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 CLSTN1 22883 broad.mit.edu 37 1 9809625 9809625 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr1:9809625G>C uc001aqh.2 - 7 1638 c.879C>G c.(877-879)GAC>GAG p.D293E CLSTN1_uc001aqi.2_Missense_Mutation_p.D283E|CLSTN1_uc010oag.1_Missense_Mutation_p.D293E NM_001009566 NP_001009566 O94985 CSTN1_HUMAN calsyntenin 1 isoform 1 293 Extracellular (Potential). homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding skin(1) 1 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) CGACTGGCTCGTCACATGTCT 0.572000 CLCNKA 1187 broad.mit.edu 37 1 16359716 16359716 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr1:16359716C>T uc001axu.2 + 19 2061 c.1981C>T c.(1981-1983)CGG>TGG p.R661W CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Missense_Mutation_p.R660W|CLCNKA_uc010obw.1_Missense_Mutation_p.R618W|CLCNKB_uc001axw.3_Intron NM_004070 NP_004061 P51800 CLCKA_HUMAN chloride channel Ka isoform 1 661 CBS 2. excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) CGTGACATCGCGGGGCAGAGC 0.612000 OREG0013132 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ASH1L 55870 broad.mit.edu 37 1 155408474 155408474 + Silent SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr1:155408474G>A uc009wqq.2 - 5 5952 c.5472C>T c.(5470-5472)GAC>GAT p.D1824D ASH1L_uc001fkt.2_Silent_p.D1824D NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 1824 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) TATTGACATGGTCTAGGTTTT 0.448000 SPTA1 6708 broad.mit.edu 37 1 158623116 158623116 + Nonsense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr1:158623116G>A uc001fst.1 - 22 3335 c.3136C>T c.(3136-3138)CGA>TGA p.R1046* NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1046 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCTTCTCGTCGCCGCTGTGGG 0.537000 LRRC52 440699 broad.mit.edu 37 1 165513859 165513859 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr1:165513859G>C uc001gde.2 + 1 382 c.326G>C c.(325-327)AGC>ACC p.S109T LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 precursor 109 LRR 3.|Extracellular (Potential). integral to membrane ovary(1) 1 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) CTTGACCTCAGCTCCAACAAC 0.488000 DSTYK 25778 broad.mit.edu 37 1 205132996 205132996 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr1:205132996C>T uc001hbw.2 - 4 1476 c.1412G>A c.(1411-1413)CGA>CAA p.R471Q DSTYK_uc001hbx.2_Missense_Mutation_p.R471Q|DSTYK_uc001hby.1_Intron NM_015375 NP_056190 Q6XUX3 DUSTY_HUMAN receptor interacting protein kinase 5 isoform 1 471 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(1) 1 CTGATTAAGTCGGGAGATGAT 0.512000 TRAF3IP3 80342 broad.mit.edu 37 1 209933511 209933511 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr1:209933511C>T uc001hho.2 + 3 417 c.127C>T c.(127-129)CGC>TGC p.R43C TRAF3IP3_uc001hhl.2_Missense_Mutation_p.R43C|TRAF3IP3_uc001hhm.1_Missense_Mutation_p.R43C|TRAF3IP3_uc001hhn.2_Missense_Mutation_p.R43C|TRAF3IP3_uc009xcr.2_Missense_Mutation_p.R43C NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN TRAF3-interacting JNK-activating modulator 43 Cytoplasmic (Potential). integral to membrane protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.045) GACCACTTGCCGCCAGGTGGG 0.612000 CENPF 1063 broad.mit.edu 37 1 214818018 214818018 + Missense_Mutation SNP T T A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr1:214818018T>A uc001hkm.2 + 13 5279 c.5105T>A c.(5104-5106)CTC>CAC p.L1702H NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 1798 cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) CAGCAGGACCTCAATCTAGAC 0.438000 TLR5 7100 broad.mit.edu 37 1 223285526 223285526 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr1:223285526G>C uc001hnv.1 - 4 1294 c.848C>G c.(847-849)GCT>GGT p.A283G TLR5_uc001hnw.1_Missense_Mutation_p.A283G NM_003268 NP_003259 O60602 TLR5_HUMAN toll-like receptor 5 precursor 283 Extracellular (Potential). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity ovary(2)|lung(1)|skin(1) 4 GBM - Glioblastoma multiforme(131;0.0851) GGCCAGGCCAGCAAATGTGTT 0.483000 ZWINT 11130 broad.mit.edu 37 10 58120068 58120068 + Missense_Mutation SNP C C G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr10:58120068C>G uc001jjx.1 - 2 155 c.118G>C c.(118-120)GTT>CTT p.V40L ZWINT_uc001jjy.1_Missense_Mutation_p.V40L|ZWINT_uc001jka.1_Missense_Mutation_p.V40L|ZWINT_uc009xoy.1_RNA NM_007057 NP_008988 O95229 ZWINT_HUMAN ZW10 interactor isoform a 40 cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding 0 ACAAACTCAACCAGGATCTTG 0.572000 HK1 3098 broad.mit.edu 37 10 71142523 71142523 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr10:71142523G>A uc001jpl.3 + 10 1647 c.1546G>A c.(1546-1548)GTC>ATC p.V516I HK1_uc001jpg.3_Missense_Mutation_p.V504I|HK1_uc001jph.3_Missense_Mutation_p.V520I|HK1_uc001jpi.3_Missense_Mutation_p.V520I|HK1_uc001jpj.3_Missense_Mutation_p.V551I|HK1_uc001jpk.3_Missense_Mutation_p.V515I|HK1_uc009xqd.2_Missense_Mutation_p.V394I NM_000188 NP_000179 P19367 HXK1_HUMAN hexokinase 1 isoform HKI 516 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity ovary(1) 1 GCCCTCCTTCGTCCGGAGAAC 0.632000 SAR1A 56681 broad.mit.edu 37 10 71921409 71921409 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr10:71921409G>C uc010qjh.1 - 4 347 c.144C>G c.(142-144)GAC>GAG p.D48E SAR1A_uc010qji.1_Missense_Mutation_p.D48E|SAR1A_uc010qjj.1_Missense_Mutation_p.D5E NM_001142648 NP_001136120 Q9NR31 SAR1A_HUMAN SAR1a gene homolog 1 48 ER to Golgi vesicle-mediated transport|intracellular protein transport Golgi apparatus GTP binding|GTPase activity 0 GGCCCAATCTGTCATCTTTGA 0.388000 BTAF1 9044 broad.mit.edu 37 10 93753597 93753597 + Missense_Mutation SNP T T A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr10:93753597T>A uc001khr.2 + 22 3290 c.3192T>A c.(3190-3192)AAT>AAA p.N1064K BTAF1_uc001kht.1_Missense_Mutation_p.N502K NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 1064 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) TCGACATAAATAATTTTGGTA 0.323000 RBP4 5950 broad.mit.edu 37 10 95360237 95360237 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr10:95360237C>T uc001kit.2 - 4 352 c.268G>A c.(268-270)GAC>AAC p.D90N NM_006744 NP_006735 P02753 RET4_HUMAN retinol-binding protein 4, plasma precursor 90 cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development extracellular space protein binding|retinal binding|retinol binding 0 Colorectal(252;0.122) Vitamin A(DB00162) CCCACCATGTCTGCGCACACG 0.582000 ABCC2 1244 broad.mit.edu 37 10 101590129 101590129 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr10:101590129G>A uc001kqf.2 + 20 2825 c.2686G>A c.(2686-2688)GAA>AAA p.E896K NM_000392 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), 896 Cytoplasmic (By similarity). apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) AGAGATCCCCGAAGATGCAGC 0.507000 GFRA1 2674 broad.mit.edu 37 10 117884945 117884945 + Missense_Mutation SNP A A G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr10:117884945A>G uc001lcj.2 - 6 1255 c.557T>C c.(556-558)GTC>GCC p.V186A GFRA1_uc001lci.2_Missense_Mutation_p.V181A|GFRA1_uc009xyr.2_Missense_Mutation_p.V181A NM_005264 NP_005255 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 isoform a 186 2. axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity ovary(1)|pancreas(1) 2 Lung NSC(174;0.21) all cancers(201;0.0337) GCGGTTGCAGACATCGTTGGA 0.597000 NKX6-2 84504 broad.mit.edu 37 10 134598811 134598811 + Silent SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr10:134598811C>T uc001llr.2 - 2 637 c.552G>A c.(550-552)TCG>TCA p.S184S NM_177400 NP_796374 Q9C056 NKX62_HUMAN NK6 transcription factor related, locus 2 184 Homeobox. nucleus sequence-specific DNA binding transcription factor activity 0 all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05) TCATGCCCAGCGAGTAGGCGA 0.692000 MUC5B 727897 broad.mit.edu 37 11 1155765 1155765 + Silent SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr11:1155765C>T uc009ycr.1 + 5 579 c.453C>T c.(451-453)TCC>TCT p.S151S NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 147 VWFD 1. 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) CCAAGGGCTCCGTCCTGGTCA 0.662000 LIN7C 55327 broad.mit.edu 37 11 27528282 27528282 + Silent SNP T T C rs142535769 by1000genomes TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr11:27528282T>C uc001mrl.2 - 1 45 c.18A>G c.(16-18)GAA>GAG p.E6E LIN7C_uc009yii.2_Silent_p.E6E|BDNFOS_uc001mrm.2_5'Flank|BDNFOS_uc009yij.2_5'Flank|BDNFOS_uc009yik.2_5'Flank|BDNFOS_uc009yil.2_5'Flank|BDNFOS_uc001mrp.2_5'Flank|BDNFOS_uc009yim.2_5'Flank|BDNFOS_uc009yin.2_5'Flank|BDNFOS_uc009yio.2_5'Flank|BDNFOS_uc009yip.2_5'Flank|BDNFOS_uc001mrn.2_5'Flank|BDNFOS_uc009yiq.2_5'Flank|BDNFOS_uc001mro.2_5'Flank|BDNFOS_uc009yir.2_5'Flank|BDNFOS_uc009yis.2_5'Flank|BDNFOS_uc009yit.2_5'Flank|BDNFOS_uc009yiu.2_5'Flank|BDNFOS_uc009yiv.2_5'Flank|BDNFOS_uc009yiw.2_5'Flank|BDNFOS_uc009yix.2_5'Flank|BDNFOS_uc009yiy.2_5'Flank|BDNFOS_uc009yiz.2_5'Flank|BDNFOS_uc001mrq.3_5'Flank|BDNFOS_uc001mrr.3_5'Flank|BDNFOS_uc009yja.2_5'Flank|BDNFOS_uc009yjb.2_5'Flank NM_018362 NP_060832 Q9NUP9 LIN7C_HUMAN lin-7 homolog C 6 Kinase interacting site (By similarity). exocytosis|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction 0 GCCGCACGGGTTCCCCTAGCG 0.662000 PTPRJ 5795 broad.mit.edu 37 11 48177352 48177352 + Splice_Site SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr11:48177352G>C uc001ngp.3 + 20 3585 c.3230_splice c.e20-1 p.Y1077_splice NM_002843 NP_002834 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|kidney(3)|ovary(1)|skin(1) 8 TAATGTCACAGATGATATTTC 0.388000 MS4A15 219995 broad.mit.edu 37 11 60531284 60531284 + Silent SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr11:60531284G>A uc009ynf.1 + 2 298 c.78G>A c.(76-78)CCG>CCA p.P26P MS4A15_uc001npx.2_Intron|MS4A15_uc001npy.2_RNA|MS4A15_uc009yng.1_Silent_p.P26P NM_001098835 NP_001092305 Q8N5U1 M4A15_HUMAN membrane-spanning 4-domains, subfamily A, member 26 integral to membrane receptor activity lung(1) 1 GCCCACCTCCGGCCATTCTGC 0.602000 SCGB2A2 4250 broad.mit.edu 37 11 62037723 62037723 + Missense_Mutation SNP T T A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr11:62037723T>A uc001ntc.2 + 1 94 c.35T>A c.(34-36)CTC>CAC p.L12H SCGB2A2_uc009ynx.2_Missense_Mutation_p.L12H NM_002411 NP_002402 Q13296 SG2A2_HUMAN secretoglobin, family 2A, member 2 precursor 12 extracellular region steroid binding ovary(1) 1 CTGGCGGCCCTCTCCCAGCAC 0.607000 RSF1 51773 broad.mit.edu 37 11 77409649 77409649 + Silent SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr11:77409649G>A uc001oyn.2 - 7 2718 c.2598C>T c.(2596-2598)GGC>GGT p.G866G RSF1_uc001oym.2_Silent_p.G614G NM_016578 NP_057662 Q96T23 RSF1_HUMAN remodeling and spacing factor 1 866 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) ATTTTTCACTGCCAGACCCTT 0.433000 KCTD21 283219 broad.mit.edu 37 11 77884828 77884828 + Missense_Mutation SNP C C A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr11:77884828C>A uc001ozb.2 - 2 848 c.773G>T c.(772-774)CGG>CTG p.R258L NM_001029859 NP_001025030 Q4G0X4 KCD21_HUMAN potassium channel tetramerisation domain 258 voltage-gated potassium channel complex voltage-gated potassium channel activity pancreas(1) 1 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.46e-24) TTACCTGTACCGTATTAATCG 0.498000 GRM5 2915 broad.mit.edu 37 11 88781018 88781018 + Nonsense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr11:88781018G>C uc001pcq.2 - 1 223 c.23C>G c.(22-24)TCA>TGA p.S8* GRM5_uc009yvm.2_Nonsense_Mutation_p.S8*|GRM5_uc009yvn.1_Nonsense_Mutation_p.S8* NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 8 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) AAGTAAGACTGACAGGATCAA 0.473000 SESN3 143686 broad.mit.edu 37 11 94923017 94923017 + Silent SNP T T G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr11:94923017T>G uc001pfk.1 - 4 673 c.451A>C c.(451-453)AGA>CGA p.R151R SESN3_uc010rug.1_Intron|SESN3_uc001pfl.2_Silent_p.R151R NM_144665 NP_653266 P58005 SESN3_HUMAN sestrin 3 151 cell cycle arrest nucleus 0 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) TTTTTCAGTCTTTGTGGCACA 0.348000 BIRC2 329 broad.mit.edu 37 11 102220931 102220931 + Missense_Mutation SNP C C G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr11:102220931C>G uc001pgy.2 + 2 1745 c.346C>G c.(346-348)CTG>GTG p.L116V BIRC2_uc010ruq.1_Missense_Mutation_p.L67V|BIRC2_uc010rur.1_Missense_Mutation_p.L116V NM_001166 NP_001157 Q13490 BIRC2_HUMAN baculoviral IAP repeat-containing protein 2 116 cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination CD40 receptor complex|cytosol|internal side of plasma membrane protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0144) TATTCAGAATCTGGTTTCAGC 0.413000 BCL9L 283149 broad.mit.edu 37 11 118771876 118771876 + Missense_Mutation SNP A A G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr11:118771876A>G uc001pug.2 - 6 3541 c.2576T>C c.(2575-2577)ATG>ACG p.M859T BCL9L_uc009zal.2_Missense_Mutation_p.M854T NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 859 negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity ovary(1)|pancreas(1) 2 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GTCCTGGGACATGGCTTGGTA 0.602000 SORL1 6653 broad.mit.edu 37 11 121495981 121495981 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr11:121495981G>C uc001pxx.2 + 46 6439 c.6359G>C c.(6358-6360)GGG>GCG p.G2120A SORL1_uc010rzp.1_Missense_Mutation_p.G966A|SORL1_uc010rzq.1_Missense_Mutation_p.G735A NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 2120 Extracellular (Potential). cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GATGAGCTGGGGTCTGGTGAG 0.473000 NTF3 4908 broad.mit.edu 37 12 5603686 5603686 + Silent SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr12:5603686G>A uc001qnl.3 + 1 389 c.306G>A c.(304-306)CCG>CCA p.P102P NTF3_uc001qnk.3_Silent_p.P115P NM_002527 NP_002518 P20783 NTF3_HUMAN neurotrophin 3 isoform 2 preproprotein 102 signal transduction extracellular region growth factor activity|neurotrophin receptor binding pancreas(1) 1 ACAACTCACCGCGGGTCCTGC 0.642000 TAS2R20 259295 broad.mit.edu 37 12 11150144 11150144 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr12:11150144C>T uc001qzm.2 - 1 331 c.331G>A c.(331-333)GTC>ATC p.V111I PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176889 NP_795370 P59543 T2R20_HUMAN taste receptor, type 2, member 20 111 Cytoplasmic (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity 0 GAGAAATTGACGATCTTGAGC 0.358000 PLBD1 79887 broad.mit.edu 37 12 14664633 14664633 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr12:14664633G>C uc001rcc.1 - 7 1018 c.857C>G c.(856-858)TCT>TGT p.S286C NM_024829 NP_079105 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 286 lipid catabolic process extracellular region hydrolase activity 0 ATCATCCAGAGACTCCAAAAA 0.373000 MLL2 8085 broad.mit.edu 37 12 49421805 49421805 + Missense_Mutation SNP T T A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr12:49421805T>A uc001rta.3 - 46 14502 c.14502A>T c.(14500-14502)GAA>GAT p.E4834D NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 4834 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GACCCTCAGCTTCCCCCTTCT 0.612000 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) PFDN5 5204 broad.mit.edu 37 12 53689700 53689700 + Silent SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr12:53689700G>C uc001scl.2 + 2 267 c.150G>C c.(148-150)CTG>CTC p.L50L PFDN5_uc001scm.2_Intron|PFDN5_uc001scn.2_RNA|PFDN5_uc001sco.2_RNA NM_002624 NP_002615 Q99471 PFD5_HUMAN prefoldin subunit 5 isoform alpha 50 'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent nucleus|prefoldin complex transcription corepressor activity|unfolded protein binding ovary(1) 1 AGGACTGTCTGAACGTGCTGA 0.537000 OS9 10956 broad.mit.edu 37 12 58090082 58090082 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr12:58090082C>T uc001spj.2 + 5 564 c.505C>T c.(505-507)CGC>TGC p.R169C OS9_uc010srx.1_Intron|OS9_uc001spk.2_Missense_Mutation_p.R169C|OS9_uc001spl.2_Missense_Mutation_p.R169C|OS9_uc001spm.2_Missense_Mutation_p.R169C|OS9_uc001spn.2_Missense_Mutation_p.R169C|OS9_uc010sry.1_Intron|OS9_uc010srz.1_Missense_Mutation_p.R110C NM_006812 NP_006803 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum 169 PRKCSH. ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding ovary(1) 1 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) TCGTCTTAAACGCTACCACAG 0.562000 TSFM 10102 broad.mit.edu 37 12 58176625 58176625 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr12:58176625G>A uc001sqi.2 + 1 90 c.41G>A c.(40-42)CGG>CAG p.R14Q TSFM_uc010sse.1_5'UTR|TSFM_uc001sqh.2_Missense_Mutation_p.R14Q|TSFM_uc010ssf.1_Missense_Mutation_p.R14Q NM_005726 NP_005717 P43897 EFTS_HUMAN Ts translation elongation factor, mitochondrial 14 regulation of transcription elongation, DNA-dependent mitochondrion|nucleus translation elongation factor activity 0 all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) CTGGTCGCGCGGACCGGGAGC 0.642000 OREG0021954 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) IRAK3 11213 broad.mit.edu 37 12 66638317 66638317 + Silent SNP C C G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr12:66638317C>G uc001sth.2 + 9 1041 c.939C>G c.(937-939)GCC>GCG p.A313A IRAK3_uc010ssy.1_Silent_p.A252A NM_007199 NP_009130 Q9Y616 IRAK3_HUMAN interleukin-1 receptor-associated kinase 3 313 Protein kinase. interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity lung(3)|ovary(2)|breast(2)|central_nervous_system(1) 8 GBM - Glioblastoma multiforme(28;0.0203) CTGATTTTGCCATGGCACACT 0.408000 NCOR2 9612 broad.mit.edu 37 12 124827739 124827739 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr12:124827739C>T uc010tba.1 - 33 4889 c.4772G>A c.(4771-4773)CGA>CAA p.R1591Q NCOR2_uc010tay.1_Missense_Mutation_p.R1590Q|NCOR2_uc010taz.1_Missense_Mutation_p.R1574Q|NCOR2_uc010tbb.1_Missense_Mutation_p.R1583Q|NCOR2_uc010tbc.1_Missense_Mutation_p.R1573Q NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 1591 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CGTCAGCTTTCGGTCCTGGGA 0.632000 POLE 5426 broad.mit.edu 37 12 133209266 133209266 + Silent SNP C C G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr12:133209266C>G uc001uks.1 - 44 6164 c.6120G>C c.(6118-6120)GCG>GCC p.A2040A POLE_uc001ukq.1_Silent_p.A250A|POLE_uc001ukr.1_Silent_p.A844A|POLE_uc010tbq.1_RNA NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 2040 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GGGCTCCGACCGCCCCCTCGG 0.657000 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage SGCG 6445 broad.mit.edu 37 13 23824841 23824841 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr13:23824841G>A uc001uom.2 + 4 525 c.370G>A c.(370-372)GGC>AGC p.G124S SGCG_uc009zzv.2_Missense_Mutation_p.G124S|SGCG_uc009zzw.2_Missense_Mutation_p.G124S NM_000231 NP_000222 Q13326 SGCG_HUMAN gamma sarcoglycan 124 Extracellular (Potential). cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma 0 all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188) all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205) GGAGGTCACAGGCAGGTTAAA 0.403000 B3GALTL 145173 broad.mit.edu 37 13 31891748 31891748 + Silent SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr13:31891748G>A uc010aaz.2 + 13 1220 c.1110G>A c.(1108-1110)GAG>GAA p.E370E B3GALTL_uc001utn.3_RNA NM_194318 NP_919299 Q6Y288 B3GLT_HUMAN beta 1,3-galactosyltransferase-like 370 Lumenal (Potential). fucose metabolic process endoplasmic reticulum membrane|integral to membrane transferase activity, transferring glycosyl groups ovary(2) 2 Lung SC(185;0.0257) all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184) ACTCCGGCGAGCCTGTGTTTC 0.507000 COG6 57511 broad.mit.edu 37 13 40251606 40251606 + Nonsense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr13:40251606C>T uc001uxh.2 + 5 530 c.430C>T c.(430-432)CAA>TAA p.Q144* COG6_uc001uxi.2_Nonsense_Mutation_p.Q92*|COG6_uc010acb.2_Nonsense_Mutation_p.Q144* NM_020751 NP_065802 Q9Y2V7 COG6_HUMAN component of oligomeric golgi complex 6 isoform 144 protein transport Golgi membrane|Golgi transport complex kidney(1)|skin(1) 2 Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168) AAATTACAGCCAAAAATTAGA 0.333000 PCDH20 64881 broad.mit.edu 37 13 61987362 61987362 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr13:61987362G>C uc001vid.3 - 2 1234 c.870C>G c.(868-870)ATC>ATG p.I290M PCDH20_uc010thj.1_Missense_Mutation_p.I290M NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 263 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) CCTCAGCTATGATGATGCTCA 0.527000 SLC7A8 23428 broad.mit.edu 37 14 23652065 23652065 + Missense_Mutation SNP T T A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr14:23652065T>A uc001wiz.2 - 1 785 c.59A>T c.(58-60)GAG>GTG p.E20V SLC7A8_uc010akj.2_Missense_Mutation_p.E20V NM_012244 NP_036376 Q9UHI5 LAT2_HUMAN solute carrier family 7 (cationic amino acid 20 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity ovary(1) 1 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) GGCGTCCGACTCGCCCCCACC 0.572000 CMTM5 116173 broad.mit.edu 37 14 23848585 23848585 + Silent SNP C C G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr14:23848585C>G uc010akm.2 + 5 1095 c.651C>G c.(649-651)GCC>GCG p.A217A CMTM5_uc001wjs.2_Silent_p.A150A|CMTM5_uc001wjt.2_Silent_p.A119A|CMTM5_uc010akn.2_Silent_p.A112A|CMTM5_uc001wju.2_Silent_p.A99A|CMTM5_uc010ako.2_RNA NM_138460 NP_612469 Q96DZ9 CKLF5_HUMAN chemokine-like factor superfamily 5 isoform a 217 chemotaxis extracellular space|integral to membrane cytokine activity 0 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382) CACCCGGGGCCAGCCAGGGTG 0.587000 G2E3 55632 broad.mit.edu 37 14 31071327 31071327 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr14:31071327G>C uc001wqk.2 + 10 1154 c.1000G>C c.(1000-1002)GAT>CAT p.D334H G2E3_uc010tpe.1_Missense_Mutation_p.D249H|G2E3_uc010tpf.1_Missense_Mutation_p.D288H NM_017769 NP_060239 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin ligase 334 apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 CCAGAGTAAAGATCTACTGAG 0.328000 PSMC1 5700 broad.mit.edu 37 14 90735757 90735757 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr14:90735757G>A uc001xyf.2 + 9 946 c.898G>A c.(898-900)GGT>AGT p.G300S PSMC1_uc001xyg.2_Missense_Mutation_p.G227S|PSMC1_uc001xyh.2_Missense_Mutation_p.G227S NM_002802 NP_002793 P62191 PRS4_HUMAN proteasome 26S ATPase subunit 1 300 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding 0 all_cancers(154;0.142) COAD - Colon adenocarcinoma(157;0.21) CTCCAATTCTGGTGGTGAGAG 0.428000 UBE3A 7337 broad.mit.edu 37 15 25616254 25616254 + Missense_Mutation SNP C C T rs140204238 TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr15:25616254C>T uc001zaq.2 - 4 1076 c.1076G>A c.(1075-1077)CGA>CAA p.R359Q uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.R336Q|UBE3A_uc001zas.2_Missense_Mutation_p.R356Q|UBE3A_uc001zat.2_Missense_Mutation_p.R336Q NM_000462 NP_000453 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A isoform 2 359 R -> RNLVNEFNSR (in Ref. 7; AA sequence). brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) CACTAGATTTCGACTGTTAAA 0.383000 IVD 3712 broad.mit.edu 37 15 40703835 40703835 + Missense_Mutation SNP C C G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr15:40703835C>G uc001zls.3 + 6 975 c.641C>G c.(640-642)ACA>AGA p.T214R IVD_uc001zlq.2_Missense_Mutation_p.T184R NM_002225 NP_002216 P26440 IVD_HUMAN isovaleryl Coenzyme A dehydrogenase isoform 1 211 leucine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity ovary(1) 1 all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808) TATGCCAAGACAGATCTGGCT 0.537000 BAHD1 22893 broad.mit.edu 37 15 40751171 40751171 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr15:40751171C>T uc001zlu.2 + 2 579 c.508C>T c.(508-510)CGG>TGG p.R170W BAHD1_uc001zlt.2_Missense_Mutation_p.R170W|BAHD1_uc010bbp.1_Missense_Mutation_p.R170W|BAHD1_uc001zlv.2_Missense_Mutation_p.R170W NM_014952 NP_055767 Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 170 heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding 0 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) CTCCAAGAAGCGGCCCCGGCT 0.687000 SPG11 80208 broad.mit.edu 37 15 44888535 44888535 + Missense_Mutation SNP A A C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr15:44888535A>C uc001ztx.2 - 25 4211 c.4180T>G c.(4180-4182)TAC>GAC p.Y1394D SPG11_uc010ueh.1_Missense_Mutation_p.Y1394D|SPG11_uc010uei.1_Missense_Mutation_p.Y1394D|SPG11_uc001zty.1_Missense_Mutation_p.Y123D NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 1394 Cytoplasmic (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) GGGCTGAAGTACTGGATAAGG 0.438000 CACNA1H 8912 broad.mit.edu 37 16 1245993 1245993 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr16:1245993C>T uc002cks.2 + 5 861 c.613C>T c.(613-615)CGG>TGG p.R205W CACNA1H_uc002ckt.2_Missense_Mutation_p.R205W NM_021098 NP_066921 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, 205 Helical; Name=S4 of repeat I; (Potential).|I. aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(2) 2 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GCGGGTGCTGCGGCCCCTCCG 0.657000 A2BP1 54715 broad.mit.edu 37 16 7568355 7568355 + Silent SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr16:7568355G>A uc002cys.2 + 5 1222 c.234G>A c.(232-234)GCG>GCA p.A78A A2BP1_uc010buf.1_Silent_p.A78A|A2BP1_uc002cyr.1_Silent_p.A78A|A2BP1_uc002cyt.2_Silent_p.A78A|A2BP1_uc010uxz.1_Silent_p.A121A|A2BP1_uc010uya.1_Silent_p.A114A|A2BP1_uc002cyv.1_Silent_p.A78A|A2BP1_uc010uyb.1_Silent_p.A78A|A2BP1_uc002cyw.2_Silent_p.A98A|A2BP1_uc002cyy.2_Silent_p.A98A|A2BP1_uc002cyx.2_Silent_p.A98A|A2BP1_uc010uyc.1_Silent_p.A98A NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 78 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) AGAGCCCGGCGGACACGAGCG 0.652000 ARHGAP17 55114 broad.mit.edu 37 16 24942523 24942523 + Silent SNP C C A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr16:24942523C>A uc002dnb.2 - 19 2190 c.2097G>T c.(2095-2097)CGG>CGT p.R699R ARHGAP17_uc002dmx.2_5'UTR|ARHGAP17_uc002dmw.2_5'UTR|ARHGAP17_uc002dmy.2_Silent_p.R144R|ARHGAP17_uc002dmz.2_Silent_p.R223R|ARHGAP17_uc002dna.2_Silent_p.R426R|ARHGAP17_uc002dnc.2_Silent_p.R621R|ARHGAP17_uc010vcf.1_Silent_p.R442R|ARHGAP17_uc002dne.1_5'UTR NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN nadrin isoform 1 699 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding 0 GBM - Glioblastoma multiforme(48;0.0407) TGGAGTACCTCCGGGGTGCTG 0.667000 MT1M 4499 broad.mit.edu 37 16 56667294 56667294 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr16:56667294G>A uc002ejn.2 + 2 181 c.71G>A c.(70-72)TGC>TAC p.C24Y MT1A_uc002eji.2_Intron|MT1M_uc010vhe.1_RNA|uc002ejo.1_5'Flank|uc002ejp.1_5'Flank NM_176870 NP_789846 Q8N339 MT1M_HUMAN metallothionein 1M 24 Beta. Divalent metal cation; cluster B. metal ion binding ovary(1) 1 TGCAAAGAGTGCAAATGCACC 0.577000 CDH8 1006 broad.mit.edu 37 16 61687567 61687567 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr16:61687567C>T uc002eog.1 - 12 2597 c.2345G>A c.(2344-2346)CGC>CAC p.R782H NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 782 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TCTCTTAAAGCGGGGACCCCA 0.473000 PDPR 55066 broad.mit.edu 37 16 70190507 70190507 + Missense_Mutation SNP A A T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr16:70190507A>T uc002eyf.1 + 19 3322 c.2365A>T c.(2365-2367)ATT>TTT p.I789F CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.I689F|PDPR_uc002eyg.1_Missense_Mutation_p.I456F|PDPR_uc002eyh.2_Missense_Mutation_p.I134F|PDPR_uc010vls.1_Missense_Mutation_p.I134F NM_017990 NP_060460 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory 789 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.124) GGGAGAGCCCATTTACCGGAA 0.532000 CAMTA2 23125 broad.mit.edu 37 17 4873788 4873788 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr17:4873788G>A uc002gah.1 - 17 2960 c.2852C>T c.(2851-2853)CCG>CTG p.P951L SPAG7_uc002gae.2_5'Flank|SPAG7_uc002gaf.2_5'Flank|CAMTA2_uc010cku.1_Missense_Mutation_p.P974L|CAMTA2_uc002gag.1_Missense_Mutation_p.P950L|CAMTA2_uc002gai.1_Missense_Mutation_p.P953L|CAMTA2_uc010ckv.1_Missense_Mutation_p.P598L NM_015099 NP_055914 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 951 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding ovary(1) 1 AATCCGCTCCGGTGTGGCTTC 0.607000 DNAH2 146754 broad.mit.edu 37 17 7662770 7662770 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr17:7662770C>T uc002giu.1 + 15 2493 c.2479C>T c.(2479-2481)CGG>TGG p.R827W NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 827 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) GTACATGATTCGGCTGGACCG 0.522000 DNAH9 1770 broad.mit.edu 37 17 11774939 11774939 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr17:11774939G>A uc002gne.2 + 52 10146 c.10078G>A c.(10078-10080)GTG>ATG p.V3360M DNAH9_uc010coo.2_Missense_Mutation_p.V2654M NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 3360 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTCTGAAAACGTGAGGTGGGC 0.473000 NUFIP2 57532 broad.mit.edu 37 17 27614063 27614063 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr17:27614063C>T uc002hdy.3 - 2 1038 c.949G>A c.(949-951)GAT>AAT p.D317N NUFIP2_uc002hdx.3_Intron NM_020772 NP_065823 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein 317 nucleus|polysomal ribosome protein binding|RNA binding skin(2)|ovary(1)|breast(1) 4 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) TTGGGCCGATCATCAAACTTT 0.493000 KRT12 3859 broad.mit.edu 37 17 39023097 39023097 + Silent SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr17:39023097C>T uc002hvk.2 - 1 366 c.342G>A c.(340-342)TCG>TCA p.S114S NM_000223 NP_000214 Q99456 K1C12_HUMAN keratin 12 114 Head.|Gly-rich. visual perception intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) CATCATTGCCCGAGAGAATAC 0.512000 WNK4 65266 broad.mit.edu 37 17 40935985 40935985 + Silent SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr17:40935985G>A uc002ibj.2 + 3 843 c.822G>A c.(820-822)CCG>CCA p.P274P WNK4_uc010wgx.1_5'UTR|WNK4_uc002ibk.1_Silent_p.P46P|WNK4_uc010wgy.1_5'Flank NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 274 Protein kinase. intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) AGATGAAGCCGCGGGTCCTTC 0.652000 GFAP 2670 broad.mit.edu 37 17 42989090 42989090 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr17:42989090G>A uc002ihq.2 - 5 916 c.856C>T c.(856-858)CGG>TGG p.R286W GFAP_uc002ihr.2_Missense_Mutation_p.R286W|GFAP_uc010wjg.1_RNA NM_002055 NP_002046 P14136 GFAP_HUMAN glial fibrillary acidic protein isoform 1 286 Coil 2B.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton ovary(1)|pancreas(1) 2 Prostate(33;0.0959) AACTGGCGCCGGTAGTCGTTG 0.692000 FMNL1 752 broad.mit.edu 37 17 43320665 43320665 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr17:43320665C>T uc002iin.2 + 17 2391 c.2191C>T c.(2191-2193)CGC>TGC p.R731C FMNL1_uc002iiq.2_Missense_Mutation_p.R309C|FMNL1_uc010dag.2_RNA NM_005892 NP_005883 O95466 FMNL_HUMAN formin-like 1 731 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding pancreas(1) 1 GGGGGCCGAGCGCATCTGCCA 0.617000 ABCA10 10349 broad.mit.edu 37 17 67212089 67212089 + Missense_Mutation SNP C C G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr17:67212089C>G uc010dfa.1 - 9 1604 c.725G>C c.(724-726)GGT>GCT p.G242A ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_5'Flank|ABCA10_uc010dfc.1_Missense_Mutation_p.G134A NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 242 Helical; (Potential). transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) TCCAGCCAAACCAGCGAGCAT 0.383000 TMC8 147138 broad.mit.edu 37 17 76129507 76129507 + Silent SNP C C G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr17:76129507C>G uc002jup.2 + 6 934 c.552C>G c.(550-552)CTC>CTG p.L184L TMC6_uc002jul.1_5'Flank|TMC8_uc002juq.2_5'UTR|TMC8_uc010wtr.1_5'Flank NM_152468 NP_689681 Q8IU68 TMC8_HUMAN transmembrane channel-like 8 184 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192) ACACCTATCTCTTCTACGGTG 0.498000 Epidermodysplasia_Verruciformis_Familial_Clustering_of SOCS3 9021 broad.mit.edu 37 17 76354545 76354545 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr17:76354545G>A uc002jvl.2 - 2 1048 c.632C>T c.(631-633)CCG>CTG p.P211L NM_003955 NP_003946 O14543 SOCS3_HUMAN suppressor of cytokine signaling 3 211 SOCS box. anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol protein kinase inhibitor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554) AATGGGCCCCGGCAGCTGGGT 0.632000 MUC16 94025 broad.mit.edu 37 19 9087354 9087354 + Silent SNP A A G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr19:9087354A>G uc002mkp.2 - 1 4665 c.4461T>C c.(4459-4461)GCT>GCC p.A1487A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 1487 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTGGAAAAATAGCAAATGTAC 0.438000 FAM129C 199786 broad.mit.edu 37 19 17644500 17644500 + Silent SNP T T A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr19:17644500T>A uc010xpr.1 + 5 648 c.510T>A c.(508-510)CCT>CCA p.P170P FAM129C_uc010xpq.1_Silent_p.P170P|FAM129C_uc010xps.1_Silent_p.P139P|FAM129C_uc010xpt.1_RNA NM_173544 NP_775815 Q86XR2 NIBL2_HUMAN B-cell novel protein 1 isoform a 170 0 CTCTCTGCCCTGAATCCTTGG 0.393000 TMEM149 79713 broad.mit.edu 37 19 36231285 36231285 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr19:36231285C>T uc002obc.2 - 3 439 c.338G>A c.(337-339)AGA>AAA p.R113K TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Missense_Mutation_p.R113K|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Missense_Mutation_p.R193K NM_024660 NP_078936 Q9H665 IGFR1_HUMAN transmembrane protein 149 precursor 113 Extracellular (Potential). integral to membrane|plasma membrane protein binding|receptor activity 0 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTGCACCTCTCTGCAGCGCCA 0.731000 CYP2S1 29785 broad.mit.edu 37 19 41704707 41704707 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr19:41704707C>T uc002opw.2 + 5 803 c.748C>T c.(748-750)CGG>TGG p.R250W CYP2F1_uc010xvw.1_Intron|CYP2S1_uc010xvx.1_Intron NM_030622 NP_085125 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, 250 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity skin(1) 1 CTTCACAGTCCGGCAGGTGCA 0.642000 SPHK2 56848 broad.mit.edu 37 19 49132886 49132886 + Silent SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr19:49132886C>T uc002pjr.2 + 7 2187 c.1821C>T c.(1819-1821)GCC>GCT p.A607A SPHK2_uc010xzt.1_Silent_p.A548A|SPHK2_uc002pjs.2_Silent_p.A607A|SPHK2_uc002pjt.2_Silent_p.A401A|SPHK2_uc002pju.2_Intron|SPHK2_uc002pjv.2_Silent_p.A571A|SPHK2_uc002pjw.2_Silent_p.A669A NM_020126 NP_064511 Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 607 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity lung(1) 1 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) CGGCCCGTGCCTTCCGCCTAG 0.677000 ZNF677 342926 broad.mit.edu 37 19 53741803 53741803 + Silent SNP A A G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr19:53741803A>G uc002qbf.1 - 5 362 c.177T>C c.(175-177)TCT>TCC p.S59S ZNF677_uc002qbg.1_Silent_p.S59S NM_182609 NP_872415 Q86XU0 ZN677_HUMAN zinc finger protein 677 59 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00352) TAAATCCAACAGAAATATCTG 0.299000 PRKCG 5582 broad.mit.edu 37 19 54401213 54401213 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr19:54401213C>T uc002qcq.1 + 10 1222 c.940C>T c.(940-942)CGG>TGG p.R314W PRKCG_uc010yef.1_Silent_p.S284S|PRKCG_uc010yeg.1_Missense_Mutation_p.R314W|PRKCG_uc010yeh.1_Missense_Mutation_p.R201W NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 314 RVRM -> VSRT (in Ref. 3; AAA60102). activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CTTTCCACAGCGGGTGCGGAT 0.473000 PRPF31 26121 broad.mit.edu 37 19 54621676 54621676 + Silent SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr19:54621676G>A uc002qdh.2 + 2 414 c.18G>A c.(16-18)GAG>GAA p.E6E TFPT_uc010yej.1_5'Flank|TFPT_uc010erd.2_5'Flank|PRPF31_uc010yek.1_Silent_p.E6E NM_015629 NP_056444 Q8WWY3 PRP31_HUMAN pre-mRNA processing factor 31 homolog 6 assembly of spliceosomal tri-snRNP Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP RNA binding|snRNP binding ovary(1) 1 all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TGGCAGATGAGCTCTTAGCTG 0.323000 CNOT3 4849 broad.mit.edu 37 19 54657452 54657452 + Missense_Mutation SNP G G T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr19:54657452G>T uc002qdj.1 + 17 2349 c.2038G>T c.(2038-2040)GGC>TGC p.G680C CNOT3_uc010yel.1_Missense_Mutation_p.R707S|CNOT3_uc002qdi.2_Missense_Mutation_p.R591S|CNOT3_uc002qdk.1_Missense_Mutation_p.G680C|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_Missense_Mutation_p.G135C NM_014516 NP_055331 O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 680 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTCCCCCAGGGCACTAAGGC 0.627000 LILRB2 10288 broad.mit.edu 37 19 54778550 54778550 + Missense_Mutation SNP A A G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr19:54778550A>G uc002qfb.2 - 14 2050 c.1784T>C c.(1783-1785)CTG>CCG p.L595P LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_3'UTR|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.L594P|LILRB2_uc010yet.1_Missense_Mutation_p.L479P NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 595 ITIM motif 3.|Cytoplasmic (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTGGATGGCCAGGGTGGCGTA 0.612000 KIR3DL1 3811 broad.mit.edu 37 19 55329954 55329954 + Silent SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr19:55329954G>A uc002qhk.3 + 3 318 c.255G>A c.(253-255)GTG>GTA p.V85V KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Silent_p.V27V|KIR3DL1_uc010esf.2_Intron|KIR3DL1_uc010yfo.1_Silent_p.V27V|KIR3DL1_uc002qhl.3_Silent_p.V85V NM_013289 NP_037421 P43629 KI3L1_HUMAN killer cell immunoglobulin-like receptor, three 85 Extracellular (Potential).|Ig-like C2-type 1. immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) TGAGCCCTGTGACCACAGCAC 0.512000 AURKC 6795 broad.mit.edu 37 19 57746683 57746683 + Nonsense_Mutation SNP C C A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr19:57746683C>A uc002qoe.2 + 7 1017 c.828C>A c.(826-828)TAC>TAA p.Y276* AURKC_uc002qoc.2_Nonsense_Mutation_p.Y257*|AURKC_uc002qod.2_Nonsense_Mutation_p.Y242*|AURKC_uc010etv.2_Nonsense_Mutation_p.Y273* NM_001015878 NP_001015878 Q9UQB9 AURKC_HUMAN aurora kinase C isoform 1 276 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity lung(4)|ovary(2) 6 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) TTCTCAGATACCAGCCCTTGG 0.577000 ZSCAN18 65982 broad.mit.edu 37 19 58601477 58601477 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr19:58601477C>T uc002qri.2 - 2 467 c.158G>A c.(157-159)CGG>CAG p.R53Q ZSCAN18_uc002qrj.3_Missense_Mutation_p.R53Q|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.R53Q|ZSCAN18_uc010yht.1_Missense_Mutation_p.R109Q|ZSCAN18_uc002qrk.1_Missense_Mutation_p.R53Q|ZSCAN18_uc002qrl.2_Missense_Mutation_p.R53Q NM_001145543 NP_001139015 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 53 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GACAAATTCCCGGAAACGCAG 0.677000 CPSF3 51692 broad.mit.edu 37 2 9580739 9580739 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr2:9580739C>T uc002qzo.1 + 8 915 c.880C>T c.(880-882)CGC>TGC p.R294C CPSF3_uc010ewx.1_Missense_Mutation_p.R294C|CPSF3_uc002qzp.1_Missense_Mutation_p.R257C NM_016207 NP_057291 Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 294 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding breast(2) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) TGACAAAATCCGCAAACAGAT 0.383000 CLIP4 79745 broad.mit.edu 37 2 29383251 29383251 + Missense_Mutation SNP A A T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr2:29383251A>T uc002rmv.2 + 12 1691 c.1452A>T c.(1450-1452)GAA>GAT p.E484D CLIP4_uc002rmu.2_Missense_Mutation_p.E484D|CLIP4_uc010ezm.1_Missense_Mutation_p.E484D|CLIP4_uc002rmw.2_RNA NM_024692 NP_078968 Q8N3C7 CLIP4_HUMAN CAP-GLY domain containing linker protein family, 484 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) GCGAGGGGGAACTCCGCCTCG 0.498000 MAL 4118 broad.mit.edu 37 2 95713846 95713846 + Missense_Mutation SNP G G T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr2:95713846G>T uc002stx.1 + 2 295 c.236G>T c.(235-237)GGT>GTT p.G79V MAL_uc002sty.1_Intron|MAL_uc002stz.1_Missense_Mutation_p.G79V|MAL_uc002sua.1_Intron NM_002371 NP_002362 P21145 MAL_HUMAN T-lymphocyte maturation-associated protein 79 Cytoplasmic (Potential).|MARVEL. apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath 0 STAD - Stomach adenocarcinoma(1183;0.18) GGAGCCCACGGTGGAGAGACT 0.617000 ZNF2 7549 broad.mit.edu 37 2 95847608 95847608 + Silent SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr2:95847608C>T uc002suf.2 + 6 1494 c.1032C>T c.(1030-1032)AAC>AAT p.N344N ZNF2_uc002sug.2_Silent_p.N302N|ZNF2_uc010yue.1_Silent_p.N307N|ZNF2_uc010fhs.2_Silent_p.N265N NM_021088 NP_066574 Q9BSG1 ZNF2_HUMAN zinc finger protein 2 isoform a 344 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(717;0.00768) READ - Rectum adenocarcinoma(193;0.0222) ATCAGTGTAACGAGTGTGGCA 0.493000 MBD5 55777 broad.mit.edu 37 2 149240903 149240903 + Missense_Mutation SNP A A T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr2:149240903A>T uc002twm.3 + 10 3731 c.2743A>T c.(2743-2745)AAC>TAC p.N915Y MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.N915Y|MBD5_uc002two.2_5'Flank|MBD5_uc002twp.2_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 915 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) ACACCCCTTGAACCCCAGCCT 0.468000 SCN1A 6323 broad.mit.edu 37 2 166848344 166848344 + Missense_Mutation SNP T T G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr2:166848344T>G uc010zcz.1 - 26 5426 c.5408A>C c.(5407-5409)AAG>ACG p.K1803T NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1814 IV. WEKF -> C (in SMEI). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGGATCAAACTTCTCCCAAAC 0.453000 HOXD4 3233 broad.mit.edu 37 2 177017437 177017437 + Missense_Mutation SNP C C G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr2:177017437C>G uc002uks.2 + 2 784 c.535C>G c.(535-537)CTG>GTG p.L179V NM_014621 NP_055436 P09016 HXD4_HUMAN homeobox D4 179 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) TAACAGGTATCTGACAAGGCG 0.527000 CASP8 841 broad.mit.edu 37 2 202151266 202151266 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr2:202151266G>C uc002uxr.1 + 10 1598 c.1389G>C c.(1387-1389)ATG>ATC p.M463I CASP8_uc002uxp.1_Missense_Mutation_p.M480I|CASP8_uc002uxq.1_Missense_Mutation_p.M448I|CASP8_uc002uxt.1_Missense_Mutation_p.M522I|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Missense_Mutation_p.M448I|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Missense_Mutation_p.M379I NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 463 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 GGAAACAGATGCCTCAGCCTA 0.318000 HNSCC(4;0.00038) COL6A3 1293 broad.mit.edu 37 2 238249128 238249128 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr2:238249128G>A uc002vwl.2 - 38 8716 c.8431C>T c.(8431-8433)CGC>TGC p.R2811C COL6A3_uc002vwo.2_Missense_Mutation_p.R2605C|COL6A3_uc010znj.1_Missense_Mutation_p.R2204C|COL6A3_uc002vwj.2_Missense_Mutation_p.R192C NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2811 VWFA 12.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTCCCGAAGCGCATCAAAGGC 0.552000 INSM1 3642 broad.mit.edu 37 20 20350144 20350144 + Silent SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr20:20350144C>T uc002wrx.2 + 1 1380 c.1233C>T c.(1231-1233)TAC>TAT p.Y411Y NM_002196 NP_002187 Q01101 INSM1_HUMAN insulinoma-associated 1 411 endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0649) TGGCCTTGTACCCCGGGCCCG 0.761000 GGTLC1 92086 broad.mit.edu 37 20 23967200 23967200 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr20:23967200C>T uc002wts.2 - 2 182 c.49G>A c.(49-51)GAC>AAC p.D17N GGTLC1_uc002wtu.2_Missense_Mutation_p.D17N NM_178312 NP_842564 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 17 gamma-glutamyltransferase activity ovary(1) 1 TGAGTGGTGTCGTCAGAGATC 0.637000 EPB41L1 2036 broad.mit.edu 37 20 34775685 34775685 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr20:34775685G>C uc002xfb.2 + 8 1044 c.873G>C c.(871-873)AAG>AAC p.K291N EPB41L1_uc002xeu.2_Missense_Mutation_p.K229N|EPB41L1_uc010zvo.1_Missense_Mutation_p.K291N|EPB41L1_uc002xev.2_Missense_Mutation_p.K291N|EPB41L1_uc002xew.2_Missense_Mutation_p.K194N|EPB41L1_uc002xex.2_Missense_Mutation_p.K260N|EPB41L1_uc002xey.2_Missense_Mutation_p.K218N|EPB41L1_uc002xez.2_Missense_Mutation_p.K229N NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 291 FERM. cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity ovary(2)|pancreas(1) 3 Breast(12;0.0239) ACCATGCCAAGGTACCACCAG 0.537000 PCIF1 63935 broad.mit.edu 37 20 44574499 44574499 + Missense_Mutation SNP A A T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr20:44574499A>T uc002xqs.2 + 12 1632 c.1318A>T c.(1318-1320)AGC>TGC p.S440C PCIF1_uc002xqt.2_Missense_Mutation_p.S20C|PCIF1_uc002xqu.2_5'Flank NM_022104 NP_071387 Q9H4Z3 PCIF1_HUMAN phosphorylated CTD interacting factor 1 440 nucleus skin(1) 1 GGTCAAGGTCAGCCGCAACTA 0.587000 SLCO4A1 28231 broad.mit.edu 37 20 61287965 61287965 + Silent SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr20:61287965C>T uc002ydb.1 + 2 364 c.159C>T c.(157-159)GAC>GAT p.D53D SLCO4A1_uc002ydc.1_RNA NM_016354 NP_057438 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family 53 Cytoplasmic (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(1) 1 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) GCCCCCTGGACACCAGCAAGC 0.716000 DIDO1 11083 broad.mit.edu 37 20 61542173 61542173 + Silent SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr20:61542173G>A uc002ydr.1 - 3 1056 c.792C>T c.(790-792)TAC>TAT p.Y264Y DIDO1_uc002yds.1_Silent_p.Y264Y|DIDO1_uc002ydt.1_Silent_p.Y264Y|DIDO1_uc002ydu.1_Silent_p.Y264Y|DIDO1_uc002ydv.1_Silent_p.Y264Y|DIDO1_uc002ydw.1_Silent_p.Y264Y|DIDO1_uc002ydx.1_Silent_p.Y264Y|DIDO1_uc011aao.1_Silent_p.Y264Y NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 264 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) CGTTGGGGTCGTAACCCTCAC 0.537000 ARVCF 421 broad.mit.edu 37 22 19967604 19967604 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr22:19967604G>A uc002zqz.2 - 6 1329 c.1058C>T c.(1057-1059)CCG>CTG p.P353L ARVCF_uc002zqy.2_5'Flank|ARVCF_uc002zra.2_3'UTR NM_001670 NP_001661 O00192 ARVC_HUMAN armadillo repeat protein 353 ARM 1. cell adhesion|multicellular organismal development protein binding liver(1) 1 Colorectal(54;0.0993) CCGCCAGCGCGGCTCCTTGCG 0.721000 EFCAB6 64800 broad.mit.edu 37 22 43933323 43933323 + Missense_Mutation SNP G G T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr22:43933323G>T uc003bdy.1 - 29 4197 c.3982C>A c.(3982-3984)CTC>ATC p.L1328I EFCAB6_uc003bdz.1_Missense_Mutation_p.L1176I|EFCAB6_uc010gzi.1_Missense_Mutation_p.L1176I NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 1328 Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) TCTTTCAGGAGCTGGCGCCAG 0.567000 GNL3 26354 broad.mit.edu 37 3 52725622 52725622 + Silent SNP T T G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr3:52725622T>G uc003dfd.2 + 9 1019 c.846T>G c.(844-846)GTT>GTG p.V282V GNL3_uc003dfe.2_Silent_p.V270V|GNL3_uc003dff.2_Silent_p.V270V|SNORD69_uc003dfh.1_5'Flank NM_014366 NP_055181 Q9BVP2 GNL3_HUMAN guanine nucleotide binding protein-like 3 282 G.|Intermediate (By similarity). regulation of cell proliferation nucleolus GTP binding|protein binding 0 BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048) TGTGTAATGTTGGTGTATCCA 0.338000 CEP63 80254 broad.mit.edu 37 3 134276999 134276999 + Missense_Mutation SNP C C G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr3:134276999C>G uc003eqo.1 + 14 1932 c.1483C>G c.(1483-1485)CTA>GTA p.L495V CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron NM_025180 NP_079456 Q96MT8 CEP63_HUMAN centrosomal protein 63 isoform a 495 Potential. cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding ovary(1) 1 AGAGATTTCACTAGCAGACCT 0.338000 KIAA1109 84162 broad.mit.edu 37 4 123161241 123161241 + Silent SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr4:123161241G>A uc003ieh.2 + 27 4449 c.4404G>A c.(4402-4404)GCG>GCA p.A1468A KIAA1109_uc003iei.1_Silent_p.A1221A|KIAA1109_uc010ins.1_Silent_p.A811A|KIAA1109_uc003iek.2_Silent_p.A87A NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1468 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TTGTTTCTGCGTTAGGTGGAG 0.418000 PCDH10 57575 broad.mit.edu 37 4 134072398 134072398 + Missense_Mutation SNP G G T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr4:134072398G>T uc003iha.2 + 1 1929 c.1103G>T c.(1102-1104)AGT>ATT p.S368I uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.S368I NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 368 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GAAGCGGTGAGTGAGGGCGCG 0.627000 INPP4B 8821 broad.mit.edu 37 4 143007328 143007328 + Missense_Mutation SNP T T A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr4:143007328T>A uc003iix.3 - 25 3051 c.2456A>T c.(2455-2457)AAG>ATG p.K819M INPP4B_uc003iiw.3_Missense_Mutation_p.K819M|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.K634M|INPP4B_uc011cho.1_RNA NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 819 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) TTCTACATTCTTTCTTTTTTT 0.333000 FGG 2266 broad.mit.edu 37 4 155533323 155533323 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr4:155533323C>T uc003ioj.2 - 3 295 c.154G>A c.(154-156)GCA>ACA p.A52T FGG_uc003iog.2_Missense_Mutation_p.A52T|FGG_uc003ioh.2_Missense_Mutation_p.A52T|FGG_uc010ipx.2_5'UTR|FGG_uc010ipy.2_Intron|FGG_uc003ioi.2_5'Flank|FGG_uc003iok.2_Missense_Mutation_p.A52T NM_021870 NP_068656 P02679 FIBG_HUMAN fibrinogen, gamma chain isoform gamma-B 52 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding 0 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) AGGAAATCTGCAATGCCACAG 0.328000 CDH9 1007 broad.mit.edu 37 5 26988325 26988325 + Missense_Mutation SNP C C A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr5:26988325C>A uc003jgs.1 - 2 285 c.116G>T c.(115-117)GGT>GTT p.G39V CDH9_uc010iug.2_Missense_Mutation_p.G39V NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 39 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 TTTTGTCAGACCCGCTATCTT 0.393000 NUP155 9631 broad.mit.edu 37 5 37333694 37333694 + Silent SNP C C T rs142662644 byFrequency TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr5:37333694C>T uc003jku.1 - 13 1507 c.1389G>A c.(1387-1389)GCG>GCA p.A463A NUP155_uc003jkt.1_Silent_p.A404A|NUP155_uc010iuz.1_Silent_p.A463A NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 463 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATTCATCTATCGCAGAAAGAG 0.328000 OXCT1 5019 broad.mit.edu 37 5 41862794 41862794 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr5:41862794G>A uc003jmn.2 - 2 468 c.137C>T c.(136-138)CCA>CTA p.P46L NM_000436 NP_000427 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 precursor 46 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity ovary(2)|large_intestine(1) 3 Succinic acid(DB00139) AGCTTCTACTGGATCTGTATA 0.358000 PCDHA10 56139 broad.mit.edu 37 5 140237313 140237313 + Silent SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr5:140237313C>T uc003lhx.2 + 1 1680 c.1680C>T c.(1678-1680)AAC>AAT p.N560N PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Silent_p.N560N NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 560 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAACGACAACGCTCCCGCGC 0.682000 PCDHB2 56133 broad.mit.edu 37 5 140474846 140474846 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr5:140474846C>T uc003lil.2 + 1 610 c.472C>T c.(472-474)CGT>TGT p.R158C PCDHB2_uc003lim.1_Translation_Start_Site NM_018936 NP_061759 Q9Y5E7 PCDB2_HUMAN protocadherin beta 2 precursor 158 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(3)|upper_aerodigestive_tract(2)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTTAATAGAACGTGCCCAGGA 0.383000 PRSS16 10279 broad.mit.edu 37 6 27215755 27215755 + Silent SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr6:27215755C>T uc003nja.2 + 2 177 c.165C>T c.(163-165)GCC>GCT p.A55A PRSS16_uc011dkt.1_RNA|PRSS16_uc003njb.2_Silent_p.A55A|PRSS16_uc010jqq.1_5'Flank|PRSS16_uc010jqr.1_5'Flank|PRSS16_uc003njc.1_5'Flank NM_005865 NP_005856 Q9NQE7 TSSP_HUMAN protease, serine, 16 precursor 55 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity ovary(2)|central_nervous_system(2)|skin(1) 5 GTGCTGCAGCCCTCCCAAAAG 0.637000 OR2B3 442184 broad.mit.edu 37 6 29054811 29054811 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr6:29054811C>T uc003nlx.2 - 1 280 c.215G>A c.(214-216)TGC>TAC p.C72Y NM_001005226 NP_001005226 olfactory receptor, family 2, subfamily B, skin(1) 1 TGTGGTATAGCAGAGATCTAA 0.423000 LRFN2 57497 broad.mit.edu 37 6 40359728 40359728 + Missense_Mutation SNP C C T rs146316351 byFrequency TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr6:40359728C>T uc003oph.1 - 3 2789 c.2324G>A c.(2323-2325)CGG>CAG p.R775Q NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 775 Cytoplasmic (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) AAAAGTCCCCCGGGCCCCCAC 0.607000 MRPS10 55173 broad.mit.edu 37 6 42185576 42185576 + Silent SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr6:42185576C>T uc003osa.3 - 1 58 c.12G>A c.(10-12)CGG>CGA p.R4R MRPS10_uc011dup.1_5'UTR NM_018141 NP_060611 P82664 RT10_HUMAN mitochondrial ribosomal protein S10 4 translation actin cytoskeleton|mitochondrion|ribosome structural constituent of ribosome 0 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528) CGAACGCTGTCCGCGCCGCCA 0.592000 EYS 346007 broad.mit.edu 37 6 66204885 66204885 + Missense_Mutation SNP C C A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr6:66204885C>A uc011dxu.1 - 4 957 c.419G>T c.(418-420)TGG>TTG p.W140L EYS_uc003peq.2_Missense_Mutation_p.W140L|EYS_uc003per.1_Missense_Mutation_p.W140L|EYS_uc010kaj.1_RNA NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 140 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 AACACTCAGCCACTTAGAATT 0.423000 RIMS1 22999 broad.mit.edu 37 6 72984077 72984077 + Missense_Mutation SNP A A T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr6:72984077A>T uc003pga.2 + 23 3501 c.3424A>T c.(3424-3426)AGG>TGG p.R1142W RIMS1_uc011dyb.1_Intron|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Intron|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgf.2_Intron|RIMS1_uc003pgg.2_Missense_Mutation_p.R295W|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Intron|RIMS1_uc003pge.2_Intron|RIMS1_uc011dye.1_Intron|RIMS1_uc011dyf.1_Intron NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1142 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) CTCCCTAGATAGGAGACGACC 0.463000 OPRM1 4988 broad.mit.edu 37 6 154439830 154439830 + Nonsense_Mutation SNP G G T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr6:154439830G>T uc003qpr.2 + 4 1414 c.1177G>T c.(1177-1179)GAA>TAA p.E393* OPRM1_uc011efc.1_Nonsense_Mutation_p.E312*|OPRM1_uc011efd.1_Nonsense_Mutation_p.E293*|OPRM1_uc011efe.1_Nonsense_Mutation_p.E486*|OPRM1_uc003qpt.1_Intron|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Nonsense_Mutation_p.E293* NM_000914 NP_000905 P35372 OPRM_HUMAN opioid receptor, mu 1 isoform MOR-1 393 Cytoplasmic (Potential). behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding ovary(1) 1 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) AGAAAATCTGGAAGCAGAAAC 0.458000 NUPL2 11097 broad.mit.edu 37 7 23221774 23221774 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr7:23221774G>C uc003svu.2 + 1 329 c.70G>C c.(70-72)GGT>CGT p.G24R NUPL2_uc003svv.2_RNA|NUPL2_uc003svw.2_5'UTR|NUPL2_uc011jyw.1_RNA|NUPL2_uc003svx.2_5'UTR NM_007342 NP_031368 O15504 NUPL2_HUMAN nucleoporin like 2 24 C3H1-type. carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding skin(2)|ovary(1) 3 CGAACATCCCGGTGCTAGGGG 0.627000 OSBPL3 26031 broad.mit.edu 37 7 24905023 24905023 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr7:24905023C>T uc003sxf.2 - 7 1016 c.611G>A c.(610-612)GGT>GAT p.G204D OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.G204D|OSBPL3_uc003sxh.2_Missense_Mutation_p.G204D|OSBPL3_uc003sxi.2_Missense_Mutation_p.G204D NM_015550 NP_056365 Q9H4L5 OSBL3_HUMAN oxysterol-binding protein-like protein 3 isoform 204 lipid transport lipid binding|protein binding skin(1) 1 TGTCTCACCACCACAAGAAAA 0.403000 POM121L12 285877 broad.mit.edu 37 7 53103907 53103907 + Silent SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr7:53103907G>A uc003tpz.2 + 1 559 c.543G>A c.(541-543)GCG>GCA p.A181A NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 181 0 TGCTGGGGGCGCTCAGCCAGT 0.582000 POM121 9883 broad.mit.edu 37 7 72399003 72399003 + Missense_Mutation SNP A A T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr7:72399003A>T uc003twk.2 + 4 1103 c.1103A>T c.(1102-1104)AAG>ATG p.K368M POM121_uc003twj.2_Missense_Mutation_p.K103M|POM121_uc010lam.1_Missense_Mutation_p.K103M NM_172020 NP_742017 Q96HA1 P121A_HUMAN nuclear pore membrane protein 121 368 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore 0 Lung NSC(55;0.163) TTTGTGCCTAAGTAAGTGGGA 0.468000 CDK14 5218 broad.mit.edu 37 7 90419944 90419944 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr7:90419944C>T uc003uky.2 + 5 743 c.521C>T c.(520-522)ACA>ATA p.T174I CDK14_uc003ukt.1_Missense_Mutation_p.T128I|CDK14_uc003ukv.1_Missense_Mutation_p.T128I|CDK14_uc003uku.1_Missense_Mutation_p.T128I|CDK14_uc003ukx.1_RNA|CDK14_uc003ukz.1_Missense_Mutation_p.T156I|CDK14_uc010les.1_Missense_Mutation_p.T128I|CDK14_uc011khl.1_Missense_Mutation_p.T45I NM_012395 NP_036527 O94921 CDK14_HUMAN PFTAIRE protein kinase 1 174 Protein kinase. cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity lung(3)|ovary(1) 4 GAAGAAGGGACACCTTTCACA 0.408000 FZD1 8321 broad.mit.edu 37 7 90896065 90896065 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr7:90896065G>A uc003ula.2 + 1 2283 c.1870G>A c.(1870-1872)GGC>AGC p.G624S NM_003505 NP_003496 Q9UP38 FZD1_HUMAN frizzled 1 precursor 624 Cytoplasmic (Potential). autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding 0 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) GATCTGGTCCGGCAAGACCCT 0.597000 FLNC 2318 broad.mit.edu 37 7 128487899 128487899 + Silent SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr7:128487899G>C uc003vnz.3 + 25 4646 c.4437G>C c.(4435-4437)GTG>GTC p.V1479V FLNC_uc003voa.3_Silent_p.V1479V NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1479 Filamin 13. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CCCTGCAGGTGGCTGTGCTGG 0.697000 KRBA1 84626 broad.mit.edu 37 7 149430833 149430833 + Silent SNP T T A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr7:149430833T>A uc003wfz.2 + 18 3189 c.2790T>A c.(2788-2790)TCT>TCA p.S930S KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Silent_p.S537S NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 930 Pro-rich. ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ACTGCAGCTCTTCCCAGCAGC 0.692000 GIMAP1 170575 broad.mit.edu 37 7 150417616 150417616 + Missense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr7:150417616G>A uc003whq.2 + 3 611 c.524G>A c.(523-525)CGC>CAC p.R175H GIMAP1_uc003whp.2_Missense_Mutation_p.R183H NM_130759 NP_570115 Q8WWP7 GIMA1_HUMAN GTPase, IMAP family member 1 175 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane GTP binding ovary(1)|breast(1)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGGGCCTTGCGCGAGCTGGTG 0.652000 ST18 9705 broad.mit.edu 37 8 53073962 53073962 + Missense_Mutation SNP C C T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr8:53073962C>T uc003xqz.2 - 9 1723 c.1567G>A c.(1567-1569)GGA>AGA p.G523R ST18_uc011ldq.1_Missense_Mutation_p.G170R|ST18_uc011ldr.1_Missense_Mutation_p.G488R|ST18_uc011lds.1_Missense_Mutation_p.G428R|ST18_uc003xra.2_Missense_Mutation_p.G523R|ST18_uc003xrb.2_Missense_Mutation_p.G523R NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 523 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GTTTTTCGTCCTTGCACTGTT 0.428000 C8orf34 116328 broad.mit.edu 37 8 69434170 69434170 + Nonsense_Mutation SNP G G A TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr8:69434170G>A uc010lyz.2 + 6 693 c.644G>A c.(643-645)TGG>TAG p.W215* C8orf34_uc010lyy.1_Nonsense_Mutation_p.W215*|C8orf34_uc003xyb.2_Nonsense_Mutation_p.W190* NM_052958 NP_443190 Q49A92 CH034_HUMAN hypothetical protein LOC116328 215 signal transduction cAMP-dependent protein kinase regulator activity large_intestine(1) 1 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) AATGACCAATGGGAAAGTGAA 0.418000 ZNF704 619279 broad.mit.edu 37 8 81605248 81605248 + Missense_Mutation SNP G G A rs148333158 TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr8:81605248G>A uc003yby.1 - 3 548 c.316C>T c.(316-318)CGG>TGG p.R106W NM_001033723 NP_001028895 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 106 intracellular zinc ion binding 0 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) CCGTTCGGCCGCACGGGAGGA 0.522000 ZFPM2 23414 broad.mit.edu 37 8 106814853 106814853 + Missense_Mutation SNP A A G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr8:106814853A>G uc003ymd.2 + 8 2566 c.2543A>G c.(2542-2544)AAA>AGA p.K848R ZFPM2_uc011lhs.1_Missense_Mutation_p.K579R NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 848 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) ACGTCTCCCAAAAGGCTGCTG 0.478000 PKHD1L1 93035 broad.mit.edu 37 8 110455187 110455187 + Missense_Mutation SNP A A T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr8:110455187A>T uc003yne.2 + 36 4510 c.4406A>T c.(4405-4407)TAC>TTC p.Y1469F NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1469 Extracellular (Potential).|IPT/TIG 7. immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TCATTTTCTTACCAATTTACT 0.323000 HNSCC(38;0.096) PARP10 84875 broad.mit.edu 37 8 145059422 145059422 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr8:145059422G>C uc003zal.3 - 5 856 c.748C>G c.(748-750)CTG>GTG p.L250V PARP10_uc003zak.3_5'UTR|PARP10_uc011lku.1_Missense_Mutation_p.L262V|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.L250V|PARP10_uc010mfn.1_Missense_Mutation_p.L165V|PARP10_uc010mfo.1_3'UTR NM_032789 NP_116178 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 250 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1) 6 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCGGGCTCCAGgatgtcgtag 0.333000 CNTLN 54875 broad.mit.edu 37 9 17484457 17484457 + Missense_Mutation SNP A A G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr9:17484457A>G uc003zmz.2 + 24 4043 c.4017A>G c.(4015-4017)ATA>ATG p.I1339M CNTLN_uc003zmy.2_Missense_Mutation_p.I1340M|CNTLN_uc010mio.2_Missense_Mutation_p.I1019M NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 1340 centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) TAGAGGAAATATTAGACACAG 0.333000 GOLGA1 2800 broad.mit.edu 37 9 127643517 127643517 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr9:127643517G>C uc004bpc.2 - 22 2498 c.2156C>G c.(2155-2157)GCT>GGT p.A719G GOLGA1_uc010mws.2_RNA NM_002077 NP_002068 Q92805 GOGA1_HUMAN golgin 97 719 GRIP. Golgi cisterna membrane ovary(1) 1 CACTGACACAGCTTTTATAAG 0.493000 SCAI 286205 broad.mit.edu 37 9 127734104 127734104 + Missense_Mutation SNP G G C TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr9:127734104G>C uc004bpe.2 - 16 1500 c.1419C>G c.(1417-1419)AGC>AGG p.S473R SCAI_uc004bpd.2_Missense_Mutation_p.S496R|SCAI_uc010mwu.2_Intron NM_001144877 NP_001138349 Q8N9R8 SCAI_HUMAN suppressor of cancer cell invasion isoform 2 473 Helical; (Potential). negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|integral to membrane|nucleus protein binding|transcription corepressor activity ovary(2)|breast(2)|central_nervous_system(1) 5 GAGTGAAGAGGCTACCTCGCT 0.358000 CHIC1 53344 broad.mit.edu 37 X 72783280 72783282 + In_Frame_Del DEL GAG GAG - TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chrX:72783280_72783282delGAG uc004ebk.3 + 1 297_299 c.160_162delGAG c.(160-162)GAGdel p.E68del CHIC1_uc010nlo.2_RNA|CHIC1_uc011mql.1_In_Frame_Del_p.E68del|CHIC1_uc004ebl.3_In_Frame_Del_p.E68del NM_001039840 NP_001034929 Q5VXU3 CHIC1_HUMAN cysteine-rich hydrophobic domain 1 68 Poly-Glu.|Potential. cytoplasmic membrane-bounded vesicle|plasma membrane 0 Renal(35;0.156) agaggaggaagaggaggaggagg 0.320 OBSCN 84033 broad.mit.edu 37 1 228430943 228430944 + Frame_Shift_Ins INS - - G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr1:228430942_228430943A>AG uc009xez.1 + 9 3032_3033 c.2988_2989A>AG c.(2986-2991)gcagggfs p.A996fs OBSCN_uc001hsn.3_Frame_Shift_Ins_p.A996fs NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 996 Ig-like 10. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGGCTGAGGCAGGGGCCAGTGC 0.589 VARS 7407 broad.mit.edu 37 6 31760235 31760246 + In_Frame_Del DEL TTTCTTTGCCTC TTTCTTTGCCTC - TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr6:31760234_31760245GTTTCTTTGCCTC>G uc003nxe.3 - 4 1133_1144 c.710_721GAGGCAAAGAAAC>C c.(709-723)gaggcaaagaaacgg>gCgg p.237_241EAKKR>A VARS_uc011doi.1_Non-coding_Transcript NM_006295 NP_006286 P26640 SYVC_HUMAN Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA. 237 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) AGCTTCTCCCGTTTCTTTGCCTCTTTCTTGAG 0.561 TES 26136 broad.mit.edu 37 7 115889259 115889273 + In_Frame_Del DEL CCAAGAAGAATGTCT CCAAGAAGAATGTCT - rs62621959 TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr7:115889258_115889272GCCAAGAAGAATGTCT>G uc003vho.3 + 2 513_527 c.298_312GCCAAGAAGAATGTCT>G c.(298-312)gccaagaagaatgtc>G p.AKKNV100del TES_uc011kmx.2_In_Frame_Del_p.AKKNV100del|TES_uc011kmy.2_Intron|TES_uc010lka.2_In_Frame_Del_p.AKKNV91del|TES_uc003vhp.3_In_Frame_Del_p.AKKNV91del|TES_uc022aki.1_Non-coding_Transcript NM_015641 NP_690042 Q9UGI8 TES_HUMAN Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA. 100 PET. negative regulation of cell proliferation cytoplasm|focal adhesion|nucleus|protein complex zinc ion binding endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 12 Lung NSC(10;0.0137)|all_lung(10;0.0148) Breast(660;0.0602) STAD - Stomach adenocarcinoma(10;0.00878) TCCAGTTGCTGCCAAGAAGAATGTCTCCATCAATA 0.391 OR52J3 119679 broad.mit.edu 37 11 5068474 5068484 + Frame_Shift_Del DEL GCACGTGTGGC GCACGTGTGGC - rs61731854 byFrequency TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr11:5068473_5068483AGCACGTGTGGC>A uc010qyv.2 + 0 718_728 c.718_728AGCACGTGTGGC>A c.(718-729)agcacgtgtggcfs p.S240fs NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA. 240 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T241T(2) NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) AAAAGCCCTAAGCACGTGTGGCGCTCATGTT 0.445 NBEA 26960 broad.mit.edu 37 13 35731227 35731230 + Frame_Shift_Del DEL GTGT GTGT - TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr13:35731226_35731229AGTGT>A uc021rid.1 + 20 3197_3200 c.2663_2666AGTGT>A c.(2662-2667)cagtgtfs p.Q888fs NBEA_uc021ric.1_Frame_Shift_Del_p.Q888fs NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 888 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TGCTTATTGCAGTGTTCAGTGTGG 0.304 B2M 567 broad.mit.edu 37 15 45007747 45007751 + Frame_Shift_Del DEL GAATT GAATT - TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr15:45007746_45007750AGAATT>A uc001zuc.3 + 1 253_257 c.193_197AGAATT>A c.(193-198)agaattfs p.R65fs B2M_uc010uek.1_Frame_Shift_Del_p.R65fs|B2M_uc010bdx.1_Frame_Shift_Del_p.R65fs NM_004048 NP_004039 P61769 B2MG_HUMAN Homo sapiens beta-2-microglobulin (B2M), mRNA. 65 Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction Golgi membrane|MHC class I protein complex|early endosome membrane protein binding p.K61_L74del(2) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 59 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) GAATGGAGAGAGAATTGAAAAAGTG 0.415 CENPN 55839 broad.mit.edu 37 16 81061838 81061838 + Frame_Shift_Del DEL C C - TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr16:81061837_81061837TC>T uc002ffy.4 + 9 1662 c.872_872TC>T c.(871-873)ctcfs p.L291fs CENPN_uc002ffx.2_Frame_Shift_Del_p.L291fs|CENPN_uc010vnl.1_Frame_Shift_Del_p.L257fs|CENPN_uc010vnm.1_Frame_Shift_Del_p.L271fs NM_001100625 NP_001094095 Q96H22 CENPN_HUMAN Homo sapiens centromere protein N (CENPN), transcript variant 1, mRNA. 291 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm breast(1)|large_intestine(5)|lung(4) 10 GAAGAACCCCTCCGATGCCTA 0.398 SPACA3 124912 broad.mit.edu 37 17 31323877 31323888 + In_Frame_Del DEL TTTCACAAGCGG TTTCACAAGCGG - TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr17:31323876_31323887ATTTCACAAGCGG>A uc002hhs.1 + 2 434_445 c.359_370ATTTCACAAGCGG>A c.(358-372)tatttcacaagcggt>tAgt p.120_124YFTSG>* SPACA3_uc010cte.1_Non-coding_Transcript NM_173847 NP_776246 Q8IXA5 SACA3_HUMAN Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA. 120 cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(9;0.193) TGCCTTGCTTATTTCACAAGCGGTTTCAACGC 0.590 BZRAP1 9256 broad.mit.edu 37 17 56386384 56386385 + Frame_Shift_Ins INS - - T TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr17:56386383_56386384C>CT uc002ivx.4 - 21 5120_5121 c.4249_4250G>AG c.(4249-4251)agcfs p.S1417fs BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1417 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGCCTGCGGCTTGGGGGCTTC 0.653 BCAS3 54828 broad.mit.edu 37 17 59112070 59112086 + Frame_Shift_Del DEL GGCGGAGAATTTTGTGT GGCGGAGAATTTTGTGT - TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr17:59112069_59112085GGGCGGAGAATTTTGTGT>G uc002iyv.4 + 17 1834_1850 c.1725_1741GGGCGGAGAATTTTGTGT>G c.(1723-1743)atgggcggagaattttgtgtgfs p.M575fs BCAS3_uc010wow.1_Frame_Shift_Del_p.M347fs|BCAS3_uc002iyu.4_Frame_Shift_Del_p.M560fs|BCAS3_uc002iyw.4_Frame_Shift_Del_p.M556fs|BCAS3_uc002iyy.4_Frame_Shift_Del_p.M331fs|BCAS3_uc002iyz.4_Frame_Shift_Del_p.M129fs|BCAS3_uc002iza.4_Frame_Shift_Del_p.M114fs NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA. 575 nucleus p.E578*(2) NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) GCAAATCGATGGGCGGAGAATTTTGTGTGGCTGCTAT 0.341 PRX 57716 broad.mit.edu 37 19 40901644 40901645 + Frame_Shift_Ins INS - - G TCGA-D7-8570-01A-11D-2340-08 TCGA-D7-8570-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 429aad6f-816d-4739-baa3-b0ebf2fcd501 37b5cb53-cfff-47ae-9769-b5df2c72f1e5 g.chr19:40901643_40901644T>TG uc002onr.3 - 6 2884_2885 c.2615_2616A>CA c.(2614-2616)ccafs p.P872fs PRX_uc002onq.3_Frame_Shift_Ins_p.P733fs|PRX_uc002ons.3_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN Homo sapiens periaxin (PRX), transcript variant 2, mRNA. 872 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TTTTAGCGGCTGGGACCTGCCC 0.629