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 ACHILLES_Top_Genes 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 pox_cutoff isArtifactMode oxoGCut PRDM2 7799 broad.mit.edu 37 1 14107311 14107311 + Silent SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr1:14107311C>T uc001avi.2 + 8 3877 c.3021C>T c.(3019-3021)TGC>TGT p.C1007C PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Silent_p.C1007C|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Silent_p.C806C|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 1007 Pro-rich. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) CACACCCATGCCCCTCTCCAC 0.617 NA 5 120 0 0 0.000602 0 0 UBR4 23352 broad.mit.edu 37 1 19481946 19481946 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr1:19481946C>T uc001bbi.2 - 43 6293 c.6289G>A c.(6289-6291)GAG>AAG p.E2097K UBR4_uc001bbl.1_Missense_Mutation_p.E34K|UBR4_uc001bbm.1_Missense_Mutation_p.E1308K NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 2097 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) TTCAGGTCCTCATGATTGATT 0.398 NA 5 85 0 0 0.000602 0 0 PLA2G2D 26279 broad.mit.edu 37 1 20442055 20442055 + Silent SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr1:20442055G>A uc001bcz.2 - 3 254 c.237C>T c.(235-237)TGC>TGT p.C79C PLA2G2D_uc009vpo.2_Intron NM_012400 NP_036532 Q9UNK4 PA2GD_HUMAN phospholipase A2, group IID precursor 79 inflammatory response|lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity 0 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TGTAGATGCTGCACCCCTGGG 0.582 Melanoma(60;742 1548 31762 39240) NA Multiple Myeloma(11;0.12) 9 116 0 0 0.010729 0 0 MTF1 4520 broad.mit.edu 37 1 38288038 38288038 + Missense_Mutation SNP A A G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr1:38288038A>G uc001cce.1 - 9 1663 c.1522T>C c.(1522-1524)TCA>CCA p.S508P MTF1_uc009vvj.1_Missense_Mutation_p.S199P NM_005955 NP_005946 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 508 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding ovary(1)|pancreas(1) 2 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GCCGCTGCTGATGCAGAAGCC 0.587 NA 3 43 0 0 0.004672 0 0 CLCA2 9635 broad.mit.edu 37 1 86909605 86909605 + Missense_Mutation SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr1:86909605G>A uc001dlr.3 + 10 1786 c.1624G>A c.(1624-1626)GAT>AAT p.D542N NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 precursor 542 Extracellular (Potential). cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity ovary(1)|breast(1)|skin(1) 3 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) TATATTATTTGATCCTGATGG 0.398 Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642) NA 7 118 0 0 0.001984 0 0 LINGO4 339398 broad.mit.edu 37 1 151773644 151773644 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr1:151773644C>T uc001ezf.1 - 2 1727 c.1537G>A c.(1537-1539)GAC>AAC p.D513N NM_001004432 NP_001004432 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 513 Extracellular (Potential). integral to membrane large_intestine(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) ATGTTGGGGTCAGAAAGTGTG 0.577 NA 18 218 0 0 0.00499 0 0 PAPPA2 60676 broad.mit.edu 37 1 176758977 176758977 + Missense_Mutation SNP G G T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr1:176758977G>T uc001gkz.2 + 18 5912 c.4748G>T c.(4747-4749)GGA>GTA p.G1583V PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1583 Sushi 3. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CTGGAAGGTGGAATCTGGGAG 0.463 NA 18 27 6.94344e-10 9.28154e-10 0.006122 1 0 MARK1 4139 broad.mit.edu 37 1 220808734 220808734 + Missense_Mutation SNP C C G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr1:220808734C>G uc001hmn.3 + 12 1736 c.1139C>G c.(1138-1140)TCG>TGG p.S380W MARK1_uc009xdw.2_Missense_Mutation_p.S380W|MARK1_uc010pun.1_Missense_Mutation_p.S380W|MARK1_uc001hmm.3_Missense_Mutation_p.S358W NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 380 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) GGTGGTGAATCGTTATCCAGT 0.403 NA 3 58 0 0 0.004672 0 0 AKR1E2 83592 broad.mit.edu 37 10 4881968 4881968 + Silent SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr10:4881968C>T uc001ihi.2 + 6 745 c.630C>T c.(628-630)TGC>TGT p.C210C AKR1E2_uc001ihl.1_Intron|AKR1E2_uc010qam.1_Intron|AKR1E2_uc001ihh.1_Intron|AKR1E2_uc009xhw.2_Intron|AKR1E2_uc001ihj.2_RNA|AKR1E2_uc001ihk.2_Intron NM_001040177 NP_001035267 Q96JD6 AKCL2_HUMAN aldo-keto reductase family 1, member E2 210 cytoplasm 1,5-anhydro-D-fructose reductase activity 0 TCAGTTTTTGCCAATCCAGAG 0.433 NSCLC(43;343 1097 20371 28813 45509) NA 4 111 0 0 0.000602 0 0 ATRNL1 26033 broad.mit.edu 37 10 117486774 117486774 + Missense_Mutation SNP G G T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr10:117486774G>T uc001lcg.2 + 27 4198 c.3812G>T c.(3811-3813)CGA>CTA p.R1271L ATRNL1_uc010qsm.1_Missense_Mutation_p.R400L|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 1271 Cytoplasmic (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CTTCGAGAACGACAGCAGATG 0.433 NA 7 48 0.000157383 0.000200167 0.00308 1 0 HSPA12A 259217 broad.mit.edu 37 10 118460544 118460544 + Silent SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr10:118460544G>A uc001lct.2 - 4 456 c.351C>T c.(349-351)GCC>GCT p.A117A HSPA12A_uc001lcu.2_Silent_p.A34A NM_025015 NP_079291 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 117 ATP binding ovary(1) 1 all cancers(201;0.0158) AGTCCCTGGCGGCATACCCGA 0.567 NA 9 82 0 0 0.004482 0 0 OR51Q1 390061 broad.mit.edu 37 11 5443439 5443439 + Missense_Mutation SNP G G C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr11:5443439G>C uc010qzd.1 + 1 9 c.9G>C c.(7-9)CAG>CAC p.Q3H HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004757 NP_001004757 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, 3 Extracellular (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;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCATGTCCCAGGTGACTAACA 0.448 NA 16 115 0 0 0.004007 0 0 OR5D13 390142 broad.mit.edu 37 11 55541387 55541387 + Silent SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr11:55541387C>T uc010ril.1 + 1 474 c.474C>T c.(472-474)TCC>TCT p.S158S NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) TAGTGTGCTCCCTGATACTCA 0.408 NA 20 229 0 0 0.007413 0 0 ZFP91 80829 broad.mit.edu 37 11 58381734 58381734 + Missense_Mutation SNP G G C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr11:58381734G>C uc001nmx.3 + 9 1188 c.1020G>C c.(1018-1020)AAG>AAC p.K340N ZFP91_uc001nmy.3_Missense_Mutation_p.K339N|ZFP91-CNTF_uc010rkm.1_RNA NM_053023 NP_444251 Q96JP5 ZFP91_HUMAN zinc finger protein 91 340 Interaction with MAP3K14/NIK. activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) TGCTGAAGAAGAAATATGTAT 0.398 NA 14 73 0 0 0.00245 0 0 STIP1 10963 broad.mit.edu 37 11 63965325 63965325 + Splice_Site SNP G G C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr11:63965325G>C uc001nyk.1 + 8 1050 c.903_splice c.e8-1 p.K301_splice STIP1_uc010rnb.1_Splice_Site_p.K277_splice NM_006819 NP_006810 P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 axon guidance|response to stress Golgi apparatus|nucleus ovary(2)|liver(1) 3 TTCTTTATCAGAGCATATGCT 0.463 NA 5 352 0 0 0.001168 0 0 PANX1 24145 broad.mit.edu 37 11 93911638 93911638 + Missense_Mutation SNP T T C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr11:93911638T>C uc001per.2 + 3 810 c.425T>C c.(424-426)ATC>ACC p.I142T PANX1_uc001peq.2_Missense_Mutation_p.I142T NM_015368 NP_056183 Q96RD7 PANX1_HUMAN pannexin 1 142 Cytoplasmic (Potential). positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TTGAAGTTTATCATGGAAGAA 0.502 NA 3 92 0 0 0.004672 0 0 PYROXD1 79912 broad.mit.edu 37 12 21621467 21621467 + Missense_Mutation SNP C C G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr12:21621467C>G uc001rew.2 + 12 1409 c.1282C>G c.(1282-1284)CAG>GAG p.Q428E PYROXD1_uc009ziq.2_Missense_Mutation_p.Q169E|PYROXD1_uc009zir.2_Missense_Mutation_p.Q134E NM_024854 NP_079130 Q8WU10 PYRD1_HUMAN pyridine nucleotide-disulphide oxidoreductase 428 oxidoreductase activity ovary(1) 1 ATACAATGCACAGGGCTTAGG 0.363 NA 9 59 0 0 0.008291 0 0 TFCP2 7024 broad.mit.edu 37 12 51497949 51497949 + Missense_Mutation SNP G G C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr12:51497949G>C uc001rxw.2 - 9 1414 c.955C>G c.(955-957)CCA>GCA p.P319A TFCP2_uc001rxv.1_Missense_Mutation_p.P319A|TFCP2_uc009zlx.1_Missense_Mutation_p.P268A|TFCP2_uc001rxx.2_Intron|TFCP2_uc009zly.1_Missense_Mutation_p.P221A NM_005653 NP_005644 Q12800 TFCP2_HUMAN transcription factor CP2 319 Poly-Pro.|DNA-binding. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TCTGTGACTGGAGGGGGTGGC 0.408 NA 6 59 0 0 0.00308 0 0 RPS26 6231 broad.mit.edu 37 12 56436228 56436228 + Missense_Mutation SNP A A G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr12:56436228A>G uc001sjf.2 + 2 288 c.23A>G c.(22-24)AAT>AGT p.N8S NM_001029 NP_001020 P62854 RS26_HUMAN ribosomal protein S26 8 endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit mRNA binding|protein binding|structural constituent of ribosome breast(1) 1 OV - Ovarian serous cystadenocarcinoma(18;0.123) AGAAGGAACAATGGTCGTGCC 0.552 NA 11 53 0 0 0.013537 0 0 PITPNM2 57605 broad.mit.edu 37 12 123497231 123497231 + Missense_Mutation SNP T T A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr12:123497231T>A uc001uej.1 - 4 483 c.344A>T c.(343-345)TAT>TTT p.Y115F PITPNM2_uc001uek.1_Missense_Mutation_p.Y115F|PITPNM2_uc009zxu.1_Missense_Mutation_p.Y115F|hsa-mir-4304|MI0015832_5'Flank NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, 115 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) ATCAGTTTTATAAAAGGTTTC 0.512 NA 42 211 0 0 0.011902 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215725 20215725 + Missense_Mutation SNP G G T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr14:20215725G>T uc010tkt.1 + 1 139 c.139G>T c.(139-141)GTA>TTA p.V47L NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 47 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTTGATAGTGGTAACAGTGCA 0.418 NA 24 501 6.32553e-13 8.54273e-13 0.004656 1 0 RNF31 55072 broad.mit.edu 37 14 24621036 24621036 + Silent SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr14:24621036C>T uc001wmn.1 + 11 2214 c.1965C>T c.(1963-1965)AGC>AGT p.S655S RNF31_uc001wml.1_Silent_p.S504S|RNF31_uc001wmm.1_RNA|RNF31_uc010alg.1_Silent_p.S414S|RNF31_uc001wmo.1_Silent_p.S122S|RNF31_uc001wmp.2_RNA NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 655 CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00861) CACTCCCCAGCTGGGGCCGGG 0.617 NA 17 112 0 0 0.007413 0 0 C14orf102 55051 broad.mit.edu 37 14 90764706 90764706 + Missense_Mutation SNP A A G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr14:90764706A>G uc001xyi.1 - 8 1595 c.1564T>C c.(1564-1566)TTT>CTT p.F522L C14orf102_uc010atp.1_Missense_Mutation_p.F27L|C14orf102_uc001xyj.1_Missense_Mutation_p.F291L NM_017970 NP_060440 Q9H7Z3 CN102_HUMAN hypothetical protein LOC55051 isoform 1 522 protein binding ovary(2)|lung(1) 3 all_cancers(154;0.118) COAD - Colon adenocarcinoma(157;0.218) CTGTCCCAAAAGGGTTCAAAG 0.547 NA 4 90 0 0 0.000602 0 0 ZSCAN29 146050 broad.mit.edu 37 15 43658995 43658995 + Missense_Mutation SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr15:43658995G>A uc001zrk.1 - 3 682 c.535C>T c.(535-537)CCT>TCT p.P179S ZSCAN29_uc001zrj.1_Missense_Mutation_p.P59S|ZSCAN29_uc010bdf.1_Missense_Mutation_p.P178S|ZSCAN29_uc001zrl.1_Intron|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc001zrm.2_Missense_Mutation_p.P178S NM_152455 NP_689668 Q8IWY8 ZSC29_HUMAN zinc finger protein 690 179 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) CCGGATTTAGGAAATGGCAAT 0.458 NA 17 58 0 0 0.00499 0 0 SLC24A1 9187 broad.mit.edu 37 15 65917985 65917985 + Missense_Mutation SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr15:65917985G>A uc010ujf.1 + 2 1854 c.1567G>A c.(1567-1569)GTG>ATG p.V523M SLC24A1_uc010ujd.1_Missense_Mutation_p.V523M|SLC24A1_uc010uje.1_Missense_Mutation_p.V523M|SLC24A1_uc010ujg.1_Missense_Mutation_p.V523M|SLC24A1_uc010ujh.1_Missense_Mutation_p.V523M NM_004727 NP_004718 O60721 NCKX1_HUMAN solute carrier family 24 523 Alpha-1.|Helical; (Potential). response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity 0 CCACAGCAACGTGGGCATTGG 0.547 NA 5 163 0 0 0.000602 0 0 EFTUD1 79631 broad.mit.edu 37 15 82532838 82532838 + Missense_Mutation SNP T T C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr15:82532838T>C uc002bgt.1 - 6 606 c.437A>G c.(436-438)AAT>AGT p.N146S EFTUD1_uc002bgu.1_Missense_Mutation_p.N95S NM_024580 NP_078856 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain 146 GTP (By similarity). mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity ovary(1) 1 ATCAATCTTATTAATCACTAA 0.343 NA 14 26 0 0 0.00245 0 0 SEC14L5 9717 broad.mit.edu 37 16 5064922 5064922 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr16:5064922C>T uc002cye.2 + 16 2222 c.2042C>T c.(2041-2043)TCG>TTG p.S681L NM_014692 NP_055507 O43304 S14L5_HUMAN SEC14-like 5 681 Ser-rich. integral to membrane|intracellular transporter activity 0 GCCGCCACCTCGTCCTCCTCC 0.652 NA 7 81 0 0 0.004482 0 0 ABCC1 4363 broad.mit.edu 37 16 16215937 16215937 + Nonsense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr16:16215937C>T uc010bvi.2 + 24 3671 c.3496C>T c.(3496-3498)CGA>TGA p.R1166* ABCC1_uc010bvj.2_Nonsense_Mutation_p.R1107*|ABCC1_uc010bvk.2_Nonsense_Mutation_p.R1110*|ABCC1_uc010bvl.2_Nonsense_Mutation_p.R1166*|ABCC1_uc010bvm.2_Nonsense_Mutation_p.R1051*|ABCC1_uc002del.3_Nonsense_Mutation_p.R1060* NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 1166 Cytoplasmic.|ABC transmembrane type-1 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CAGCGTCATTCGAGCCTTCGA 0.612 NA 4 81 0 0 0.009096 0 0 RRN3P1 730092 broad.mit.edu 37 16 21817457 21817457 + Silent SNP G G A rs150520281 by1000genomes TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr16:21817457G>A uc010vbl.1 - 7 603 c.106C>T c.(106-108)CTG>TTG p.L36L uc002diq.3_Intron NR_003370 SubName: Full=Putative uncharacterized protein ENSP00000219758; 0 CTTACATCCAGCTTGAGTAGT 0.254 NA 4 23 0 0 0.009096 0 0 RRN3P1 730092 broad.mit.edu 37 16 21817525 21817525 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr16:21817525C>T uc010vbl.1 - 7 535 c.38G>A c.(37-39)AGG>AAG p.R13K uc002diq.3_Intron NR_003370 SubName: Full=Putative uncharacterized protein ENSP00000219758; 0 TACACTAATCCTTAGTAAGTT 0.284 NA 3 18 0 0 0.000602 0 0 SETD6 79918 broad.mit.edu 37 16 58550737 58550737 + Missense_Mutation SNP G G C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr16:58550737G>C uc002ens.2 + 5 756 c.697G>C c.(697-699)GAG>CAG p.E233Q SETD6_uc010cdl.2_Missense_Mutation_p.E233Q|SETD6_uc002enr.2_Missense_Mutation_p.E209Q|SETD6_uc010cdm.2_RNA|SETD6_uc010vij.1_Missense_Mutation_p.E157Q NM_001160305 NP_001153777 Q8TBK2 SETD6_HUMAN SET domain containing 6 isoform a 233 SET. negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response nucleus NF-kappaB binding|protein-lysine N-methyltransferase activity ovary(1) 1 GGAGGAAGAAGAGGATGAAAA 0.517 NA 9 210 0 0 0.006214 0 0 ZFHX3 463 broad.mit.edu 37 16 72991714 72991714 + Silent SNP C C A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr16:72991714C>A uc002fck.2 - 2 3004 c.2331G>T c.(2329-2331)GTG>GTT p.V777V ZFHX3_uc002fcl.2_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 777 Poly-Ala. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) ccgccgcagccaccgccgccg 0.458 NA 5 51 3.59834e-05 4.66715e-05 0.001168 1 0 SLC16A13 201232 broad.mit.edu 37 17 6941599 6941599 + Missense_Mutation SNP T T C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr17:6941599T>C uc002geh.2 + 3 780 c.472T>C c.(472-474)TTT>CTT p.F158L NM_201566 NP_963860 Q7RTY0 MOT13_HUMAN monocarboxylate transporter 13 158 Helical; (Potential). integral to membrane|plasma membrane symporter activity ovary(1)|skin(1) 2 ATTTGCCCCCTTTTTCCAGTG 0.652 NA 3 74 0 0 0.004672 0 0 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr17:7578212G>A uc002gim.2 - 6 831 c.637C>T c.(637-639)CGA>TGA p.R213* TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.2_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.1_Nonsense_Mutation_p.R174* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 213 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and 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.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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) ACACTATGTCGAAAAGTGTTT 0.532 Pancreas(47;798 1329 9957 10801) 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-Fraumensyndrome|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) 18 16 0 0 0.008871 0 0 DNAH2 146754 broad.mit.edu 37 17 7643738 7643738 + Missense_Mutation SNP G G T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr17:7643738G>T uc002giu.1 + 9 1391 c.1377G>T c.(1375-1377)AAG>AAT p.K459N DNAH2_uc002git.2_Missense_Mutation_p.K541N|DNAH2_uc010vuk.1_Missense_Mutation_p.K459N NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 459 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) ACCGGTGCAGGTTCCGTGCCG 0.597 NA 25 123 1.96895e-08 2.57932e-08 0.00278 1 0 MYH4 4622 broad.mit.edu 37 17 10352023 10352023 + Silent SNP G G C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr17:10352023G>C uc002gmn.2 - 32 4554 c.4443C>G c.(4441-4443)CTC>CTG p.L1481L uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1481 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 GCTCAGTGCTGAGAGAACGCG 0.453 NA 7 112 0 0 0.00308 0 0 CACNA1G 8913 broad.mit.edu 37 17 48678500 48678500 + Missense_Mutation SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr17:48678500G>A uc002irk.1 + 19 4252 c.3880G>A c.(3880-3882)GCC>ACC p.A1294T CACNA1G_uc002iri.1_Missense_Mutation_p.A1294T|CACNA1G_uc002irj.1_Missense_Mutation_p.A1271T|CACNA1G_uc002irl.1_Missense_Mutation_p.A1271T|CACNA1G_uc002irm.1_Missense_Mutation_p.A1271T|CACNA1G_uc002irn.1_Missense_Mutation_p.A1271T|CACNA1G_uc002iro.1_Missense_Mutation_p.A1271T|CACNA1G_uc002irp.1_Missense_Mutation_p.A1294T|CACNA1G_uc002irq.1_Missense_Mutation_p.A1271T|CACNA1G_uc002irr.1_Missense_Mutation_p.A1294T|CACNA1G_uc002irs.1_Missense_Mutation_p.A1294T|CACNA1G_uc002irt.1_Missense_Mutation_p.A1294T|CACNA1G_uc002irv.1_Missense_Mutation_p.A1294T|CACNA1G_uc002irw.1_Missense_Mutation_p.A1271T|CACNA1G_uc002iru.1_Missense_Mutation_p.A1271T|CACNA1G_uc002irx.1_Missense_Mutation_p.A1207T|CACNA1G_uc002iry.1_Missense_Mutation_p.A1207T|CACNA1G_uc002irz.1_Missense_Mutation_p.A1207T|CACNA1G_uc002isa.1_Missense_Mutation_p.A1207T|CACNA1G_uc002isb.1_Missense_Mutation_p.A1207T|CACNA1G_uc002isc.1_Missense_Mutation_p.A1207T|CACNA1G_uc002isd.1_Missense_Mutation_p.A1207T|CACNA1G_uc002ise.1_Missense_Mutation_p.A1207T|CACNA1G_uc002isf.1_Missense_Mutation_p.A1207T|CACNA1G_uc002isg.1_Missense_Mutation_p.A1207T|CACNA1G_uc002ish.1_Missense_Mutation_p.A1207T|CACNA1G_uc002isi.1_Missense_Mutation_p.A1184T|CACNA1G_uc002isj.2_Missense_Mutation_p.A18T NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 1294 III.|Helical; Name=S1 of repeat III; (Potential). axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CATCACCATCGCCATGGAGCG 0.592 NA 6 62 0 0 0.001168 0 0 ARL16 339231 broad.mit.edu 37 17 79650121 79650121 + Silent SNP T T C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr17:79650121T>C uc002kbf.2 - 3 327 c.228A>G c.(226-228)AGA>AGG p.R76R ARL16_uc002kbe.2_5'UTR|HGS_uc010wus.1_5'Flank|HGS_uc002kbg.2_5'Flank NM_001040025 NP_001035114 Q0P5N6 ARL16_HUMAN ADP-ribosylation factor-like 16 76 GTP binding 0 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TGGTGATCTTTCTCTGTGCCA 0.507 NA 5 213 0 0 0.000602 0 0 AFG3L2 10939 broad.mit.edu 37 18 12367060 12367060 + Silent SNP C C T rs146182382 TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr18:12367060C>T uc002kqz.1 - 5 569 c.456G>A c.(454-456)CTG>CTA p.L152L NM_006796 NP_006787 Q9Y4W6 AFG32_HUMAN AFG3 ATPase family gene 3-like 2 152 Helical; (Potential). cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding 0 Adenosine triphosphate(DB00171) CACCCCAGAACAGAGCAGTCC 0.458 NA 16 48 0 0 0.003163 0 0 ACAA2 10449 broad.mit.edu 37 18 47322175 47322175 + Missense_Mutation SNP C C G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr18:47322175C>G uc002ldw.3 - 4 786 c.389G>C c.(388-390)AGA>ACA p.R130T ACAA2_uc002ldx.3_Missense_Mutation_p.R127T NM_006111 NP_006102 P42765 THIM_HUMAN acetyl-coenzyme A acyltransferase 2 130 anti-apoptosis|cholesterol biosynthetic process acetyl-CoA C-acyltransferase activity|protein binding ovary(1) 1 ACGCACATTTCTGACACAGTA 0.323 NA 7 86 0 0 0.004482 0 0 SMAD4 4089 broad.mit.edu 37 18 48591919 48591919 + Missense_Mutation SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr18:48591919G>A uc010xdp.1 + 9 1620 c.1082G>A c.(1081-1083)CGC>CAC p.R361H SMAD4_uc002lfb.3_Missense_Mutation_p.R206H NM_005359 NP_005350 Q13485 SMAD4_HUMAN mothers against decapentaplegic homolog 4 361 MH2. R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in JPS). BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(35)|p.R361C(6)|p.R361H(3)|p.?(2)|p.R361S(1) pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1) 369 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) GGAGGAGATCGCTTTTGTTTG 0.413 NA Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia 4 68 0 0 0.009096 0 0 RDH8 50700 broad.mit.edu 37 19 10127840 10127840 + Missense_Mutation SNP G G C rs144177019 TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr19:10127840G>C uc002mmr.2 + 2 460 c.211G>C c.(211-213)GAG>CAG p.E71Q NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 71 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity ovary(3)|pancreas(1) 4 Epithelial(33;4.24e-05) Vitamin A(DB00162) GTGCAGTGATGAGTCGGTGGC 0.612 NA 3 16 0 0 0.004672 0 0 CARM1 10498 broad.mit.edu 37 19 11022906 11022906 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr19:11022906C>T uc002mpz.2 + 5 731 c.605C>T c.(604-606)GCC>GTC p.A202V CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_5'UTR NM_199141 NP_954592 Q86X55 CARM1_HUMAN coactivator-associated arginine 202 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding 0 TCGTTTTTTGCCGCCCAAGCT 0.622 NA 5 237 0 0 0.001168 0 0 F2RL3 9002 broad.mit.edu 37 19 17000388 17000388 + Missense_Mutation SNP C C G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr19:17000388C>G uc002nfa.2 + 2 289 c.114C>G c.(112-114)AGC>AGG p.S38R NM_003950 NP_003941 Q96RI0 PAR4_HUMAN coagulation factor II (thrombin) receptor-like 3 38 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity 0 TCCCAGACAGCACGCCCTCAA 0.667 NA 7 80 0 0 0.004482 0 0 BCL2L12 83596 broad.mit.edu 37 19 50170394 50170394 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr19:50170394C>T uc002ppa.2 + 3 1160 c.478C>T c.(478-480)CGC>TGC p.R160C IRF3_uc002pot.1_5'Flank|IRF3_uc010end.1_5'Flank|IRF3_uc002pox.1_5'Flank|IRF3_uc002poy.1_5'Flank|IRF3_uc002pou.2_5'Flank|IRF3_uc002pov.2_5'Flank|IRF3_uc002pow.2_5'Flank|IRF3_uc002poz.1_5'Flank|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.2_Missense_Mutation_p.R159C NM_138639 NP_619580 Q9HB09 B2L12_HUMAN BCL2-like 12 isoform 1 160 apoptosis central_nervous_system(1) 1 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214) TCTGCCCATCCGCCCCTGCTA 0.567 NA 11 212 0 0 0.008291 0 0 ZNF525 170958 broad.mit.edu 37 19 53885195 53885195 + Missense_Mutation SNP A A C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr19:53885195A>C uc010eqn.2 + 4 1448 c.1255A>C c.(1255-1257)ACC>CCC p.T419P ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.1_Intron NR_003699 Homo sapiens cDNA FLJ39718 fis, clone SMINT2013695. 0 GTTATCCCTTACCTGCCATTG 0.373 NA 4 34 0 0 0.000602 0 0 RPL23AP32 56969 broad.mit.edu 37 2 54756736 54756736 + Missense_Mutation SNP T T C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr2:54756736T>C uc010yot.1 + 1 378 c.254T>C c.(253-255)TTT>TCT p.F85S SPTBN1_uc002rxu.2_Intron|SPTBN1_uc002rxv.1_Intron NR_002229 SubName: Full=Putative uncharacterized protein DKFZp547I014; 0 ACCACTGAGTTTGCCATGAAG 0.483 NA 3 83 0 0 0.004672 0 0 CD207 50489 broad.mit.edu 37 2 71060878 71060878 + Missense_Mutation SNP G G T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr2:71060878G>T uc002shg.2 - 3 511 c.464C>A c.(463-465)CCA>CAA p.P155Q NM_015717 NP_056532 Q9UJ71 CLC4K_HUMAN CD207 antigen, langerin 155 Potential.|Extracellular (Potential). defense response to virus endocytic vesicle|integral to membrane mannose binding ovary(1)|lung(1) 2 TTTTAACTCTGGGATTTGGGC 0.438 NA 7 90 0.000157383 0.000200167 0.00308 1 0 CCDC93 54520 broad.mit.edu 37 2 118703137 118703137 + Missense_Mutation SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr2:118703137G>A uc002tlj.2 - 17 1444 c.1318C>T c.(1318-1320)CCT>TCT p.P440S CCDC93_uc010fld.1_Missense_Mutation_p.P440S NM_019044 NP_061917 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 440 large_intestine(1)|ovary(1) 2 AAGGTACCAGGCGGCTCTCCA 0.512 NA 5 99 0 0 0.001984 0 0 TTN 7273 broad.mit.edu 37 2 179650412 179650412 + Missense_Mutation SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr2:179650412G>A uc010zfg.1 - 15 2652 c.2428C>T c.(2428-2430)CGC>TGC p.R810C TTN_uc010zfh.1_Missense_Mutation_p.R764C|TTN_uc010zfi.1_Missense_Mutation_p.R764C|TTN_uc010zfj.1_Missense_Mutation_p.R764C|TTN_uc002unb.2_Missense_Mutation_p.R810C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 810 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTAGCTGTGCGGGGGCGTTTA 0.388 NA 7 153 0 0 0.001984 0 0 CPS1 1373 broad.mit.edu 37 2 211444463 211444463 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr2:211444463C>T uc002vee.3 + 5 629 c.497C>T c.(496-498)ACA>ATA p.T166I CPS1_uc010fur.2_Missense_Mutation_p.T172I NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 166 Anthranilate phosphoribosyltransferase homolog. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GGAGTGGACACAAGAATGCTG 0.284 NA 7 105 0 0 0.004482 0 0 ARPC2 10109 broad.mit.edu 37 2 219103426 219103426 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr2:219103426C>T uc002vhd.2 + 6 420 c.308C>T c.(307-309)CCG>CTG p.P103L ARPC2_uc002vhe.2_Missense_Mutation_p.P103L|ARPC2_uc002vhf.2_5'UTR NM_152862 NP_690601 O15144 ARPC2_HUMAN actin related protein 2/3 complex subunit 2 103 cellular component movement Arp2/3 protein complex|cell projection|Golgi apparatus actin binding|structural constituent of cytoskeleton ovary(1) 1 Renal(207;0.0474) Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103) GAAAATCTTCCGGCATCCAAG 0.373 NA 5 224 0 0 0.000602 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881884 228881884 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr2:228881884C>T uc002vpq.2 - 7 3733 c.3686G>A c.(3685-3687)CGA>CAA p.R1229Q SPHKAP_uc002vpp.2_Missense_Mutation_p.R1229Q|SPHKAP_uc010zlx.1_Missense_Mutation_p.R1229Q NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1229 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CACTGGGGATCGCAGAGAAGG 0.567 NA 6 111 0 0 0.001168 0 0 C22orf29 79680 broad.mit.edu 37 22 19839740 19839740 + Silent SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr22:19839740G>A uc002zqg.2 - 2 644 c.45C>T c.(43-45)ATC>ATT p.I15I GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqe.1_Intron|GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.2_Silent_p.I15I|C22orf29_uc002zqi.2_Silent_p.I15I|C22orf29_uc010grt.1_Intron NM_024627 NP_078903 Q7L3V2 CV029_HUMAN hypothetical protein LOC79680 15 0 Colorectal(54;0.0993) CGGCTGCCCAGATGGGAATGC 0.637 NA 27 75 0 0 0.00632 0 0 ACO2 50 broad.mit.edu 37 22 41919908 41919908 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr22:41919908C>T uc003bac.2 + 12 1467 c.1445C>T c.(1444-1446)GCA>GTA p.A482V ACO2_uc003bad.2_Missense_Mutation_p.A507V NM_001098 NP_001089 Q99798 ACON_HUMAN aconitase 2, mitochondrial precursor 482 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(2)|ovary(1)|lung(1) 4 CGCAACGACGCAAACCCCGAG 0.607 NA 15 28 0 0 0.004007 0 0 PARP3 10039 broad.mit.edu 37 3 51978890 51978890 + Missense_Mutation SNP G G C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr3:51978890G>C uc003dby.2 + 5 969 c.598G>C c.(598-600)GAG>CAG p.E200Q RRP9_uc003dbw.1_5'Flank|PARP3_uc003dbz.2_Missense_Mutation_p.E207Q NM_005485 NP_005476 Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 200 PARP alpha-helical. DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CTTCAGCAAGGAGATGTTCAA 0.622 NA 5 45 0 0 0.001984 0 0 TNFSF10 8743 broad.mit.edu 37 3 172224321 172224321 + Silent SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr3:172224321G>A uc003fid.2 - 5 902 c.807C>T c.(805-807)GAC>GAT p.D269D TNFSF10_uc003fie.2_3'UTR NM_003810 NP_003801 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, 269 Extracellular (Potential). activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding skin(4)|lung(1) 5 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TGGCTTCATGGTCCATGTCTA 0.368 NA 4 64 0 0 0.009096 0 0 DGKG 1608 broad.mit.edu 37 3 186015218 186015218 + Missense_Mutation SNP G G T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr3:186015218G>T uc003fqa.2 - 5 902 c.365C>A c.(364-366)CCT>CAT p.P122H DGKG_uc003fqb.2_Missense_Mutation_p.P122H|DGKG_uc003fqc.2_Missense_Mutation_p.P122H|DGKG_uc011brx.1_Missense_Mutation_p.P122H NM_001346 NP_001337 P49619 DGKG_HUMAN diacylglycerol kinase gamma isoform 1 122 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) ACCAGTATCAGGGGCACAGGC 0.448 NA 14 194 9.16793e-09 1.21313e-08 0.00499 1 0 FAT4 79633 broad.mit.edu 37 4 126389827 126389827 + Silent SNP C C T rs144476127 byFrequency TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr4:126389827C>T uc003ifj.3 + 11 12060 c.12060C>T c.(12058-12060)GGC>GGT p.G4020G FAT4_uc011cgp.1_Silent_p.G2283G|FAT4_uc003ifi.1_Silent_p.G1498G NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4020 Laminin G-like 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 ACCAGACAGGCGACCGGGCTG 0.398 NA 11 69 0 0 0.013537 0 0 PRDM9 56979 broad.mit.edu 37 5 23522507 23522507 + Silent SNP T T C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr5:23522507T>C uc003jgo.2 + 7 785 c.603T>C c.(601-603)GAT>GAC p.D201D NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 201 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AGGATGATGATTACCTCTGTA 0.443 NA HNSCC(3;0.000094) 15 237 0 0 0.004007 0 0 CLINT1 9685 broad.mit.edu 37 5 157218721 157218721 + Missense_Mutation SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr5:157218721G>A uc003lxj.1 - 10 1560 c.1370C>T c.(1369-1371)TCA>TTA p.S457L CLINT1_uc003lxg.1_5'Flank|CLINT1_uc003lxh.1_Missense_Mutation_p.S31L|CLINT1_uc003lxi.1_Missense_Mutation_p.S439L|CLINT1_uc011ddv.1_Missense_Mutation_p.S457L NM_014666 NP_055481 Q14677 EPN4_HUMAN epsin 4 457 endocytosis|post-Golgi vesicle-mediated transport clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm clathrin binding|lipid binding ovary(2)|pancreas(1) 3 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTGTGATCTTGACATAGGCAA 0.378 Colon(22;427 587 2170 6147 14291) NA 7 291 0 0 0.00308 0 0 GABRA6 2559 broad.mit.edu 37 5 161117220 161117220 + Silent SNP A A T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr5:161117220A>T uc003lyu.2 + 7 1025 c.687A>T c.(685-687)ATA>ATT p.I229I GABRA6_uc003lyv.2_5'UTR NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 229 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AATACGTTATAATGACAGTTT 0.358 NA TCGA Ovarian(5;0.080) 7 106 0 0 0.00308 0 0 GRM6 2916 broad.mit.edu 37 5 178408745 178408745 + Silent SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr5:178408745C>T uc003mjr.2 - 10 2726 c.2547G>A c.(2545-2547)CAG>CAA p.Q849Q GRM6_uc003mjq.2_Silent_p.Q252Q NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 849 Cytoplasmic (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) TCTGCACATTCTGCTCTGGAT 0.607 NA 7 170 0 0 0.001984 0 0 TRIM39 56658 broad.mit.edu 37 6 30309601 30309601 + Silent SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr6:30309601G>A uc010jrz.2 + 9 1434 c.1122G>A c.(1120-1122)AGG>AGA p.R374R TRIM39_uc003npz.2_Silent_p.R344R|TRIM39_uc003nqb.2_Silent_p.R344R|TRIM39_uc003nqc.2_Silent_p.R344R|TRIM39_uc010jsa.1_Silent_p.R344R NM_021253 NP_067076 Q9HCM9 TRI39_HUMAN tripartite motif-containing 39 isoform 1 374 B30.2/SPRY. apoptosis cytosol|mitochondrion identical protein binding|zinc ion binding ovary(3) 3 ACACACCAAGGCGTTTCACCT 0.572 NA 6 55 0 0 0.001984 0 0 HLA-DRA 3122 broad.mit.edu 37 6 32411157 32411157 + Missense_Mutation SNP A A G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr6:32411157A>G uc003obh.2 + 3 605 c.524A>G c.(523-525)TAT>TGT p.Y175C HLA-DRA_uc003obi.2_Missense_Mutation_p.Y150C NM_019111 NP_061984 P01903 DRA_HUMAN major histocompatibility complex, class II, DR 175 Ig-like C1-type.|Extracellular (Potential).|Alpha-2. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity ovary(1)|skin(1) 2 AAGTTCCACTATCTCCCCTTC 0.547 NA T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|KaposSarcoma_Familial_Clustering_of 13 131 0 0 0.00245 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33406039 33406039 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr6:33406039C>T uc011dri.1 + 8 1552 c.1357C>T c.(1357-1359)CAC>TAC p.H453Y SYNGAP1_uc003oeo.1_Missense_Mutation_p.H438Y|SYNGAP1_uc010juy.2_Missense_Mutation_p.H438Y|SYNGAP1_uc010juz.2_Missense_Mutation_p.H165Y NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 453 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding ovary(4) 4 TGCACTAGTTCACATCCTGCA 0.547 NA 21 214 0 0 0.012319 0 0 COL12A1 1303 broad.mit.edu 37 6 75801215 75801215 + Silent SNP T T C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr6:75801215T>C uc003phs.2 - 61 8842 c.8676A>G c.(8674-8676)AAA>AAG p.K2892K COL12A1_uc003pht.2_Silent_p.K1728K NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 2892 Triple-helical region (COL2) with 1 imperfection. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 CCCTATCACCTTTTTCTCCTT 0.284 NA 3 88 0 0 0.009096 0 0 HEY2 23493 broad.mit.edu 37 6 126080673 126080673 + Missense_Mutation SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr6:126080673G>A uc003qad.2 + 5 930 c.739G>A c.(739-741)GCC>ACC p.A247T HEY2_uc011ebr.1_Missense_Mutation_p.A201T NM_012259 NP_036391 Q9UBP5 HEY2_HUMAN hairy/enhancer-of-split related with YRPW motif 247 negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) GGGCAGCGTCGCCCCCTGCGT 0.662 NA 28 281 0 0 0.007291 0 0 ALDH8A1 64577 broad.mit.edu 37 6 135239586 135239586 + Silent SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr6:135239586G>A uc003qew.2 - 7 1484 c.1431C>T c.(1429-1431)TTC>TTT p.F477F ALDH8A1_uc003qex.2_Silent_p.F423F|ALDH8A1_uc010kgh.2_Silent_p.F255F|ALDH8A1_uc011ecx.1_Silent_p.F427F NM_022568 NP_072090 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8A1 isoform 1 477 retinal metabolic process cytoplasm retinal dehydrogenase activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) TGATCTCAGTGAAGAAGTCGT 0.502 NA 4 51 0 0 0.009096 0 0 SASH1 23328 broad.mit.edu 37 6 148869469 148869469 + Silent SNP C C T rs111485793 byFrequency TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr6:148869469C>T uc003qme.1 + 20 3994 c.3519C>T c.(3517-3519)CCC>CCT p.P1173P SASH1_uc003qmf.1_Silent_p.P583P NM_015278 NP_056093 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 1173 protein binding central_nervous_system(1) 1 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) GCCGAAAGCCCGTCTCTCCTG 0.522 NA 8 99 0 0 0.008291 0 0 LPA 4018 broad.mit.edu 37 6 160978538 160978538 + Missense_Mutation SNP T T G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr6:160978538T>G uc003qtl.2 - 30 4817 c.4697A>C c.(4696-4698)GAT>GCT p.D1566A NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 4074 Kringle 36. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CACACACGGATCGGTTGTGTA 0.498 NA 3 134 0 0 0.009096 0 0 CARD11 84433 broad.mit.edu 37 7 2985559 2985559 + Silent SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr7:2985559C>T uc003smv.2 - 4 656 c.252G>A c.(250-252)GGG>GGA p.G84G NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 84 CARD. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) AGCCCCTTTGCCCCTTGGTAT 0.493 NA Mis DLBCL 5 334 0 0 0.000602 0 0 SCIN 85477 broad.mit.edu 37 7 12692224 12692224 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr7:12692224C>T uc003ssn.3 + 16 2242 c.2032C>T c.(2032-2034)CTT>TTT p.L678F SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Missense_Mutation_p.L431F NM_001112706 NP_001106177 Q9Y6U3 ADSV_HUMAN scinderin isoform 1 678 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) CAAAATGTACCTTGAGACAGA 0.393 NA 3 80 0 0 0.004672 0 0 PKD1L1 168507 broad.mit.edu 37 7 47835714 47835714 + Missense_Mutation SNP C C G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr7:47835714C>G uc003tny.1 - 55 8228 c.8228G>C c.(8227-8229)AGA>ACA p.R2743T C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 2743 Cytoplasmic (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 AAAAGATTTTCTTTTTTGGGG 0.343 NA 12 102 0 0 0.013537 0 0 EGFR 1956 broad.mit.edu 37 7 55259515 55259515 + Missense_Mutation SNP T T G rs121434568 TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr7:55259515T>G uc003tqk.2 + 21 2819 c.2573T>G c.(2572-2574)CTG>CGG p.L858R EGFR_uc010kzg.1_Missense_Mutation_p.L813R|EGFR_uc011kco.1_Missense_Mutation_p.L805R|uc003tqo.2_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 858 Cytoplasmic (Potential).|Protein kinase. L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).|L -> M (found in a lung cancer sample). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L858R(3429)|p.L858L(4)|p.L858M(4)|p.L858Q(3)|p.L858A(2)|p.L858W(1)|p.L858P(1)|p.L858K(1)|p.L858G(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GATTTTGGGCTGGCCAAACTG 0.537 L858R(NCIH1975_LUNG) 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 44 67 0 0 0.010771 0 0 PLXNA4 91584 broad.mit.edu 37 7 131866933 131866933 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr7:131866933C>T uc003vra.3 - 17 3404 c.3175G>A c.(3175-3177)GCC>ACC p.A1059T NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1059 Extracellular (Potential).|IPT/TIG 3. integral to membrane|intracellular|plasma membrane ovary(1) 1 CCCCATACGGCGATGGGTGTG 0.507 NA 13 63 0 0 0.001855 0 0 NDUFB2 4708 broad.mit.edu 37 7 140402790 140402790 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr7:140402790C>T uc003vwa.2 + 2 287 c.223C>T c.(223-225)CAT>TAT p.H75Y NDUFB2_uc010lnl.2_RNA NM_004546 NP_004537 O95178 NDUB2_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 75 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.00956) NADH(DB00157) GCGCTTTTGGCATGACTCAGA 0.507 NA 5 319 0 0 0.001984 0 0 SLC7A2 6542 broad.mit.edu 37 8 17412165 17412165 + Silent SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr8:17412165G>A uc011kyc.1 + 7 1321 c.1152G>A c.(1150-1152)ACG>ACA p.T384T SLC7A2_uc011kyd.1_Intron|SLC7A2_uc011kye.1_Silent_p.T424T|SLC7A2_uc011kyf.1_Silent_p.T384T NM_001008539 NP_001008539 P52569 CTR2_HUMAN solute carrier family 7, member 2 isoform 2 384 Cytoplasmic (Potential). cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity ovary(2)|skin(1) 3 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) ATTCCAAAACGAAGACACCAA 0.433 NA 5 118 0 0 0.000602 0 0 RP1 6101 broad.mit.edu 37 8 55534023 55534023 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr8:55534023C>T uc003xsd.1 + 2 645 c.497C>T c.(496-498)ACG>ATG p.T166M RP1_uc011ldy.1_Missense_Mutation_p.T166M NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 166 Doublecortin 2. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GACCCGAAGACGAGGCGTGCG 0.642 Colon(91;1014 1389 7634 14542 40420) NA 15 96 0 0 0.004007 0 0 SGK3 23678 broad.mit.edu 37 8 67734616 67734616 + Silent SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr8:67734616C>T uc003xwr.2 + 6 638 c.339C>T c.(337-339)GTC>GTT p.V113V SGK3_uc003xwp.2_Silent_p.V107V|SGK3_uc003xwt.2_Silent_p.V113V|SGK3_uc003xwu.2_Silent_p.V113V NM_001033578 NP_001028750 Q96BR1 SGK3_HUMAN serum/glucocorticoid regulated kinase 3 isoform 113 PX. cell communication|response to stress cytoplasmic membrane-bounded vesicle|early endosome ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity ovary(1)|large_intestine(1)|lung(1)|breast(1) 4 Breast(64;0.186) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206) GTCCAGATGTCAGAGCATTCC 0.333 NA 12 166 0 0 0.010729 0 0 SAMD12 401474 broad.mit.edu 37 8 119391896 119391896 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr8:119391896C>T uc003yom.2 - 4 495 c.366G>A c.(364-366)ATG>ATA p.M122I SAMD12_uc010mda.1_Missense_Mutation_p.M122I|SAMD12_uc010mdb.1_RNA NM_207506 NP_997389 Q8N8I0 SAM12_HUMAN sterile alpha motif domain containing 12 isoform 122 SAM. ovary(1) 1 all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249) STAD - Stomach adenocarcinoma(47;0.00391) GGGCAATCCCCATTCGCTCGA 0.468 NA 23 132 0 0 0.00333 0 0 ENG 2022 broad.mit.edu 37 9 130581017 130581017 + Missense_Mutation SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr9:130581017G>A uc004bsj.3 - 11 1819 c.1406C>T c.(1405-1407)CCG>CTG p.P469L ENG_uc011mam.1_Missense_Mutation_p.P280L|ENG_uc004bsk.3_Missense_Mutation_p.P469L|uc004bsl.1_Intron NM_001114753 NP_001108225 P17813 EGLN_HUMAN endoglin isoform 1 precursor 469 Ser/Thr-rich.|Extracellular (Potential). artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding 0 CTGCTGCCCCGGCTCGATGGT 0.612 NA Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia 6 124 0 0 0.001984 0 0 ATXN3L 92552 broad.mit.edu 37 X 13337402 13337402 + Missense_Mutation SNP C C G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chrX:13337402C>G uc010ned.2 - 1 1117 c.652G>C c.(652-654)GAG>CAG p.E218Q NM_001135995 NP_001129467 Q9H3M9 ATX3L_HUMAN ataxin 3-like 218 protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity lung(2)|ovary(2)|large_intestine(1)|skin(1) 6 GTTCCAGACTCATCACTTTCT 0.378 NA 12 592 0 0 0.010729 0 0 NDUFB11 54539 broad.mit.edu 37 X 47001817 47001817 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chrX:47001817C>T uc004dhd.2 - 3 892 c.361G>A c.(361-363)GAA>AAA p.E121K NDUFB11_uc004dhc.2_Missense_Mutation_p.E131K|RBM10_uc004dhe.1_5'Flank|RBM10_uc004dhf.2_5'Flank|RBM10_uc004dhg.2_5'Flank|RBM10_uc004dhh.2_5'Flank|RBM10_uc010nhq.2_5'Flank|RBM10_uc004dhi.2_5'Flank NM_001135998 NP_001129470 Q9NX14 NDUBB_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 121 respiratory electron transport chain|transport integral to membrane|mitochondrial respiratory chain complex I 0 CTCTCAGCTTCGCGGCGGGAC 0.552 Ovarian(77;454 1296 7908 21551 37072) NA 3 55 0 0 0.004672 0 0 SYP 6855 broad.mit.edu 37 X 49048091 49048091 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chrX:49048091C>T uc004dmz.1 - 6 761 c.745G>A c.(745-747)GCC>ACC p.A249T SYP_uc011mmz.1_Missense_Mutation_p.A131T|SYP_uc004dna.1_Missense_Mutation_p.A243T NM_003179 NP_003170 P08247 SYPH_HUMAN synaptophysin 249 Cytoplasmic (Potential). regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization cell junction|integral to synaptic vesicle membrane|synaptosome calcium ion binding|cholesterol binding|transporter activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(315;0.00016) TCGCCGTAGGCGTCCCCGGGT 0.706 NA 19 18 0 0 0.008871 0 0 UBQLN2 29978 broad.mit.edu 37 X 56591554 56591554 + Silent SNP T T C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chrX:56591554T>C uc004dus.2 + 1 1483 c.1248T>C c.(1246-1248)TTT>TTC p.F416F UBQLN2_uc011moq.1_Silent_p.F416F NM_013444 NP_038472 Q9UHD9 UBQL2_HUMAN ubiquilin 2 416 cytoplasm|nucleus|plasma membrane binding ovary(1)|skin(1) 2 GCCCGCTGTTTACTGCAAATC 0.527 Esophageal Squamous(104;218 1492 6022 10838 28884) NA 9 22 0 0 0.004482 0 0 DCX 1641 broad.mit.edu 37 X 110654183 110654183 + Missense_Mutation SNP T T C rs150627878 TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chrX:110654183T>C uc004epd.2 - 1 192 c.20A>G c.(19-21)CAT>CGT p.H7R DCX_uc011msv.1_Missense_Mutation_p.H7R|DCX_uc004epe.2_Intron|DCX_uc004epf.2_Intron|DCX_uc004epg.2_Intron NM_000555 NP_000546 O43602 DCX_HUMAN doublecortin isoform a 7 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding central_nervous_system(2)|lung(1)|skin(1) 4 ACAATGACTATGAAGGGGGAG 0.438 NA 70 102 0 0 0.01441 0 0 CRNN 49860 broad.mit.edu 37 1 152382681 152382682 + Frame_Shift_Del DEL TC TC - TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 TC TC - - TC TC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr1:152382681_152382682delTC uc001ezx.2 - 3 950_951 c.876_877delGA c.(874-879)GGGACAfs p.G292fs NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN cornulin 292_293 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGGGTGTGTGTCCCTGCCTGTA 0.609 NA 33 488 --- --- --- --- NA NA NA NA NA LONP1 9361 broad.mit.edu 37 19 5699070 5699071 + Frame_Shift_Ins INS - - C rs147331639 byFrequency TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr19:5699070_5699071insC uc002mcx.2 - 10 1685_1686 c.1652_1653insG c.(1651-1653)GGCfs p.G551fs LONP1_uc002mcy.2_Frame_Shift_Ins_p.G487fs|LONP1_uc010duh.2_Frame_Shift_Ins_p.G292fs|LONP1_uc010dui.2_Frame_Shift_Ins_p.G535fs|LONP1_uc002mcz.2_Frame_Shift_Ins_p.G355fs NM_004793 NP_004784 P36776 LONM_HUMAN mitochondrial lon peptidase 1 precursor 551 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding 0 CGTCAGTCATGCCCCCGACGCT 0.644 NA 8 47 --- --- --- --- NA NA NA NA NA