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 TNFRSF4 7293 broad.mit.edu 37 1 1147438 1147438 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:1147438G>C uc001ade.2 - 5 523 c.518C>G c.(517-519)GCC>GGC p.A173G TNFRSF4_uc001adf.2_Missense_Mutation_p.A177G NM_003327 NP_003318 P43489 TNR4_HUMAN tumor necrosis factor receptor superfamily, 173 Extracellular (Potential). immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation integral to plasma membrane tumor necrosis factor receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GGGCTGCGTGGCTGGGGGGTC 0.687 NA 5 16 0 0 0.001168 0 0 KIF1B 23095 broad.mit.edu 37 1 10423341 10423341 + Silent SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:10423341G>T uc001aqx.3 + 41 4507 c.4305G>T c.(4303-4305)TCG>TCT p.S1435S KIF1B_uc001aqw.3_Silent_p.S1389S|KIF1B_uc001aqy.2_Silent_p.S1409S|KIF1B_uc001aqz.2_Silent_p.S1435S|KIF1B_uc001ara.2_Silent_p.S1395S|KIF1B_uc001arb.2_Silent_p.S1421S NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 1435 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) CTTCAAATAGGAATCGAGTCA 0.363 NA 7 29 0.000442599 0.000490831 0.006214 1 0 LOC440563 440563 broad.mit.edu 37 1 13183522 13183522 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:13183522C>A uc010obg.1 - 1 446 c.351G>T c.(349-351)CGG>CGT p.R117R NM_001136561 NP_001130033 B2RXH8 B2RXH8_HUMAN heterogeneous nuclear ribonucleoprotein C-like 117 ribonucleoprotein complex nucleic acid binding|nucleotide binding 0 CATAATAATCCCGTTGAAAGC 0.522 NA 17 75 3.45872e-05 4.04296e-05 0.004007 1 0 TAS1R2 80834 broad.mit.edu 37 1 19186125 19186125 + Silent SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:19186125G>A uc001bba.1 - 1 31 c.30C>T c.(28-30)TCC>TCT p.S10S NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 10 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GGAAGAACAGGGAGGAGATGG 0.587 NA 6 48 0 0 0.001984 0 0 ALDH4A1 8659 broad.mit.edu 37 1 19199453 19199453 + Splice_Site SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:19199453T>A uc001bbb.2 - 15 1856 c.1580_splice c.e15-1 p.G527_splice ALDH4A1_uc010ocu.1_Intron|ALDH4A1_uc001bbc.2_Intron NM_170726 NP_733844 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4A1 isoform a precursor proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity 0 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) CATTGGTTCCTGCGGAAAAGA 0.567 NA 8 46 0 0 0.00308 0 0 SERINC2 347735 broad.mit.edu 37 1 31898638 31898638 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:31898638G>C uc010ogh.1 + 5 701 c.500G>C c.(499-501)GGC>GCC p.G167A SERINC2_uc010ogg.1_Missense_Mutation_p.G164A|SERINC2_uc009vtw.1_Silent_p.R136R|SERINC2_uc001bst.2_Missense_Mutation_p.G163A|SERINC2_uc001bsu.2_Missense_Mutation_p.G108A|SERINC2_uc001bsv.2_Missense_Mutation_p.G108A NM_178865 NP_849196 Q96SA4 SERC2_HUMAN tumor differentially expressed 2-like 163 Helical; (Potential). integral to membrane 0 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151) TTCTACTTCGGCGTCGTGGGC 0.507 NA 34 115 0 0 0.003271 0 0 LRRC42 115353 broad.mit.edu 37 1 54427706 54427706 + Splice_Site SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:54427706G>T uc001cwj.1 + 5 925 c.725_splice c.e5-1 p.C242_splice LRRC42_uc001cwl.1_Splice_Site_p.C242_splice|LRRC42_uc001cwk.1_Splice_Site_p.C242_splice|LRRC42_uc009vzm.1_Splice_Site_p.C242_splice NM_052940 NP_443172 Q9Y546 LRC42_HUMAN leucine rich repeat containing 42 0 TTGACATCTAGGTAACCCTGA 0.378 NA 9 24 2.17888e-05 2.56426e-05 0.006214 1 0 LHX8 431707 broad.mit.edu 37 1 75596413 75596413 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:75596413G>C uc001dgo.2 + 2 678 c.14G>C c.(13-15)AGC>ACC p.S5T uc001dgp.1_RNA NM_001001933 NP_001001933 Q68G74 LHX8_HUMAN LIM homeobox 8 5 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 CAGATTCTGAGCAGGGTAAGT 0.448 NA 14 67 0 0 0.004007 0 0 AK5 26289 broad.mit.edu 37 1 77806129 77806129 + Missense_Mutation SNP A A G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:77806129A>G uc001dhn.2 + 6 1024 c.767A>G c.(766-768)AAG>AGG p.K256R AK5_uc001dho.2_Missense_Mutation_p.K230R NM_174858 NP_777283 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 isoform 1 256 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity skin(1) 1 AGATTACTGAAGCGTGCAGAA 0.453 NA 17 60 0 0 0.007413 0 0 PTGFR 5737 broad.mit.edu 37 1 79002247 79002247 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:79002247G>T uc001din.2 + 3 1221 c.955G>T c.(955-957)GCC>TCC p.A319S PTGFR_uc001dim.2_3'UTR NM_000959 NP_000950 P43088 PF2R_HUMAN prostaglandin F receptor isoform a precursor 319 Cytoplasmic (Potential). parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity ovary(3)|breast(2)|skin(1) 6 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) CTATAAGCTTGCCAGTCAATG 0.393 NA 9 40 2.17888e-05 2.56426e-05 0.006214 1 0 GBP3 2635 broad.mit.edu 37 1 89477519 89477519 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:89477519G>T uc001dmt.2 - 7 1265 c.1060C>A c.(1060-1062)CTG>ATG p.L354M GBP3_uc010oss.1_Missense_Mutation_p.L275M|GBP3_uc001dmu.2_Missense_Mutation_p.L220M|GBP3_uc001dmv.2_Intron NM_018284 NP_060754 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 354 integral to membrane GTP binding|GTPase activity ovary(1)|pancreas(1) 2 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) ACCCTGTGCAGGTCCAGCAGC 0.502 NA 24 54 5.35356e-11 7.5298e-11 0.00278 1 0 GFI1 2672 broad.mit.edu 37 1 92948583 92948583 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:92948583C>A uc001dou.3 - 3 300 c.136G>T c.(136-138)GGG>TGG p.G46W GFI1_uc001dov.3_Missense_Mutation_p.G46W|GFI1_uc001dow.3_Missense_Mutation_p.G46W NM_001127215 NP_001120687 Q99684 GFI1_HUMAN growth factor independent 1 46 negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(1) 1 all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203) OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191) GCCTTCGCCCCGCCTGCATTT 0.657 NA 3 45 1.23904e-05 1.47322e-05 0.000602 1 0 C1orf88 128344 broad.mit.edu 37 1 111892810 111892810 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:111892810G>C uc001eaw.2 + 5 552 c.472G>C c.(472-474)GTT>CTT p.V158L C1orf88_uc001eax.2_Missense_Mutation_p.V125L|C1orf88_uc009wge.1_Missense_Mutation_p.G81A|C1orf88_uc001eay.2_Missense_Mutation_p.V71L NM_181643 NP_857594 Q8TCI5 CA088_HUMAN hypothetical protein LOC128344 158 ovary(1)|skin(1) 2 all_cancers(81;3.21e-05)|all_epithelial(167;1.19e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0239)|Colorectal(144;0.0301)|all cancers(265;0.0677)|Epithelial(280;0.0897)|COAD - Colon adenocarcinoma(174;0.116)|LUSC - Lung squamous cell carcinoma(189;0.135) CTGGGCTCAGGTTCCATGTCT 0.398 NA 24 101 0 0 0.00278 0 0 TBX15 6913 broad.mit.edu 37 1 119427921 119427921 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:119427921C>A uc001ehl.1 - 8 1240 c.925G>T c.(925-927)GGG>TGG p.G309W TBX15_uc009whj.1_Missense_Mutation_p.G133W NM_152380 NP_689593 Q96SF7 TBX15_HUMAN T-box 15 415 nucleus DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1) 2 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) TCACTCAGCCCTGGGTAGCTC 0.537 NA 19 32 1.56452e-12 2.30351e-12 0.007413 1 0 LCE1B 353132 broad.mit.edu 37 1 152785055 152785055 + Missense_Mutation SNP A A G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:152785055A>G uc001faq.2 + 1 609 c.133A>G c.(133-135)AGT>GGT p.S45G NM_178349 NP_848126 Q5T7P3 LCE1B_HUMAN late cornified envelope 1B 45 keratinization 0 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TTCCTGCTGCAGTGTCAGCTC 0.522 NA 29 198 0 0 0.008361 0 0 S100A8 6279 broad.mit.edu 37 1 153362715 153362715 + Missense_Mutation SNP T T C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:153362715T>C uc001fbs.2 - 3 201 c.146A>G c.(145-147)AAG>AGG p.K49R NM_002964 NP_002955 P05109 S10A8_HUMAN S100 calcium-binding protein A8 49 EF-hand 2. chemotaxis cytoplasm|cytoskeleton|plasma membrane calcium ion binding|protein binding 0 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) GTCTGCACCCTTTTTCTGTCA 0.507 NA 4 169 0 0 0.000602 0 0 SHC1 6464 broad.mit.edu 37 1 154942963 154942963 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:154942963G>A uc001ffv.2 - 1 261 c.40C>T c.(40-42)CGG>TGG p.R14W SHC1_uc001ffz.1_5'Flank|SHC1_uc001ffw.2_Missense_Mutation_p.R14W|SHC1_uc001ffx.2_Intron|SHC1_uc001ffy.2_Intron NM_183001 NP_892113 P29353 SHC1_HUMAN SHC-transforming protein 1 isoform 1 14 activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity lung(1)|skin(1) 2 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) GACTCATTCCGGAGTGGATTG 0.642 NSCLC(4;32 234 1864 2492 3259 13747 17376) NA 10 144 0 0 0.008291 0 0 C1orf129 80133 broad.mit.edu 37 1 170931105 170931105 + Silent SNP A A C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:170931105A>C uc001ghg.2 + 6 493 c.363A>C c.(361-363)CTA>CTC p.L121L C1orf129_uc009wvy.2_5'UTR|C1orf129_uc010plz.1_Silent_p.L121L NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 121 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TCTACAAACTACAGATCTTAA 0.308 NA 4 16 0 0 0.000602 0 0 CRB1 23418 broad.mit.edu 37 1 197396748 197396748 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:197396748G>T uc001gtz.2 + 7 2428 c.2293G>T c.(2293-2295)GTC>TTC p.V765F CRB1_uc010poz.1_Missense_Mutation_p.V696F|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.V653F|CRB1_uc010ppb.1_Intron|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.V246F|CRB1_uc001gub.1_Missense_Mutation_p.V414F NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 765 Extracellular (Potential).|Laminin G-like 2. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 ATATATCCGTGTCTGGCTAGA 0.428 NA 10 25 9.70103e-10 1.33727e-09 0.008291 1 0 PKP1 5317 broad.mit.edu 37 1 201291167 201291167 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:201291167C>A uc001gwd.2 + 9 1723 c.1472C>A c.(1471-1473)CCC>CAC p.P491H PKP1_uc001gwe.2_Missense_Mutation_p.P470H|PKP1_uc009wzm.2_Missense_Mutation_p.P78H NM_000299 NP_000290 Q13835 PKP1_HUMAN plakophilin 1 isoform 1b 491 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis ovary(2) 2 GCCGAGGTGCCCACCCGCTAC 0.607 NA 16 39 0.00316338 0.00340975 0.003163 1 0 OPTC 26254 broad.mit.edu 37 1 203472092 203472092 + Silent SNP T T C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:203472092T>C uc001gzu.1 + 6 899 c.783T>C c.(781-783)TCT>TCC p.S261S NM_014359 NP_055174 Q9UBM4 OPT_HUMAN opticin precursor 261 LRR 4. proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding 0 BRCA - Breast invasive adenocarcinoma(75;0.109) TGCTGGATTCTATCCCGGGGC 0.557 NA 12 47 0 0 0.000978 0 0 NFASC 23114 broad.mit.edu 37 1 204948500 204948500 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:204948500C>T uc001hbj.2 + 19 2317 c.1989C>T c.(1987-1989)GTC>GTT p.V663V NFASC_uc010pra.1_Silent_p.V659V|NFASC_uc001hbi.2_Silent_p.V659V|NFASC_uc010prb.1_Silent_p.V674V|NFASC_uc010prc.1_Silent_p.V230V|NFASC_uc001hbk.1_Silent_p.V469V|NFASC_uc001hbl.1_5'Flank NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 663 Extracellular (Potential).|Fibronectin type-III 1. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) ACTACGTCGTCCAGTTTGAAG 0.458 NA 40 68 0 0 0.006999 0 0 KCNH1 3756 broad.mit.edu 37 1 210857201 210857201 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:210857201C>T uc001hib.2 - 11 2562 c.2392G>A c.(2392-2394)GTA>ATA p.V798I KCNH1_uc001hic.2_Missense_Mutation_p.V771I NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 798 Cytoplasmic (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TGGAAGGATACGGGCGTGGCA 0.662 NA 12 123 0 0 0.001368 0 0 KCNK2 3776 broad.mit.edu 37 1 215342574 215342574 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:215342574G>A uc001hkq.2 + 4 677 c.508G>A c.(508-510)GGC>AGC p.G170S KCNK2_uc001hko.2_Missense_Mutation_p.G166S|KCNK2_uc009xdm.2_RNA|KCNK2_uc001hkp.2_RNA|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Missense_Mutation_p.G155S NM_001017425 NP_001017425 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 isoform 170 outward rectifier potassium channel activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) CACAGAAGGCGGCAAAATATT 0.269 NA 6 44 0 0 0.001168 0 0 USH2A 7399 broad.mit.edu 37 1 215813954 215813954 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:215813954G>T uc001hku.1 - 68 15301 c.14914C>A c.(14914-14916)CGC>AGC p.R4972S NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4972 Fibronectin type-III 35.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTGTACACGCGTCGCCCTCCG 0.542 NA HNSCC(13;0.011) 13 38 7.03913e-09 9.40362e-09 0.001368 1 0 CDC42BPA 8476 broad.mit.edu 37 1 227268619 227268619 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:227268619C>A uc001hqr.2 - 17 3398 c.2455G>T c.(2455-2457)GCC>TCC p.A819S CDC42BPA_uc001hqq.2_Missense_Mutation_p.A83S|CDC42BPA_uc001hqs.2_Missense_Mutation_p.A738S|CDC42BPA_uc009xes.2_Missense_Mutation_p.A819S|CDC42BPA_uc010pvs.1_Missense_Mutation_p.A819S|CDC42BPA_uc001hqp.2_5'UTR|CDC42BPA_uc001hqu.1_5'UTR NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 819 Potential. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) GTGATTTGGGCTTCCCAATGT 0.388 NA 14 139 4.36969e-10 6.07194e-10 0.001855 1 0 CDC42BPA 8476 broad.mit.edu 37 1 227348297 227348297 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:227348297G>C uc001hqr.2 - 6 1583 c.640C>G c.(640-642)CAT>GAT p.H214D CDC42BPA_uc001hqs.2_Missense_Mutation_p.H214D|CDC42BPA_uc009xes.2_Missense_Mutation_p.H214D|CDC42BPA_uc010pvs.1_Missense_Mutation_p.H214D NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 214 Protein kinase. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) AACCGAATATGTCCATTCATA 0.299 NA 71 56 0 0 0.00361 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232534943 232534943 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:232534943G>T uc001hvg.2 - 21 5257 c.5099C>A c.(5098-5100)TCC>TAC p.S1700Y SIPA1L2_uc001hvf.2_Missense_Mutation_p.S756Y NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1700 Potential. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CGCGGTCTGGGACTCCTCCTG 0.502 NA 4 44 0.000602214 0.000665707 0.000602 1 0 RYR2 6262 broad.mit.edu 37 1 237995907 237995907 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:237995907G>T uc001hyl.1 + 105 14984 c.14864G>T c.(14863-14865)GGG>GTG p.G4955V RYR2_uc010pyb.1_3'UTR NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4955 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTCCCAGCAGGGGATTGCTTC 0.413 NA 6 16 0.00116845 0.00127534 0.001168 1 0 WDR64 128025 broad.mit.edu 37 1 241901781 241901781 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:241901781G>C uc001hze.1 + 10 1488 c.1281G>C c.(1279-1281)ATG>ATC p.M427I WDR64_uc001hzf.1_Missense_Mutation_p.M147I B1ANS9 WDR64_HUMAN RecName: Full=WD repeat-containing protein 64; 427 WD 5. skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) ATCATGGCATGCTTATTACGG 0.368 NA 7 22 0 0 0.001984 0 0 WDR64 128025 broad.mit.edu 37 1 241904880 241904880 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:241904880C>A uc001hze.1 + 11 1561 c.1354C>A c.(1354-1356)CAC>AAC p.H452N WDR64_uc001hzf.1_Missense_Mutation_p.H172N B1ANS9 WDR64_HUMAN RecName: Full=WD repeat-containing protein 64; 452 skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) ACAGGTTCCTCACACTCATGA 0.343 NA 11 20 0.00829132 0.00879999 0.008291 1 0 WDR64 128025 broad.mit.edu 37 1 241907716 241907716 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:241907716C>A uc001hze.1 + 12 1669 c.1462C>A c.(1462-1464)CTC>ATC p.L488I WDR64_uc001hzf.1_Missense_Mutation_p.L208I B1ANS9 WDR64_HUMAN RecName: Full=WD repeat-containing protein 64; 488 WD 6. skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) CGAGACTGGGCTCCAAGTATA 0.398 NA 12 41 5.50884e-06 6.64132e-06 0.001368 1 0 OR2C3 81472 broad.mit.edu 37 1 247695565 247695565 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr1:247695565C>A uc009xgy.2 - 2 611 c.249G>T c.(247-249)CTG>CTT p.L83L C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank NM_198074 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, 83 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) AGAGGTTAGCCAGGAGCTGTG 0.542 NA 15 39 2.32078e-09 3.16138e-09 0.003163 1 0 ITIH5 80760 broad.mit.edu 37 10 7621754 7621754 + Missense_Mutation SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:7621754A>T uc001ijq.2 - 9 1461 c.1382T>A c.(1381-1383)GTG>GAG p.V461E ITIH5_uc001ijp.2_Missense_Mutation_p.V247E|ITIH5_uc001ijr.1_Missense_Mutation_p.V461E NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 461 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 CTCCTCGTGCACGCGCCGTGT 0.622 NA 13 95 0 0 0.001855 0 0 SLC39A12 221074 broad.mit.edu 37 10 18250582 18250582 + Missense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:18250582C>G uc001ipo.2 + 3 607 c.334C>G c.(334-336)CAG>GAG p.Q112E SLC39A12_uc001ipn.2_Missense_Mutation_p.Q112E|SLC39A12_uc001ipp.2_Missense_Mutation_p.Q112E|SLC39A12_uc010qck.1_5'UTR NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 112 Extracellular (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 AGAAGTGGTCCAGAGAGTTTC 0.348 NA 25 51 0 0 0.003954 0 0 ARMC3 219681 broad.mit.edu 37 10 23321943 23321943 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:23321943G>T uc001irm.3 + 18 2483 c.2400G>T c.(2398-2400)TTG>TTT p.L800F ARMC3_uc010qcv.1_Missense_Mutation_p.L793F|ARMC3_uc010qcw.1_Missense_Mutation_p.L537F NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 800 binding 0 ATCGAGCTTTGCTTTTCAAGG 0.363 NA 5 53 0.00198382 0.002145 0.001984 1 0 LOC387646 387646 broad.mit.edu 37 10 27538184 27538184 + Silent SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:27538184A>T uc001its.2 - 1 3052 c.1209T>A c.(1207-1209)TCT>TCA p.S403S NR_003525 SubName: Full=cDNA FLJ44924 fis, clone BRAMY3014555; 0 CCGTGGTTGGAGACGGTTTAA 0.532 NA 51 193 0 0 0.00361 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702213 27702213 + Silent SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:27702213G>T uc001itu.2 - 1 1085 c.967C>A c.(967-969)CGG>AGG p.R323R NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 323 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 TACAGCAGCCGCATGGCTTTG 0.562 NA 59 116 1.93748e-29 3.1771e-29 0.00361 1 0 ITGB1 3688 broad.mit.edu 37 10 33217116 33217116 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:33217116C>A uc001iws.3 - 5 589 c.453G>T c.(451-453)CTG>CTT p.L151L ITGB1_uc001iwp.3_Silent_p.L151L|ITGB1_uc001iwq.3_Silent_p.L151L|ITGB1_uc001iwr.3_Silent_p.L151L|ITGB1_uc001iwt.3_Silent_p.L151L|ITGB1_uc001iwu.1_Silent_p.L151L NM_133376 NP_596867 P05556 ITB1_HUMAN integrin beta 1 isoform 1A precursor 151 Extracellular (Potential).|VWFA. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(717;1.34e-05)|Breast(68;0.0634) TTGAGTAAGACAGGTCCATAA 0.378 NA 15 102 0.000308642 0.000344484 0.003163 1 0 GDF2 2658 broad.mit.edu 37 10 48413613 48413613 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:48413613C>T uc001jfa.1 - 2 1418 c.1255G>A c.(1255-1257)GAG>AAG p.E419K NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 419 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 CTCATGCCCTCGTAATGGTAC 0.617 NA 9 12 0 0 0.006214 0 0 NEUROG3 50674 broad.mit.edu 37 10 71332454 71332454 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:71332454C>A uc001jpp.2 - 2 504 c.346G>T c.(346-348)GAC>TAC p.D116Y NM_020999 NP_066279 Q9Y4Z2 NGN3_HUMAN neurogenin 3 116 Helix-loop-helix motif. central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus transcription coactivator activity 0 AGCTTCGCGTCGTCTGGGAAG 0.622 NA 7 43 8.12818e-05 9.22083e-05 0.001984 1 0 NEUROG3 50674 broad.mit.edu 37 10 71332668 71332668 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:71332668C>T uc001jpp.2 - 2 290 c.132G>A c.(130-132)GGG>GGA p.G44G NM_020999 NP_066279 Q9Y4Z2 NGN3_HUMAN neurogenin 3 44 central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus transcription coactivator activity 0 CTGCGCAGTTCCCCCGTGTGC 0.711 NA 14 22 0 0 0.00245 0 0 DYDC1 143241 broad.mit.edu 37 10 82102070 82102070 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:82102070C>T uc001kbx.2 - 5 462 c.297G>A c.(295-297)AGG>AGA p.R99R DYDC1_uc001kby.1_Silent_p.R99R|DYDC1_uc009xsr.1_Silent_p.R99R|DYDC2_uc001kbz.1_5'Flank|DYDC2_uc001kca.1_5'Flank NM_138812 NP_620167 Q8WWB3 DYDC1_HUMAN DPY30 domain containing 1 99 0 Colorectal(32;0.229) GTATTCTCTGCCTCTCCTTTT 0.323 NA 12 53 0 0 0.000978 0 0 MYOF 26509 broad.mit.edu 37 10 95129512 95129512 + Missense_Mutation SNP C C T rs149848851 by1000genomes TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:95129512C>T uc001kin.2 - 25 2602 c.2479G>A c.(2479-2481)GGG>AGG p.G827R MYOF_uc001kio.2_Missense_Mutation_p.G814R|MYOF_uc009xue.2_RNA NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 827 Cytoplasmic (Potential). blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 ACCTTTGGCCCGTTGTTTTTC 0.443 NA 6 27 0 0 0.001168 0 0 TACC2 10579 broad.mit.edu 37 10 123976300 123976300 + Silent SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:123976300G>C uc001lfv.2 + 11 7863 c.7503G>C c.(7501-7503)CTG>CTC p.L2501L TACC2_uc001lfw.2_Silent_p.L647L|TACC2_uc009xzx.2_Silent_p.L2456L|TACC2_uc010qtv.1_Silent_p.L2505L|TACC2_uc001lfx.2_Silent_p.L205L|TACC2_uc001lfy.2_Silent_p.L201L|TACC2_uc001lfz.2_Silent_p.L579L|TACC2_uc001lga.2_Silent_p.L579L|TACC2_uc009xzy.2_Silent_p.L591L|TACC2_uc001lgb.2_Silent_p.L536L|TACC2_uc010qtw.1_Silent_p.L596L NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 2501 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CCTCGGACCTGTCCACCTTTG 0.562 NA 25 80 0 0 0.00333 0 0 MKI67 4288 broad.mit.edu 37 10 129900995 129900995 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:129900995C>T uc001lke.2 - 13 9304 c.9109G>A c.(9109-9111)GCA>ACA p.A3037T MKI67_uc001lkf.2_Missense_Mutation_p.A2677T|MKI67_uc009yav.1_Missense_Mutation_p.A2612T|MKI67_uc009yaw.1_Missense_Mutation_p.A2187T NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 3037 ATP (Potential). cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TTGCCTCTTGCCCTGGGAGCA 0.537 NA 4 90 0 0 0.009096 0 0 TCERG1L 256536 broad.mit.edu 37 10 132965122 132965122 + Missense_Mutation SNP C C T rs145806750 by1000genomes TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:132965122C>T uc001lkp.2 - 5 969 c.883G>A c.(883-885)GCC>ACC p.A295T TCERG1L_uc009yax.1_RNA NM_174937 NP_777597 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 295 large_intestine(2)|ovary(2) 4 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) GGAGGGCGGGCCACTCGGCCC 0.512 NA 10 29 0 0 0.008291 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629050 1629050 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:1629050C>A uc001ltw.1 - 1 644 c.566G>T c.(565-567)TGC>TTC p.C189F NM_001012708 NP_001012726 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 189 11 X 4 AA repeats of C-C-X-P.|8. keratin filament ovary(2) 2 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) gggtttgcagcagctggactg 0.1 NA 110 226 3.35719e-51 5.72211e-51 0.00361 1 0 OR51A4 401666 broad.mit.edu 37 11 4967817 4967817 + Nonsense_Mutation SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:4967817T>A uc010qys.1 - 1 514 c.514A>T c.(514-516)AAG>TAG p.K172* NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, 172 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGTTTTTCTTGCAATATCTC 0.413 NA 24 223 0 0 0.00278 0 0 OR51A2 401667 broad.mit.edu 37 11 4976042 4976042 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:4976042C>A uc010qyt.1 - 1 902 c.902G>T c.(901-903)AGA>ATA p.R301I NM_001004748 NP_001004748 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, 301 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AACTCTCACTCTAATCTGTTT 0.353 NA 50 28 8.99859e-20 1.4348e-19 0.00361 1 0 OR52N4 390072 broad.mit.edu 37 11 5776344 5776344 + Missense_Mutation SNP A A G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:5776344A>G uc001mbu.2 + 1 422 c.374A>G c.(373-375)TAT>TGT p.Y125C TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, 125 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) CTGGATCGCTATGTGGCCATC 0.488 NA 42 84 0 0 0.002522 0 0 OR52E6 390078 broad.mit.edu 37 11 5862466 5862466 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:5862466C>A uc010qzq.1 - 1 662 c.662G>T c.(661-663)AGG>ATG p.R221M TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, 221 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATAGAGGATCCTGATATGGGA 0.463 NA 10 31 0.00621372 0.00663563 0.006214 1 0 PRKCDBP 112464 broad.mit.edu 37 11 6341340 6341340 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:6341340G>A uc001mcu.1 - 1 401 c.367C>T c.(367-369)CAC>TAC p.H123Y NM_145040 NP_659477 Q969G5 PRDBP_HUMAN protein kinase C, delta binding protein 123 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGCAGAACGTGGAGCTTCCCG 0.706 NA 3 18 0 0 0.009096 0 0 DCHS1 8642 broad.mit.edu 37 11 6648071 6648071 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:6648071G>A uc001mem.1 - 14 6609 c.6199C>T c.(6199-6201)CGC>TGC p.R2067C NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 2067 Cadherin 19.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGGGGAAAGCGGGGTCCACGC 0.597 NA 9 25 0 0 0.006214 0 0 NLRP14 338323 broad.mit.edu 37 11 7065050 7065050 + Missense_Mutation SNP C C A rs148807230 TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:7065050C>A uc001mfb.1 + 4 2116 c.1793C>A c.(1792-1794)GCA>GAA p.A598E NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 598 cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) ATAAGCCAGGCAATGAGATGT 0.408 NA 28 55 6.38683e-12 9.24621e-12 0.008361 1 0 PTPN5 84867 broad.mit.edu 37 11 18764013 18764013 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:18764013G>T uc001mpd.2 - 7 952 c.521C>A c.(520-522)ACC>AAC p.T174N PTPN5_uc001mpb.2_Missense_Mutation_p.T142N|PTPN5_uc001mpc.2_Missense_Mutation_p.T174N|PTPN5_uc001mpe.2_Missense_Mutation_p.T142N|PTPN5_uc010rdj.1_Missense_Mutation_p.T118N|PTPN5_uc001mpf.2_Missense_Mutation_p.T150N|PTPN5_uc010rdk.1_Missense_Mutation_p.T119N NM_006906 NP_008837 P54829 PTN5_HUMAN protein-tyrosine-phosphatase non-receptor 5 174 integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity ovary(2) 2 GGGCAGTGGGGTGGGTGGCTC 0.632 NA 19 52 1.10923e-09 1.52299e-09 0.00278 1 0 E2F8 79733 broad.mit.edu 37 11 19252381 19252381 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:19252381C>A uc001mpm.2 - 8 1589 c.1067G>T c.(1066-1068)GGC>GTC p.G356V E2F8_uc009yhv.2_Intron|E2F8_uc001mpn.3_Missense_Mutation_p.G356V NM_024680 NP_078956 A0AVK6 E2F8_HUMAN E2F family member 8 356 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 TGGGCTGGAGCCTGAAACAGA 0.403 NA 11 24 4.68919e-08 6.12249e-08 0.008291 1 0 BDNF 627 broad.mit.edu 37 11 27680088 27680088 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:27680088C>T uc010rdu.1 - 2 875 c.24G>A c.(22-24)ATG>ATA p.M8I BDNFOS_uc001mrm.2_Intron|BDNFOS_uc009yij.2_RNA|BDNFOS_uc009yik.2_Intron|BDNFOS_uc009yil.2_RNA|BDNFOS_uc001mrp.2_Intron|BDNFOS_uc009yim.2_RNA|BDNFOS_uc009yin.2_Intron|BDNFOS_uc009yio.2_RNA|BDNFOS_uc009yip.2_RNA|BDNFOS_uc001mrn.2_Intron|BDNFOS_uc009yiq.2_RNA|BDNFOS_uc001mro.2_Intron|BDNFOS_uc009yir.2_RNA|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_Intron|BDNFOS_uc009yiu.2_RNA|BDNFOS_uc009yiv.2_Intron|BDNFOS_uc009yiw.2_RNA|BDNFOS_uc009yix.2_Intron|BDNFOS_uc009yiy.2_RNA|BDNFOS_uc009yiz.2_RNA|BDNFOS_uc001mrq.3_Intron|BDNFOS_uc001mrr.3_Intron|BDNFOS_uc009yja.2_Intron|BDNFOS_uc009yjb.2_RNA|BDNF_uc010rdv.1_Missense_Mutation_p.M8I|BDNF_uc001mrt.2_Missense_Mutation_p.M23I|BDNF_uc010rdw.1_Missense_Mutation_p.M8I|BDNF_uc009yjd.2_Missense_Mutation_p.M8I|BDNF_uc001mru.2_Missense_Mutation_p.M8I|BDNF_uc010rdx.1_Missense_Mutation_p.M8I|BDNF_uc010rdy.1_Missense_Mutation_p.M8I|BDNF_uc009yjg.2_Missense_Mutation_p.M8I|BDNF_uc009yje.2_Missense_Mutation_p.M90I|BDNF_uc009yjf.2_Missense_Mutation_p.M37I|BDNF_uc001mrv.2_Missense_Mutation_p.M8I|BDNF_uc001mrw.3_Missense_Mutation_p.M8I|BDNF_uc001mrx.2_Missense_Mutation_p.M8I|BDNF_uc001mry.3_Missense_Mutation_p.M8I|BDNF_uc001mrz.3_Missense_Mutation_p.M8I|BDNF_uc001msa.2_Missense_Mutation_p.M16I NM_001143816 NP_001137288 P23560 BDNF_HUMAN brain-derived neurotrophic factor isoform a 8 extracellular region growth factor activity 0 ATGAAATAACCATAGTAAGGA 0.493 NA 31 84 0 0 0.002445 0 0 OR5D16 390144 broad.mit.edu 37 11 55607071 55607071 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:55607071G>T uc010rio.1 + 1 844 c.844G>T c.(844-846)GTG>TTG p.V282L NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 282 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V282M(1) ovary(4)|skin(1) 5 all_epithelial(135;0.208) GTTTTACACCGTGGTGATCCC 0.413 NA 13 52 0.000151284 0.00017106 0.001855 1 0 OR8K1 390157 broad.mit.edu 37 11 56113889 56113889 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:56113889C>A uc010rjg.1 + 1 375 c.375C>A c.(373-375)GCC>GCA p.A125A NM_001002907 NP_001002907 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, 125 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) CAGCAATGGCCTATGATCGCT 0.403 NA HNSCC(65;0.19) 46 116 5.2432e-18 8.32178e-18 0.00361 1 0 OR9G9 504191 broad.mit.edu 37 11 56468517 56468517 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:56468517C>T uc010rjn.1 + 1 654 c.654C>T c.(652-654)CTC>CTT p.L218L NM_001013358 NP_001013376 P0C7N8 OR9G9_HUMAN olfactory receptor, family 9, subfamily G, 218 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCTCCTACCTCTTTATCATCA 0.527 NA 9 178 0 0 0.004007 0 0 SYT7 9066 broad.mit.edu 37 11 61300564 61300564 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:61300564G>C uc001nrv.2 - 4 254 c.248C>G c.(247-249)GCC>GGC p.A83G SYT7_uc009ynr.2_Missense_Mutation_p.A158G NM_004200 NP_004191 O43581 SYT7_HUMAN synaptotagmin VII 83 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity ovary(3)|pancreas(1) 4 TGGCACGGGGGCTGTGTTCAC 0.662 NA 12 51 0 0 0.00245 0 0 SCGB1D4 404552 broad.mit.edu 37 11 62065047 62065047 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:62065047C>T uc001ntd.1 - 2 193 c.139G>A c.(139-141)GCC>ACC p.A47T NM_206998 NP_996881 Q6XE38 SG1D4_HUMAN secretoglobin family 1D member 4 precursor 47 extracellular region binding 0 TTAAGTTTGGCAACTTGGAGG 0.448 NA 29 147 0 0 0.005443 0 0 TSGA10IP 254187 broad.mit.edu 37 11 65721153 65721153 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:65721153G>A uc001ogk.1 + 7 1299 c.1267G>A c.(1267-1269)GCA>ACA p.A423T TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_RNA NM_152762 NP_689975 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein 423 Potential. 0 GGCAGCCTACGCACCCAGAGG 0.741 NA 21 28 0 0 0.008871 0 0 NUDT8 254552 broad.mit.edu 37 11 67396390 67396390 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:67396390C>T uc001omo.1 - 2 346 c.327G>A c.(325-327)CCG>CCA p.P109P NUDT8_uc001omn.2_Silent_p.P109P NM_181843 NP_862826 Q8WV74 NUDT8_HUMAN nudix-type motif 8 109 Nudix hydrolase. mitochondrion hydrolase activity|metal ion binding 0 AGTGGCTTACCGGATCATACA 0.662 NA 18 54 0 0 0.007413 0 0 LRRC32 2615 broad.mit.edu 37 11 76371795 76371795 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:76371795G>T uc001oxq.3 - 3 1085 c.842C>A c.(841-843)ACA>AAA p.T281K LRRC32_uc001oxr.3_Missense_Mutation_p.T281K|LRRC32_uc010rsf.1_Missense_Mutation_p.T281K NM_005512 NP_005503 Q14392 LRC32_HUMAN leucine rich repeat containing 32 precursor 281 LRR 10.|Extracellular (Potential). integral to plasma membrane 0 GGGTGGCCCTGTGGGGAGCCG 0.657 NA 27 25 4.72057e-08 6.14029e-08 0.003954 1 0 ME3 10873 broad.mit.edu 37 11 86209034 86209034 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:86209034C>T uc001pbz.2 - 5 930 c.676G>A c.(676-678)GTG>ATG p.V226M ME3_uc001pca.2_Missense_Mutation_p.V226M|ME3_uc009yvk.2_Missense_Mutation_p.V226M|ME3_uc010rtr.1_RNA NM_001014811 NP_001014811 Q16798 MAON_HUMAN mitochondrial malic enzyme 3 precursor 226 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding ovary(1) 1 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) TCCAGCAGCACAGGGAGGCAC 0.647 NA 60 48 0 0 0.00361 0 0 ZBTB16 7704 broad.mit.edu 37 11 113935030 113935030 + Silent SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:113935030G>C uc001pop.2 + 2 1272 c.1008G>C c.(1006-1008)GTG>GTC p.V336V ZBTB16_uc001poo.1_Silent_p.V336V|ZBTB16_uc001poq.2_Silent_p.V336V NM_006006 NP_005997 Q05516 ZBT16_HUMAN promyelocytic leukemia zinc finger protein 336 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) TCTACTCCGTGTTGCCCAACC 0.652 NA 34 35 0 0 0.002836 0 0 FAM55A 120400 broad.mit.edu 37 11 114393211 114393211 + Missense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:114393211C>G uc001ppa.2 - 6 1114 c.697G>C c.(697-699)GAT>CAT p.D233H FAM55A_uc010rxd.1_Missense_Mutation_p.D82H NM_152315 NP_689528 Q8N323 FA55A_HUMAN hypothetical protein LOC120400 375 extracellular region 0 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106) TCATGAAGATCAAAAAACTTC 0.303 NA 23 9 0 0 0.001882 0 0 MCAM 4162 broad.mit.edu 37 11 119181596 119181596 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:119181596G>A uc001pwf.2 - 14 1692 c.1663C>T c.(1663-1665)CCG>TCG p.P555S MCAM_uc001pwg.1_RNA NM_006500 NP_006491 P43121 MUC18_HUMAN melanoma cell adhesion molecule 555 Extracellular (Potential). anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane ovary(2)|breast(1)|central_nervous_system(1) 4 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) CGGCTCTCCGGCTCCGGCAGC 0.622 NA 14 112 0 0 0.004007 0 0 MCAM 4162 broad.mit.edu 37 11 119185575 119185575 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:119185575G>T uc001pwf.2 - 3 397 c.368C>A c.(367-369)TCC>TAC p.S123Y NM_006500 NP_006491 P43121 MUC18_HUMAN melanoma cell adhesion molecule 123 Extracellular (Potential).|Ig-like V-type 1. anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane ovary(2)|breast(1)|central_nervous_system(1) 4 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) GTACTCCTGGGACCGAGGGCG 0.642 NA 34 37 4.31634e-10 6.02199e-10 0.002445 1 0 OR8D2 283160 broad.mit.edu 37 11 124189266 124189266 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:124189266C>T uc010sah.1 - 1 828 c.828G>A c.(826-828)GTG>GTA p.V276V NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, 276 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|pancreas(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TGATGTAGAACACAGAAGACA 0.433 NA 18 101 0 0 0.006122 0 0 NTM 50863 broad.mit.edu 37 11 132016251 132016251 + Silent SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr11:132016251G>A uc001qgp.2 + 2 907 c.243G>A c.(241-243)AAG>AAA p.K81K NTM_uc001qgm.2_Silent_p.K81K|NTM_uc010sch.1_Silent_p.K72K|NTM_uc010sci.1_Silent_p.K81K|NTM_uc010scj.1_Silent_p.K40K|NTM_uc001qgo.2_Silent_p.K81K|NTM_uc001qgq.2_Silent_p.K81K NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 81 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 GGAATGACAAGTGGTGCCTGG 0.567 NA 42 39 0 0 0.00874 0 0 IQSEC3 440073 broad.mit.edu 37 12 283807 283807 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:283807G>T uc001qhw.1 + 11 2254 c.2248G>T c.(2248-2250)GGG>TGG p.G750W NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 1053 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) GCACAACTCCGGGCTGGGGGC 0.617 NA 14 12 4.14922e-12 6.03206e-12 0.004007 1 0 NOP2 4839 broad.mit.edu 37 12 6672656 6672656 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:6672656C>T uc001qph.1 - 8 881 c.701G>A c.(700-702)CGA>CAA p.R234Q NOP2_uc009zeq.1_5'UTR|NOP2_uc001qpi.1_Missense_Mutation_p.R234Q|NOP2_uc001qpj.1_Intron NM_001033714 NP_001028886 P46087 NOP2_HUMAN nucleolar protein 1, 120kDa 238 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity ovary(2) 2 CTTGTGAACTCGTTGCAGGTC 0.547 NA OREG0021630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 17 0 0 0.009096 0 0 FAM90A1 55138 broad.mit.edu 37 12 8374735 8374735 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:8374735C>T uc001qui.2 - 7 1637 c.1078G>A c.(1078-1080)GAC>AAC p.D360N FAM90A1_uc001quh.2_Missense_Mutation_p.D360N NM_018088 NP_060558 Q86YD7 F90A1_HUMAN hypothetical protein LOC55138 360 nucleic acid binding|zinc ion binding ovary(1) 1 Kidney(36;0.0866) GGCTGCCGGTCGCCGCTAAGC 0.677 NA 5 57 0 0 0.001168 0 0 IPO8 10526 broad.mit.edu 37 12 30792602 30792602 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:30792602C>A uc001rjd.2 - 21 2506 c.2336G>T c.(2335-2337)CGT>CTT p.R779L IPO8_uc001rje.1_Missense_Mutation_p.R268L|IPO8_uc010sjt.1_Missense_Mutation_p.R574L NM_006390 NP_006381 O15397 IPO8_HUMAN importin 8 779 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding skin(2)|central_nervous_system(1) 3 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) ACACATAGTACGAAGCTCACT 0.433 NA 7 54 5.18039e-06 6.28918e-06 0.00308 1 0 GLIPR1L1 256710 broad.mit.edu 37 12 75763886 75763886 + Missense_Mutation SNP C C T rs144682920 TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:75763886C>T uc001sxo.2 + 6 705 c.659C>T c.(658-660)ACG>ATG p.T220M CAPS2_uc001sxm.3_Intron|CAPS2_uc009zsa.2_Intron|GLIPR1L1_uc001sxn.2_Missense_Mutation_p.T211M NM_152779 NP_689992 Q6UWM5 GPRL1_HUMAN GLI pathogenesis-related 1 like 1 220 extracellular region 0 CTGAAGCCAACGGGGAGAGCA 0.318 NA 4 33 0 0 0.000602 0 0 NAV3 89795 broad.mit.edu 37 12 78562599 78562599 + Missense_Mutation SNP A A G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:78562599A>G uc001syp.2 + 24 5107 c.4934A>G c.(4933-4935)CAG>CGG p.Q1645R NAV3_uc001syo.2_Missense_Mutation_p.Q1645R|NAV3_uc010sub.1_Missense_Mutation_p.Q1131R|NAV3_uc009zsf.2_Missense_Mutation_p.Q476R NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1645 Potential. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TCTGCTGCCCAGGCGGCTATT 0.398 NA HNSCC(70;0.22) 36 55 0 0 0.007835 0 0 RASSF9 9182 broad.mit.edu 37 12 86199250 86199250 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:86199250G>C uc001taf.1 - 2 877 c.538C>G c.(538-540)CGA>GGA p.R180G NM_005447 NP_005438 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family 180 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity ovary(1) 1 ATATTATCTCGATCATGAGAA 0.363 NA 46 84 0 0 0.00361 0 0 WSCD2 9671 broad.mit.edu 37 12 108589931 108589931 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:108589931G>T uc001tms.2 + 2 1066 c.322G>T c.(322-324)GGT>TGT p.G108C WSCD2_uc001tmt.2_Missense_Mutation_p.G108C NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 108 integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 TGGCGACTACGGTGGAGCCTG 0.607 NA 15 59 2.61681e-11 3.726e-11 0.00245 1 0 WSCD2 9671 broad.mit.edu 37 12 108604067 108604067 + Nonsense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:108604067G>T uc001tms.2 + 4 1411 c.667G>T c.(667-669)GAG>TAG p.E223* WSCD2_uc001tmt.2_Nonsense_Mutation_p.E223* NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 223 integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 GCTGGCCCAGGAGTCGGCCCG 0.677 NA 4 6 0.00024832 0.000278054 0.009096 1 0 WSCD2 9671 broad.mit.edu 37 12 108634285 108634285 + Missense_Mutation SNP A A G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:108634285A>G uc001tms.2 + 8 2053 c.1309A>G c.(1309-1311)ATA>GTA p.I437V WSCD2_uc001tmt.2_Missense_Mutation_p.I437V|WSCD2_uc001tmu.2_Missense_Mutation_p.I185V NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 437 integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 CGGCGGCCACATAGGCTTTGC 0.542 NA 17 73 0 0 0.006122 0 0 TRPV4 59341 broad.mit.edu 37 12 110222182 110222182 + Silent SNP C C A rs141301107 TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:110222182C>A uc001tpj.1 - 14 2492 c.2397G>T c.(2395-2397)CCG>CCT p.P799P TRPV4_uc001tpg.1_Silent_p.P765P|TRPV4_uc001tph.1_Silent_p.P752P|TRPV4_uc001tpi.1_Silent_p.P692P|TRPV4_uc001tpk.1_Silent_p.P799P|TRPV4_uc001tpl.1_Silent_p.P739P NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 799 Cytoplasmic (Potential). P -> R (in MTD).|P -> S (in MTD).|P -> L (in MTD; also found in a patient with spondyloepiphyseal dysplasia Maroteaux type).|P -> A (in MTD). actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 CATTCTTGCCCGGGTCCTCGT 0.627 NA 39 81 9.62906e-15 1.48074e-14 0.00623 1 0 HVCN1 84329 broad.mit.edu 37 12 111099086 111099086 + Silent SNP T T C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:111099086T>C uc001trs.1 - 4 354 c.189A>G c.(187-189)TCA>TCG p.S63S HVCN1_uc001trq.1_Silent_p.S63S|HVCN1_uc001trt.1_Silent_p.S63S|HVCN1_uc010syd.1_Silent_p.S43S NM_032369 NP_115745 Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 63 Cytoplasmic (Potential). response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity skin(1) 1 CTTCCTCGCCTGAGACTGGTG 0.517 NA 3 60 0 0 0.004672 0 0 MED13L 23389 broad.mit.edu 37 12 116452946 116452947 + Missense_Mutation DNP CC CC AG TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:116452946_116452947CC>AG uc001tvw.2 - 8 1197_1198 c.1142_1143GG>CT c.(1141-1143)TGG>TCT p.W381S NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 381 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) TGCATTCCTTCCAGACTCGATG 0.441 NA 8 61 0 0 0.004672 0 0 FLT1 2321 broad.mit.edu 37 13 29008234 29008234 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr13:29008234C>A uc001usb.3 - 5 922 c.637G>T c.(637-639)GGG>TGG p.G213W FLT1_uc010aar.1_Missense_Mutation_p.G213W|FLT1_uc001usc.3_Missense_Mutation_p.G213W|FLT1_uc010tdp.1_Missense_Mutation_p.G213W NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 213 Ig-like C2-type 2.|Extracellular (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TACAAATGCCCATTGACTGTT 0.393 NA 16 20 4.7546e-09 6.37633e-09 0.004007 1 0 TRPC4 7223 broad.mit.edu 37 13 38237769 38237769 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr13:38237769C>T uc001uws.2 - 6 1707 c.1472G>A c.(1471-1473)CGT>CAT p.R491H TRPC4_uc010abv.2_Missense_Mutation_p.R71H|TRPC4_uc001uwt.2_Missense_Mutation_p.R491H|TRPC4_uc010tey.1_Missense_Mutation_p.R491H|TRPC4_uc010abw.2_Missense_Mutation_p.R318H|TRPC4_uc010abx.2_Missense_Mutation_p.R491H|TRPC4_uc010aby.2_Missense_Mutation_p.R491H NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 491 Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TGAGATCAGACGCAGAGAACT 0.448 NA 7 13 0 0 0.001984 0 0 SLITRK5 26050 broad.mit.edu 37 13 88327901 88327901 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr13:88327901C>T uc001vln.2 + 2 477 c.258C>T c.(256-258)CTC>CTT p.L86L SLITRK5_uc010tic.1_Intron NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 86 LRR 1.|Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) TCTACCACCTCTTGTTGTCCG 0.458 NA 32 79 0 0 0.009535 0 0 PABPN1 8106 broad.mit.edu 37 14 23792633 23792633 + Silent SNP C C G rs150035782 TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr14:23792633C>G uc001wjk.2 + 4 1864 c.582C>G c.(580-582)GGC>GGG p.G194G PABPN1_uc001wjh.3_Silent_p.G221G|PABPN1_uc001wjj.2_Silent_p.G194G NM_004643 NP_004634 Q86U42 PABP2_HUMAN poly(A) binding protein, nuclear 1 194 Necessary for homooligomerization.|RRM. modification by virus of host mRNA processing|mRNA 3'-end processing|muscle contraction|nuclear mRNA splicing, via spliceosome|poly(A)+ mRNA export from nucleus|termination of RNA polymerase II transcription|viral infectious cycle cytoplasm|nucleoplasm|ribonucleoprotein complex nucleotide binding|protein binding|RNA binding ovary(2) 2 all_cancers(95;6.69e-06) GBM - Glioblastoma multiforme(265;0.00643) ACTTTCATGGCTGTGGTTCAG 0.433 NA 10 86 0 0 0.001855 0 0 NOVA1 4857 broad.mit.edu 37 14 26917552 26917552 + Silent SNP C C A rs144344947 TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr14:26917552C>A uc001wpy.2 - 5 1455 c.1137G>T c.(1135-1137)ACG>ACT p.T379T NOVA1_uc001wpz.2_Silent_p.T355T|NOVA1_uc001wqa.2_Silent_p.T257T NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 382 Ala-rich. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) ATGTCCCCGCCGTACCACCAG 0.433 NA 11 30 0.00136819 0.00148866 0.001368 1 0 NOVA1 4857 broad.mit.edu 37 14 26917570 26917570 + Silent SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr14:26917570G>A uc001wpy.2 - 5 1437 c.1119C>T c.(1117-1119)GGC>GGT p.G373G NOVA1_uc001wpz.2_Silent_p.G349G|NOVA1_uc001wqa.2_Silent_p.G251G NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 376 Ala-rich. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) CAGCTGTGCTGCCACTGGCTG 0.388 NA 7 27 0 0 0.00308 0 0 ASB2 51676 broad.mit.edu 37 14 94413696 94413696 + Missense_Mutation SNP T T C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr14:94413696T>C uc001ycc.1 - 5 1396 c.907A>G c.(907-909)AGG>GGG p.R303G ASB2_uc001ycd.2_Missense_Mutation_p.R351G|ASB2_uc001yce.1_Missense_Mutation_p.R249G NM_016150 NP_057234 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box-containing protein 303 ANK 8. intracellular signal transduction ovary(1)|pancreas(1) 2 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) TGGGCTGACCTGTAGTTGCCC 0.642 NA 20 51 0 0 0.002299 0 0 TNFAIP2 7127 broad.mit.edu 37 14 103601623 103601623 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr14:103601623C>T uc001ymm.1 + 11 2022 c.1891C>T c.(1891-1893)CGG>TGG p.R631W TNFAIP2_uc010awo.1_Missense_Mutation_p.R291W|TNFAIP2_uc010txz.1_Missense_Mutation_p.R300W|TNFAIP2_uc010tya.1_Missense_Mutation_p.R114W NM_006291 NP_006282 Q03169 TNAP2_HUMAN tumor necrosis factor, alpha-induced protein 2 631 angiogenesis|cell differentiation extracellular space central_nervous_system(1) 1 Melanoma(154;0.155) Epithelial(46;0.191) CAAGCGCATCCGGAGCATCTT 0.582 NA 20 286 0 0 0.008871 0 0 Unknown 0 broad.mit.edu 37 15 22440691 22440691 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr15:22440691G>C uc001yug.2 - 1 175 c.156C>G c.(154-156)AAC>AAG p.N52K full-length cDNA clone CS0DI014YE21 of Placenta Cot 25-normalized of Homo sapiens (human). NA AGTATTTCTTGTTACCTCCCC 0.532 NA 3 16 0 0 0.004672 0 0 C15orf2 23742 broad.mit.edu 37 15 24923001 24923001 + Missense_Mutation SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr15:24923001A>T uc001ywo.2 + 1 2461 c.1987A>T c.(1987-1989)AGT>TGT p.S663C NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 663 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TTCTCTCCCCAGTGCCTGTGT 0.507 NA 18 91 0 0 0.001882 0 0 GABRG3 2567 broad.mit.edu 37 15 27573971 27573971 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr15:27573971G>C uc001zbg.1 + 5 676 c.510G>C c.(508-510)GAG>GAC p.E170D GABRG3_uc001zbf.2_Missense_Mutation_p.E170D NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 170 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) TCAATGCTGAGTGCCAGCTGC 0.597 NSCLC(114;800 1656 7410 37729 45293) NA 8 30 0 0 0.00308 0 0 MTMR15 22909 broad.mit.edu 37 15 31197996 31197997 + Missense_Mutation DNP GG GG TT TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr15:31197996_31197997GG>TT uc001zff.2 + 2 1421_1422 c.1130_1131GG>TT c.(1129-1131)CGG>CTT p.R377L MTMR15_uc001zfc.3_Missense_Mutation_p.R377L|MTMR15_uc010azw.2_Missense_Mutation_p.R377L|MTMR15_uc001zfd.3_Missense_Mutation_p.R377L|MTMR15_uc001zfe.2_5'UTR NM_014967 NP_055782 Q9Y2M0 FAN1_HUMAN myotubularin related protein 15 isoform a 377 double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding 0 all_lung(180;2.23e-09) all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168) TACTACCTTCGGAGTTTCCTTG 0.426 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 23 90 0 0 0.004672 0 0 RYR3 6263 broad.mit.edu 37 15 34016317 34016317 + Silent SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr15:34016317A>T uc001zhi.2 + 45 6922 c.6852A>T c.(6850-6852)GCA>GCT p.A2284A RYR3_uc010bar.2_Silent_p.A2284A NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2284 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGGGCAATGCAATTATGTCAT 0.498 NA 10 11 0 0 0.008291 0 0 LPCAT4 254531 broad.mit.edu 37 15 34651440 34651440 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr15:34651440C>A uc001zig.2 - 14 1557 c.1463G>T c.(1462-1464)CGC>CTC p.R488L NM_153613 NP_705841 Q643R3 LPCT4_HUMAN lysophosphatidylcholine acyltransferase 4 488 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity|calcium ion binding 0 GTGTGGGGGGCGCAGGTAGGT 0.552 NA 2 3 0.0016 0.00173542 0.004672 1 0 TCF12 6938 broad.mit.edu 37 15 57524917 57524917 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr15:57524917C>T uc002aec.2 + 11 1117 c.833C>T c.(832-834)CCT>CTT p.P278L TCF12_uc010ugm.1_Missense_Mutation_p.P330L|TCF12_uc010ugn.1_Missense_Mutation_p.P274L|TCF12_uc002aea.2_Missense_Mutation_p.P278L|TCF12_uc010bfs.2_Intron|TCF12_uc002aeb.2_Missense_Mutation_p.P278L|TCF12_uc002aed.2_Missense_Mutation_p.P278L|TCF12_uc002aee.2_Missense_Mutation_p.P108L|TCF12_uc010bft.2_Missense_Mutation_p.P108L|TCF12_uc010ugo.1_Missense_Mutation_p.P42L NM_207038 NP_996921 Q99081 HTF4_HUMAN transcription factor 12 isoform b 278 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(2)|lung(1) 8 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) TAGAGTTATCCTCCACACTCA 0.383 NA T TEC extraskeletal myxoid chondrosarcoma 4 23 0 0 0.009096 0 0 ANKDD1A 348094 broad.mit.edu 37 15 65219162 65219162 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr15:65219162C>T uc002aoa.2 + 6 563 c.534C>T c.(532-534)CTC>CTT p.L178L ANKDD1A_uc002anx.1_Silent_p.L174L|ANKDD1A_uc002any.2_Silent_p.L87L|ANKDD1A_uc002anz.2_Silent_p.L87L|ANKDD1A_uc002aob.2_Intron|ANKDD1A_uc002aoc.2_RNA|ANKDD1A_uc010bha.2_Silent_p.L87L NM_182703 NP_874362 Q495B1 AKD1A_HUMAN ankyrin repeat and death domain containing 1A 178 ANK 5. signal transduction ovary(1) 1 TGGACTTCCTCGTGGGCTCTG 0.612 NA 11 45 0 0 0.001368 0 0 KIAA1024 23251 broad.mit.edu 37 15 79760677 79760677 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr15:79760677G>T uc002bew.1 + 4 2777 c.2702G>T c.(2701-2703)TGC>TTC p.C901F KIAA1024_uc010unk.1_3'UTR NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 901 Helical; (Potential). integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 GCTGCGGCATGCACCGTCATC 0.458 NA 4 19 0.00909568 0.00962418 0.009096 1 0 ZNF598 90850 broad.mit.edu 37 16 2050050 2050050 + Silent SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr16:2050050G>A uc002cof.1 - 11 1515 c.1500C>T c.(1498-1500)CCC>CCT p.P500P ZNF598_uc002coe.1_5'UTR NM_178167 NP_835461 Q86UK7 ZN598_HUMAN zinc finger protein 598 500 intracellular zinc ion binding lung(1)|breast(1) 2 CAAGGCTGGTGGGGGCGGTGC 0.682 NA 5 16 0 0 0.001168 0 0 MYLK3 91807 broad.mit.edu 37 16 46766575 46766575 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr16:46766575G>T uc002eei.3 - 4 1123 c.1007C>A c.(1006-1008)TCC>TAC p.S336Y MYLK3_uc010vge.1_5'UTR|MYLK3_uc002eej.1_5'UTR NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 336 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 7 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TATGTGGATGGAGATCCTGGG 0.343 NA 6 10 3.59834e-05 4.16396e-05 0.001168 1 0 NFATC3 4775 broad.mit.edu 37 16 68156767 68156767 + Silent SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr16:68156767A>T uc002evo.1 + 2 1191 c.981A>T c.(979-981)CCA>CCT p.P327P NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Silent_p.P327P|NFATC3_uc002evm.1_Silent_p.P327P|NFATC3_uc002evn.1_Silent_p.P327P|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR NM_173165 NP_775188 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, 327 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) CAGTTTTTCCATTTCAGTACT 0.483 NA 19 94 0 0 0.006122 0 0 HYDIN 54768 broad.mit.edu 37 16 70913523 70913523 + Missense_Mutation SNP A A C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr16:70913523A>C uc002ezr.2 - 61 10477 c.10349T>G c.(10348-10350)TTG>TGG p.L3450W NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 3451 ovary(1)|skin(1) 2 Ovarian(137;0.0654) CAAGCCATCCAAGGTAGCCTC 0.577 NA 6 51 0 0 0.001984 0 0 PLCG2 5336 broad.mit.edu 37 16 81965179 81965179 + Nonsense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr16:81965179G>T uc002fgt.2 + 25 2811 c.2659G>T c.(2659-2661)GAG>TAG p.E887* NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 887 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 TCCTCCGGTGGAGTTTGCCAC 0.532 NA 16 59 2.32078e-09 3.16138e-09 0.003163 1 0 OSGIN1 29948 broad.mit.edu 37 16 83999018 83999018 + Silent SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr16:83999018G>T uc002fha.2 + 7 1472 c.1089G>T c.(1087-1089)GCG>GCT p.A363A OSGIN1_uc002fhb.2_Silent_p.A280A|OSGIN1_uc002fhc.2_Silent_p.A280A NM_013370 NP_037502 Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 363 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity 0 GGGTGGGTGCGGTGACCCCGG 0.697 NA 8 47 7.48243e-07 9.34628e-07 0.006214 1 0 ZCCHC14 23174 broad.mit.edu 37 16 87525384 87525384 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr16:87525384C>A uc002fjz.1 - 1 77 c.50G>T c.(49-51)CGC>CTC p.R17L ZCCHC14_uc002fka.1_RNA|uc002fkc.1_5'Flank NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 17 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding upper_aerodigestive_tract(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0285) GAGCTCCTGGCGCAGCACCTG 0.478 NA 6 25 3.59834e-05 4.16396e-05 0.001168 1 0 BANP 54971 broad.mit.edu 37 16 88061220 88061220 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr16:88061220C>T uc002fkr.2 + 8 1224 c.1000C>T c.(1000-1002)CGG>TGG p.R334W BANP_uc002fkp.2_Missense_Mutation_p.R304W|BANP_uc002fkq.2_Missense_Mutation_p.R304W|BANP_uc010vow.1_Missense_Mutation_p.R342W|BANP_uc002fks.3_Missense_Mutation_p.R303W|BANP_uc002fko.1_Missense_Mutation_p.R240W|BANP_uc010vov.1_Missense_Mutation_p.R309W NM_079837 NP_524576 Q8N9N5 BANP_HUMAN BTG3 associated nuclear protein isoform b 335 Necessary and sufficient for TP53 activation (By similarity).|Interaction with CUX1 and HDAC1 (By similarity). cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 BRCA - Breast invasive adenocarcinoma(80;0.00551) GAGCTTCTCGCGGAGAACGCC 0.682 NA 13 54 0 0 0.001368 0 0 KDM6B 23135 broad.mit.edu 37 17 7754426 7754426 + Missense_Mutation SNP A A G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:7754426A>G uc002giw.1 + 14 4137 c.3761A>G c.(3760-3762)GAT>GGT p.D1254G KDM6B_uc002gix.2_Missense_Mutation_p.D556G NM_001080424 NP_001073893 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 1254 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|pancreas(1) 2 CAGCCCTCAGATGAGAACTGG 0.602 NA 8 48 0 0 0.00308 0 0 WDR16 146845 broad.mit.edu 37 17 9489141 9489141 + Missense_Mutation SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:9489141A>T uc002gly.2 + 2 191 c.122A>T c.(121-123)TAT>TTT p.Y41F WDR16_uc002glz.2_Intron|WDR16_uc010coc.2_Missense_Mutation_p.Y51F NM_145054 NP_659491 Q8N1V2 WDR16_HUMAN WD40-repeat protein upregulated in HCC isoform 41 cytoplasm|intracellular membrane-bounded organelle protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 CATATGATTTATCCTCTTGGT 0.463 NA 22 83 0 0 0.001882 0 0 WDR16 146845 broad.mit.edu 37 17 9489143 9489143 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:9489143C>T uc002gly.2 + 2 193 c.124C>T c.(124-126)CCT>TCT p.P42S WDR16_uc002glz.2_Intron|WDR16_uc010coc.2_Missense_Mutation_p.P52S NM_145054 NP_659491 Q8N1V2 WDR16_HUMAN WD40-repeat protein upregulated in HCC isoform 42 cytoplasm|intracellular membrane-bounded organelle protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 TATGATTTATCCTCTTGGTTG 0.463 NA 21 82 0 0 0.010504 0 0 MYH13 8735 broad.mit.edu 37 17 10265755 10265755 + Silent SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:10265755G>A uc002gmk.1 - 4 360 c.270C>T c.(268-270)GAC>GAT p.D90D NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 90 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TCATGGCCATGTCCTCGATCT 0.468 NA 34 104 0 0 0.003271 0 0 MYH4 4622 broad.mit.edu 37 17 10346844 10346844 + Nonsense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:10346844C>A uc002gmn.2 - 40 5779 c.5668G>T c.(5668-5670)GAG>TAG p.E1890* uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1890 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 GATTGTTCCTCCTGAGAACAG 0.443 NA 12 43 9.05144e-12 1.2995e-11 0.001855 1 0 VTN 7448 broad.mit.edu 37 17 26695911 26695911 + Silent SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:26695911G>T uc002hbc.2 - 5 957 c.808C>A c.(808-810)CGG>AGG p.R270R SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron NM_000638 NP_000629 P04004 VTNC_HUMAN vitronectin precursor 270 Hemopexin-like 3. cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion alphav-beta3 integrin-vitronectin complex|extracellular space heparin binding|integrin binding|scavenger receptor activity ovary(1)|kidney(1) 2 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Urokinase(DB00013) AAGTAGACCCGCTCCCGGCCA 0.587 NA 56 62 4.46115e-38 7.52955e-38 0.00361 1 0 SSH2 85464 broad.mit.edu 37 17 27958980 27958980 + Missense_Mutation SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:27958980T>A uc002heo.1 - 15 3151 c.3151A>T c.(3151-3153)ACT>TCT p.T1051S SSH2_uc010wbh.1_Missense_Mutation_p.T1078S NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 1051 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 CAGAGCACAGTGACAGATTTT 0.517 NA 53 48 0 0 0.00361 0 0 UTP6 55813 broad.mit.edu 37 17 30202318 30202318 + Missense_Mutation SNP T T C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:30202318T>C uc002hgr.2 - 14 1323 c.1240A>G c.(1240-1242)ATC>GTC p.I414V UTP6_uc002hgq.2_Missense_Mutation_p.I230V|UTP6_uc010cst.2_Missense_Mutation_p.I263V NM_018428 NP_060898 Q9NYH9 UTP6_HUMAN hepatocellular carcinoma-associated antigen 66 414 rRNA processing nucleolus binding ovary(1) 1 all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231) TTTGACTCGATCAGCACCTGC 0.463 NA 35 65 0 0 0.004289 0 0 TMEM98 26022 broad.mit.edu 37 17 31258565 31258565 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:31258565G>T uc002hhq.2 + 3 477 c.19G>T c.(19-21)GTT>TTT p.V7F TMEM98_uc002hhr.2_Missense_Mutation_p.V7F NM_015544 NP_056359 Q9Y2Y6 TMM98_HUMAN transmembrane protein 98 7 Helical; (Potential). endoplasmic reticulum|integral to membrane 0 Ovarian(249;0.182)|Breast(31;0.244) BRCA - Breast invasive adenocarcinoma(9;0.0769) TGTGGTGATTGTTGCCATAGG 0.572 NA 6 5 1.58986e-06 1.95763e-06 0.008291 1 0 TMEM98 26022 broad.mit.edu 37 17 31258574 31258575 + Missense_Mutation DNP GG GG TT TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:31258574_31258575GG>TT uc002hhq.2 + 3 486_487 c.28_29GG>TT c.(28-30)GGT>TTT p.G10F TMEM98_uc002hhr.2_Missense_Mutation_p.G10F NM_015544 NP_056359 Q9Y2Y6 TMM98_HUMAN transmembrane protein 98 10 Helical; (Potential). endoplasmic reticulum|integral to membrane 0 Ovarian(249;0.182)|Breast(31;0.244) BRCA - Breast invasive adenocarcinoma(9;0.0769) TGTTGCCATAGGTGTGCTGGCC 0.564 NA 7 7 0 0 0.004672 0 0 C17orf37 84299 broad.mit.edu 37 17 37886456 37886456 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:37886456C>T uc002hsq.2 - 2 218 c.178G>A c.(178-180)GGG>AGG p.G60R NM_032339 NP_115715 Q9BRT3 CQ037_HUMAN hypothetical protein LOC84299 60 cell redox homeostasis cytosol|membrane selenium binding 0 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;3.72e-63)|all cancers(3;1.87e-56)|BRCA - Breast invasive adenocarcinoma(8;6.8e-45)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) CCTGTGCCCCCGAGGCGCGAC 0.582 NA 4 20 0 0 0.000602 0 0 STAT5B 6777 broad.mit.edu 37 17 40384145 40384145 + Missense_Mutation SNP T T C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:40384145T>C uc002hzh.2 - 2 170 c.1A>G c.(1-3)ATG>GTG p.M1V STAT5B_uc002hzi.3_Missense_Mutation_p.M1V NM_012448 NP_036580 P51692 STA5B_HUMAN signal transducer and activator of transcription 1 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity ovary(3)|lung(2)|skin(1) 6 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) CACACAGCCATGGTTTACAAT 0.423 NA 10 38 0 0 0.008291 0 0 SLC4A1 6521 broad.mit.edu 37 17 42336641 42336641 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:42336641C>A uc002igf.3 - 9 915 c.766G>T c.(766-768)GTG>TTG p.V256L SLC4A1_uc002igg.3_Missense_Mutation_p.V256L NM_000342 NP_000333 P02730 B3AT_HUMAN solute carrier family 4, anion exchanger, member 256 Cytoplasmic. bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) GGCAGCTCCACCGCCTCCAGC 0.652 NA 16 29 0.000422831 0.000470417 0.004007 1 0 SAMD14 201191 broad.mit.edu 37 17 48190269 48190269 + Silent SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:48190269G>T uc002iqg.2 - 10 1541 c.1242C>A c.(1240-1242)GCC>GCA p.A414A SAMD14_uc002iqd.2_Silent_p.A197A|SAMD14_uc002iqe.2_Silent_p.A197A|SAMD14_uc002iqf.2_Silent_p.A442A NM_174920 NP_777580 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 414 Potential. 0 AGCTCTTCTTGGCCTCCTGCT 0.701 NA 21 48 1.96292e-10 2.74968e-10 0.010504 1 0 WFIKKN2 124857 broad.mit.edu 37 17 48917105 48917105 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:48917105C>A uc002isv.3 + 2 1150 c.456C>A c.(454-456)ACC>ACA p.T152T WFIKKN2_uc010dbu.2_Silent_p.T59T NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN WFIKKN2 protein 152 Kazal-like. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) ACGGCCTCACCTACTATAACC 0.592 NA 24 41 5.35356e-11 7.5298e-11 0.00278 1 0 BPTF 2186 broad.mit.edu 37 17 65944403 65944403 + Missense_Mutation SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:65944403A>T uc002jgf.2 + 23 7968 c.7907A>T c.(7906-7908)GAT>GTT p.D2636V BPTF_uc002jge.2_Missense_Mutation_p.D2619V|BPTF_uc002jgg.2_Missense_Mutation_p.D293V|BPTF_uc002jgh.2_Missense_Mutation_p.D95V NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2762 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding ovary(2)|skin(2) 4 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CTGGACAAGGATCTGCAAATT 0.463 NA 10 28 0 0 0.000978 0 0 RNF157 114804 broad.mit.edu 37 17 74163145 74163145 + Missense_Mutation SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:74163145T>A uc002jqz.2 - 5 575 c.506A>T c.(505-507)CAG>CTG p.Q169L RNF157_uc002jra.2_Missense_Mutation_p.Q169L NM_052916 NP_443148 Q96PX1 RN157_HUMAN ring finger protein 157 169 zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(166;0.187) GCAGAACTGCTGACACACTCC 0.562 GBM(186;507 2120 27388 27773 52994) NA 14 117 0 0 0.00245 0 0 USP36 57602 broad.mit.edu 37 17 76831489 76831489 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:76831489C>A uc002jvz.1 - 4 673 c.348G>T c.(346-348)CGG>CGT p.R116R USP36_uc002jwa.1_Silent_p.R116R|USP36_uc002jwd.1_Silent_p.R116R NM_025090 NP_079366 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 116 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1)|breast(1)|kidney(1) 5 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) CGCGGAAGACCCGCTCCCACC 0.597 NA 11 34 3.86212e-05 4.41021e-05 0.008291 1 0 CBX2 84733 broad.mit.edu 37 17 77757821 77757821 + Silent SNP G G T rs144185230 TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:77757821G>T uc002jxc.2 + 5 621 c.579G>T c.(577-579)CTG>CTT p.L193L NM_005189 NP_005180 Q14781 CBX2_HUMAN chromobox homolog 2 isoform 1 193 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding 0 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGAAGGATCTGGGGGCCCCGG 0.697 NA 25 40 3.28513e-13 4.89937e-13 0.003954 1 0 LAMA1 284217 broad.mit.edu 37 18 6978269 6978269 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr18:6978269G>C uc002knm.2 - 43 6210 c.6116C>G c.(6115-6117)ACA>AGA p.T2039R LAMA1_uc010wzj.1_Missense_Mutation_p.T1515R NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2039 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCTGGCAGATGTGTTCAGCAG 0.607 NA 22 110 0 0 0.001882 0 0 LRRC30 339291 broad.mit.edu 37 18 7231236 7231236 + Missense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr18:7231236C>G uc010wzk.1 + 1 100 c.100C>G c.(100-102)CTG>GTG p.L34V NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 34 ovary(1)|liver(1) 2 GGACGATGCCCTGCTCTCGGG 0.612 NA 29 90 0 0 0.00632 0 0 RAB31 11031 broad.mit.edu 37 18 9792205 9792205 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr18:9792205C>A uc002kog.2 + 3 349 c.174C>A c.(172-174)CTC>CTA p.L58L NM_006868 NP_006859 Q13636 RAB31_HUMAN RAB31, member RAS oncogene family 57 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity skin(1) 1 ACAAGTTCCTCATCTGGGACA 0.398 NA 9 16 5.16669e-11 7.32653e-11 0.000978 1 0 MC5R 4161 broad.mit.edu 37 18 13825772 13825772 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr18:13825772C>A uc010xaf.1 + 1 8 c.8C>A c.(7-9)TCC>TAC p.S3Y NM_005913 NP_005904 P33032 MC5R_HUMAN melanocortin 5 receptor 3 Extracellular (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding ovary(3)|lung(2)|breast(1) 6 GCAATGAATTCCTCATTTCAC 0.408 NA 18 61 1.67942e-08 2.23491e-08 0.006122 1 0 POTEC 388468 broad.mit.edu 37 18 14542825 14542825 + Silent SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr18:14542825G>A uc010dln.2 - 1 775 c.321C>T c.(319-321)CCC>CCT p.P107P POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 107 skin(3) 3 CCCTGCAGCAGGGGAAGCAGT 0.607 NA 12 343 0 0 0.004007 0 0 ZNF521 25925 broad.mit.edu 37 18 22806904 22806904 + Nonsense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr18:22806904G>T uc002kvk.2 - 4 1225 c.978C>A c.(976-978)TAC>TAA p.Y326* ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Nonsense_Mutation_p.Y326*|ZNF521_uc002kvl.2_Nonsense_Mutation_p.Y106* NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 326 C2H2-type 8. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CCATGTGGCTGTACAGTTCCT 0.537 NA T PAX5 ALL 11 53 4.68919e-08 6.12249e-08 0.008291 1 0 ACAA2 10449 broad.mit.edu 37 18 47317871 47317871 + Silent SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr18:47317871T>A uc002ldw.3 - 7 1249 c.852A>T c.(850-852)GTA>GTT p.V284V ACAA2_uc002ldx.3_Silent_p.V281V NM_006111 NP_006102 P42765 THIM_HUMAN acetyl-coenzyme A acyltransferase 2 284 anti-apoptosis|cholesterol biosynthetic process acetyl-CoA C-acyltransferase activity|protein binding ovary(1) 1 CACATCCAGATACAAAGTAGC 0.398 NA 19 41 0 0 0.006122 0 0 SOCS6 9306 broad.mit.edu 37 18 67992499 67992499 + Nonsense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr18:67992499G>T uc002lkr.1 + 2 911 c.595G>T c.(595-597)GGA>TGA p.G199* SOCS6_uc010dqq.2_Nonsense_Mutation_p.G199* NM_004232 NP_004223 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 199 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm large_intestine(1)|lung(1) 2 Esophageal squamous(42;0.129)|Colorectal(73;0.152) TTCTCATAATGGAGACCTGCA 0.507 Melanoma(84;1024 1361 24382 36583 42651) NA 15 92 4.7546e-09 6.37633e-09 0.004007 1 0 STK11 6794 broad.mit.edu 37 19 1220486 1220487 + Missense_Mutation DNP CG CG AT rs121913315 TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:1220486_1220487CG>AT uc002lrl.1 + 4 1694_1695 c.579_580CG>AT c.(577-582)TCCGAC>TCATAC p.D194Y NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 194 Protein kinase. D -> V (in lung cancer; somatic mutation).|D -> Y (in melanoma; sporadic malignant; somatic mutation).|D -> N (in PJS). D->A: Loss of kinase activity. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.D194Y(6)|p.Y156fs*87(4)|p.?(3)|p.D194N(3)|p.D194fs*93(1)|p.D194V(1) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) TCAAAATCTCCGACCTGGGCGT 0.673 D194N(ALEXANDERCELLS_LIVER)|D194N(PLCPRF5_LIVER) 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 7 6 0 0 0.004672 0 0 MUM1 84939 broad.mit.edu 37 19 1360189 1360189 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:1360189C>T uc010xgm.1 + 4 338 c.269C>T c.(268-270)TCG>TTG p.S90L MUM1_uc010dsi.2_Missense_Mutation_p.S22L|MUM1_uc002lrz.2_Missense_Mutation_p.S91L|MUM1_uc002lsb.2_Missense_Mutation_p.S22L|MUM1_uc002lsc.1_Missense_Mutation_p.S22L Q2TAK8 MUM1_HUMAN SubName: Full=MUM1 protein; 90 chromatin organization|DNA repair nucleus nucleosome binding|protein binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TACAGACGGTCGCTTCGCGTG 0.587 NA OREG0025088 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 52 0 0 0.003163 0 0 FCER2 2208 broad.mit.edu 37 19 7764626 7764626 + Silent SNP T T G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:7764626T>G uc002mhn.2 - 2 205 c.21A>C c.(19-21)TCA>TCC p.S7S FCER2_uc010xjs.1_5'UTR|FCER2_uc010xjt.1_5'UTR|FCER2_uc002mhm.2_Silent_p.S7S|FCER2_uc010dvo.2_Silent_p.S7S NM_002002 NP_001993 P06734 FCER2_HUMAN Fc fragment of IgE, low affinity II, receptor 7 Cytoplasmic (Potential). positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity extracellular region|integral to plasma membrane IgE binding|integrin binding|receptor activity|sugar binding 0 TCCTCCTACCTGAATATTGAC 0.408 NA 16 20 0 0 0.007413 0 0 CCL25 6370 broad.mit.edu 37 19 8121118 8121118 + Silent SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:8121118G>A uc002mjd.2 + 2 156 c.156G>A c.(154-156)CAG>CAA p.Q52Q CCL25_uc002mjc.3_Silent_p.Q52Q|CCL25_uc010dvy.1_Silent_p.Q52Q NM_005624 NP_005615 O15444 CCL25_HUMAN small inducible cytokine A25 precursor 52 chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response extracellular space|soluble fraction CCR10 chemokine receptor binding|chemokine activity|hormone activity 0 ACCGGATCCAGGAGGTGAGCG 0.667 NA 30 18 0 0 0.002096 0 0 MUC16 94025 broad.mit.edu 37 19 9024194 9024194 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:9024194C>A uc002mkp.2 - 18 37282 c.37078G>T c.(37078-37080)GGG>TGG p.G12360W NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12362 Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTGGAGGTCCCAGGAGCTGAG 0.488 NA 10 15 2.80697e-09 3.80868e-09 0.000978 1 0 MAP4K1 11184 broad.mit.edu 37 19 39104688 39104688 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:39104688C>T uc002oix.1 - 7 563 c.455G>A c.(454-456)AGA>AAA p.R152K MAP4K1_uc002oiy.1_Missense_Mutation_p.R152K|MAP4K1_uc010xug.1_5'Flank NM_007181 NP_009112 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase 152 Protein kinase. activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity skin(4)|lung(3)|ovary(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CTCACCCAATCTGACCTCCCC 0.607 NA 5 101 0 0 0.000602 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39915411 39915411 + Missense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:39915411C>G uc010xuz.1 + 19 3963 c.3638C>G c.(3637-3639)CCT>CGT p.P1213R PLEKHG2_uc010xuy.1_Missense_Mutation_p.P1154R|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.P991R NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN common-site lymphoma/leukemia guanine nucleotide 1213 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity skin(2)|pancreas(1)|breast(1) 4 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GCTGCCACACCTTTACCTGAG 0.537 NA 15 252 0 0 0.00499 0 0 CEACAM5 1048 broad.mit.edu 37 19 42219069 42219069 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:42219069C>A uc002ork.2 + 3 725 c.604C>A c.(604-606)CTA>ATA p.L202I CEACAM5_uc010ehz.1_Missense_Mutation_p.L202I|CEACAM5_uc002orj.1_Missense_Mutation_p.L202I|CEACAM5_uc002orl.2_Missense_Mutation_p.L202I NM_004363 NP_004354 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion 202 Ig-like 2. anchored to membrane|basolateral plasma membrane|integral to plasma membrane skin(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) GACCCTCACTCTATTCAATGT 0.522 NA 89 77 4.78148e-37 7.99224e-37 0.00361 1 0 CCDC155 147872 broad.mit.edu 37 19 49920437 49920437 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:49920437G>C uc002pnm.1 + 19 1635 c.1461G>C c.(1459-1461)CAG>CAC p.Q487H CCDC155_uc010emx.1_Missense_Mutation_p.Q458H NM_144688 NP_653289 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 487 integral to membrane calcium ion binding ovary(1)|central_nervous_system(1) 2 GGGAACTCCAGCAAGCCCTGG 0.647 NA 14 8 0 0 0.00245 0 0 LILRA2 11027 broad.mit.edu 37 19 55086759 55086759 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:55086759G>T uc002qgg.3 + 5 781 c.692G>T c.(691-693)GGT>GTT p.G231V LILRA2_uc010ern.2_Missense_Mutation_p.G231V|LILRA2_uc002qgf.2_Missense_Mutation_p.G231V|LILRA2_uc010yfe.1_Missense_Mutation_p.G231V|LILRA2_uc010yff.1_Missense_Mutation_p.G219V|LILRA2_uc010ero.2_Missense_Mutation_p.G219V|LILRA2_uc010yfg.1_Intron NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 231 Ig-like C2-type 3.|Extracellular (Potential). defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) GTGCAGCCAGGTCCTATGGTG 0.557 NA 15 86 3.99206e-14 6.03167e-14 0.007413 1 0 LILRB1 10859 broad.mit.edu 37 19 55146111 55146111 + Silent SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:55146111G>T uc002qgj.2 + 11 1720 c.1380G>T c.(1378-1380)GGG>GGT p.G460G LILRB1_uc010erp.1_Silent_p.G75G|LILRB1_uc002qgl.2_Silent_p.G460G|LILRB1_uc002qgk.2_Silent_p.G461G|LILRB1_uc002qgm.2_Silent_p.G461G|LILRB1_uc010erq.2_Silent_p.G444G|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 460 Extracellular (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) GGCACCTGGGGGTTGTGATCG 0.333 NA HNSCC(37;0.09) 24 17 1.10513e-12 1.63409e-12 0.002299 1 0 NLRP4 147945 broad.mit.edu 37 19 56369436 56369436 + Missense_Mutation SNP T T C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr19:56369436T>C uc002qmd.3 + 3 1099 c.677T>C c.(676-678)CTC>CCC p.L226P NLRP4_uc002qmf.2_Missense_Mutation_p.L151P|NLRP4_uc010etf.2_Missense_Mutation_p.L57P NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 226 NACHT. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CCGGAGAGACTCTTGTTCGTC 0.562 NA 24 71 0 0 0.00278 0 0 NBAS 51594 broad.mit.edu 37 2 15651350 15651350 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:15651350C>A uc002rcc.1 - 10 897 c.871G>T c.(871-873)GAC>TAC p.D291Y NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 291 ovary(2)|liver(1)|skin(1) 4 GTAACCCCGTCTCCACCATTA 0.413 NA 32 137 1.62565e-12 2.38336e-12 0.002445 1 0 TMEM214 54867 broad.mit.edu 37 2 27260556 27260556 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:27260556G>C uc002ria.3 + 9 1248 c.1138G>C c.(1138-1140)GAG>CAG p.E380Q TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Missense_Mutation_p.E335Q NM_017727 NP_060197 Q6NUQ4 TM214_HUMAN transmembrane protein 214 isoform 1 380 integral to membrane protein binding 0 CTGTCCCCCTGAGATGAAGAA 0.557 NA 19 58 0 0 0.010504 0 0 EIF2AK2 5610 broad.mit.edu 37 2 37349800 37349801 + Nonsense_Mutation DNP CC CC AA TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:37349800_37349801CC>AA uc010ynh.1 - 12 1472_1473 c.915_916GG>TT c.(913-918)GCGGAG>GCTTAG p.E306* EIF2AK2_uc010fab.1_Nonsense_Mutation_p.E265*|EIF2AK2_uc010yng.1_Nonsense_Mutation_p.E306*|EIF2AK2_uc010fac.2_Nonsense_Mutation_p.E306*|EIF2AK2_uc010fad.2_Intron NM_002759 NP_002750 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha 306 Protein kinase. evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle cytosol ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity ovary(2)|lung(2)|pancreas(1) 5 all_hematologic(82;0.248) ACTTCACGCTCCGCCTTCCTAG 0.411 NA 9 44 0 0 0.004672 0 0 SLC8A1 6546 broad.mit.edu 37 2 40655869 40655869 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:40655869G>A uc002rrx.2 - 1 1576 c.1552C>T c.(1552-1554)CTT>TTT p.L518F SLC8A1_uc002rry.2_Missense_Mutation_p.L518F|SLC8A1_uc002rrz.2_Missense_Mutation_p.L518F|SLC8A1_uc002rsa.2_Missense_Mutation_p.L518F|SLC8A1_uc002rsd.3_Missense_Mutation_p.L518F|SLC8A1_uc002rsb.1_Missense_Mutation_p.L518F|SLC8A1_uc010fan.1_Missense_Mutation_p.L518F|SLC8A1_uc002rsc.1_Missense_Mutation_p.L518F NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 518 Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AGGCAAGCAAGTGTAGAAACA 0.433 NA 12 37 0 0 0.000978 0 0 GFPT1 2673 broad.mit.edu 37 2 69575396 69575396 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:69575396G>A uc002sfh.2 - 10 1041 c.862C>T c.(862-864)CGT>TGT p.R288C NM_002056 NP_002047 Q06210 GFPT1_HUMAN glucosamine-fructose-6-phosphate 306 dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding skin(1) 1 ATAGAAAGACGTCCATCCACT 0.448 NA 20 60 0 0 0.007413 0 0 CTNNA2 1496 broad.mit.edu 37 2 80773180 80773180 + Missense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:80773180C>G uc010ysh.1 + 10 1537 c.1532C>G c.(1531-1533)TCT>TGT p.S511C CTNNA2_uc010yse.1_Missense_Mutation_p.S511C|CTNNA2_uc010ysf.1_Missense_Mutation_p.S511C|CTNNA2_uc010ysg.1_Missense_Mutation_p.S511C|CTNNA2_uc010ysi.1_Missense_Mutation_p.S143C NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 511 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GACTTCCTCTCTGTCTCAGGT 0.498 NA 5 12 0 0 0.000602 0 0 IWS1 55677 broad.mit.edu 37 2 128262314 128262314 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:128262314C>A uc002ton.2 - 3 1468 c.1165G>T c.(1165-1167)GTA>TTA p.V389L IWS1_uc010yzl.1_RNA|uc002too.1_5'Flank|IWS1_uc010fma.2_RNA NM_017969 NP_060439 Q96ST2 IWS1_HUMAN IWS1 homolog 389 Glu-rich. transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) CTCTTCGCTACTTTCTCCTCC 0.398 NA 66 114 3.12118e-38 5.29377e-38 0.00361 1 0 NCKAP5 344148 broad.mit.edu 37 2 133543054 133543054 + Missense_Mutation SNP T T C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:133543054T>C uc002ttp.2 - 14 1704 c.1330A>G c.(1330-1332)AGC>GGC p.S444G NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 444 protein binding 0 TTGAGGCTGCTACTTTTAATT 0.448 NA 8 38 0 0 0.00308 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135892886 135892886 + Silent SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:135892886A>T uc002tuj.2 + 16 1576 c.1551A>T c.(1549-1551)CTA>CTT p.L517L RAB3GAP1_uc010fnf.2_Silent_p.L517L|RAB3GAP1_uc010fng.2_Silent_p.L342L|RAB3GAP1_uc010fnh.1_RNA NM_012233 NP_036365 Q15042 RB3GP_HUMAN RAB3 GTPase-activating protein 517 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.117) ATCAGAAACTACAGGTAAAGA 0.333 NA 4 17 0 0 0.009096 0 0 LCT 3938 broad.mit.edu 37 2 136570242 136570242 + Silent SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:136570242G>C uc002tuu.1 - 7 2003 c.1992C>G c.(1990-1992)CCC>CCG p.P664P NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 664 Extracellular (Potential).|4 X approximate repeats.|2. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) CTGTGAACTCGGGGAGTTGAG 0.557 NA 30 58 0 0 0.002445 0 0 LRP1B 53353 broad.mit.edu 37 2 141457912 141457912 + Missense_Mutation SNP T T C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:141457912T>C uc002tvj.1 - 41 7678 c.6706A>G c.(6706-6708)AAA>GAA p.K2236E NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2236 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTGGTACCTTTTCTTCTTTGA 0.343 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 14 72 0 0 0.001855 0 0 SLC4A10 57282 broad.mit.edu 37 2 162719564 162719564 + Missense_Mutation SNP A A C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:162719564A>C uc002ubx.3 + 6 942 c.758A>C c.(757-759)GAC>GCC p.D253A SLC4A10_uc010fpa.1_Missense_Mutation_p.D265A|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.D253A|SLC4A10_uc010zcs.1_Missense_Mutation_p.D264A NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 253 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 AATTCCATGGACAAAAATGGT 0.338 NA 5 35 0 0 0.001168 0 0 SCN3A 6328 broad.mit.edu 37 2 166003311 166003311 + Missense_Mutation SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:166003311A>T uc002ucx.2 - 12 2101 c.1609T>A c.(1609-1611)TTC>ATC p.F537I SCN3A_uc002ucy.2_Missense_Mutation_p.F537I|SCN3A_uc002ucz.2_Missense_Mutation_p.F537I|SCN3A_uc002uda.1_Missense_Mutation_p.F406I|SCN3A_uc002udb.1_Missense_Mutation_p.F406I NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 537 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) GAGAAAAGGAAGCTGCTTCTT 0.428 NA 19 91 0 0 0.006122 0 0 SCN2A 6326 broad.mit.edu 37 2 166172258 166172258 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:166172258C>T uc002udc.2 + 11 1951 c.1661C>T c.(1660-1662)TCT>TTT p.S554F SCN2A_uc002udd.2_Missense_Mutation_p.S554F|SCN2A_uc002ude.2_Missense_Mutation_p.S554F NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 554 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) AGATTTTCTTCTCCACACCAG 0.348 NA 18 55 0 0 0.001882 0 0 GALNT3 2591 broad.mit.edu 37 2 166626801 166626801 + Missense_Mutation SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:166626801T>A uc010fph.1 - 2 797 c.410A>T c.(409-411)GAG>GTG p.E137V GALNT3_uc010fpi.1_Missense_Mutation_p.E137V|GALNT3_uc002udi.2_Missense_Mutation_p.E137V NM_004482 NP_004473 Q14435 GALT3_HUMAN polypeptide N-acetylgalactosaminyltransferase 3 137 Lumenal (Potential). protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(2)|ovary(1) 3 TTCCTTTTGCTCTTCAACACT 0.463 NA 14 66 0 0 0.001855 0 0 XIRP2 129446 broad.mit.edu 37 2 168101680 168101680 + Missense_Mutation SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:168101680T>A uc002udx.2 + 8 3796 c.3778T>A c.(3778-3780)TGT>AGT p.C1260S XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.C1085S|XIRP2_uc010fpq.2_Missense_Mutation_p.C1038S|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1085 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AGGTGATGAATGTGTTAAGAC 0.338 NA 10 52 0 0 0.000978 0 0 XIRP2 129446 broad.mit.edu 37 2 168102400 168102400 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:168102400G>A uc002udx.2 + 8 4516 c.4498G>A c.(4498-4500)GAT>AAT p.D1500N XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D1325N|XIRP2_uc010fpq.2_Missense_Mutation_p.D1278N|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1325 Xin 27. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TCGAACTTTCGATTCTATTAT 0.388 NA 18 27 0 0 0.006122 0 0 MYO3B 140469 broad.mit.edu 37 2 171262076 171262076 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:171262076G>A uc002ufy.2 + 21 2596 c.2453G>A c.(2452-2454)CGA>CAA p.R818Q MYO3B_uc002ufv.2_Missense_Mutation_p.R805Q|MYO3B_uc010fqb.1_Missense_Mutation_p.R805Q|MYO3B_uc002ufz.2_Missense_Mutation_p.R818Q|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 818 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 GATAATCTACGATGCAAATAC 0.388 NA 17 33 0 0 0.004007 0 0 TTN 7273 broad.mit.edu 37 2 179604234 179604234 + Missense_Mutation SNP T T C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:179604234T>C uc010zfh.1 - 46 13437 c.13213A>G c.(13213-13215)AAA>GAA p.K4405E TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.K4338E|TTN_uc010zfj.1_Missense_Mutation_p.K4213E|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 4332 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) GACTCCTCTTTTTCCTCTGAT 0.448 NA 15 68 0 0 0.00499 0 0 SATB2 23314 broad.mit.edu 37 2 200193550 200193550 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:200193550C>A uc002uuy.1 - 8 2074 c.1257G>T c.(1255-1257)CAG>CAT p.Q419H SATB2_uc010fsq.1_Missense_Mutation_p.Q301H|SATB2_uc002uuz.1_Missense_Mutation_p.Q419H|SATB2_uc002uva.1_Missense_Mutation_p.Q419H NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 419 CUT 1. cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 TGAGGAAATTCTGCATGGCCC 0.517 Colon(30;262 767 11040 24421 36230) NA 8 34 1.12685e-05 1.35379e-05 0.004482 1 0 MAP2 4133 broad.mit.edu 37 2 210560620 210560620 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:210560620G>C uc002vde.1 + 7 3974 c.3726G>C c.(3724-3726)CAG>CAC p.Q1242H MAP2_uc002vdc.1_Missense_Mutation_p.Q1242H|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.Q1238H NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1242 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TAGAAGCCCAGGGAGAATATG 0.488 Pancreas(27;423 979 28787 29963) NA 6 54 0 0 0.001168 0 0 CPS1 1373 broad.mit.edu 37 2 211504723 211504723 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:211504723C>A uc002vee.3 + 24 3031 c.2899C>A c.(2899-2901)CAT>AAT p.H967N CPS1_uc010fur.2_Missense_Mutation_p.H973N|CPS1_uc010fus.2_Missense_Mutation_p.H516N NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 967 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) TCCTCAGGAGCATGATGTCAA 0.279 NA 7 40 1.76689e-08 2.34232e-08 0.006214 1 0 IGFBP5 3488 broad.mit.edu 37 2 217543575 217543575 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:217543575G>T uc002vgj.3 - 2 1339 c.565C>A c.(565-567)CAG>AAG p.Q189K NM_000599 NP_000590 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 189 Thyroglobulin type-1. negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction insulin-like growth factor I binding 0 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGATGCACCTGCTCAGACTCC 0.562 NA 9 17 2.17888e-05 2.56426e-05 0.006214 1 0 CCDC108 255101 broad.mit.edu 37 2 219892675 219892675 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:219892675G>T uc002vjl.1 - 13 1992 c.1908C>A c.(1906-1908)TTC>TTA p.F636L CCDC108_uc010fwa.1_Missense_Mutation_p.F79L|CCDC108_uc010zkp.1_Missense_Mutation_p.F625L|CCDC108_uc010zkq.1_Missense_Mutation_p.F571L NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 636 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGTCGAAGAAGAACTCGGTCA 0.607 NA 21 83 3.10358e-05 3.64013e-05 0.002299 1 0 CHPF 79586 broad.mit.edu 37 2 220408109 220408109 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:220408109G>A uc002vmc.3 - 1 379 c.152C>T c.(151-153)CCG>CTG p.P51L CHPF_uc010zlh.1_5'Flank|CHPF_uc002vmd.3_Missense_Mutation_p.P51L|TMEM198_uc002vme.2_5'Flank|TMEM198_uc002vmf.2_5'Flank NM_024536 NP_078812 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 51 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding 0 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GCCGCGCGGCGGCAGCTCAGA 0.741 NA 3 13 0 0 0.009096 0 0 NDUFA10 4705 broad.mit.edu 37 2 240944656 240944656 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:240944656G>C uc002vyn.2 - 8 941 c.861C>G c.(859-861)GAC>GAG p.D287E NDUFA10_uc010fzc.1_Missense_Mutation_p.D317E NM_004544 NP_004535 O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 287 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1) 1 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) AAGTGCGATTGTCCTGCTTGA 0.458 NA 20 92 0 0 0.001882 0 0 ZNF133 7692 broad.mit.edu 37 20 18296354 18296354 + Missense_Mutation SNP A A G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr20:18296354A>G uc010gcq.2 + 5 1164 c.859A>G c.(859-861)ATA>GTA p.I287V ZNF133_uc010zrv.1_Missense_Mutation_p.I290V|ZNF133_uc010zrw.1_Missense_Mutation_p.I224V|ZNF133_uc010gcr.2_Missense_Mutation_p.I287V|ZNF133_uc010zrx.1_Missense_Mutation_p.I192V|ZNF133_uc002wql.3_Missense_Mutation_p.I286V|ZNF133_uc010gcs.2_Missense_Mutation_p.I286V|ZNF133_uc010zry.1_Missense_Mutation_p.I192V|ZNF133_uc002wqm.2_Missense_Mutation_p.I287V NM_003434 NP_003425 P52736 ZN133_HUMAN zinc finger protein 133 287 C2H2-type 3. nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1) 2 AACGCTAATCATACACGAACG 0.532 NA 10 55 0 0 0.006214 0 0 PLAGL2 5326 broad.mit.edu 37 20 30785287 30785287 + Silent SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr20:30785287G>A uc002wxn.2 - 3 676 c.459C>T c.(457-459)AGC>AGT p.S153S NM_002657 NP_002648 Q9UPG8 PLAL2_HUMAN pleiomorphic adenoma gene-like 2 153 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TGAGGTCACCGCTGCTGGCAG 0.602 Colon(163;15 1893 11280 16306 47518) NA 4 31 0 0 0.009096 0 0 KIAA1755 85449 broad.mit.edu 37 20 36874455 36874455 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr20:36874455G>T uc002xhy.1 - 2 349 c.77C>A c.(76-78)CCC>CAC p.P26H KIAA1755_uc002xhz.1_Missense_Mutation_p.P26H NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 26 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) CAGGACGGTGGGTGCTGTGGC 0.632 NA 14 27 6.31663e-08 8.12473e-08 0.003163 1 0 PTPRT 11122 broad.mit.edu 37 20 40877433 40877433 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr20:40877433C>T uc002xkg.2 - 14 2390 c.2206G>A c.(2206-2208)GAG>AAG p.E736K PTPRT_uc010ggj.2_Missense_Mutation_p.E755K NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 736 Extracellular (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TTCTCTGGCTCCACAGTGTTA 0.502 NA 10 34 0 0 0.006214 0 0 ZSWIM1 90204 broad.mit.edu 37 20 44511423 44511423 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr20:44511423G>T uc010ghi.2 + 2 305 c.192G>T c.(190-192)CAG>CAT p.Q64H ZSWIM1_uc010zxh.1_Intron NM_080603 NP_542170 Q9BR11 ZSWM1_HUMAN zinc finger, SWIM-type containing 1 64 zinc ion binding skin(1) 1 Myeloproliferative disorder(115;0.028) TCAACTACCAGAGCTGCTTTA 0.473 NA 16 26 3.52763e-06 4.29775e-06 0.00499 1 0 SLC13A3 64849 broad.mit.edu 37 20 45195002 45195002 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr20:45195002C>A uc002xsf.1 - 11 1398 c.1360G>T c.(1360-1362)GGG>TGG p.G454W SLC13A3_uc010ghn.1_Missense_Mutation_p.G423W|SLC13A3_uc010zxw.1_Missense_Mutation_p.G404W|SLC13A3_uc002xsg.1_Missense_Mutation_p.G407W|SLC13A3_uc010gho.1_Missense_Mutation_p.G372W|SLC13A3_uc010zxx.1_Missense_Mutation_p.G356W|SLC13A3_uc002xse.1_5'Flank|SLC13A3_uc010ghm.1_Missense_Mutation_p.G41W|SLC13A3_uc010zxv.1_Missense_Mutation_p.G39W NM_022829 NP_073740 Q8WWT9 S13A3_HUMAN solute carrier family 13 member 3 isoform a 454 Cytoplasmic (Potential). integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) TGCAGCTGCCCACCAATCCAT 0.617 NA 25 97 3.01185e-09 4.0707e-09 0.003954 1 0 EYA2 2139 broad.mit.edu 37 20 45801492 45801492 + Missense_Mutation SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr20:45801492A>T uc002xsm.2 + 12 1549 c.1175A>T c.(1174-1176)AAT>ATT p.N392I EYA2_uc010ghp.2_Missense_Mutation_p.N392I|EYA2_uc002xsn.2_Missense_Mutation_p.N397I|EYA2_uc002xso.2_Missense_Mutation_p.N392I|EYA2_uc002xsp.2_Missense_Mutation_p.N392I|EYA2_uc002xsq.2_Missense_Mutation_p.N362I NM_005244 NP_005235 O00167 EYA2_HUMAN eyes absent 2 isoform a 392 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity ovary(1) 1 Myeloproliferative disorder(115;0.0241) GAGATGTACAATACCTACAAG 0.582 Pancreas(120;56 1725 18501 25218 43520) NA 15 52 0 0 0.00245 0 0 SPO11 23626 broad.mit.edu 37 20 55906984 55906984 + Nonsense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr20:55906984C>G uc002xye.2 + 2 320 c.227C>G c.(226-228)TCA>TGA p.S76* SPO11_uc002xyf.2_Intron NM_012444 NP_036576 Q9Y5K1 SPO11_HUMAN meiotic recombination protein SPO11 isoform a 76 female gamete generation|reciprocal meiotic recombination chromosome|nucleus ATP binding|DNA binding|hydrolase activity breast(2)|skin(1) 3 Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09) GACAACAGATCAAGCTGGGAA 0.313 NA Editing_and_processing_nucleases 26 132 0 0 0.004656 0 0 COL9A3 1299 broad.mit.edu 37 20 61452879 61452879 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr20:61452879C>A uc002ydm.2 + 7 369 c.366C>A c.(364-366)CCC>CCA p.P122P NM_001853 NP_001844 Q14050 CO9A3_HUMAN alpha 3 type IX collagen precursor 122 Triple-helical region 3 (COL3). axon guidance collagen type IX 0 Breast(26;5.68e-08) TCCCTGGACCCCCCGTGAGTA 0.647 NA 9 43 0.00829132 0.00879999 0.008291 1 0 TPTE 7179 broad.mit.edu 37 21 10920121 10920121 + Missense_Mutation SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr21:10920121T>A uc002yip.1 - 19 1501 c.1133A>T c.(1132-1134)CAC>CTC p.H378L TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.H360L|TPTE_uc002yir.1_Missense_Mutation_p.H340L|TPTE_uc010gkv.1_Missense_Mutation_p.H240L NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 378 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTTTTCGCTGTGGGTTTTATC 0.383 NA 6 46 0 0 0.001168 0 0 LIPI 149998 broad.mit.edu 37 21 15538703 15538703 + Missense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr21:15538703C>G uc002yjm.2 - 5 786 c.776G>C c.(775-777)TGT>TCT p.C259S LIPI_uc010gkw.1_Intron NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 238 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TGATTTAGGACAGCCAGGTTG 0.348 NA 9 61 0 0 0.006214 0 0 HSPA13 6782 broad.mit.edu 37 21 15753847 15753847 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr21:15753847G>A uc002yjt.2 - 2 112 c.43C>T c.(43-45)CTC>TTC p.L15F HSPA13_uc011abx.1_5'UTR NM_006948 NP_008879 P48723 HSP13_HUMAN heat shock protein 70kDa family member 13 15 endoplasmic reticulum|microsome ATP binding kidney(1) 1 GCCAACAGGAGAGTCAAAACA 0.373 NA 8 18 0 0 0.006214 0 0 TRPM2 7226 broad.mit.edu 37 21 45825814 45825814 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr21:45825814G>T uc002zet.1 + 19 2897 c.2684G>T c.(2683-2685)GGG>GTG p.G895V TRPM2_uc002zeu.1_Missense_Mutation_p.G895V|TRPM2_uc002zew.1_Missense_Mutation_p.G895V|TRPM2_uc010gpt.1_Missense_Mutation_p.G895V|TRPM2_uc002zex.1_Missense_Mutation_p.G681V|TRPM2_uc002zey.1_Missense_Mutation_p.G408V NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 895 Extracellular (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 CTGTACCCCGGGCGCGTCATC 0.617 NA 26 79 1.1804e-14 1.80716e-14 0.003954 1 0 KRTAP10-7 386675 broad.mit.edu 37 21 46021441 46021441 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr21:46021441G>T uc002zfn.3 + 2 930 c.905G>T c.(904-906)TGC>TTC p.C302F C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198689 NP_941962 P60409 KR107_HUMAN keratin associated protein 10-7 307 27.|30 X 5 AA repeats of C-C-X(3). keratin filament 0 ACCACCTCCTGCTGCAGACCC 0.672 NA 26 99 7.38237e-10 1.02172e-09 0.00632 1 0 KRTAP10-9 386676 broad.mit.edu 37 21 46047942 46047942 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr21:46047942C>T uc002zfp.3 + 1 903 c.854C>T c.(853-855)TCC>TTC p.S285F C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198690 NP_941963 P60411 KR109_HUMAN keratin associated protein 10-9 285 keratin filament 0 TACAGCTTCTCCTCAGGCCAG 0.701 NA 23 63 0 0 0.007291 0 0 CACNA1I 8911 broad.mit.edu 37 22 39966877 39966877 + Silent SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr22:39966877G>A uc003ayc.2 + 1 120 c.120G>A c.(118-120)GAG>GAA p.E40E CACNA1I_uc003ayd.2_Silent_p.E40E NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 40 Cytoplasmic (Potential). axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GCCTGGAGGAGCCTCTGGATG 0.677 NA 17 64 0 0 0.004007 0 0 GRM7 2917 broad.mit.edu 37 3 6903146 6903146 + Missense_Mutation SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:6903146T>A uc003bqm.2 + 1 345 c.71T>A c.(70-72)CTC>CAC p.L24H GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.L24H|GRM7_uc003bql.2_Missense_Mutation_p.L24H NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 24 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) CTGGAGGTGCTCCTGTGCGCG 0.706 NA 4 8 0 0 0.009096 0 0 ITGA9 3680 broad.mit.edu 37 3 37512507 37512507 + Silent SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:37512507G>T uc003chd.2 + 2 248 c.195G>T c.(193-195)GTG>GTT p.V65V ITGA9_uc003chc.2_Silent_p.V65V NM_002207 NP_002198 Q13797 ITA9_HUMAN integrin, alpha 9 precursor 65 Extracellular (Potential).|FG-GAP 1. axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|pancreas(1)|lung(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) GGGTCCTTGTGGGCGCACCAA 0.527 NA 6 50 0.000157383 0.000177377 0.00308 1 0 GPX1 2876 broad.mit.edu 37 3 49394909 49394909 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:49394909G>A uc011bcl.1 - 3 604 c.524C>T c.(523-525)CCC>CTC p.P175L GPX1_uc011bcm.1_3'UTR NM_000581 NP_000572 P07203 GPX1_HUMAN glutathione peroxidase 1 isoform 1 175 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CCTGCGTAGGGGCACACCGTC 0.617 NA 10 33 0 0 0.001368 0 0 ROBO1 6091 broad.mit.edu 37 3 78666888 78666888 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:78666888C>T uc003dqe.2 - 27 4387 c.4179G>A c.(4177-4179)TCG>TCA p.S1393S ROBO1_uc003dqb.2_Silent_p.S1354S|ROBO1_uc003dqc.2_Silent_p.S1293S|ROBO1_uc003dqd.2_Silent_p.S1348S|ROBO1_uc010hoh.2_Silent_p.S585S|ROBO1_uc011bgl.1_Silent_p.S965S NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 1393 Cytoplasmic (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) AGGAGCCGTCCGAAGAACTAA 0.577 NA 4 42 0 0 0.000602 0 0 ARL13B 200894 broad.mit.edu 37 3 93761947 93761947 + Missense_Mutation SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:93761947A>T uc003drc.2 + 7 1173 c.887A>T c.(886-888)GAG>GTG p.E296V ARL13B_uc010hop.2_Missense_Mutation_p.E147V|ARL13B_uc003drd.2_Missense_Mutation_p.E189V|ARL13B_uc003dre.2_Missense_Mutation_p.E281V|ARL13B_uc003drf.2_Missense_Mutation_p.E296V|ARL13B_uc003drg.2_Missense_Mutation_p.E193V NM_182896 NP_878899 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 2-like 1 isoform 1 296 GTP binding 0 ATGGAGCATGAGCAAATAGAG 0.343 NA 3 20 0 0 0.009096 0 0 POLQ 10721 broad.mit.edu 37 3 121209076 121209076 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:121209076C>A uc003eee.3 - 16 2831 c.2702G>T c.(2701-2703)TGT>TTT p.C901F POLQ_uc003eed.2_Missense_Mutation_p.C73F NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 901 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) TAACAGGGCACATGGATTCCA 0.393 Pancreas(152;907 1925 26081 31236 36904) NA DNA_polymerases_(catalytic_subunits) 33 42 1.36615e-20 2.18836e-20 0.002836 1 0 HEG1 57493 broad.mit.edu 37 3 124746163 124746163 + Nonsense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:124746163C>A uc003ehs.3 - 3 867 c.799G>T c.(799-801)GAG>TAG p.E267* HEG1_uc011bke.1_Nonsense_Mutation_p.E267* NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 267 Extracellular (Potential). extracellular region|integral to membrane calcium ion binding ovary(2) 2 TCTCCCATCTCCAAAGCAGGA 0.552 NA 13 20 0.000219431 0.000246504 0.00245 1 0 PLXND1 23129 broad.mit.edu 37 3 129305058 129305058 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:129305058C>A uc003emx.2 - 4 1778 c.1678G>T c.(1678-1680)GGT>TGT p.G560C NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 560 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 TCCGCCGCACCCACGCAGTCC 0.697 Ovarian(97;366 1484 3738 22084 39045) NA 6 12 0.00448238 0.00481647 0.004482 1 0 COL6A6 131873 broad.mit.edu 37 3 130289965 130289965 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:130289965C>A uc010htl.2 + 6 2736 c.2705C>A c.(2704-2706)GCC>GAC p.A902D NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 902 VWFA 5.|Nonhelical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 TTCACTGAAGCCCGGGGCAGC 0.542 NA 5 23 1.23904e-05 1.47322e-05 0.000602 1 0 COPB2 9276 broad.mit.edu 37 3 139093397 139093397 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:139093397C>T uc003etf.3 - 7 815 c.685G>A c.(685-687)GCC>ACC p.A229T COPB2_uc011bmv.1_Missense_Mutation_p.A200T|COPB2_uc010hui.2_Missense_Mutation_p.A200T|COPB2_uc011bmw.1_Missense_Mutation_p.A229T NM_004766 NP_004757 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta 229 WD 6. COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(2) 2 ACATTTTGGGCATGTCCTTCC 0.378 NA 7 57 0 0 0.001984 0 0 TRIM42 287015 broad.mit.edu 37 3 140401880 140401880 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:140401880C>T uc003eto.1 + 2 1109 c.918C>T c.(916-918)AAC>AAT p.N306N NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 306 B box-type 2. intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 GCAATGACAACAAATTGCTCT 0.562 NA 24 42 0 0 0.002299 0 0 VEPH1 79674 broad.mit.edu 37 3 157031456 157031456 + Missense_Mutation SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:157031456T>A uc003fbj.1 - 11 2281 c.1964A>T c.(1963-1965)CAC>CTC p.H655L VEPH1_uc003fbk.1_Missense_Mutation_p.H655L|VEPH1_uc010hvu.1_Intron NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 655 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) TTCAAAGCTGTGAGCACCCCC 0.488 NA 5 45 0 0 0.000602 0 0 UBXN7 26043 broad.mit.edu 37 3 196134252 196134252 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr3:196134252C>T uc003fwm.3 - 2 161 c.86G>A c.(85-87)AGT>AAT p.S29N UBXN7_uc003fwn.3_Intron|UBXN7_uc010iae.2_Intron|UBXN7_uc010iaf.2_Missense_Mutation_p.S29N NM_015562 NP_056377 O94888 UBXN7_HUMAN UBX domain containing 7 29 protein binding ovary(2)|pancreas(1) 3 TTTTCCTACACTTTCACTTGC 0.378 NA 9 61 0 0 0.004482 0 0 CCKAR 886 broad.mit.edu 37 4 26490886 26490886 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr4:26490886G>T uc003gse.1 - 2 486 c.333C>A c.(331-333)AGC>AGA p.S111R NM_000730 NP_000721 P32238 CCKAR_HUMAN cholecystokinin A receptor 111 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity lung(3)|pancreas(1) 4 Breast(46;0.0503) Ceruletide(DB00403) TGCAAACGGCGCTCCCGAAGA 0.557 NA 47 591 1.06522e-23 1.72227e-23 0.003214 1 0 KLB 152831 broad.mit.edu 37 4 39408945 39408945 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr4:39408945G>T uc003gua.2 + 1 473 c.376G>T c.(376-378)GGT>TGT p.G126C KLB_uc011byj.1_Missense_Mutation_p.G126C NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN klotho beta 126 Extracellular (Potential).|Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds skin(1) 1 CAGCACGAATGGTTCCAGTGA 0.388 NA 47 102 1.0331e-37 1.7352e-37 0.00361 1 0 FRYL 285527 broad.mit.edu 37 4 48563563 48563563 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr4:48563563G>A uc003gyh.1 - 33 4392 c.3787C>T c.(3787-3789)CTC>TTC p.L1263F FRYL_uc003gyk.2_Missense_Mutation_p.L1263F|FRYL_uc003gyi.1_Missense_Mutation_p.L152F NM_015030 NP_055845 O94915 FRYL_HUMAN furry-like 1263 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding skin(1) 1 ACAGAATAGAGATGTGGTAGA 0.438 NA 3 32 0 0 0.004672 0 0 CEP135 9662 broad.mit.edu 37 4 56851486 56851486 + Nonsense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr4:56851486G>T uc003hbi.2 + 14 2053 c.1819G>T c.(1819-1821)GAG>TAG p.E607* CEP135_uc003hbj.2_Nonsense_Mutation_p.E313* NM_025009 NP_079285 Q66GS9 CP135_HUMAN centrosome protein 4 607 Potential. centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 Glioma(25;0.08)|all_neural(26;0.101) ATCAGAATTAGAGAAAACTAT 0.289 NA 7 63 8.12818e-05 9.22083e-05 0.001984 1 0 DKK2 27123 broad.mit.edu 37 4 107845182 107845182 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr4:107845182G>T uc003hyi.2 - 4 1414 c.709C>A c.(709-711)CTG>ATG p.L237M DKK2_uc003hyj.1_3'UTR NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN dickkopf homolog 2 precursor 237 DKK-type Cys-2. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space ovary(3)|lung(1)|skin(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) TTGCAAGACAGGCCCTTCGCA 0.488 NA 18 69 2.35188e-11 3.36261e-11 0.006122 1 0 NDST4 64579 broad.mit.edu 37 4 115856477 115856477 + Missense_Mutation SNP T T C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr4:115856477T>C uc003ibu.2 - 6 2100 c.1421A>G c.(1420-1422)CAG>CGG p.Q474R NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 474 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CCCACAAGTCTGTCGAGGGAG 0.403 NA 5 27 0 0 0.000602 0 0 POU4F2 5458 broad.mit.edu 37 4 147561134 147561134 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr4:147561134C>T uc003ikv.2 + 2 652 c.404C>T c.(403-405)CCC>CTC p.P135L NM_004575 NP_004566 Q12837 PO4F2_HUMAN Brn3b POU domain transcription factor 135 estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1) 1 all_hematologic(180;0.151) CACCACAGCCCCTTCAAACCG 0.647 NA 7 26 0 0 0.00308 0 0 DCHS2 54798 broad.mit.edu 37 4 155219858 155219858 + Nonsense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr4:155219858C>A uc003inw.2 - 18 4243 c.4243G>T c.(4243-4245)GGA>TGA p.G1415* NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1415 Cadherin 12. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TCAGTATTTCCATCTATTAAA 0.323 NA 8 39 3.86212e-05 4.41021e-05 0.008291 1 0 MORF4 10934 broad.mit.edu 37 4 174537370 174537370 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr4:174537370C>A uc011cke.1 - 1 425 c.425G>T c.(424-426)GGC>GTC p.G142V NM_006792 NP_006783 mortality factor 4 0 Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107) all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) TAGCTGGGTGCCCAACATTAG 0.423 NA 43 132 2.00842e-17 3.1444e-17 0.002522 1 0 AGA 175 broad.mit.edu 37 4 178355600 178355600 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr4:178355600C>A uc003iuu.1 - 7 804 c.742G>T c.(742-744)GAC>TAC p.D248Y AGA_uc010irt.1_RNA|AGA_uc003iuv.1_3'UTR|AGA_uc003iuw.2_Missense_Mutation_p.D142Y NM_000027 NP_000018 P20933 ASPG_HUMAN aspartylglucosaminidase precursor 248 asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity 0 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) GCAGTATCGTCAGCATAGGCT 0.463 NA 9 77 7.48243e-07 9.34628e-07 0.006214 1 0 PRDM9 56979 broad.mit.edu 37 5 23524524 23524524 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:23524524C>T uc003jgo.2 + 10 1214 c.1032C>T c.(1030-1032)TGC>TGT p.C344C NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 344 SET. 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 ATAGAACCTGCCGAGTCATTA 0.547 NA HNSCC(3;0.000094) 53 63 0 0 0.00361 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33549399 33549399 + Nonsense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:33549399G>T uc003jia.1 - 21 4378 c.4215C>A c.(4213-4215)TGC>TGA p.C1405* ADAMTS12_uc010iuq.1_Nonsense_Mutation_p.C1320* NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1405 TSP type-1 6. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CCAGGAACTGGCAGTGAAATG 0.612 NA HNSCC(64;0.19) 69 96 1.55545e-33 2.57505e-33 0.00361 1 0 SLC45A2 51151 broad.mit.edu 37 5 33964012 33964012 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:33964012C>A uc003jid.2 - 3 764 c.672G>T c.(670-672)TTG>TTT p.L224F SLC45A2_uc003jie.2_Missense_Mutation_p.L224F|SLC45A2_uc003jif.3_Intron|SLC45A2_uc011coe.1_Intron NM_016180 NP_057264 Q9UMX9 S45A2_HUMAN membrane-associated transporter protein isoform 224 Helical; Name=6; (Potential). melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 AAGTGAGCACCAATGCAGAGA 0.512 Ovarian(31;380 859 8490 22203 49048) NA 38 56 3.76114e-14 5.70769e-14 0.004289 1 0 PLCXD3 345557 broad.mit.edu 37 5 41381978 41381978 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:41381978G>T uc003jmm.1 - 2 864 c.762C>A c.(760-762)AGC>AGA p.S254R NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X 254 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 6 TGACCACAGTGCTAGCTTTGG 0.393 NA 22 96 7.92952e-12 1.14317e-11 0.003954 1 0 ERBB2IP 55914 broad.mit.edu 37 5 65349306 65349306 + Missense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:65349306C>G uc003juk.1 + 21 2468 c.2160C>G c.(2158-2160)TTC>TTG p.F720L ERBB2IP_uc003jui.1_Missense_Mutation_p.F720L|ERBB2IP_uc003juj.1_Missense_Mutation_p.F720L|ERBB2IP_uc011cqx.1_Missense_Mutation_p.F720L|ERBB2IP_uc011cqy.1_Missense_Mutation_p.F720L|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Missense_Mutation_p.F716L|ERBB2IP_uc003jul.1_Missense_Mutation_p.F716L NM_018695 NP_061165 Q96RT1 LAP2_HUMAN ERBB2 interacting protein isoform 2 720 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton ovary(3)|lung(2)|central_nervous_system(2) 7 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) AGGAAAAGTTCAAAGCTCATG 0.289 NA 12 75 0 0 0.001368 0 0 CARTPT 9607 broad.mit.edu 37 5 71015107 71015107 + Translation_Start_Site SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:71015107C>T uc003kbv.1 + 1 114 c.-13C>T c.(-15--11)GACGA>GATGA NM_004291 NP_004282 Q16568 CART_HUMAN cocaine- and amphetamine-regulated transcript activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission extracellular space ovary(1) 1 Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;8.4e-56) Amphetamine(DB00182) CCAGCAACGACGAGTTTCAGA 0.652 NA 13 66 0 0 0.001855 0 0 ZNF366 167465 broad.mit.edu 37 5 71756824 71756824 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:71756824G>T uc003kce.1 - 2 686 c.500C>A c.(499-501)ACT>AAT p.T167N NM_152625 NP_689838 Q8N895 ZN366_HUMAN zinc finger protein 366 167 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) CAGGAATGGAGTGGGCGTTGG 0.642 NA 25 86 6.36457e-07 8.03702e-07 0.003954 1 0 PAM 5066 broad.mit.edu 37 5 102326096 102326097 + Missense_Mutation DNP GG GG TT TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:102326096_102326097GG>TT uc003knw.2 + 15 1977_1978 c.1604_1605GG>TT c.(1603-1605)TGG>TTT p.W535F PAM_uc003kns.2_Missense_Mutation_p.W428F|PAM_uc003knt.2_Missense_Mutation_p.W535F|PAM_uc003knu.2_Missense_Mutation_p.W535F|PAM_uc003knv.2_Missense_Mutation_p.W535F|PAM_uc011cuz.1_Missense_Mutation_p.W438F|PAM_uc003knx.1_Missense_Mutation_p.W138F NM_000919 NP_000910 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 535 Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).|NHL 1.|Intragranular (Potential). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding 0 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) GACCATGTCTGGGATGGAAAGT 0.371 NA 3 17 0 0 0.004672 0 0 PRR16 51334 broad.mit.edu 37 5 120021716 120021716 + Missense_Mutation SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:120021716A>T uc003ksq.2 + 2 390 c.227A>T c.(226-228)AAA>ATA p.K76I PRR16_uc003ksp.2_Missense_Mutation_p.K53I|PRR16_uc003ksr.2_Missense_Mutation_p.K6I NM_016644 NP_057728 Q569H4 PRR16_HUMAN proline rich 16 76 pancreas(2)|ovary(1) 3 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) GACAGCTCCAAAACGGACACG 0.493 NA 10 42 0 0 0.008291 0 0 SLC22A4 6583 broad.mit.edu 37 5 131630391 131630391 + Missense_Mutation SNP A A G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:131630391A>G uc003kwq.2 + 1 247 c.82A>G c.(82-84)AGC>GGC p.S28G uc003kwm.3_Intron|SLC22A4_uc010jdq.1_5'Flank NM_003059 NP_003050 Q9H015 S22A4_HUMAN solute carrier family 22 member 4 28 Helical; Name=1; (Potential). body fluid secretion|sodium ion transport apical plasma membrane|integral to plasma membrane|mitochondrion ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity 0 all_cancers(142;0.0752)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) GCTCAGCGCCAGCATCATCCC 0.657 NA 10 41 0 0 0.000978 0 0 TIFAB 497189 broad.mit.edu 37 5 134785609 134785609 + Silent SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:134785609G>T uc003law.3 - 2 222 c.21C>A c.(19-21)GTC>GTA p.V7V C5orf20_uc003lav.2_5'Flank NM_001099221 NP_001092691 Q6ZNK6 TIFAB_HUMAN TIFA-related protein TIFAB 7 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TCACTCGCAGGACGGTGAGGG 0.602 NA 16 58 5.3912e-06 6.52223e-06 0.006122 1 0 CDC25C 995 broad.mit.edu 37 5 137627777 137627777 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:137627777G>T uc003lcp.1 - 8 915 c.644C>A c.(643-645)CCG>CAG p.P215Q CDC25C_uc003lcq.1_Missense_Mutation_p.P142Q|CDC25C_uc003lcr.1_Missense_Mutation_p.P215Q|CDC25C_uc011cyp.1_Missense_Mutation_p.P232Q|CDC25C_uc003lcs.1_Missense_Mutation_p.P293Q NM_001790 NP_001781 P30307 MPIP3_HUMAN cell division cycle 25C isoform a 215 cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding lung(3) 3 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) TGGCATCGACGGGGAGCGATA 0.333 NA 22 87 2.70639e-06 3.32061e-06 0.002299 1 0 ITK 3702 broad.mit.edu 37 5 156671307 156671307 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:156671307G>T uc003lwo.1 + 13 1350 c.1268G>T c.(1267-1269)GGG>GTG p.G423V NM_005546 NP_005537 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 423 Protein kinase. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1) 26 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CAGCTGTATGGGGTGTGCCTG 0.522 Esophageal Squamous(70;1378 1469 8785 19883) NA T SYK peripheral T-cell lymphoma 9 42 3.07112e-06 3.75479e-06 0.000978 1 0 ATP10B 23120 broad.mit.edu 37 5 160025868 160025868 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:160025868G>T uc003lym.1 - 22 4320 c.3473C>A c.(3472-3474)CCT>CAT p.P1158H ATP10B_uc010jit.1_Intron NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 1158 Helical; (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GACAAGAGGAGGCAAGGAGGT 0.458 NA 43 107 6.5261e-18 1.03106e-17 0.00874 1 0 GABRA1 2554 broad.mit.edu 37 5 161300189 161300189 + Missense_Mutation SNP A A G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:161300189A>G uc010jiw.2 + 6 790 c.322A>G c.(322-324)ATG>GTG p.M108V GABRA1_uc010jix.2_Missense_Mutation_p.M108V|GABRA1_uc010jiy.2_Missense_Mutation_p.M108V|GABRA1_uc003lyx.3_Missense_Mutation_p.M108V|GABRA1_uc010jiz.2_Missense_Mutation_p.M108V|GABRA1_uc010jja.2_Missense_Mutation_p.M108V|GABRA1_uc010jjb.2_Missense_Mutation_p.M108V NM_000806 NP_000797 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 108 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|pancreas(1) 3 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) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) TAAAGGACCTATGACAGTCCT 0.383 NA 11 67 0 0 0.000978 0 0 ODZ2 57451 broad.mit.edu 37 5 167674702 167674702 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:167674702G>T uc010jjd.2 + 27 6731 c.6731G>T c.(6730-6732)CGG>CTG p.R2244L ODZ2_uc003lzr.3_Missense_Mutation_p.R2014L|ODZ2_uc003lzt.3_Missense_Mutation_p.R1617L|ODZ2_uc010jje.2_Missense_Mutation_p.R1508L NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) CTCCGGGATCGGATAACCAGA 0.532 NA 17 40 4.75885e-15 7.41694e-15 0.00499 1 0 ZNF454 285676 broad.mit.edu 37 5 178392679 178392679 + Nonsense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:178392679C>G uc003mjo.1 + 5 1545 c.1274C>G c.(1273-1275)TCA>TGA p.S425* ZNF454_uc010jkz.1_Nonsense_Mutation_p.S425* NM_182594 NP_872400 Q8N9F8 ZN454_HUMAN zinc finger protein 454 425 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) CGGGACCAATCAGCACTAGCC 0.433 NA 9 26 0 0 0.004482 0 0 OR2V2 285659 broad.mit.edu 37 5 180582665 180582665 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr5:180582665C>T uc011dhj.1 + 1 723 c.723C>T c.(721-723)ACC>ACT p.T241T NM_206880 NP_996763 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, 241 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCTGGCCACCTGCTCCTCCC 0.577 NA 14 76 0 0 0.00245 0 0 RREB1 6239 broad.mit.edu 37 6 7229815 7229815 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr6:7229815G>T uc003mxc.2 + 10 1873 c.1483G>T c.(1483-1485)GCC>TCC p.A495S RREB1_uc003mxb.2_Missense_Mutation_p.A495S|RREB1_uc010jnx.2_Missense_Mutation_p.A495S NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 495 Pro-rich. multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) GGCCCCTGCCGCCCCACTGCA 0.642 NA 27 502 6.07407e-21 9.77502e-21 0.007291 1 0 ATXN1 6310 broad.mit.edu 37 6 16327906 16327906 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr6:16327906C>A uc003nbt.2 - 8 1607 c.636G>T c.(634-636)CAG>CAT p.Q212H ATXN1_uc010jpi.2_Missense_Mutation_p.Q212H|ATXN1_uc010jpj.1_Intron NM_000332 NP_000323 P54253 ATX1_HUMAN ataxin 1 212 Poly-Gln. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association skin(3)|central_nervous_system(1) 4 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) gctgctgctgctgatgctgat 0.383 NA 3 19 0.004672 0.00500468 0.004672 1 0 HIST1H3C 8352 broad.mit.edu 37 6 26045648 26045648 + Missense_Mutation SNP A A G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr6:26045648A>G uc003nfv.2 + 1 10 c.10A>G c.(10-12)ACG>GCG p.T4A HIST1H2BB_uc003nfu.2_5'Flank NM_003531 NP_003522 P68431 H31_HUMAN histone cluster 1, H3c 4 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 AATGGCTCGTACGAAGCAAAC 0.502 NA 12 67 0 0 0.001855 0 0 HIST1H1T 3010 broad.mit.edu 37 6 26107828 26107828 + Missense_Mutation SNP C C T rs143795730 TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr6:26107828C>T uc003ngj.2 - 1 537 c.494G>A c.(493-495)AGG>AAG p.R165K NM_005323 NP_005314 P22492 H1T_HUMAN histone cluster 1, H1t 165 cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis nucleosome DNA binding ovary(2) 2 TCTCCCGCTCCTAACAGTTTT 0.478 NA 16 146 0 0 0.00499 0 0 HIST1H2AL 8332 broad.mit.edu 37 6 27833185 27833185 + Missense_Mutation SNP G G C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr6:27833185G>C uc003njw.2 + 1 79 c.53G>C c.(52-54)CGC>CCC p.R18P NM_003511 NP_003502 P0C0S8 H2A1_HUMAN histone cluster 1, H2al 18 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding 0 GCCAAGACCCGCTCTTCTCGT 0.632 NA 24 128 0 0 0.004656 0 0 OR2B2 81697 broad.mit.edu 37 6 27879515 27879515 + Missense_Mutation SNP T T G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr6:27879515T>G uc011dkw.1 - 1 583 c.583A>C c.(583-585)AAT>CAT p.N195H NM_033057 NP_149046 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, 195 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCAGCCTCATTTGCTGTTGTG 0.433 NA 15 84 0 0 0.00245 0 0 C6orf138 442213 broad.mit.edu 37 6 47846204 47846204 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr6:47846204C>A uc011dwm.1 - 3 2410 c.2325G>T c.(2323-2325)GGG>GGT p.G775G C6orf138_uc011dwn.1_Silent_p.G539G NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 792 Helical; (Potential). integral to membrane hedgehog receptor activity central_nervous_system(1) 1 GTGTGCAACCCCCAGTGAGCA 0.428 NA 5 61 1.23904e-05 1.47322e-05 0.000602 1 0 GFRAL 389400 broad.mit.edu 37 6 55214912 55214912 + Missense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr6:55214912C>G uc003pcm.1 + 4 425 c.339C>G c.(337-339)TTC>TTG p.F113L NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 113 Extracellular (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AGGATAAATTCAAATGGAATC 0.303 NA 11 47 0 0 0.000978 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55364050 55364050 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr6:55364050G>T uc003pcn.2 - 7 839 c.680C>A c.(679-681)CCG>CAG p.P227Q HMGCLL1_uc003pco.2_Missense_Mutation_p.P197Q|HMGCLL1_uc010jzx.2_Missense_Mutation_p.P98Q|HMGCLL1_uc011dxc.1_Missense_Mutation_p.P165Q|HMGCLL1_uc011dxd.1_Intron|HMGCLL1_uc011dxe.1_Intron NM_019036 NP_061909 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-Coenzyme A 227 hydroxymethylglutaryl-CoA lyase activity|metal ion binding skin(2)|ovary(1)|pancreas(1) 4 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) CACTTTTTGCGGTGTAATACT 0.318 Ovarian(35;840 893 7837 15538 42887) NA 7 68 3.86212e-05 4.41021e-05 0.008291 1 0 DST 667 broad.mit.edu 37 6 56457018 56457018 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr6:56457018C>T uc003pdf.2 - 43 6536 c.6508G>A c.(6508-6510)GAC>AAC p.D2170N DST_uc003pcz.3_Missense_Mutation_p.D1992N|DST_uc011dxj.1_Missense_Mutation_p.D2021N|DST_uc011dxk.1_Missense_Mutation_p.D2032N|DST_uc003pcy.3_Missense_Mutation_p.D1666N|DST_uc010kaa.1_RNA NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 4078 Spectrin 3. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTTTTGGGGTCCACCGCAATA 0.433 NA 11 10 0 0 0.001855 0 0 COL12A1 1303 broad.mit.edu 37 6 75848603 75848603 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr6:75848603C>T uc003phs.2 - 28 5198 c.5032G>A c.(5032-5034)GGA>AGA p.G1678R COL12A1_uc003pht.2_Missense_Mutation_p.G514R NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 1678 Fibronectin type-III 12. 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 TCTGAAGCTCCATGATCCCAA 0.438 NA 10 20 0 0 0.006214 0 0 TBX18 9096 broad.mit.edu 37 6 85453977 85453977 + Splice_Site SNP A A C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr6:85453977A>C uc003pkl.1 - 6 1004 c.1004_splice c.e6+1 p.R335_splice TBX18_uc010kbq.1_Splice_Site_p.R177_splice NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) ACTAAGGCCCACCTGTTGCGC 0.338 NA 13 4 0 0 0.00245 0 0 AMZ1 155185 broad.mit.edu 37 7 2740255 2740255 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:2740255C>T uc003smr.1 + 2 531 c.170C>T c.(169-171)ACC>ATC p.T57I AMZ1_uc003sms.1_Missense_Mutation_p.T57I|AMZ1_uc011jwa.1_5'Flank NM_133463 NP_597720 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 57 metallopeptidase activity|zinc ion binding 0 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) CTCTTCTGCACCCTGCTCATC 0.677 NA 40 122 0 0 0.005524 0 0 ZNF12 7559 broad.mit.edu 37 7 6731811 6731811 + Silent SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:6731811C>T uc003sqt.1 - 5 1316 c.762G>A c.(760-762)TCG>TCA p.S254S ZNF12_uc011jxa.1_Silent_p.S92S|ZNF12_uc003sqs.1_Silent_p.S216S NM_016265 NP_057349 P17014 ZNF12_HUMAN zinc finger protein 12 isoform a 254 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) CAGTGAGGTCCGACATCTGGA 0.383 NA 13 20 0 0 0.001368 0 0 HDAC9 9734 broad.mit.edu 37 7 18788664 18788664 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:18788664G>T uc003suh.2 + 13 1978 c.1937G>T c.(1936-1938)TGC>TTC p.C646F HDAC9_uc003sue.2_Missense_Mutation_p.C646F|HDAC9_uc011jyd.1_Missense_Mutation_p.C646F|HDAC9_uc003sui.2_Missense_Mutation_p.C649F|HDAC9_uc003suj.2_Missense_Mutation_p.C605F|HDAC9_uc003sua.1_Missense_Mutation_p.C624F|HDAC9_uc010kue.1_Missense_Mutation_p.C301F NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 646 Histone deacetylase. HQCV -> KPNS (in Ref. 8; AAF04254). B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) AAACACCAGTGCGTTTGTGGC 0.448 NA 6 26 2.7689e-08 3.65663e-08 0.001984 1 0 HECW1 23072 broad.mit.edu 37 7 43484944 43484944 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:43484944G>A uc003tid.1 + 11 2778 c.2173G>A c.(2173-2175)GCC>ACC p.A725T HECW1_uc011kbi.1_Missense_Mutation_p.A725T NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 725 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 CGTGGACAGCGCCAAGATCTC 0.627 NA 18 92 0 0 0.007413 0 0 COBL 23242 broad.mit.edu 37 7 51261079 51261079 + Silent SNP A A G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:51261079A>G uc003tpr.3 - 3 638 c.453T>C c.(451-453)CCT>CCC p.P151P COBL_uc003tps.2_Silent_p.P151P|COBL_uc011kcl.1_Silent_p.P151P|COBL_uc010kzc.2_Silent_p.P151P|COBL_uc003tpt.2_Silent_p.P151P|COBL_uc003tpp.3_5'Flank|COBL_uc003tpq.3_Silent_p.P67P NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 151 skin(3)|ovary(2) 5 Glioma(55;0.08) TACTAACCTCAGGCACCTTAG 0.463 NSCLC(189;2119 2138 12223 30818 34679) NA 6 22 0 0 0.001168 0 0 CACNA2D1 781 broad.mit.edu 37 7 81579728 81579728 + Missense_Mutation SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:81579728T>A uc003uhr.1 - 39 3512 c.3256A>T c.(3256-3258)AGC>TGC p.S1086C uc003uhq.1_5'Flank|CACNA2D1_uc011kgy.1_Missense_Mutation_p.S298C NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 1098 Cytoplasmic (Potential). voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CGGTGTGTGCTGCCAGATACC 0.448 NA 14 60 0 0 0.004007 0 0 TMEM130 222865 broad.mit.edu 37 7 98460868 98460868 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:98460868G>A uc003upo.2 - 2 430 c.241C>T c.(241-243)CTT>TTT p.L81F TMEM130_uc011kiq.1_Missense_Mutation_p.L62F|TMEM130_uc011kir.1_Missense_Mutation_p.L81F|TMEM130_uc003upn.2_Intron NM_001134450 NP_001127922 Q8N3G9 TM130_HUMAN transmembrane protein 130 isoform a 81 Extracellular (Potential). Golgi membrane|integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TTGCCAGTAAGCACCAGCGGG 0.657 NA 15 24 0 0 0.003163 0 0 C7orf51 222950 broad.mit.edu 37 7 100084640 100084640 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:100084640G>A uc003uvd.1 + 3 424 c.265G>A c.(265-267)GGC>AGC p.G89S C7orf51_uc003uve.1_5'Flank NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN hypothetical protein FLJ37538 89 skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCACTCGGTGGGCAGCATGGA 0.711 NA 8 18 0 0 0.006214 0 0 LAMB4 22798 broad.mit.edu 37 7 107756519 107756519 + Missense_Mutation SNP G G T rs140462508 byFrequency TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:107756519G>T uc010ljo.1 - 3 206 c.122C>A c.(121-123)ACG>AAG p.T41K LAMB4_uc003vey.2_Missense_Mutation_p.T41K NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 41 Laminin N-terminal. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 CATAAGCTGCGTGTTCCTGCC 0.522 NA 15 99 1.3612e-06 1.69416e-06 0.003163 1 0 EIF3IP1 442720 broad.mit.edu 37 7 109599884 109599884 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:109599884C>A uc003vfp.1 - 1 387 c.214G>T c.(214-216)GTG>TTG p.V72L NR_003024 Homo sapiens eukaryotic translation initiation factor 3, subunit I pseudogene 1 (EIF3IP1), non-coding RNA. 0 AAGAAGCTCACAAAGCACTGA 0.463 NA 11 12 3.86212e-05 4.41021e-05 0.008291 1 0 FAM131B 9715 broad.mit.edu 37 7 143053838 143053838 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:143053838C>A uc003wct.2 - 6 2510 c.804G>T c.(802-804)CTG>CTT p.L268L FAM131B_uc010loz.2_Silent_p.L236L|FAM131B_uc003wcu.3_Silent_p.L268L|FAM131B_uc010lpa.2_Silent_p.L296L NM_014690 NP_055505 Q86XD5 F131B_HUMAN hypothetical protein LOC9715 isoform b 268 0 Melanoma(164;0.205) GGCCCCTTGCCAGGTCCACTG 0.632 NA 24 172 5.45024e-15 8.45643e-15 0.00333 1 0 OR2A25 392138 broad.mit.edu 37 7 143771460 143771460 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:143771460C>A uc011ktx.1 + 1 148 c.148C>A c.(148-150)CTG>ATG p.L50M NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, 50 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) GCTCATCTCACTGGACTCCAG 0.562 NA 10 93 4.68919e-08 6.12249e-08 0.008291 1 0 ZNF467 168544 broad.mit.edu 37 7 149462585 149462585 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr7:149462585C>A uc003wgd.2 - 5 1147 c.1006G>T c.(1006-1008)GCT>TCT p.A336S ZNF467_uc003wgc.2_Intron NM_207336 NP_997219 Q7Z7K2 ZN467_HUMAN zinc finger protein 467 336 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGAGGAGAAGCGGACGAGTCG 0.657 NA 5 9 0.00116845 0.00127534 0.001168 1 0 CSMD1 64478 broad.mit.edu 37 8 2824155 2824155 + Missense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:2824155C>G uc011kwk.1 - 58 9430 c.9040G>C c.(9040-9042)GGG>CGG p.G3014R CSMD1_uc011kwj.1_Missense_Mutation_p.G2343R|CSMD1_uc010lrg.2_Intron NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3014 Extracellular (Potential).|Sushi 23. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTCATGAGCCCTGAGGTCTTG 0.537 NA 9 14 0 0 0.004482 0 0 EFHA2 286097 broad.mit.edu 37 8 16942779 16942779 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:16942779G>T uc003wxd.2 + 6 771 c.729G>T c.(727-729)ATG>ATT p.M243I NM_181723 NP_859074 Q86XE3 EFHA2_HUMAN EF-hand domain family, member A2 243 EF-hand 1. integral to membrane calcium ion binding skin(1) 1 Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239) CTTTCAACATGTTTGACACTG 0.328 Pancreas(177;1461 2846 10523 14242)|Colon(184;2703 2719 18484 23400) NA 8 50 1.58986e-06 1.95763e-06 0.008291 1 0 ADAM7 8756 broad.mit.edu 37 8 24342843 24342843 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:24342843G>T uc003xeb.2 + 10 1042 c.929G>T c.(928-930)TGC>TTC p.C310F ADAM7_uc003xec.2_Missense_Mutation_p.C82F NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN a disintegrin and metalloproteinase domain 7 310 Peptidase M12B.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding skin(3)|ovary(1)|kidney(1) 5 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) GGGGGTATGTGCCTGCCCTAT 0.358 NA 35 43 4.00102e-26 6.52996e-26 0.00623 1 0 WRN 7486 broad.mit.edu 37 8 30924680 30924680 + Silent SNP T T C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:30924680T>C uc003xio.3 + 6 1424 c.636T>C c.(634-636)TAT>TAC p.Y212Y NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 212 Interaction with WRNIP1 (By similarity).|3'-5' exonuclease. Y->F: Strongly reduces exonuclease activity. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) AGAAACTGTATGCAGCCACTG 0.343 Ovarian(18;161 598 2706 14834 27543) NA Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome 5 44 0 0 0.001168 0 0 LOC728024 728024 broad.mit.edu 37 8 37605155 37605155 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:37605155C>T uc010lvx.1 - 1 367 c.221G>A c.(220-222)GGC>GAC p.G74D ERLIN2_uc003xke.3_Intron NR_003671 SubName: Full=cDNA FLJ38978 fis, clone NT2RI2004209; SubName: Full=Chromosome X open reading frame 56, isoform CRA_b; SubName: Full=Putative uncharacterized protein CXorf56; 0 AAAGCCCTGGCCAAACTTGAC 0.468 NA 58 45 0 0 0.00361 0 0 CYP7A1 1581 broad.mit.edu 37 8 59407086 59407086 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:59407086G>T uc003xtm.3 - 4 1081 c.1018C>A c.(1018-1020)CTG>ATG p.L340M NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 340 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) AGGTCATTCAGTTCTGCTTGA 0.328 NA Neonatal_Giant_Cell_Hepatitis 6 53 0.00116845 0.00127534 0.001168 1 0 CPA6 57094 broad.mit.edu 37 8 68423860 68423860 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:68423860C>A uc003xxq.3 - 4 604 c.348G>T c.(346-348)CTG>CTT p.L116L CPA6_uc003xxr.3_5'UTR|CPA6_uc003xxs.2_Silent_p.L116L NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 isoform 1 precursor 116 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) TTCCCTTCTCCAGTGTTTTCT 0.383 NA 27 236 9.39395e-14 1.41318e-13 0.00632 1 0 ZFHX4 79776 broad.mit.edu 37 8 77618376 77618376 + Missense_Mutation SNP A A T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:77618376A>T uc003yav.2 + 2 2440 c.2053A>T c.(2053-2055)AGG>TGG p.R685W ZFHX4_uc003yat.1_Missense_Mutation_p.R685W|ZFHX4_uc003yau.1_Missense_Mutation_p.R685W|ZFHX4_uc003yaw.1_Missense_Mutation_p.R685W NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 685 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCCTCACCCCAGGCTTGCCCG 0.502 NA HNSCC(33;0.089) 6 77 0 0 0.001168 0 0 RUNX1T1 862 broad.mit.edu 37 8 93026891 93026891 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:93026891C>A uc003yfd.2 - 3 468 c.384G>T c.(382-384)AGG>AGT p.R128S RUNX1T1_uc003yfc.1_Missense_Mutation_p.R101S|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R91S|RUNX1T1_uc010mao.2_Missense_Mutation_p.R101S|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R139S|RUNX1T1_uc003yfh.1_Missense_Mutation_p.R91S|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R91S|RUNX1T1_uc003yff.1_Missense_Mutation_p.R91S|RUNX1T1_uc003yfg.1_Missense_Mutation_p.R91S NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 128 TAFH. R->D: Loss of interaction with TCF12. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) TAGTAAGGAACCTTTTCAGCT 0.522 NA 29 106 7.26314e-15 1.1219e-14 0.007291 1 0 GRHL2 79977 broad.mit.edu 37 8 102570830 102570830 + Silent SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:102570830G>T uc010mbu.2 + 4 798 c.468G>T c.(466-468)ACG>ACT p.T156T GRHL2_uc011lhi.1_Silent_p.T156T NM_024915 NP_079191 Q6ISB3 GRHL2_HUMAN transcription factor CP2-like 3 156 cytoplasm|nucleus DNA binding ovary(2)|skin(1) 3 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) CGGGAATCACGGTGGTGAAAG 0.522 NA 79 76 1.63007e-36 2.71156e-36 0.00361 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110451174 110451174 + Missense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:110451174C>G uc003yne.2 + 32 3913 c.3809C>G c.(3808-3810)ACA>AGA p.T1270R NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1270 Extracellular (Potential).|IPT/TIG 6. 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) AATGAACTCACACAAAACATG 0.343 NA HNSCC(38;0.096) 50 30 0 0 0.00361 0 0 CSMD3 114788 broad.mit.edu 37 8 113275890 113275890 + Missense_Mutation SNP A A C TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:113275890A>C uc003ynu.2 - 61 9999 c.9840T>G c.(9838-9840)AGT>AGG p.S3280R CSMD3_uc003yns.2_Missense_Mutation_p.S2482R|CSMD3_uc003ynt.2_Missense_Mutation_p.S3240R|CSMD3_uc011lhx.1_Missense_Mutation_p.S3111R NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3280 Sushi 25.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GTACTTCACCACTCCAGGTAC 0.393 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 7 41 0 0 0.001984 0 0 COL14A1 7373 broad.mit.edu 37 8 121259915 121259915 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:121259915C>T uc003yox.2 + 21 2808 c.2543C>T c.(2542-2544)ACG>ATG p.T848M COL14A1_uc003yoy.2_Missense_Mutation_p.T526M NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 848 Fibronectin type-III 7. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TTGCGCATTACGTGGGACCCC 0.468 NA 38 84 0 0 0.007835 0 0 TBC1D2 55357 broad.mit.edu 37 9 100971119 100971119 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr9:100971119C>T uc011lvb.1 - 9 2161 c.1981G>A c.(1981-1983)GCC>ACC p.A661T TBC1D2_uc004ayp.2_Missense_Mutation_p.A201T|TBC1D2_uc004ayq.2_Missense_Mutation_p.A661T|TBC1D2_uc004ayr.2_Missense_Mutation_p.A443T|TBC1D2_uc004ayo.3_Missense_Mutation_p.A661T NM_018421 NP_060891 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 661 Rab-GAP TBC. cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity ovary(3) 3 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) TGCTCGCGGGCCTGGCCCCGG 0.652 NA 9 37 0 0 0.006214 0 0 ABCA1 19 broad.mit.edu 37 9 107602707 107602707 + Missense_Mutation SNP C C T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr9:107602707C>T uc004bcl.2 - 9 1220 c.907G>A c.(907-909)GCT>ACT p.A303T NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 303 Extracellular. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CGAGACACAGCCTGGTAGATT 0.537 NA 10 34 0 0 0.008291 0 0 KIAA0368 23392 broad.mit.edu 37 9 114134778 114134778 + Missense_Mutation SNP C C G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr9:114134778C>G uc004bfe.1 - 43 4993 c.4993G>C c.(4993-4995)GCT>CCT p.A1665P NM_001080398 NP_001073867 KIAA0368 protein 0 TCCTCATCAGCAATTTCATGC 0.413 NA 12 47 0 0 0.000978 0 0 DNAJC25 548645 broad.mit.edu 37 9 114411817 114411817 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr9:114411817G>A uc004bfl.2 + 3 630 c.574G>A c.(574-576)GCC>ACC p.A192T DNAJC25-GNG10_uc004bfn.2_Intron|DNAJC25_uc004bfm.2_Missense_Mutation_p.A70T NM_001015882 NP_001015882 Q9H1X3 DJC25_HUMAN DnaJ (Hsp40) homolog, subfamily C , member 25 192 protein folding integral to membrane heat shock protein binding|unfolded protein binding 0 TACAGAGATTGCCAAGCAGCA 0.413 NA 5 12 0 0 0.000602 0 0 OR1N2 138882 broad.mit.edu 37 9 125316283 125316284 + Missense_Mutation DNP CC CC AA rs142706201 TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr9:125316283_125316284CC>AA uc011lyx.1 + 1 835_836 c.835_836CC>AA c.(835-837)CCT>AAT p.P279N NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, 279 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 GTATTTACTTCCTCCATCAACT 0.46 NA 17 51 0 0 0.004672 0 0 OR1K1 392392 broad.mit.edu 37 9 125562914 125562914 + Silent SNP T T G TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr9:125562914T>G uc011lze.1 + 1 513 c.513T>G c.(511-513)GCT>GCG p.A171A NM_080859 NP_543135 Q8NGR3 OR1K1_HUMAN olfactory receptor, family 1, subfamily K, 171 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CCTTCTGTGCTTCCCACCAAG 0.607 NA 28 63 0 0 0.008361 0 0 CRB2 286204 broad.mit.edu 37 9 126125320 126125320 + Missense_Mutation SNP G G A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr9:126125320G>A uc004bnx.1 + 2 363 c.271G>A c.(271-273)GGC>AGC p.G91S CRB2_uc004bnw.1_Missense_Mutation_p.G91S NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 precursor 91 Extracellular (Potential).|EGF-like 1. extracellular region|integral to membrane|plasma membrane calcium ion binding ovary(1) 1 AGATCCCACCGGCTTCCGCTG 0.692 NA 8 40 0 0 0.004482 0 0 MAGEB4 4115 broad.mit.edu 37 X 30260330 30260330 + Missense_Mutation SNP G G T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chrX:30260330G>T uc004dcb.2 + 1 162 c.78G>T c.(76-78)AAG>AAT p.K26N MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank NM_002367 NP_002358 O15481 MAGB4_HUMAN melanoma antigen family B, 4 26 ovary(1) 1 AGGATCTCAAGGTTGGTCAGC 0.562 NA 16 4 6.31663e-08 8.12473e-08 0.003163 1 0 PCDH11X 27328 broad.mit.edu 37 X 91873753 91873753 + Silent SNP T T A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chrX:91873753T>A uc004efk.1 + 7 4703 c.3858T>A c.(3856-3858)GCT>GCA p.A1286A PCDH11X_uc004efl.1_Silent_p.A1276A|PCDH11X_uc004efo.1_Silent_p.A1249A|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Silent_p.A1278A|PCDH11X_uc004efn.1_Silent_p.A1268A NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1286 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 TGCAAGGTGCTGATGGGCTAT 0.488 NSCLC(38;925 1092 2571 38200 45895) NA 59 123 0 0 0.00361 0 0 RHOXF1 158800 broad.mit.edu 37 X 119249424 119249424 + Nonsense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chrX:119249424C>A uc004esk.1 - 1 424 c.349G>T c.(349-351)GAG>TAG p.E117* uc004esi.1_Intron NM_139282 NP_644811 Q8NHV9 RHXF1_HUMAN Rhox homeobox family, member 1 117 Homeobox. gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CTTTCCAGCTCCTCCACCTGC 0.617 NA 50 25 1.46156e-29 2.40809e-29 0.00361 1 0 GPR112 139378 broad.mit.edu 37 X 135430302 135430302 + Silent SNP A A C rs149471297 TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chrX:135430302A>C uc004ezu.1 + 6 4728 c.4437A>C c.(4435-4437)ACA>ACC p.T1479T GPR112_uc010nsb.1_Silent_p.T1274T|GPR112_uc010nsc.1_Silent_p.T1246T NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1479 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) ACGGTTTTACAGTTCTCTCCG 0.443 NA 63 41 0 0 0.00361 0 0 SLITRK2 84631 broad.mit.edu 37 X 144904123 144904123 + Silent SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chrX:144904123C>A uc004fcd.2 + 5 1170 c.180C>A c.(178-180)CCC>CCA p.P60P SLITRK2_uc010nsp.2_Silent_p.P60P|SLITRK2_uc010nso.2_Silent_p.P60P|SLITRK2_uc011mwq.1_Silent_p.P60P|SLITRK2_uc011mwr.1_Silent_p.P60P|SLITRK2_uc011mws.1_Silent_p.P60P|SLITRK2_uc004fcg.2_Silent_p.P60P|SLITRK2_uc011mwt.1_Silent_p.P60P NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 60 Extracellular (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TCCAGCCCCCCCAGTATCGAA 0.433 NA 24 8 1.10513e-12 1.63409e-12 0.002299 1 0 SLITRK2 84631 broad.mit.edu 37 X 144906140 144906140 + Missense_Mutation SNP C C A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chrX:144906140C>A uc004fcd.2 + 5 3187 c.2197C>A c.(2197-2199)CCT>ACT p.P733T SLITRK2_uc010nsp.2_Missense_Mutation_p.P733T|SLITRK2_uc010nso.2_Missense_Mutation_p.P733T|SLITRK2_uc011mwq.1_Missense_Mutation_p.P733T|SLITRK2_uc011mwr.1_Missense_Mutation_p.P733T|SLITRK2_uc011mws.1_Missense_Mutation_p.P733T|SLITRK2_uc004fcg.2_Missense_Mutation_p.P733T|SLITRK2_uc011mwt.1_Missense_Mutation_p.P733T|CXorf1_uc004fch.2_5'Flank NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 733 Cytoplasmic (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) GCCAGCCACACCTGCTTACAC 0.483 NA 55 39 1.57914e-17 2.48356e-17 0.00361 1 0 SEC24C 9632 broad.mit.edu 37 10 75506613 75506614 + Frame_Shift_Ins INS - - A TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:75506613_75506614insA uc001juw.2 + 3 202_203 c.23_24insA c.(22-24)CCAfs p.P8fs SEC24C_uc010qkn.1_Intron|SEC24C_uc009xrj.1_5'UTR|SEC24C_uc001jux.2_Frame_Shift_Ins_p.P8fs|SEC24C_uc010qko.1_5'UTR|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron NM_004922 NP_004913 P53992 SC24C_HUMAN SEC24-related protein C 8 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding skin(2)|central_nervous_system(1) 3 Prostate(51;0.0112) CAGTCAGTTCCACCTGTGCCAC 0.495 NA 18 72 --- --- --- --- NA NA NA NA NA ZNF511 118472 broad.mit.edu 37 10 135125341 135125342 + Frame_Shift_Ins INS - - AT TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr10:135125341_135125342insAT uc001lml.1 + 5 701_702 c.676_677insAT c.(676-678)CATfs p.H226fs TUBGCP2_uc001lmg.1_5'Flank|TUBGCP2_uc010qvc.1_5'Flank|TUBGCP2_uc009ybk.1_5'Flank|TUBGCP2_uc010qvd.1_5'Flank|TUBGCP2_uc001lmh.1_RNA|ZNF511_uc001lmj.1_Frame_Shift_Ins_p.H226fs|ZNF511_uc001lmk.1_3'UTR|ZNF511_uc001lmm.1_RNA Q8NB15 ZN511_HUMAN SubName: Full=cDNA FLJ78327; SubName: Full=Zinc finger protein 511, isoform CRA_d; 226 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06) GATCTACAGACATAGGTCAGTG 0.574 NA 26 111 --- --- --- --- NA NA NA NA NA PRB3 5544 broad.mit.edu 37 12 11420746 11420746 + Frame_Shift_Del DEL G G - TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:11420746delG uc001qzs.2 - 3 475 c.437delC c.(436-438)CCAfs p.P146fs PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 146 10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|5.|Pro-rich. extracellular region Gram-negative bacterial cell surface binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.201) TCCTCCTTGTGGGGGTGGTCC 0.652 NA 8 150 --- --- --- --- NA NA NA NA NA PRB3 5544 broad.mit.edu 37 12 11420809 11420809 + Frame_Shift_Del DEL G G - TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:11420809delG uc001qzs.2 - 3 412 c.374delC c.(373-375)CCAfs p.P125fs PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 125 4.|10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich. extracellular region Gram-negative bacterial cell surface binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.201) TCCTCCTTGTGGGGGTGGTCC 0.647 NA 32 243 --- --- --- --- NA NA NA NA NA SNW1 22938 broad.mit.edu 37 14 78205113 78205127 + Splice_Site DEL ATTCATACCGGATAT ATTCATACCGGATAT - TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 ATTCATACCGGATAT ATTCATACCGGATAT - - ATTCATACCGGATAT ATTCATACCGGATAT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr14:78205113_78205127delATTCATACCGGATAT uc001xuf.2 - 5 560 c.533_splice c.e5+1 p.R178_splice SNW1_uc010tvm.1_Splice_Site_p.R103_splice|SNW1_uc010asu.2_Splice_Site_p.R16_splice|SNW1_uc010tvn.1_Splice_Site_p.R178_splice NM_012245 NP_036377 Q13573 SNW1_HUMAN SKI-interacting protein negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding ovary(1) 1 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) TCTAGGCATGATTCATACCGGATATACTGAGCAGG 0.423 NA 10 34 --- --- --- --- NA NA NA NA NA RHCG 51458 broad.mit.edu 37 15 90023607 90023608 + Frame_Shift_Ins INS - - T TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr15:90023607_90023608insT uc002bnz.2 - 4 578_579 c.554_555insA c.(553-555)CACfs p.H185fs RHCG_uc002bny.2_5'Flank|RHCG_uc002boa.2_RNA|RHCG_uc010bnq.1_Frame_Shift_Ins_p.H69fs NM_016321 NP_057405 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 185 Helical; (Potential). amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding kidney(1) 1 Lung NSC(78;0.0237)|all_lung(78;0.0478) CGCCAAATGTGTGGATGGTCAT 0.579 NA 21 100 --- --- --- --- NA NA NA NA NA Unknown 0 broad.mit.edu 37 17 78291021 78291021 + Frame_Shift_Del DEL G G - TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr17:78291021delG uc002jyf.2 + 16 2988 c.2845delG c.(2845-2847)GCGfs p.A949fs uc002jyg.1_Frame_Shift_Del_p.A680fs NM_020954 NP_066005 hypothetical protein LOC57714 NA CCAATTCCCCGCGGAGCATGG 0.562 NA 15 61 --- --- --- --- NA NA NA NA NA XIRP2 129446 broad.mit.edu 37 2 168106663 168106664 + Frame_Shift_Del DEL AC AC - TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 AC AC - - AC AC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:168106663_168106664delAC uc002udx.2 + 8 8779_8780 c.8761_8762delAC c.(8761-8763)ACAfs p.T2921fs XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Frame_Shift_Del_p.T2746fs|XIRP2_uc010fpq.2_Frame_Shift_Del_p.T2699fs|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Frame_Shift_Del_p.T267fs NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2746 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GCAAGAGATTACACAGAACAAA 0.381 NA 9 53 --- --- --- --- NA NA NA NA NA ZSWIM2 151112 broad.mit.edu 37 2 187692746 187692746 + Frame_Shift_Del DEL C C - TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr2:187692746delC uc002upu.1 - 9 1907 c.1867delG c.(1867-1869)GAGfs p.E623fs NM_182521 NP_872327 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM domain containing 2 623 apoptosis zinc ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) AAAGATAGCTCAGTACTTTTT 0.279 NA 8 24 --- --- --- --- NA NA NA NA NA FER1L6 654463 broad.mit.edu 37 8 124975538 124975538 + Frame_Shift_Del DEL G G - TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr8:124975538delG uc003yqw.2 + 3 303 c.97delG c.(97-99)GCAfs p.A33fs NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 33 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) TGACACTGAAGCACTGCAGGA 0.493 NA 17 110 --- --- --- --- NA NA NA NA NA KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-50-7109-01A-11D-2036-08 TCGA-50-7109-11A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 5efb21c5-9c0b-4442-b0cb-3c30b0869dba 49a93a1d-94d7-47f8-8e42-1585bde5d3ac g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 5 14 NA NA NA NA 0.0381472 0.0393998 0.00308 1 1