTTCTCCTGGGGAA 0.313 NA 18 64 0 0 0 0 ZC3H3 23144 broad.mit.edu 37 8 144557590 144557590 + Silent SNP G G T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr8:144557590G>T uc003yyd.2 - 5 1910 c.1881C>A c.(1879-1881)GGC>GGA p.G627G NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 627 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding skin(1) 1 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) GGGGCCTGCTGCCCGCATCAC 0.657 NA 13 37 4.37e-10 6.3e-10 1 0 TAF1L 138474 broad.mit.edu 37 9 32635389 32635389 + Silent SNP C C T rs55895024 byFrequency TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr9:32635389C>T uc003zrg.1 - 1 279 c.189G>A c.(187-189)AAG>AAA p.K63K uc003zrh.1_Intron NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 63 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CTGCCAAGTGCTTCTTACACT 0.547 NA 35 134 0 0 0 0 UBE2R2 54926 broad.mit.edu 37 9 33917126 33917126 + Nonsense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr9:33917126C>G uc003ztm.2 + 5 1182 c.608C>G c.(607-609)TCA>TGA p.S203* NM_017811 NP_060281 Q712K3 UB2R2_HUMAN ubiquitin-conjugating enzyme UBC3B 203 Asp/Glu-rich (acidic). protein K48-linked ubiquitination|protein monoubiquitination ATP binding|ubiquitin-protein ligase activity 0 LUSC - Lung squamous cell carcinoma(29;0.0176) GBM - Glioblastoma multiforme(74;0.188) GACAACAGCTCAGATTTGCTT 0.328 NA 8 66 0 0 0 0 ARID3C 138715 broad.mit.edu 37 9 34623560 34623560 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr9:34623560G>A uc011lon.1 - 4 727 c.727C>T c.(727-729)CGG>TGG p.R243W NM_001017363 NP_001017363 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT- like) 243 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) TGAGCGCCCCGAGGGGGCGGC 0.746 NA 7 42 0 0 0 0 TLN1 7094 broad.mit.edu 37 9 35715166 35715166 + Missense_Mutation SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr9:35715166C>T uc003zxt.2 - 21 2998 c.2644G>A c.(2644-2646)GAC>AAC p.D882N NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 882 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TCCTCACTGTCAGGGTGGGCA 0.592 NA 10 93 0 0 0 0 C9orf135 138255 broad.mit.edu 37 9 72471558 72471558 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr9:72471558G>A uc004ahl.2 + 3 414 c.349G>A c.(349-351)GAG>AAG p.E117K C9orf135_uc011lrw.1_Missense_Mutation_p.E9K|C9orf135_uc010moq.2_Missense_Mutation_p.E9K|C9orf135_uc011lrx.1_RNA|C9orf135_uc010mop.2_Missense_Mutation_p.E117K NM_001010940 NP_001010940 Q5VTT2 CI135_HUMAN hypothetical protein LOC138255 117 Extracellular (Potential). integral to membrane ovary(1) 1 TTTATTGAATGAGGAAACAGT 0.348 NA 8 69 0 0 0 0 IARS 3376 broad.mit.edu 37 9 95043130 95043130 + Missense_Mutation SNP C C G TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr9:95043130C>G uc004art.1 - 7 900 c.643G>C c.(643-645)GAT>CAT p.D215H IARS_uc004ars.1_Missense_Mutation_p.D60H|IARS_uc004aru.3_Missense_Mutation_p.D215H|IARS_uc010mqr.2_Missense_Mutation_p.D105H|IARS_uc010mqt.2_Intron NM_013417 NP_038203 P41252 SYIC_HUMAN isoleucine tRNA synthetase 215 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding ovary(1)|skin(1) 2 L-Isoleucine(DB00167) ACAGTTTCATCTTCTTCCAAA 0.353 NA 4 52 0 0 0 0 C5 727 broad.mit.edu 37 9 123731393 123731393 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr9:123731393G>C uc004bkv.2 - 33 4196 c.4166C>G c.(4165-4167)TCC>TGC p.S1389C NM_001735 NP_001726 P01031 CO5_HUMAN complement component 5 preproprotein 1389 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) TCTGTAGTGGGATGCTGGCAC 0.413 NA 15 106 0 0 0 0 TTLL11 158135 broad.mit.edu 37 9 124751422 124751422 + Missense_Mutation SNP T T A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr9:124751422T>A uc004blt.1 - 4 1779 c.1591A>T c.(1591-1593)AGG>TGG p.R531W TTLL11_uc011lyl.1_Intron|TTLL11_uc004blr.2_Intron|TTLL11_uc011lym.1_Intron|TTLL11_uc004blu.1_3'UTR NM_194252 NP_919228 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 531 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity 0 CAGAGAGCCCTCTTGAGGCCG 0.547 NA 29 113 0 0 0 0 LRSAM1 90678 broad.mit.edu 37 9 130257620 130257620 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr9:130257620G>A uc004brb.1 + 22 1966 c.1621G>A c.(1621-1623)GAA>AAA p.E541K LRSAM1_uc010mxk.1_Missense_Mutation_p.E514K|LRSAM1_uc004brc.1_Missense_Mutation_p.E541K|LRSAM1_uc004brd.1_Missense_Mutation_p.E541K|LRSAM1_uc004bre.1_Missense_Mutation_p.E121K|uc004brf.1_5'Flank|LRSAM1_uc004brg.1_5'UTR NM_001005373 NP_001005373 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif 541 Potential. negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding 0 AGCCAAAAGTGAAACCAGGCA 0.418 NA 8 46 0 0 0 0 AK1 203 broad.mit.edu 37 9 130630646 130630646 + Missense_Mutation SNP G G A TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr9:130630646G>A uc004bsm.3 - 6 623 c.470C>T c.(469-471)ACA>ATA p.T157I NM_000476 NP_000467 P00568 KAD1_HUMAN adenylate kinase 1 157 ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion cytosol adenylate kinase activity|ATP binding|protein binding 0 GACAGGTTCTGTGGCCTTGTA 0.532 NA 10 17 0 0 0 0 BAT2L1 84726 broad.mit.edu 37 9 134321939 134321939 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr9:134321939C>T uc004can.3 + 6 820 c.765C>T c.(763-765)CTC>CTT p.L255L BAT2L1_uc010mzj.1_5'Flank|BAT2L1_uc004cam.1_Silent_p.L255L NM_013318 NP_037450 Q5JSZ5 PRC2B_HUMAN HLA-B associated transcript 2-like 255 protein binding 0 ACCCCTCTCTCCGCCCGGCTC 0.562 NA 5 48 0 0 0 0 FAM69B 138311 broad.mit.edu 37 9 139617956 139617956 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr9:139617956C>T uc004cik.2 + 5 1120 c.1026C>T c.(1024-1026)TAC>TAT p.Y342Y FAM69B_uc004cil.2_Silent_p.Y255Y|SNHG7_uc004cim.2_Intron NM_152421 NP_689634 Q5VUD6 FA69B_HUMAN hypothetical protein LOC138311 342 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane 0 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013) ACTGCACCTACGGGCGCGACT 0.687 NA 8 13 0 0 0 0 SYAP1 94056 broad.mit.edu 37 X 16737953 16737953 + Missense_Mutation SNP G G C TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chrX:16737953G>C uc004cxp.2 + 1 199 c.106G>C c.(106-108)GAG>CAG p.E36Q SYAP1_uc004cxo.2_Missense_Mutation_p.E36Q|SYAP1_uc011miv.1_Silent_p.L14L NM_032796 NP_116185 Q96A49 SYAP1_HUMAN SYAP1 protein 36 skin(1) 1 Hepatocellular(33;0.0997) GACGGTGGCTGAGTCTGCGGA 0.667 NA 4 3 0 0 0 0 SSX1 6756 broad.mit.edu 37 X 48123288 48123288 + Silent SNP C C T TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chrX:48123288C>T uc004djb.1 + 6 493 c.402C>T c.(400-402)AAC>AAT p.N134N NM_005635 NP_005626 Q16384 SSX1_HUMAN synovial sarcoma, X breakpoint 1 134 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|transcription corepressor activity SS18/SSX1(1169) soft_tissue(1169) 1169 GCCCACAAAACGATGGGAAAC 0.423 NA 82 59 0 0 0 0 MBD6 114785 broad.mit.edu 37 12 57920934 57920934 + Frame_Shift_Del DEL C C - TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr12:57920934delC uc001soj.1 + 7 2230 c.2006delC c.(2005-2007)GCCfs p.A669fs MBD6_uc001sok.1_Frame_Shift_Del_p.A536fs|MBD6_uc001sol.1_RNA NM_052897 NP_443129 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 669 Pro-rich. chromosome|nucleus chromatin binding|DNA binding central_nervous_system(3)|ovary(1) 4 CCACTTTCAGCCCCCCCTACC 0.642 NA 14 29 --- --- --- --- NA NA NA NA SREBF1 6720 broad.mit.edu 37 17 17720296 17720297 + Frame_Shift_Ins INS - - TT TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:17720296_17720297insTT uc002gru.1 - 9 1954_1955 c.1760_1761insAA c.(1759-1761)AAGfs p.K587fs SREBF1_uc002grp.1_Frame_Shift_Ins_p.K206fs|SREBF1_uc002grq.1_Frame_Shift_Ins_p.K106fs|SREBF1_uc002grr.1_Frame_Shift_Ins_p.K333fs|SREBF1_uc002grs.1_Frame_Shift_Ins_p.K563fs|SREBF1_uc002grt.1_Frame_Shift_Ins_p.K617fs NM_004176 NP_004167 P36956 SRBP1_HUMAN sterol regulatory element binding transcription 587 Cytoplasmic (Potential). cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding skin(1) 1 GGTCAGCCTGCTTGCGATGCCT 0.653 NA 37 100 --- --- --- --- NA NA NA NA RSAD1 55316 broad.mit.edu 37 17 48556334 48556334 + Frame_Shift_Del DEL C C - TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr17:48556334delC uc002iqw.1 + 1 145 c.89delC c.(88-90)TCCfs p.S30fs RSAD1_uc010wmp.1_Frame_Shift_Del_p.S30fs|RSAD1_uc010wmq.1_RNA NM_018346 NP_060816 Q9HA92 RSAD1_HUMAN radical S-adenosyl methionine domain containing 30 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding 0 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) GCAGGAGGGTCCCCGAGTCCT 0.776 NA OREG0024566 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- NA NA NA NA ZNF831 128611 broad.mit.edu 37 20 57768086 57768086 + Frame_Shift_Del DEL T T - TCGA-CR-7373-01A-11D-2012-08 TCGA-CR-7373-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b1f5f6d-503c-4933-944a-b4fd1cc3fa93 88363097-f88e-49cc-9f95-068aa5a3a03f g.chr20:57768086delT uc002yan.2 + 1 2012 c.2012delT c.(2011-2013)GTCfs p.V671fs NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 671 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) TCAGGCACAGTCCCCACCCAA 0.622 NA 19 35 --- --- --- --- NA NA NA NA