Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut CASZ1 54897 broad.mit.edu 37 1 10699678 10699678 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr1:10699678C>T uc001aro.2 - 21 4921 c.4601G>A c.(4600-4602)CGC>CAC p.R1534H NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 1534 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GTGGTGCTTGCGATGCGCCGT 0.662 NA 5 7 0 0 0 0 PADI4 23569 broad.mit.edu 37 1 17682852 17682853 + Missense_Mutation DNP GG GG AT TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr1:17682852_17682853GG>AT uc001baj.2 + 13 1484_1485 c.1456_1457GG>AT c.(1456-1458)GGC>ATC p.G486I NM_012387 NP_036519 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 486 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) CTGCCTCCAGGGCTTCCGGCTG 0.609 NA 3 21 0 0 0 0 UBR4 23352 broad.mit.edu 37 1 19487581 19487581 + Nonsense_Mutation SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr1:19487581G>A uc001bbi.2 - 38 5240 c.5236C>T c.(5236-5238)CAG>TAG p.Q1746* UBR4_uc001bbm.1_Nonsense_Mutation_p.Q957* NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 1746 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GGTTCACTCTGAAATGCCGAC 0.512 NA 3 23 0 0 0 0 GJA9 81025 broad.mit.edu 37 1 39341347 39341347 + Silent SNP T T G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr1:39341347T>G uc001cct.1 - 2 705 c.424A>C c.(424-426)AGG>CGG p.R142R RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank NM_030772 NP_110399 P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa 142 Cytoplasmic (Potential). cell communication connexon complex|integral to membrane 0 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) TTTAGTTTCCTTTTCTCCAGC 0.433 NA 26 51 0 0 0 0 MSH4 4438 broad.mit.edu 37 1 76269464 76269464 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr1:76269464C>T uc001dhd.1 + 2 334 c.293C>T c.(292-294)TCA>TTA p.S98L NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 98 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 ACAGTTGCATCAAATTTTACT 0.328 NA MMR 5 39 0 0 0 0 IGSF8 93185 broad.mit.edu 37 1 160062266 160062266 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr1:160062266C>T uc001fva.2 - 5 1577 c.1532G>A c.(1531-1533)CGG>CAG p.R511Q IGSF8_uc001fuz.2_Missense_Mutation_p.R511Q|IGSF8_uc009wtf.2_Missense_Mutation_p.R511Q NM_052868 NP_443100 Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 511 Ig-like C2-type 4.|Extracellular (Potential). cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding 0 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TCCTCCAGGCCGGACTCCCAG 0.662 NA 5 19 0 0 0 0 PFDN2 5202 broad.mit.edu 37 1 161071851 161071851 + Missense_Mutation SNP T T C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr1:161071851T>C uc001fxu.2 - 3 325 c.275A>G c.(274-276)AAC>AGC p.N92S NM_012394 NP_036526 Q9UHV9 PFD2_HUMAN prefoldin subunit 2 92 'de novo' posttranslational protein folding prefoldin complex unfolded protein binding 0 all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CTCCTTGTTGTTCTCCAAAGC 0.343 NA 6 22 0 0 0 0 SOX13 9580 broad.mit.edu 37 1 204085788 204085788 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr1:204085788C>T uc001ham.2 + 5 1167 c.572C>T c.(571-573)GCC>GTC p.A191V SOX13_uc001hal.2_Missense_Mutation_p.A191V|SOX13_uc010pqp.1_Missense_Mutation_p.A191V|SOX13_uc010pqq.1_Missense_Mutation_p.A58V NM_005686 NP_005677 Q9UN79 SOX13_HUMAN SRY-box 13 191 Gln-rich. anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1) 2 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) ATGGAGCTTGCCCGGCAGCAG 0.587 NA 3 38 0 0 0 0 FBXO18 84893 broad.mit.edu 37 10 5951214 5951214 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr10:5951214C>T uc001iis.2 + 5 1072 c.977C>T c.(976-978)GCG>GTG p.A326V FBXO18_uc001iir.2_Missense_Mutation_p.A252V|FBXO18_uc009xig.2_Missense_Mutation_p.A252V|FBXO18_uc001iit.2_Missense_Mutation_p.A377V NM_178150 NP_835363 Q8NFZ0 FBX18_HUMAN F-box only protein, helicase, 18 isoform 2 326 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(2)|skin(1) 3 GAGGCTGAGGCGTGTGTGCGG 0.612 NA 11 19 0 0 0 0 KIAA1462 57608 broad.mit.edu 37 10 30317939 30317939 + Missense_Mutation SNP C C A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr10:30317939C>A uc001iux.2 - 2 1197 c.1138G>T c.(1138-1140)GCT>TCT p.A380S KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.A242S|KIAA1462_uc009xle.1_Missense_Mutation_p.A380S NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 380 Pro-rich. ovary(4) 4 CTGGCCCCAGCCTTCTCGGTC 0.632 NA 7 90 8.13e-05 8.79e-05 1 0 COL17A1 1308 broad.mit.edu 37 10 105812854 105812854 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr10:105812854C>T uc001kxr.2 - 23 2043 c.1874G>A c.(1873-1875)CGA>CAA p.R625Q COL17A1_uc010qqv.1_Missense_Mutation_p.R609Q NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 625 Extracellular (Potential).|Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GGGGCCTTCTCGCCCTCTCTG 0.597 NA 34 50 0 0 0 0 ADAM12 8038 broad.mit.edu 37 10 127786990 127786990 + Missense_Mutation SNP C C A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr10:127786990C>A uc001ljk.2 - 10 1413 c.1000G>T c.(1000-1002)GTC>TTC p.V334F ADAM12_uc010qul.1_Missense_Mutation_p.V285F|ADAM12_uc001ljm.2_Missense_Mutation_p.V334F|ADAM12_uc001ljn.2_Missense_Mutation_p.V331F|ADAM12_uc001ljl.3_Missense_Mutation_p.V331F NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 334 Extracellular (Potential).|Peptidase M12B. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 9 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CTTACCATGACAATTCCCCCA 0.483 NA 43 75 2.02e-29 2.29e-29 1 0 OR51I1 390063 broad.mit.edu 37 11 5461808 5461808 + Missense_Mutation SNP G G C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr11:5461808G>C uc010qze.1 - 1 937 c.937C>G c.(937-939)CAG>GAG p.Q313E HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, 313 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTCAGGCCTGGGATTTATGG 0.463 NA 7 34 0 0 0 0 KCNC1 3746 broad.mit.edu 37 11 17793574 17793574 + Silent SNP C C T rs76882721 byFrequency TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr11:17793574C>T uc001mnk.3 + 2 988 c.933C>T c.(931-933)CGC>CGT p.R311R KCNC1_uc009yhc.1_Silent_p.R311R NM_004976 NP_004967 P48547 KCNC1_HUMAN Shaw-related voltage-gated potassium channel 311 Helical; Voltage-sensor; Name=Segment S4; (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1) 1 GCTTCCTGCGCGTCGTCCGCT 0.627 NA 3 19 0 0 0 0 HTATIP2 10553 broad.mit.edu 37 11 20404742 20404742 + Silent SNP C C G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr11:20404742C>G uc009yia.1 + 6 786 c.720C>G c.(718-720)CTC>CTG p.L240L HTATIP2_uc009yib.1_Silent_p.L240L|HTATIP2_uc001mpx.2_Silent_p.L274L|HTATIP2_uc001mpz.2_Silent_p.L240L NM_006410 NP_006401 Q9BUP3 HTAI2_HUMAN HIV-1 Tat interactive protein 2, 30kDa isoform 240 angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter cytoplasm|nuclear envelope NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity 0 ATGGCTCTCTCAAGCCATGAC 0.443 NA 4 5 0 0 0 0 OR8H3 390152 broad.mit.edu 37 11 55890111 55890111 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr11:55890111C>T uc001nii.1 + 1 263 c.263C>T c.(262-264)ACT>ATT p.T88I NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 88 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) AACTTACTGACTTCCAACTAT 0.423 NA 69 290 0 0 0 0 PGA5 5222 broad.mit.edu 37 11 61018663 61018663 + Missense_Mutation SNP G G T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr11:61018663G>T uc001nqz.2 + 9 1107 c.1077G>T c.(1075-1077)GAG>GAT p.E359D NM_014224 NP_055039 P00790 PEPA_HUMAN pepsinogen 5, group I precursor 359 digestion|proteolysis extracellular region aspartic-type endopeptidase activity skin(1) 1 AATCTGGAGAGCTTTGGATCC 0.552 NA 31 139 4.63e-21 5.2e-21 1 0 OR9K2 441639 broad.mit.edu 37 12 55523868 55523868 + Missense_Mutation SNP G G T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr12:55523868G>T uc010spe.1 + 1 316 c.316G>T c.(316-318)GCT>TCT p.A106S NM_001005243 NP_001005243 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, 106 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|pancreas(1) 2 TGAACCCAAGGCTATGATCAA 0.423 NA 19 70 2.35e-11 2.57e-11 1 0 ORAI1 84876 broad.mit.edu 37 12 122079507 122079507 + Missense_Mutation SNP C C G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr12:122079507C>G uc010szz.1 + 3 1057 c.864C>G c.(862-864)CAC>CAG p.H288Q NM_032790 NP_116179 Q96D31 CRCM1_HUMAN calcium release-activated calcium channel 288 Cytoplasmic (Potential). platelet activation|positive regulation of calcium ion transport integral to plasma membrane protein binding|store-operated calcium channel activity 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148) AGCTGGACCACAGAGGGGACC 0.612 NA 19 62 0 0 0 0 DGKH 160851 broad.mit.edu 37 13 42761205 42761205 + Missense_Mutation SNP A A C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr13:42761205A>C uc001uyl.1 + 14 1580 c.1559A>C c.(1558-1560)AAG>ACG p.K520T DGKH_uc010tfh.1_Missense_Mutation_p.K520T|DGKH_uc001uym.1_Missense_Mutation_p.K520T|DGKH_uc010tfi.1_Missense_Mutation_p.K275T|DGKH_uc010tfj.1_Missense_Mutation_p.K375T|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Missense_Mutation_p.K375T|DGKH_uc001uyp.2_RNA NM_178009 NP_821077 Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta isoform 2 520 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(2) 2 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) GAAACTGTAAAGGACTTCGTT 0.373 NA 14 51 0 0 0 0 NRXN3 9369 broad.mit.edu 37 14 80164200 80164200 + Missense_Mutation SNP A A C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr14:80164200A>C uc001xun.2 + 15 3216 c.2725A>C c.(2725-2727)ATG>CTG p.M909L NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.M277L|NRXN3_uc010asw.2_Missense_Mutation_p.M307L|NRXN3_uc001xur.3_Missense_Mutation_p.M277L NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 1282 Extracellular (Potential). axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GCCACCAGAAATGTCTACTAC 0.453 NA 8 47 0 0 0 0 HERC2 8924 broad.mit.edu 37 15 28517376 28517376 + Silent SNP G G A rs141677977 TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr15:28517376G>A uc001zbj.2 - 9 1174 c.1068C>T c.(1066-1068)TCC>TCT p.S356S HERC2_uc001zbl.1_Silent_p.S51S NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 356 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TGTCGCCCTCGGAGTGGGGTG 0.527 NA 3 24 0 0 0 0 UBR1 197131 broad.mit.edu 37 15 43330042 43330042 + Missense_Mutation SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr15:43330042G>A uc001zqq.2 - 17 2017 c.1951C>T c.(1951-1953)CGT>TGT p.R651C UBR1_uc010udk.1_Missense_Mutation_p.R651C NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 651 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding lung(1) 1 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) ACCAGACAACGTAAAGGATAT 0.393 NA 4 22 0 0 0 0 ITGA11 22801 broad.mit.edu 37 15 68624774 68624774 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr15:68624774C>T uc002ari.2 - 13 1555 c.1468G>A c.(1468-1470)GAC>AAC p.D490N ITGA11_uc010bib.2_Missense_Mutation_p.D490N NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN integrin, alpha 11 precursor 490 FG-GAP 5.|Potential.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity kidney(2)|pancreas(1) 3 Tirofiban(DB00775) CCGTCGCCGTCGATGTCCACC 0.602 NA 6 9 0 0 0 0 C15orf27 123591 broad.mit.edu 37 15 76496314 76496314 + Silent SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr15:76496314G>A uc002bbq.2 + 11 1409 c.1254G>A c.(1252-1254)CCG>CCA p.P418P C15orf27_uc010bkp.2_Silent_p.P234P|C15orf27_uc002bbr.2_Silent_p.P234P|C15orf27_uc002bbs.2_Silent_p.P96P NM_152335 NP_689548 Q2M3C6 CO027_HUMAN hypothetical protein LOC123591 418 integral to membrane 0 GCGAGGAGCCGTCCTCTGAGC 0.701 NA 10 28 0 0 0 0 SCAPER 49855 broad.mit.edu 37 15 76957999 76957999 + Missense_Mutation SNP G G C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr15:76957999G>C uc002bby.2 - 20 2699 c.2640C>G c.(2638-2640)AAC>AAG p.N880K SCAPER_uc010bkr.2_Missense_Mutation_p.N188K|SCAPER_uc002bbx.2_Missense_Mutation_p.N634K|SCAPER_uc002bbz.1_Missense_Mutation_p.N751K|SCAPER_uc002bca.1_Missense_Mutation_p.N745K NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 879 endoplasmic reticulum|nucleus zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 GGTACCTGAAGTTCATCCGGG 0.328 NA 2 3 0 0 0 0 IL16 3603 broad.mit.edu 37 15 81598782 81598782 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr15:81598782C>T uc002bgh.3 + 18 4077 c.3701C>T c.(3700-3702)ACG>ATG p.T1234M IL16_uc010blq.1_Missense_Mutation_p.T1188M|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.T1275M|IL16_uc002bgg.2_Missense_Mutation_p.T1233M|IL16_uc002bgi.1_Missense_Mutation_p.T623M|IL16_uc002bgj.2_Missense_Mutation_p.T727M|IL16_uc002bgk.2_Missense_Mutation_p.T533M|IL16_uc002bgl.1_Missense_Mutation_p.T533M|IL16_uc010unq.1_Missense_Mutation_p.T532M NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 1234 PDZ 4. immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 ACAGTCTGCACGGTGACACTG 0.577 NA 5 100 0 0 0 0 C15orf32 145858 broad.mit.edu 37 15 93016181 93016181 + Splice_Site SNP A A G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr15:93016181A>G uc002brc.1 + 2 847 c.375_splice c.e2-2 p.R125_splice C15orf32_uc010bod.1_Splice_Site NM_153040 NP_694585 Q32M92 CO032_HUMAN hypothetical protein LOC145858 ovary(1) 1 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125) TGTTTTCCACAGACACATCCT 0.493 NA 21 68 0 0 0 0 MTSS1L 92154 broad.mit.edu 37 16 70712271 70712271 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr16:70712271C>T uc002ezj.2 - 8 768 c.508G>A c.(508-510)GAC>AAC p.D170N MTSS1L_uc002ezk.1_Missense_Mutation_p.D87N NM_138383 NP_612392 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 170 IMD. filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding central_nervous_system(1) 1 TCGTTGACGTCCTGCAGGGCA 0.662 NA 12 46 0 0 0 0 CHST6 4166 broad.mit.edu 37 16 75512907 75512907 + Missense_Mutation SNP C C T rs72547538 TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr16:75512907C>T uc002fef.2 - 3 1000 c.820G>A c.(820-822)GAG>AAG p.E274K CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.E274K NM_021615 NP_067628 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) 274 Lumenal (Potential). E -> K (in MCD; abolishes ability to sulfate keratan). keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 GCCAGGTCCTCGAAGCGCACC 0.672 NA 5 60 0 0 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76513352 76513352 + Missense_Mutation SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr16:76513352G>A uc002feu.1 + 14 2184 c.1799G>A c.(1798-1800)AGA>AAA p.R600K CNTNAP4_uc002fev.1_Missense_Mutation_p.R464K|CNTNAP4_uc010chb.1_Missense_Mutation_p.R527K|CNTNAP4_uc002fex.1_Missense_Mutation_p.R603K|CNTNAP4_uc002few.2_Missense_Mutation_p.R575K NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 600 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 TATAAGCACAGAGGAAATACT 0.343 NA 16 81 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr17:7578406C>T uc002gim.2 - 5 718 c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTGGGGGCAGCGCCTCACAAC 0.652 R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 26 21 0 0 0 0 TAOK1 57551 broad.mit.edu 37 17 27849481 27849481 + Nonsense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr17:27849481C>T uc002hdz.1 + 17 2286 c.2092C>T c.(2092-2094)CGA>TGA p.R698* TAOK1_uc010wbe.1_Intron|TAOK1_uc010wbf.1_Nonsense_Mutation_p.R698* NM_020791 NP_065842 Q7L7X3 TAOK1_HUMAN TAO kinase 1 698 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Colorectal(6;0.198) GCGAAGAGAACGAGAACTAAG 0.428 NA 12 48 0 0 0 0 KRT24 192666 broad.mit.edu 37 17 38855898 38855898 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr17:38855898C>T uc002hvd.2 - 6 1216 c.1159G>A c.(1159-1161)GGA>AGA p.G387R NM_019016 NP_061889 Q2M2I5 K1C24_HUMAN keratin 24 387 Rod.|Coil 2. cytoplasm|intermediate filament structural molecule activity 0 Breast(137;0.00526) GCCAGGGTTCCCTCCAGGGAG 0.423 NA 29 55 0 0 0 0 KIF19 124602 broad.mit.edu 37 17 72322500 72322500 + Silent SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr17:72322500C>T uc002jkm.3 + 1 150 c.12C>T c.(10-12)AGC>AGT p.S4S KIF19_uc002jkj.2_Silent_p.S4S|KIF19_uc002jkk.2_Silent_p.S4S|KIF19_uc002jkl.2_Silent_p.S4S NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 4 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 TGAAGGACAGCGGGGACTCCA 0.672 NA 11 51 0 0 0 0 CCDC40 55036 broad.mit.edu 37 17 78073373 78073373 + Silent SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr17:78073373G>A uc010dht.2 + 20 3255 c.3228G>A c.(3226-3228)CAG>CAA p.Q1076Q CCDC40_uc002jxm.3_Silent_p.Q859Q|CCDC40_uc002jxn.3_Silent_p.Q472Q|GAA_uc002jxo.2_5'Flank|GAA_uc002jxp.2_5'Flank|GAA_uc002jxq.2_5'Flank NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 1076 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGCACCTGCAGGCTGTGAAGG 0.572 NA 13 41 0 0 0 0 TMEM161A 54929 broad.mit.edu 37 19 19231608 19231608 + Silent SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr19:19231608G>A uc002nlg.2 - 11 1182 c.1152C>T c.(1150-1152)CTC>CTT p.L384L TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Silent_p.L359L|TMEM161A_uc002nli.2_Silent_p.L281L|TMEM161A_uc002nlj.2_Silent_p.L259L NM_017814 NP_060284 Q9NX61 T161A_HUMAN transmembrane protein 161A precursor 384 Helical; (Potential). cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid integral to membrane breast(2) 2 OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011) AGTTGAGGGTGAGGATGAGCG 0.612 NA 7 46 0 0 0 0 ZNF493 284443 broad.mit.edu 37 19 21607093 21607093 + Silent SNP C C A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr19:21607093C>A uc002npx.2 + 2 1528 c.1248C>A c.(1246-1248)CCC>CCA p.P416P ZNF493_uc002npw.2_Silent_p.P544P|ZNF493_uc002npy.2_Silent_p.P416P NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 416 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GAGAAAAACCCTACAAATGTG 0.358 NA 4 11 0.00909568 0.00939147 1 0 RYR1 6261 broad.mit.edu 37 19 38948883 38948883 + Silent SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr19:38948883C>T uc002oit.2 + 18 2248 c.2118C>T c.(2116-2118)GTC>GTT p.V706V RYR1_uc002oiu.2_Silent_p.V706V NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 706 Cytoplasmic.|B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCAACGGGGTCGGCGATGACC 0.657 NA 24 51 0 0 0 0 KPTN 11133 broad.mit.edu 37 19 47984035 47984035 + Missense_Mutation SNP A A G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr19:47984035A>G uc002pgy.2 - 6 685 c.581T>C c.(580-582)CTG>CCG p.L194P KPTN_uc010xys.1_RNA NM_007059 NP_008990 Q9Y664 KPTN_HUMAN kaptin (actin binding protein) 194 actin filament organization|cellular component movement|sensory perception of sound actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium actin binding ovary(1) 1 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694) CAGGTTCGTCAGCTCTGGGAA 0.587 NA 25 101 0 0 0 0 DBP 1628 broad.mit.edu 37 19 49134221 49134221 + Missense_Mutation SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr19:49134221G>A uc002pjx.3 - 4 1239 c.851C>T c.(850-852)TCG>TTG p.S284L DBP_uc002pjy.2_3'UTR NM_001352 NP_001343 Q10586 DBP_HUMAN D site of albumin promoter (albumin D-box) 284 regulation of transcription from RNA polymerase II promoter|rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 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;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155) CGCCCGCACCGATATCTGGTT 0.647 NA 3 8 0 0 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52722988 52722988 + Silent SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr19:52722988G>A uc002pyp.2 + 10 1332 c.1173G>A c.(1171-1173)GTG>GTA p.V391V PPP2R1A_uc010ydk.1_Silent_p.V336V|PPP2R1A_uc002pyq.2_Silent_p.V212V NM_014225 NP_055040 P30153 2AAA_HUMAN alpha isoform of regulatory subunit A, protein 391 PP2A subunit B binding.|HEAT 10. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1) 66 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) TGGACTGTGTGAACGAGGTGA 0.577 NA Mis clear cell ovarian carcinoma 11 22 0 0 0 0 ZNF667 63934 broad.mit.edu 37 19 56952582 56952582 + Silent SNP C C A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr19:56952582C>A uc002qnd.2 - 5 1944 c.1782G>T c.(1780-1782)CGG>CGT p.R594R ZNF667_uc010etl.2_Silent_p.R376R|ZNF667_uc002qne.2_Silent_p.R594R|ZNF667_uc010etm.2_Silent_p.R537R NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 594 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) GGGATGAACTCCGACTATATG 0.388 NA 21 42 7.88e-14 8.77e-14 1 0 ZNF329 79673 broad.mit.edu 37 19 58639326 58639326 + Silent SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr19:58639326C>T uc002qrn.2 - 4 1782 c.1545G>A c.(1543-1545)CAG>CAA p.Q515Q ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA NM_024620 NP_078896 Q86UD4 ZN329_HUMAN zinc finger protein 329 515 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) TTTTTCCACACTGAGGACACC 0.512 NA 29 72 0 0 0 0 KHK 3795 broad.mit.edu 37 2 27317367 27317367 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr2:27317367C>T uc002ril.2 + 3 749 c.232C>T c.(232-234)CGC>TGC p.R78C KHK_uc002rim.2_Intron|KHK_uc002rin.2_Missense_Mutation_p.R79C|KHK_uc002rio.2_Intron NM_000221 NP_000212 P50053 KHK_HUMAN ketohexokinase isoform a 78 fructose catabolic process cytosol ATP binding|ketohexokinase activity|protein binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGACCTCCGCCGCTATTCTGT 0.597 NA 20 51 0 0 0 0 FBXO11 80204 broad.mit.edu 37 2 48066041 48066041 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr2:48066041C>T uc010fbl.2 - 4 406 c.292G>A c.(292-294)GTA>ATA p.V98I FBXO11_uc002rwe.2_Missense_Mutation_p.V98I|FBXO11_uc002rwf.2_Missense_Mutation_p.V98I|FBXO11_uc002rwg.1_Missense_Mutation_p.V98I NM_025133 NP_079409 Q86XK2 FBX11_HUMAN F-box only protein 11 isoform 1 182 F-box. ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CGTTTACATACACAAGCTGCT 0.378 NA 3 40 0 0 0 0 POLR1A 25885 broad.mit.edu 37 2 86279995 86279995 + Silent SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr2:86279995G>A uc002sqs.2 - 16 2716 c.2337C>T c.(2335-2337)ACC>ACT p.T779T POLR1A_uc010ytb.1_Silent_p.T145T NM_015425 NP_056240 O95602 RPA1_HUMAN DNA-directed RNA polymerase I A 779 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding ovary(2)|skin(1) 3 GGGCCAGGCAGGTTAGAACCT 0.642 NA 11 19 0 0 0 0 TBR1 10716 broad.mit.edu 37 2 162273105 162273105 + Nonsense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr2:162273105C>T uc002ubw.1 + 1 486 c.184C>T c.(184-186)CAG>TAG p.Q62* TBR1_uc010foy.2_5'Flank NM_006593 NP_006584 Q16650 TBR1_HUMAN T-box, brain, 1 62 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 GATGACGAATCAGTCAGATAC 0.493 NA 13 38 0 0 0 0 WIPF1 7456 broad.mit.edu 37 2 175431842 175431842 + Missense_Mutation SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr2:175431842G>A uc002uiy.2 - 8 1744 c.1412C>T c.(1411-1413)ACG>ATG p.T471M uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.T471M|WIPF1_uc010fqt.1_Missense_Mutation_p.T471M|WIPF1_uc002uiz.2_Missense_Mutation_p.T471M|WIPF1_uc002ujb.1_Missense_Mutation_p.T471M NM_003387 NP_003378 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 471 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding ovary(1)|skin(1) 2 ACTTTTGGTCGTTTGTACATA 0.458 NA 14 33 0 0 0 0 C2orf67 151050 broad.mit.edu 37 2 211018847 211018847 + Missense_Mutation SNP C C A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr2:211018847C>A uc002vds.2 - 2 668 c.460G>T c.(460-462)GAT>TAT p.D154Y C2orf67_uc002vdt.2_Missense_Mutation_p.D154Y|C2orf67_uc002vdw.2_Missense_Mutation_p.D154Y|C2orf67_uc002vdy.1_Missense_Mutation_p.D154Y|C2orf67_uc002vdv.2_Missense_Mutation_p.D154Y|C2orf67_uc002vdx.1_Missense_Mutation_p.D154Y NM_152519 NP_689732 A0AUZ9 CB067_HUMAN hypothetical protein LOC151050 154 ovary(3) 3 Renal(323;0.202) Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696) ATATTTGAATCCAGAATAATT 0.348 NA 8 23 0.000274275 0.000293949 1 0 CXCR2 3579 broad.mit.edu 37 2 219000421 219000421 + Silent SNP C C T rs13306439 TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr2:219000421C>T uc002vgz.1 + 4 1122 c.897C>T c.(895-897)ACC>ACT p.T299T CXCR2_uc002vha.1_Silent_p.T299T|CXCR2_uc002vhb.1_Silent_p.T299T NM_001557 NP_001548 P25025 CXCR2_HUMAN interleukin 8 receptor beta 299 Helical; Name=7; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation cell surface|integral to plasma membrane|mast cell granule interleukin-8 receptor activity lung(1)|breast(1) 2 TGGATGCCACCGAGATTCTGG 0.567 NA 9 60 0 0 0 0 WDFY1 57590 broad.mit.edu 37 2 224743419 224743419 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr2:224743419C>T uc002vnq.2 - 12 1253 c.1202G>A c.(1201-1203)TGC>TAC p.C401Y NM_020830 NP_065881 Q8IWB7 WDFY1_HUMAN WD repeat and FYVE domain containing 1 401 WD 7. cytosol|early endosome|nucleus 1-phosphatidylinositol binding|zinc ion binding lung(1) 1 all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189) Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843) CGCCAGACTGCAGCCCACCAC 0.542 NA 4 15 0 0 0 0 COL4A4 1286 broad.mit.edu 37 2 227945173 227945173 + Missense_Mutation SNP C C G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr2:227945173C>G uc010zlt.1 - 24 2443 c.1789G>C c.(1789-1791)GAT>CAT p.D597H NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 597 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GGTCCTGGATCCCCTTTTTCT 0.463 NA 15 54 0 0 0 0 COL18A1 80781 broad.mit.edu 37 21 46899995 46899995 + Silent SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr21:46899995G>A uc011afs.1 + 10 2589 c.2568G>A c.(2566-2568)GGG>GGA p.G856G COL18A1_uc002zhg.2_Silent_p.G441G|COL18A1_uc002zhi.2_Silent_p.G621G NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 856 Triple-helical region 2 (COL2). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GAGACCCTGGGGTTGGAGAGA 0.502 NA 3 47 0 0 0 0 CECR1 51816 broad.mit.edu 37 22 17670900 17670900 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr22:17670900C>T uc002zmk.1 - 5 1116 c.904G>A c.(904-906)GCA>ACA p.A302T CECR1_uc010gqu.1_Missense_Mutation_p.A302T|CECR1_uc011agi.1_Missense_Mutation_p.A260T|CECR1_uc011agj.1_3'UTR|CECR1_uc002zmj.1_Missense_Mutation_p.A61T NM_017424 NP_059120 Q9NZK5 CECR1_HUMAN cat eye syndrome critical region protein 1 302 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding ovary(1) 1 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) ATGGATTCTGCGATGACAGCC 0.577 NA 10 37 0 0 0 0 GNB1L 54584 broad.mit.edu 37 22 19789706 19789706 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr22:19789706C>T uc002zqe.1 - 6 944 c.550G>A c.(550-552)GGC>AGC p.G184S GNB1L_uc002zqd.1_Missense_Mutation_p.G40S|GNB1L_uc002zqf.1_Missense_Mutation_p.G184S NM_053004 NP_443730 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein 184 WD 3. G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1) 1 Colorectal(54;0.0993) TCCTCATAGCCGGCCAGAAGG 0.622 NA 12 31 0 0 0 0 DCLK3 85443 broad.mit.edu 37 3 36779850 36779850 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr3:36779850C>T uc003cgi.2 - 2 792 c.301G>A c.(301-303)GAG>AAG p.E101K NM_033403 NP_208382 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 101 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1) 9 GGTTCTGGCTCCCATTTCCCC 0.592 NA 46 85 0 0 0 0 DCLK3 85443 broad.mit.edu 37 3 36779895 36779895 + Missense_Mutation SNP C C G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr3:36779895C>G uc003cgi.2 - 2 747 c.256G>C c.(256-258)GAT>CAT p.D86H NM_033403 NP_208382 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 86 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1) 9 GCTCTGTCATCTAGTGAAAGC 0.622 NA 51 100 0 0 0 0 PLCD1 5333 broad.mit.edu 37 3 38050888 38050888 + Missense_Mutation SNP T T C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr3:38050888T>C uc003chn.2 - 10 1605 c.1481A>G c.(1480-1482)GAC>GGC p.D494G PLCD1_uc003chm.2_Missense_Mutation_p.D515G NM_006225 NP_006216 P51178 PLCD1_HUMAN phospholipase C, delta 1 isoform 2 494 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) AATGACCATGTCAGAGAGCTC 0.577 NA 17 14 0 0 0 0 CACNA2D2 9254 broad.mit.edu 37 3 50402370 50402370 + Silent SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr3:50402370C>T uc003daq.2 - 38 3299 c.3261G>A c.(3259-3261)CAG>CAA p.Q1087Q CACNA2D2_uc003dap.2_Silent_p.Q1080Q|CACNA2D2_uc003dao.2_Silent_p.Q160Q NM_006030 NP_006021 Q9NY47 CA2D2_HUMAN calcium channel, voltage-dependent, alpha 1087 Extracellular (Potential). energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) Gabapentin(DB00996) ATCGCGGTCTCTGCACTAGCT 0.453 NA 8 30 0 0 0 0 MYH15 22989 broad.mit.edu 37 3 108117636 108117636 + Nonsense_Mutation SNP C C A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr3:108117636C>A uc003dxa.1 - 36 5098 c.5041G>T c.(5041-5043)GAG>TAG p.E1681* NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 1681 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 GCCACCTGCTCCTTCAGATCA 0.537 NA 9 163 0.000673444 0.00071571 1 0 SEMA5B 54437 broad.mit.edu 37 3 122647874 122647874 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr3:122647874C>T uc003efz.1 - 6 810 c.506G>A c.(505-507)CGC>CAC p.R169H SEMA5B_uc011bju.1_Missense_Mutation_p.R111H|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.R169H|SEMA5B_uc010hro.1_Missense_Mutation_p.R111H|SEMA5B_uc010hrp.1_RNA NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 169 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) GCAGGAGCGGCGCGTGTCCTC 0.617 NA 8 30 0 0 0 0 MTTP 4547 broad.mit.edu 37 4 100543978 100543978 + Silent SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr4:100543978G>A uc003hvc.3 + 19 2914 c.2658G>A c.(2656-2658)CCG>CCA p.P886P MTTP_uc011cej.1_Silent_p.P913P NM_000253 NP_000244 P55157 MTP_HUMAN microsomal triglyceride transfer protein large 886 lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity ovary(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) CCCCTCAGCCGGATAGTACTT 0.443 NA 24 55 0 0 0 0 NKD2 85409 broad.mit.edu 37 5 1032273 1032273 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr5:1032273C>T uc003jbt.1 + 4 153 c.148C>T c.(148-150)CCC>TCC p.P50S NKD2_uc010itf.1_Missense_Mutation_p.P50S NM_033120 NP_149111 Q969F2 NKD2_HUMAN naked cuticle homolog 2 50 Targeting to the basolateral cell membrane. exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding 0 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) GCAGGAGCTGCCCAATGGGGA 0.662 NA 22 204 0 0 0 0 RXFP3 51289 broad.mit.edu 37 5 33937016 33937016 + Silent SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr5:33937016G>A uc003jic.1 + 1 528 c.171G>A c.(169-171)CCG>CCA p.P57P NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 57 Extracellular (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 TGGAGTTGCCGGACGGCGCGC 0.687 NA 14 153 0 0 0 0 MARVELD2 153562 broad.mit.edu 37 5 68716051 68716051 + Missense_Mutation SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr5:68716051G>A uc003jwq.2 + 2 898 c.839G>A c.(838-840)CGG>CAG p.R280Q MARVELD2_uc010ixf.2_Missense_Mutation_p.R280Q|MARVELD2_uc003jwr.1_Missense_Mutation_p.R280Q|MARVELD2_uc003jws.1_Intron NM_001038603 NP_001033692 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 isoform 1 280 MARVEL.|Extracellular (Potential). sensory perception of sound integral to membrane|tight junction 0 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) ATGTATTACCGGACCATTCTT 0.433 NA 15 55 0 0 0 0 PCDHA4 56144 broad.mit.edu 37 5 140187182 140187182 + Missense_Mutation SNP A A C rs144914662 byFrequency TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr5:140187182A>C uc003lhi.2 + 1 511 c.410A>C c.(409-411)CAA>CCA p.Q137P PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.Q137P|PCDHA4_uc011daa.1_Missense_Mutation_p.Q137P NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 137 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGCAACACAAAAGAACCTG 0.572 NA 4 82 0 0 0 0 ZFAND3 60685 broad.mit.edu 37 6 38084407 38084407 + Missense_Mutation SNP G G C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr6:38084407G>C uc003onx.2 + 5 836 c.421G>C c.(421-423)GAA>CAA p.E141Q NM_021943 NP_068762 Q9H8U3 ZFAN3_HUMAN zinc finger, AN1-type domain 3 141 DNA binding|zinc ion binding ovary(1) 1 TGAGAATACGGAACGGTCCGA 0.498 NA 14 33 0 0 0 0 SLC22A7 10864 broad.mit.edu 37 6 43267656 43267656 + Missense_Mutation SNP G G C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr6:43267656G>C uc003out.2 + 5 778 c.679G>C c.(679-681)GAG>CAG p.E227Q SLC22A7_uc010jyl.1_Missense_Mutation_p.E228Q|SLC22A7_uc003ous.2_Missense_Mutation_p.E225Q NM_153320 NP_696961 Q9Y694 S22A7_HUMAN solute carrier family 22 member 7 isoform b 227 basolateral plasma membrane|integral to plasma membrane|membrane fraction anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity 0 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) GCTGGATGTGGAGCACCGCAC 0.607 NA 17 42 0 0 0 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26233291 26233291 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr7:26233291C>T uc003sxr.3 - 9 997 c.781G>A c.(781-783)GGT>AGT p.G261S HNRNPA2B1_uc003sxs.3_Missense_Mutation_p.G249S NM_031243 NP_112533 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 261 Gly-rich. RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|protein binding|RNA binding|single-stranded telomeric DNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 CCTCCATAACCGGGGCTACCT 0.448 NA T ETV1 prostate 20 55 0 0 0 0 AUTS2 26053 broad.mit.edu 37 7 70254942 70254942 + Missense_Mutation SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr7:70254942G>A uc003tvw.3 + 19 3483 c.2740G>A c.(2740-2742)GGC>AGC p.G914S AUTS2_uc003tvx.3_Missense_Mutation_p.G890S|AUTS2_uc011keg.1_Missense_Mutation_p.G366S NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 914 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GGCGAAAGAGGGCCACCTGCC 0.687 NA 3 15 0 0 0 0 FLNC 2318 broad.mit.edu 37 7 128497288 128497288 + Missense_Mutation SNP G G A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr7:128497288G>A uc003vnz.3 + 46 7887 c.7678G>A c.(7678-7680)GTG>ATG p.V2560M FLNC_uc003voa.3_Missense_Mutation_p.V2527M NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2560 Interaction with INPPL1.|Filamin 23. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 TGAGGGCCATGTGGTCACTTA 0.607 NA 16 71 0 0 0 0 SSPO 23145 broad.mit.edu 37 7 149509044 149509044 + Missense_Mutation SNP C C G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr7:149509044C>G uc010lpk.2 + 69 9590 c.9590C>G c.(9589-9591)GCC>GGC p.A3197G NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 3197 TSP type-1 11. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CAGTGTTCAGCCTCCTGTGGC 0.697 NA 3 53 0 0 0 0 MLL3 58508 broad.mit.edu 37 7 151879181 151879181 + Missense_Mutation SNP G G C TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr7:151879181G>C uc003wla.2 - 36 5983 c.5764C>G c.(5764-5766)CCA>GCA p.P1922A MLL3_uc003wkz.2_Missense_Mutation_p.P983A NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1922 Pro-rich. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TTTTCCACTGGTGCAGCAGAA 0.463 NA N medulloblastoma 17 56 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110441662 110441662 + Silent SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr8:110441662C>T uc003yne.2 + 26 3198 c.3094C>T c.(3094-3096)CTA>TTA p.L1032L NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1032 Extracellular (Potential). 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) ACTTGGAGACCTACTTCGTAC 0.323 NA HNSCC(38;0.096) 4 8 0 0 0 0 GTF3C4 9329 broad.mit.edu 37 9 135553693 135553693 + Silent SNP G G A rs138509726 byFrequency TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr9:135553693G>A uc010mzv.2 + 2 945 c.687G>A c.(685-687)CCG>CCA p.P229P GTF3C4_uc010mzw.2_RNA NM_012204 NP_036336 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC 4 229 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) ATGAGGCCCCGGAAGGAAATC 0.517 NA 37 29 0 0 0 0 POLA1 5422 broad.mit.edu 37 X 24745918 24745918 + Silent SNP C C G TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chrX:24745918C>G uc004dbl.2 + 15 1556 c.1533C>G c.(1531-1533)GTC>GTG p.V511V POLA1_uc004dbm.2_Silent_p.V517V|POLA1_uc004dbn.2_Silent_p.V375V NM_016937 NP_058633 P09884 DPOLA_HUMAN DNA-directed DNA polymerase alpha 1 511 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding ovary(2)|skin(1) 3 Clofarabine(DB00631)|Fludarabine(DB01073) ATCAGCCAGTCAGTTGGTGTA 0.388 NA 8 46 0 0 0 0 FAM155B 27112 broad.mit.edu 37 X 68749788 68749788 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chrX:68749788C>T uc004dxk.2 + 3 1456 c.1408C>T c.(1408-1410)CGG>TGG p.R470W NM_015686 NP_056501 O75949 F155B_HUMAN transmembrane protein 28 471 integral to membrane ovary(1)|breast(1) 2 GGGCCTGACACGGGAAGAGTG 0.632 NA 3 21 0 0 0 0 BRWD3 254065 broad.mit.edu 37 X 79960224 79960224 + Nonsense_Mutation SNP T T A TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chrX:79960224T>A uc004edt.2 - 23 2937 c.2674A>T c.(2674-2676)AAG>TAG p.K892* BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Nonsense_Mutation_p.K488*|BRWD3_uc004edp.2_Nonsense_Mutation_p.K721*|BRWD3_uc004edq.2_Nonsense_Mutation_p.K488*|BRWD3_uc010nmj.1_Nonsense_Mutation_p.K488*|BRWD3_uc004edr.2_Nonsense_Mutation_p.K562*|BRWD3_uc004eds.2_Nonsense_Mutation_p.K488*|BRWD3_uc004edu.2_Nonsense_Mutation_p.K562*|BRWD3_uc004edv.2_Nonsense_Mutation_p.K488*|BRWD3_uc004edw.2_Nonsense_Mutation_p.K488*|BRWD3_uc004edx.2_Nonsense_Mutation_p.K488*|BRWD3_uc004edy.2_Nonsense_Mutation_p.K488*|BRWD3_uc004edz.2_Nonsense_Mutation_p.K562*|BRWD3_uc004eea.2_Nonsense_Mutation_p.K562*|BRWD3_uc004eeb.2_Nonsense_Mutation_p.K488* NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 892 ovary(4) 4 TCTAGGGACTTCAAATTTTCC 0.348 NA 16 444 0 0 0 0 BRWD3 254065 broad.mit.edu 37 X 80001189 80001189 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chrX:80001189C>T uc004edt.2 - 7 733 c.470G>A c.(469-471)CGC>CAC p.R157H BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_5'UTR|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_Intron|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 157 ovary(4) 4 ATGACCAAAGCGACTACAGCC 0.373 NA 184 15 0 0 0 0 POU3F4 5456 broad.mit.edu 37 X 82763808 82763808 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chrX:82763808C>T uc004eeg.2 + 1 540 c.476C>T c.(475-477)GCA>GTA p.A159V NM_000307 NP_000298 P49335 PO3F4_HUMAN POU domain, class 3, transcription factor 4 159 sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 GCCGCCTCTGCACAGAGCCTG 0.657 NA 6 63 0 0 0 0 TEX13A 56157 broad.mit.edu 37 X 104463741 104463741 + Missense_Mutation SNP C C T TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chrX:104463741C>T uc004ema.2 - 5 1247 c.1135G>A c.(1135-1137)GAC>AAC p.D379N IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_3'UTR NM_031274 NP_112564 Q9BXU3 TX13A_HUMAN testis expressed sequence 13A 379 RanBP2-type. intracellular zinc ion binding ovary(2) 2 CAGTCCCAGTCCCCTGGCCTG 0.532 NA 11 83 0 0 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995293 140995293 + Silent SNP A A T rs147024850 TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chrX:140995293A>T uc004fbt.2 + 4 2389 c.2103A>T c.(2101-2103)GGA>GGT p.G701G MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 701 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CTCTTGAGGGAGAGGACTCCC 0.567 NA HNSCC(15;0.026) 19 43 0 0 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1995395 1995405 + Frame_Shift_Del DEL GATATTAATGA GATATTAATGA - rs10735005 by1000genomes TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr12:1995395_1995405delGATATTAATGA uc001qjp.2 - 8 1208_1218 c.977_987delTCATTAATATC c.(976-987)TTCATTAATATCfs p.F326fs CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Intron NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 326_329 VWFA.|Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) TTACCGCTATGATATTAATGAAGTCATTCTC 0.498 NA 8 38 --- --- --- --- NA NA NA NA TRMT5 57570 broad.mit.edu 37 14 61442681 61442696 + Frame_Shift_Del DEL TTCTTTGCTACTGGAA TTCTTTGCTACTGGAA - TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr14:61442681_61442696delTTCTTTGCTACTGGAA uc001xff.3 - 4 1032_1047 c.941_956delTTCCAGTAGCAAAGAA c.(940-957)ATTCCAGTAGCAAAGAAAfs p.I314fs NM_020810 NP_065861 Q32P41 TRMT5_HUMAN tRNA methyltransferase 5 314_319 cytoplasm tRNA (guanine-N1-)-methyltransferase activity central_nervous_system(2)|large_intestine(1) 3 OV - Ovarian serous cystadenocarcinoma(108;0.0873) AGTGCAGTTTTTCTTTGCTACTGGAATGGCAAAGGG 0.417 NA 7 117 --- --- --- --- NA NA NA NA OR1D2 4991 broad.mit.edu 37 17 2995956 2995966 + Frame_Shift_Del DEL TTGTCCAGGGC TTGTCCAGGGC - rs138671819 TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr17:2995956_2995966delTTGTCCAGGGC uc010vrb.1 - 1 325_335 c.325_335delGCCCTGGACAA c.(325-336)GCCCTGGACAACfs p.A109fs NM_002548 NP_002539 P34982 OR1D2_HUMAN olfactory receptor, family 1, subfamily D, 109_112 Helical; Name=3; (Potential). cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 CAGGATGAGGTTGTCCAGGGCCACCAAGGAG 0.54 NA 22 73 --- --- --- --- NA NA NA NA SHKBP1 92799 broad.mit.edu 37 19 41086523 41086527 + Frame_Shift_Del DEL GGATC GGATC - TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr19:41086523_41086527delGGATC uc002oob.2 + 8 663_667 c.614_618delGGATC c.(613-618)TGGATCfs p.W205fs SHKBP1_uc002ooc.2_Frame_Shift_Del_p.W205fs|SHKBP1_uc002ood.2_Frame_Shift_Del_p.W205fs|SHKBP1_uc010xvl.1_Frame_Shift_Del_p.W128fs|SHKBP1_uc002ooe.2_Frame_Shift_Del_p.W42fs|SHKBP1_uc002oof.2_Frame_Shift_Del_p.W42fs|SHKBP1_uc010xvm.1_Frame_Shift_Del_p.W42fs|SHKBP1_uc010xvn.1_Frame_Shift_Del_p.W83fs NM_138392 NP_612401 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 205_206 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|pancreas(1) 2 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CACCATAATTGGATCGCTGTGGCCT 0.595 NA 8 41 --- --- --- --- NA NA NA NA SAMHD1 25939 broad.mit.edu 37 20 35580031 35580032 + In_Frame_Ins INS - - ATC TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr20:35580031_35580032insATC uc002xgh.1 - 1 145_146 c.15_16insGAT c.(13-18)insGAT p.5_6insD NM_015474 NP_056289 Q9Y3Z3 SAMH1_HUMAN SAM domain- and HD domain-containing protein 1 5_6 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity 0 Myeloproliferative disorder(115;0.00878) GGCTGCTCGGAATCGGCTCGCT 0.693 NA 42 282 --- --- --- --- NA NA NA NA MCAT 27349 broad.mit.edu 37 22 43539128 43539128 + Frame_Shift_Del DEL C C - TCGA-CV-7416-01A-11D-2078-08 TCGA-CV-7416-10A-01D-2078-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 80c86be4-ccbe-4bf5-afcf-644cd337d37a 061150b2-1c4a-4126-9e7c-e9088d04db80 g.chr22:43539128delC uc003bdl.1 - 1 276 c.227delG c.(226-228)GGCfs p.G76fs MCAT_uc003bdm.1_Frame_Shift_Del_p.G76fs NM_173467 NP_775738 Q8IVS2 FABD_HUMAN mitochondrial malonyltransferase isoform a 76 fatty acid biosynthetic process mitochondrion [acyl-carrier-protein] S-malonyltransferase activity|binding ovary(1) 1 Ovarian(80;0.0694) GCGGCCCATGCCCACCACCTG 0.746 NA 2 4 --- --- --- --- NA NA NA NA