Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut PRAMEF1 65121 broad.mit.edu 37 1 12853591 12853591 + Missense_Mutation SNP C C A rs149382773 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:12853591C>A uc001auj.1 + 2 318 c.215C>A c.(214-216)ACG>AAG p.T72K NM_023013 NP_075389 O95521 PRAM1_HUMAN PRAME family member 1 72 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTGATGAAGACGCTTCATTTG 0.547 NA 59 97 1.89e-48 5.47e-48 1 0 PRAMEF2 65122 broad.mit.edu 37 1 12919600 12919600 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:12919600G>C uc001aum.1 + 3 427 c.340G>C c.(340-342)GCC>CCC p.A114P NM_023014 NP_075390 O60811 PRAM2_HUMAN PRAME family member 2 114 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAATTTCTGGGCCAGATGGCC 0.557 NA 149 238 0 0 0 0 OPRD1 4985 broad.mit.edu 37 1 29185538 29185538 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:29185538C>G uc001brf.1 + 2 542 c.300C>G c.(298-300)AGC>AGG p.S100R NM_000911 NP_000902 P41143 OPRD_HUMAN opioid receptor, delta 1 100 Helical; Name=2; (Potential). immune response|protein import into nucleus, translocation integral to plasma membrane delta-opioid receptor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647) TGGCCACCAGCACGCTGCCTT 0.488 NA 41 85 0 0 0 0 HMGB4 127540 broad.mit.edu 37 1 34329945 34329945 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:34329945C>A uc001bxp.2 + 2 1896 c.153C>A c.(151-153)TCC>TCA p.S51S CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.2_5'UTR NM_145205 NP_660206 Q8WW32 HMGB4_HUMAN HMG2 like isoform 1 51 nucleus DNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AATGGAGATCCATCTCAAAGC 0.403 NA 48 84 1.62e-15 4.18e-15 1 0 ZSWIM5 57643 broad.mit.edu 37 1 45506091 45506091 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:45506091G>A uc001cnd.2 - 7 1957 c.1729C>T c.(1729-1731)CTG>TTG p.L577L NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 577 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) TAGATTTCCAGTTGCCGCTGC 0.502 NA 46 46 0 0 0 0 C8A 731 broad.mit.edu 37 1 57349196 57349196 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:57349196G>T uc001cyo.2 + 6 829 c.697G>T c.(697-699)GCA>TCA p.A233S NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 233 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 TTATGATAATGCAAATGACCT 0.423 NA 14 45 0.000308642 0.000638298 1 0 DIRAS3 9077 broad.mit.edu 37 1 68512915 68512915 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:68512915G>A uc001ded.2 - 2 361 c.66C>T c.(64-66)GCC>GCT p.A22A uc001deb.1_Intron|uc001dec.1_Intron NM_004675 NP_004666 O95661 DIRA3_HUMAN DIRAS family, GTP-binding RAS-like 3 22 regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity skin(1) 1 GGATAAGCAGGGCGGGCAGAA 0.587 NA 28 38 0 0 0 0 PTGER3 5733 broad.mit.edu 37 1 71478100 71478100 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:71478100T>C uc001dfg.1 - 2 1196 c.965A>G c.(964-966)CAG>CGG p.Q322R PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.Q322R|PTGER3_uc001dfl.1_Missense_Mutation_p.Q322R|PTGER3_uc009wbm.1_Missense_Mutation_p.Q322R|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.Q322R|PTGER3_uc009wbn.1_Missense_Mutation_p.Q322R|PTGER3_uc009wbo.2_Missense_Mutation_p.Q322R|PTGER3_uc001dfo.2_Missense_Mutation_p.Q322R|PTGER3_uc001dfp.1_Missense_Mutation_p.Q322R|PTGER3_uc001dfq.2_Missense_Mutation_p.Q322R NM_198714 NP_942007 P43115 PE2R3_HUMAN prostaglandin E receptor 3, subtype EP3 isoform 322 Extracellular (Potential). cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity pancreas(1)|lung(1)|skin(1) 3 Bimatoprost(DB00905) GCATTCTTTCTGCTTCTCCGT 0.398 NA 26 33 0 0 0 0 ELTD1 64123 broad.mit.edu 37 1 79403499 79403499 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:79403499C>A uc001diq.3 - 6 909 c.753G>T c.(751-753)ACG>ACT p.T251T NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 251 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TACCTATATCCGTTGAATTTG 0.383 NA 34 75 2.2e-14 5.6e-14 1 0 PRKACB 5567 broad.mit.edu 37 1 84668432 84668432 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:84668432C>T uc001djj.2 + 8 973 c.709C>T c.(709-711)CCC>TCC p.P237S PRKACB_uc001djl.2_Missense_Mutation_p.P284S|PRKACB_uc010ort.1_Missense_Mutation_p.P244S|PRKACB_uc001djn.2_Missense_Mutation_p.P241S|PRKACB_uc010oru.1_Missense_Mutation_p.P225S|PRKACB_uc001djp.2_Missense_Mutation_p.P243S|PRKACB_uc001djq.2_Missense_Mutation_p.P207S|PRKACB_uc010orv.1_Missense_Mutation_p.P224S|PRKACB_uc001dji.2_Missense_Mutation_p.P237S|PRKACB_uc001djk.2_Missense_Mutation_p.P284S|PRKACB_uc009wcf.1_Missense_Mutation_p.P243S NM_002731 NP_002722 P22694 KAPCB_HUMAN cAMP-dependent protein kinase catalytic subunit 237 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding lung(2)|ovary(1) 3 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) AGCTGGCTATCCCCCATTCTT 0.373 NA 39 52 0 0 0 0 ABCA4 24 broad.mit.edu 37 1 94485286 94485286 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:94485286G>A uc001dqh.2 - 36 5152 c.5048C>T c.(5047-5049)GCC>GTC p.A1683V ABCA4_uc009wdp.1_5'Flank NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 1683 Extracellular. Missing (in STGD1; highly reduced ATP- binding capacity). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CACGCAGATGGCAACCACAGC 0.383 NA 7 21 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103440441 103440441 + Splice_Site SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:103440441T>A uc001dul.2 - 36 3073 c.2755_splice c.e36-1 p.G919_splice COL11A1_uc001duk.2_Splice_Site_p.G115_splice|COL11A1_uc001dum.2_Splice_Site_p.G931_splice|COL11A1_uc001dun.2_Splice_Site_p.G880_splice|COL11A1_uc009weh.2_Splice_Site_p.G803_splice NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTGAGGACCCTGGAAATAAAA 0.388 NA 23 28 0 0 0 0 COL11A1 1301 broad.mit.edu 37 1 103444277 103444277 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:103444277G>T uc001dul.2 - 35 3059 c.2741C>A c.(2740-2742)CCT>CAT p.P914H COL11A1_uc001duk.2_Missense_Mutation_p.P110H|COL11A1_uc001dum.2_Missense_Mutation_p.P926H|COL11A1_uc001dun.2_Missense_Mutation_p.P875H|COL11A1_uc009weh.2_Missense_Mutation_p.P798H NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 914 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTCACCTGGAGGGCCAGGAGG 0.378 NA 55 99 8.48e-36 2.43e-35 1 0 COL11A1 1301 broad.mit.edu 37 1 103461595 103461595 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:103461595G>A uc001dul.2 - 27 2563 c.2245C>T c.(2245-2247)CCC>TCC p.P749S COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.P761S|COL11A1_uc001dun.2_Missense_Mutation_p.P710S|COL11A1_uc009weh.2_Missense_Mutation_p.P633S NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 749 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GGACCAGGGGGACCCTGAAAT 0.363 NA 28 46 0 0 0 0 AMY2A 279 broad.mit.edu 37 1 104160135 104160135 + Missense_Mutation SNP C C T rs145483775 byFrequency TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:104160135C>T uc001dut.2 + 1 137 c.73C>T c.(73-75)CGG>TGG p.R25W AMY2A_uc010ouq.1_Missense_Mutation_p.R25W NM_000699 NP_000690 P04746 AMYP_HUMAN pancreatic amylase alpha 2A precursor 25 carbohydrate catabolic process|polysaccharide digestion extracellular space alpha-amylase activity|calcium ion binding|chloride ion binding ovary(1)|skin(1) 2 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085) ACAACAAGGACGGACATCTAT 0.443 NA 64 111 0 0 0 0 KCNA3 3738 broad.mit.edu 37 1 111216927 111216927 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:111216927T>C uc001dzv.1 - 1 729 c.505A>G c.(505-507)ATC>GTC p.I169V NM_002232 NP_002223 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related 169 voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(4)|pancreas(1) 5 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GGCCGGCGGATGCGGCCCCCG 0.632 NA 48 68 0 0 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144855862 144855862 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:144855862G>C uc001elw.3 - 41 6982 c.6691C>G c.(6691-6693)CAT>GAT p.H2231D NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.H2125D|PDE4DIP_uc001elv.3_Missense_Mutation_p.H1238D NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 2231 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CGAAGCTCATGAATACCTTTG 0.567 NA T PDGFRB MPD 4 52 0 0 0 0 OTUD7B 56957 broad.mit.edu 37 1 149916498 149916498 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:149916498C>T uc001etn.2 - 12 2146 c.1790G>A c.(1789-1791)AGC>AAC p.S597N NM_020205 NP_064590 Q6GQQ9 OTU7B_HUMAN zinc finger protein Cezanne 597 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) CCTCAGAATGCTCAGGCTCTG 0.557 NA 21 131 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152282723 152282723 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:152282723C>T uc001ezu.1 - 3 4675 c.4639G>A c.(4639-4641)GAG>AAG p.E1547K NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1547 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATTGTTCCTCATTTCTTGTT 0.587 NA Ichthyosis 168 237 0 0 0 0 LCE2B 26239 broad.mit.edu 37 1 152659536 152659536 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:152659536C>T uc001fai.2 + 2 271 c.217C>T c.(217-219)CTG>TTG p.L73L NM_014357 NP_055172 O14633 LCE2B_HUMAN late cornified envelope 2B 73 Cys-rich. keratinization ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGGCTGCTGCCTGAGCCACCA 0.662 NA 102 119 0 0 0 0 FCRL3 115352 broad.mit.edu 37 1 157665128 157665128 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:157665128T>C uc001frb.2 - 8 1694 c.1402A>G c.(1402-1404)AGG>GGG p.R468G FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.R468G|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.R194G|FCRL3_uc001frc.1_Missense_Mutation_p.R468G NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 468 Ig-like C2-type 5.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) CCTGTGACCCTGAGACTCACT 0.488 NA 4 194 0 0 0 0 SPTA1 6708 broad.mit.edu 37 1 158595968 158595968 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:158595968G>T uc001fst.1 - 42 6077 c.5878C>A c.(5878-5880)CTT>ATT p.L1960I NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1960 Spectrin 19. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) AAGTCACCAAGGTCTGCACCA 0.418 NA 16 29 3.57e-18 9.38e-18 1 0 SPTA1 6708 broad.mit.edu 37 1 158655028 158655028 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:158655028C>A uc001fst.1 - 2 333 c.134G>T c.(133-135)AGG>ATG p.R45M NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 45 Spectrin 1. R -> S (in EL2; Clichy).|R -> T (in EL2; Anastasia). actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) cttctgaccccTCTCAGCGAC 0.323 NA 42 53 3.43e-23 9.32e-23 1 0 OR6K2 81448 broad.mit.edu 37 1 158669657 158669657 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:158669657G>A uc001fsu.1 - 1 786 c.786C>T c.(784-786)CGC>CGT p.R262R NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 262 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) TGGCAGAGAAGCGTAGGTACA 0.478 NA 16 32 0 0 0 0 ATP1A2 477 broad.mit.edu 37 1 160097392 160097392 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:160097392C>T uc001fvc.2 + 8 931 c.799C>T c.(799-801)CGC>TGC p.R267C ATP1A2_uc001fvb.2_Missense_Mutation_p.R267C|ATP1A2_uc010piz.1_Missense_Mutation_p.R112C|ATP1A2_uc001fvd.2_Missense_Mutation_p.R3C|ATP1A2_uc009wtg.1_5'Flank NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 267 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GGTGATGGGCCGCATAGCTAC 0.592 NA 31 49 0 0 0 0 ILDR2 387597 broad.mit.edu 37 1 166927159 166927159 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:166927159G>T uc001gdx.1 - 2 282 c.226C>A c.(226-228)CGG>AGG p.R76R NM_199351 NP_955383 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 76 Ig-like V-type.|Extracellular (Potential). integral to membrane ovary(1) 1 GATTGGGCCCGGGTAGAGGAC 0.532 NA 39 71 7.05e-23 1.91e-22 1 0 SELE 6401 broad.mit.edu 37 1 169699747 169699747 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:169699747T>C uc001ggm.3 - 5 698 c.541A>G c.(541-543)ACA>GCA p.T181A C1orf112_uc001ggj.2_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN selectin E precursor 181 Sushi 1.|Extracellular (Potential). actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity ovary(3)|skin(2) 5 all_hematologic(923;0.208) TCCAGGGCTGTACAGTTCACA 0.433 NA 22 29 0 0 0 0 PAPPA2 60676 broad.mit.edu 37 1 176738746 176738746 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:176738746G>A uc001gkz.2 + 16 5491 c.4327G>A c.(4327-4329)GAA>AAA p.E1443K PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1443 Sushi 1. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 TTTCTAGAAGGAAATTCTGCT 0.453 NA 13 39 0 0 0 0 RNASEL 6041 broad.mit.edu 37 1 182551297 182551297 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:182551297G>T uc001gpj.1 - 3 1830 c.1663C>A c.(1663-1665)CCA>ACA p.P555T RNASEL_uc009wxz.1_Missense_Mutation_p.P555T|RNASEL_uc001gpk.2_Missense_Mutation_p.P555T|RNASEL_uc009wya.1_3'UTR NM_021133 NP_066956 Q05823 RN5A_HUMAN ribonuclease L 555 Protein kinase. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding ovary(4)|stomach(1) 5 tcctcatctggagaaagttga 0.408 NA Hereditary_Prostate_Cancer 47 110 4.67e-40 1.34e-39 1 0 INTS7 25896 broad.mit.edu 37 1 212180752 212180752 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:212180752G>A uc001hiw.1 - 6 701 c.596C>T c.(595-597)CCC>CTC p.P199L INTS7_uc009xdb.1_Missense_Mutation_p.P199L|INTS7_uc001hix.1_Missense_Mutation_p.P75L|INTS7_uc001hiy.1_Missense_Mutation_p.P199L|INTS7_uc010pta.1_Missense_Mutation_p.P150L NM_015434 NP_056249 Q9NVH2 INT7_HUMAN integrator complex subunit 7 199 snRNA processing integrator complex protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) CTGTAGAATGGGTATCAATTT 0.403 NA 6 26 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 216040469 216040469 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:216040469C>G uc001hku.1 - 44 9112 c.8725G>C c.(8725-8727)GGT>CGT p.G2909R NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2909 Extracellular (Potential).|Fibronectin type-III 15. 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) GGTGTAAAACCCACACTGTTG 0.398 NA HNSCC(13;0.011) 20 40 0 0 0 0 TTC13 79573 broad.mit.edu 37 1 231047215 231047215 + Splice_Site SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:231047215C>T uc001huf.3 - 20 2340 c.2309_splice c.e20+1 p.S770_splice TTC13_uc009xfi.2_Splice_Site_p.S717_splice|TTC13_uc009xfj.2_Splice_Site|TTC13_uc001hug.3_Splice_Site_p.S716_splice|TTC13_uc009xfk.1_Splice_Site_p.S659_splice NM_024525 NP_078801 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 isoform a binding ovary(1)|skin(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) ATATTACTTACCTGGATCCTC 0.313 NA 8 14 0 0 0 0 RYR2 6262 broad.mit.edu 37 1 237942010 237942010 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:237942010G>T uc001hyl.1 + 88 11940 c.11820G>T c.(11818-11820)CTG>CTT p.L3940L RYR2_uc010pya.1_Silent_p.L355L NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3940 Helical; Name=M1; (Potential). 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) ACAGCAGGCTGTGGGATGCTG 0.443 NA 27 43 3.58e-08 8.27e-08 1 0 VN1R5 317705 broad.mit.edu 37 1 247419676 247419676 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:247419676G>T uc010pyu.1 + 2 303 c.303G>T c.(301-303)TTG>TTT p.L101F NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN vomeronasal 1 receptor 5 101 Helical; Name=3; (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) AGGCAATATTGGTGTCCTTAG 0.423 NA 73 86 9.08e-34 2.59e-33 1 0 NLRP3 114548 broad.mit.edu 37 1 247599293 247599293 + Silent SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:247599293A>G uc001icr.2 + 8 2658 c.2520A>G c.(2518-2520)ACA>ACG p.T840T NLRP3_uc001ics.2_Intron|NLRP3_uc001icu.2_Silent_p.T840T|NLRP3_uc001icw.2_Silent_p.T783T|NLRP3_uc001icv.2_Intron|NLRP3_uc010pyw.1_Silent_p.T818T NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 840 LRR 4. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GCTGCCTCACATCAGCATGTT 0.537 NA 22 48 0 0 0 0 OR14C36 127066 broad.mit.edu 37 1 248512790 248512790 + Silent SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:248512790C>G uc010pzl.1 + 1 714 c.714C>G c.(712-714)ACC>ACG p.T238T NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, 238 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 CCTTTTCCACCTGCATCCCTC 0.522 NA 34 48 0 0 0 0 TUBB8 347688 broad.mit.edu 37 10 93792 93792 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:93792C>A uc001ifi.2 - 4 540 c.540G>T c.(538-540)GTG>GTT p.V180V TUBB8_uc009xhe.2_Silent_p.V143V|TUBB8_uc010pzs.1_Silent_p.V108V NM_177987 NP_817124 Q3ZCM7 TBB8_HUMAN tubulin, beta 8 isoform 1 180 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) TGTAGGGCTCCACCACGGTGT 0.517 NA 21 71 1.07e-11 2.63e-11 1 0 FAM171A1 221061 broad.mit.edu 37 10 15255068 15255068 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:15255068G>A uc001iob.2 - 8 2526 c.2519C>T c.(2518-2520)GCG>GTG p.A840V NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 840 Cytoplasmic (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 GGGGGCATCCGCAGTCCGTCT 0.617 NA 39 83 0 0 0 0 CUBN 8029 broad.mit.edu 37 10 16994277 16994277 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:16994277G>C uc001ioo.2 - 33 5019 c.4967C>G c.(4966-4968)CCA>CGA p.P1656R NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1656 CUB 11. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTACTTACATGGAGGTTGCGC 0.438 NA 21 36 0 0 0 0 CUBN 8029 broad.mit.edu 37 10 16996484 16996484 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:16996484C>A uc001ioo.2 - 32 4811 c.4759G>T c.(4759-4761)GCT>TCT p.A1587S NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1587 CUB 10. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATGGGGTTAGCCAGCTGCTCC 0.532 NA 29 43 4.6e-10 1.11e-09 1 0 CUBN 8029 broad.mit.edu 37 10 17165686 17165686 + Silent SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:17165686A>T uc001ioo.2 - 5 442 c.390T>A c.(388-390)ACT>ACA p.T130T NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 130 cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTTTGTCAACAGTCTGAAACA 0.443 NA 6 5 0 0 0 0 GPR158 57512 broad.mit.edu 37 10 25886754 25886754 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:25886754G>T uc001isj.2 + 11 2259 c.2199G>T c.(2197-2199)ATG>ATT p.M733I GPR158_uc001isk.2_Missense_Mutation_p.M108I NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 733 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 GAAAGAAGATGATCACAAACA 0.448 NA 34 68 3.66e-28 1.02e-27 1 0 ZNF37A 7587 broad.mit.edu 37 10 38407754 38407754 + Missense_Mutation SNP T T G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:38407754T>G uc001izk.2 + 8 2494 c.1675T>G c.(1675-1677)TAC>GAC p.Y559D ZNF37A_uc001izl.2_Missense_Mutation_p.Y559D|ZNF37A_uc001izm.2_Missense_Mutation_p.Y559D NM_001007094 NP_001007095 P17032 ZN37A_HUMAN zinc finger protein 37a 559 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1) 1 CGAGGGAAATTACTCTGGGTG 0.353 NA 3 7 0 0 0 0 RBP3 5949 broad.mit.edu 37 10 48388466 48388466 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:48388466C>A uc001jez.2 - 1 2526 c.2412G>T c.(2410-2412)GAG>GAT p.E804D NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 804 4 X approximate tandem repeats.|3. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) GCTGGCGGGGCTCTGCCTCAA 0.627 NA 8 8 0.00307968 0.00617843 1 0 JMJD1C 221037 broad.mit.edu 37 10 64944479 64944479 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:64944479T>A uc001jmn.2 - 21 7150 c.6850A>T c.(6850-6852)AGT>TGT p.S2284C JMJD1C_uc001jml.2_Missense_Mutation_p.S2047C|JMJD1C_uc001jmm.2_Missense_Mutation_p.S1996C|JMJD1C_uc010qiq.1_Missense_Mutation_p.S2102C|JMJD1C_uc009xpi.2_Missense_Mutation_p.S2102C|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_Missense_Mutation_p.S191C NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 2284 JmjC. blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) AATGGCAGACTTTTTAAAAGA 0.333 NA 16 26 0 0 0 0 C10orf35 219738 broad.mit.edu 37 10 71392595 71392595 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:71392595G>T uc001jpq.3 + 4 316 c.146G>T c.(145-147)CGC>CTC p.R49L NM_145306 NP_660349 Q96D05 CJ035_HUMAN hypothetical protein LOC219738 49 integral to membrane ovary(1)|skin(1) 2 CCTGGCCCCCGCCAGCAGCAG 0.602 NA 17 19 2e-07 4.53e-07 1 0 PCGF5 84333 broad.mit.edu 37 10 93011162 93011162 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:93011162C>G uc001khh.2 + 6 686 c.439C>G c.(439-441)CGA>GGA p.R147G PCGF5_uc010qnk.1_Missense_Mutation_p.R147G|PCGF5_uc001khi.2_Missense_Mutation_p.R147G NM_032373 NP_115749 Q86SE9 PCGF5_HUMAN polycomb group ring finger 5 147 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|PcG protein complex zinc ion binding lung(1) 1 AGATTGTTTACGAAATAATGG 0.343 NA 16 30 0 0 0 0 HPSE2 60495 broad.mit.edu 37 10 100401623 100401623 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:100401623T>A uc001kpn.1 - 7 1139 c.1079A>T c.(1078-1080)CAG>CTG p.Q360L HPSE2_uc009xwc.1_Missense_Mutation_p.Q350L|HPSE2_uc001kpo.1_Missense_Mutation_p.Q292L|HPSE2_uc009xwd.1_Missense_Mutation_p.Q238L NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN heparanase 2 360 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity ovary(1) 1 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) TTTCCTAATCTGGTCAGAGAG 0.428 NA 69 107 0 0 0 0 HPSE2 60495 broad.mit.edu 37 10 100481443 100481443 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:100481443C>A uc001kpn.1 - 5 987 c.927G>T c.(925-927)CCG>CCT p.P309P HPSE2_uc009xwc.1_Silent_p.P299P|HPSE2_uc001kpo.1_Silent_p.P241P|HPSE2_uc009xwd.1_Silent_p.P187P NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN heparanase 2 309 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity ovary(1) 1 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) CATTCTTCCTCGGCCGCCCAA 0.438 NA 14 31 0.000151284 0.000316915 1 0 SORCS3 22986 broad.mit.edu 37 10 107016579 107016579 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:107016579C>T uc001kyi.1 + 25 3567 c.3340C>T c.(3340-3342)CCA>TCA p.P1114S NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 1114 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) TTTCCAAGCTCCATTGGTGGA 0.458 NA 16 10 0 0 0 0 SORCS1 114815 broad.mit.edu 37 10 108923992 108923992 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:108923992G>T uc001kym.2 - 1 301 c.293C>A c.(292-294)TCC>TAC p.S98Y SORCS1_uc001kyl.2_Missense_Mutation_p.S98Y|SORCS1_uc009xxs.2_Missense_Mutation_p.S98Y|SORCS1_uc001kyn.1_Missense_Mutation_p.S98Y|SORCS1_uc001kyo.2_Missense_Mutation_p.S98Y NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 98 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AACCGCCATGGATGCCCCAGT 0.726 NA 10 18 1.77e-08 4.1e-08 1 0 EMX2 2018 broad.mit.edu 37 10 119305325 119305325 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:119305325C>G uc001ldh.3 + 2 1412 c.589C>G c.(589-591)CAG>GAG p.Q197E EMX2OS_uc001ldg.2_5'Flank|EMX2_uc001ldi.3_Intron NM_004098 NP_004089 Q04743 EMX2_HUMAN empty spiracles homeobox 2 isoform 1 197 Homeobox. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22) all cancers(201;0.0133) CACGGAAACTCAGGTGACTGC 0.632 NA 5 17 0 0 0 0 MKI67 4288 broad.mit.edu 37 10 129913444 129913444 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:129913444C>T uc001lke.2 - 7 1423 c.1228G>A c.(1228-1230)GAC>AAC p.D410N MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 410 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) GTGGCAGAGTCAGCTGCATCT 0.438 NA 32 58 0 0 0 0 MGMT 4255 broad.mit.edu 37 10 131557583 131557583 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:131557583G>C uc001lkh.2 + 4 511 c.485G>C c.(484-486)GGA>GCA p.G162A NM_002412 NP_002403 P16455 MGMT_HUMAN O-6-methylguanine-DNA methyltransferase 131 ovary(1)|breast(1) 2 all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167) OV - Ovarian serous cystadenocarcinoma(35;0.00291) CGAGCAGTGGGAGGAGCAATG 0.562 NA Direct_reversal_of_damage 23 40 0 0 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135106020 135106020 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:135106020G>A uc001lmg.1 - 8 1554 c.1197C>T c.(1195-1197)ATC>ATT p.I399I TUBGCP2_uc001lmf.1_5'Flank|TUBGCP2_uc010qvc.1_Silent_p.I427I|TUBGCP2_uc009ybk.1_Silent_p.I399I|TUBGCP2_uc010qvd.1_Silent_p.I269I|TUBGCP2_uc001lmh.1_RNA NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN tubulin, gamma complex associated protein 2 399 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) GGTCGTGGATGATGCCCCTGT 0.438 NA 8 19 0 0 0 0 FRG2B 441581 broad.mit.edu 37 10 135440184 135440184 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr10:135440184C>A uc010qvg.1 - 1 116 c.63G>T c.(61-63)CAG>CAT p.Q21H NM_001080998 NP_001074467 Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 21 nucleus 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) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) GGAAAGGGGGCTGGTCAGTGG 0.507 NA 15 170 5.04e-11 1.23e-10 1 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629194 1629195 + Missense_Mutation DNP CA CA AG TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:1629194_1629195CA>AG uc001ltw.1 - 1 499_500 c.421_422TG>CT c.(421-423)TGT>CTT p.C141L NM_001012708 NP_001012726 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 141 11 X 4 AA repeats of C-C-X-P. 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) GGATGACCCACAGCCTGAGGAG 0.53 NA 97 150 0 0 0 0 TRIM68 55128 broad.mit.edu 37 11 4621792 4621792 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:4621792T>C uc001lzf.1 - 7 1410 c.1172A>G c.(1171-1173)TAT>TGT p.Y391C TRIM68_uc001lzg.1_Missense_Mutation_p.Y168C|TRIM68_uc010qyj.1_RNA NM_018073 NP_060543 Q6AZZ1 TRI68_HUMAN ring finger protein 137 391 B30.2/SPRY. protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) CCAGAATCCATAGTGGGGGGA 0.572 NA 18 35 0 0 0 0 TRIM22 10346 broad.mit.edu 37 11 5730671 5730671 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:5730671G>A uc001mbr.2 + 8 1567 c.1290G>A c.(1288-1290)AAG>AAA p.K430K TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|TRIM22_uc009yes.2_Silent_p.K426K|TRIM22_uc010qzm.1_Silent_p.K258K|TRIM22_uc009yeu.2_Silent_p.K241K|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron NM_006074 NP_006065 Q8IYM9 TRI22_HUMAN tripartite motif-containing 22 430 B30.2/SPRY. immune response|interspecies interaction between organisms|protein trimerization|response to virus Cajal body|Golgi apparatus|nuclear speck ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding 0 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14) CTGATCCCAAGGTTTTGACTC 0.423 NA 44 80 0 0 0 0 OR52E4 390081 broad.mit.edu 37 11 5905604 5905604 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:5905604T>A uc010qzs.1 + 1 82 c.82T>A c.(82-84)TGG>AGG p.W28R TRIM5_uc001mbq.1_Intron NM_001005165 NP_001005165 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, 28 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTTACATATCTGGATTTCTTT 0.443 NA 80 117 0 0 0 0 NLRP14 338323 broad.mit.edu 37 11 7068026 7068026 + Nonsense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:7068026G>T uc001mfb.1 + 5 2409 c.2086G>T c.(2086-2088)GAA>TAA p.E696* NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 696 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) CCTGCATCATGAACTAAGGCA 0.373 NA 36 59 1.36e-19 3.61e-19 1 0 INSC 387755 broad.mit.edu 37 11 15260557 15260557 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:15260557G>C uc001mly.2 + 11 1517 c.1471G>C c.(1471-1473)GCA>CCA p.A491P INSC_uc001mlz.2_Missense_Mutation_p.A444P|INSC_uc001mma.2_Missense_Mutation_p.A444P|INSC_uc010rcs.1_Missense_Mutation_p.A479P|INSC_uc001mmb.2_Missense_Mutation_p.A444P|INSC_uc001mmc.2_Missense_Mutation_p.A402P NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 491 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 GCAGAAAGCTGCAGTGACCCT 0.607 NA 14 27 0 0 0 0 DBX1 120237 broad.mit.edu 37 11 20178181 20178181 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:20178181G>A uc001mpw.1 - 4 728 c.728C>T c.(727-729)TCC>TTC p.S243F NM_001029865 NP_001025036 A6NMT0 DBX1_HUMAN developing brain homeobox 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GGCTCCGGGGGACGCACGGGG 0.627 NA 24 43 0 0 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137513 40137513 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:40137513G>T uc001mxa.1 - 2 2294 c.330C>A c.(328-330)AAC>AAA p.N110K LRRC4C_uc001mxc.1_Missense_Mutation_p.N106K|LRRC4C_uc001mxd.1_Missense_Mutation_p.N106K|LRRC4C_uc001mxb.1_Missense_Mutation_p.N106K NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN netrin-G1 ligand precursor 110 LRR 2. regulation of axonogenesis integral to membrane protein binding ovary(4)|skin(3)|central_nervous_system(1) 8 all_lung(304;0.0575)|Lung NSC(402;0.138) TTCTGATATGGTTCCTACTCA 0.453 NA 24 27 1.98e-07 4.49e-07 1 0 OR4A5 81318 broad.mit.edu 37 11 51411675 51411675 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:51411675T>A uc001nhi.1 - 1 721 c.721A>T c.(721-723)AGT>TGT p.S241C NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 241 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) ACAACGGTACTGCCGGAGCTG 0.398 NA 18 25 0 0 0 0 OR5L1 219437 broad.mit.edu 37 11 55579555 55579555 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:55579555T>A uc001nhw.1 + 1 613 c.613T>A c.(613-615)TTG>ATG p.L205M NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 205 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) GGTGGCCACTTTGAATGAGAG 0.463 NA 48 101 0 0 0 0 OR8K5 219453 broad.mit.edu 37 11 55927296 55927296 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:55927296C>A uc010rja.1 - 1 498 c.498G>T c.(496-498)TTG>TTT p.L166F NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 166 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) CACAGAAGGTCAATGTAAAAA 0.383 NA 21 55 2.28e-05 4.88e-05 1 0 OR8K5 219453 broad.mit.edu 37 11 55927362 55927362 + Silent SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:55927362C>G uc010rja.1 - 1 432 c.432G>C c.(430-432)CTG>CTC p.L144L NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, 144 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) GAATGCCCACCAGTACATGAC 0.403 NA 32 71 0 0 0 0 OR8K3 219473 broad.mit.edu 37 11 56086244 56086244 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:56086244C>A uc010rjf.1 + 1 462 c.462C>A c.(460-462)TTC>TTA p.F154L NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, 154 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) ATTGCACATTCATTTCTCTTC 0.418 NA 45 64 7.05e-23 1.91e-22 1 0 OR9G4 283189 broad.mit.edu 37 11 56511027 56511027 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:56511027C>A uc010rjo.1 - 1 261 c.261G>T c.(259-261)TGG>TGT p.W87C NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, 87 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 CAGAGGTATACCAGAAATCCA 0.433 NA 34 63 6.91e-12 1.71e-11 1 0 ZFP91 80829 broad.mit.edu 37 11 58384258 58384258 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:58384258G>A uc001nmx.3 + 10 1340 c.1172G>A c.(1171-1173)CGG>CAG p.R391Q ZFP91_uc001nmy.3_Missense_Mutation_p.R390Q|ZFP91-CNTF_uc010rkm.1_RNA NM_053023 NP_444251 Q96JP5 ZFP91_HUMAN zinc finger protein 91 391 C2H2-type 3. activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) GCAGTGCACCGGATGATTCAC 0.428 NA 13 47 0 0 0 0 GLYAT 10249 broad.mit.edu 37 11 58491896 58491896 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:58491896G>A uc001nnb.2 - 2 229 c.74C>T c.(73-75)TCC>TTC p.S25F GLYAT_uc001nnc.2_Missense_Mutation_p.S25F NM_201648 NP_964011 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase isoform a 25 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity 0 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) CACCTTTAAGGATGCTGGGAG 0.398 NA 50 82 0 0 0 0 TCN1 6947 broad.mit.edu 37 11 59622199 59622199 + Silent SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:59622199A>G uc001noj.2 - 7 1145 c.1047T>C c.(1045-1047)AAT>AAC p.N349N NM_001062 NP_001053 P20061 TCO1_HUMAN transcobalamin I precursor 349 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding ovary(2) 2 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GCACAGTGACATTGGTGAAAT 0.403 NA 36 59 0 0 0 0 MS4A14 84689 broad.mit.edu 37 11 60183525 60183525 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:60183525T>A uc001npj.2 + 5 1649 c.1084T>A c.(1084-1086)TCC>ACC p.S362T MS4A14_uc001npi.2_Missense_Mutation_p.S250T|MS4A14_uc001npn.2_Missense_Mutation_p.S100T|MS4A14_uc001npk.2_Missense_Mutation_p.S345T|MS4A14_uc001npl.2_Missense_Mutation_p.S100T|MS4A14_uc001npm.2_Missense_Mutation_p.S100T NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 362 integral to membrane receptor activity breast(1) 1 AGGcatactatcccaagacac 0.219 NA 14 14 0 0 0 0 ASRGL1 80150 broad.mit.edu 37 11 62124564 62124564 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:62124564C>T uc001nte.3 + 4 723 c.439C>T c.(439-441)CGC>TGC p.R147C ASRGL1_uc001ntf.3_Missense_Mutation_p.R147C|ASRGL1_uc001ntg.3_Missense_Mutation_p.R19C|ASRGL1_uc001nth.1_RNA NM_025080 NP_079356 Q7L266 ASGL1_HUMAN asparaginase-like 1 147 asparagine catabolic process via L-aspartate|protein maturation cytoplasm|microtubule cytoskeleton|nucleus N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity 0 L-Asparagine(DB00174)|L-Aspartic Acid(DB00128) AAACAAAAAGCGCCTGGAAAA 0.433 NA 17 28 0 0 0 0 SF1 7536 broad.mit.edu 37 11 64536570 64536570 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:64536570G>T uc001obb.1 - 8 1188 c.811C>A c.(811-813)CGC>AGC p.R271S SF1_uc010rnm.1_5'UTR|SF1_uc010rnn.1_Missense_Mutation_p.R245S|SF1_uc001oaz.1_Missense_Mutation_p.R396S|SF1_uc001oba.1_Missense_Mutation_p.R271S|SF1_uc001obc.1_Missense_Mutation_p.R271S|SF1_uc001obd.1_Missense_Mutation_p.R271S|SF1_uc001obe.1_Missense_Mutation_p.R156S|SF1_uc010rno.1_Missense_Mutation_p.R156S NM_004630 NP_004621 Q15637 SF01_HUMAN splicing factor 1 isoform 1 271 nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding ovary(1)|breast(1)|skin(1) 3 GTAATGCTGCGGGTCTCTGAG 0.488 NA 5 212 0.00198382 0.00400472 1 0 EFEMP2 30008 broad.mit.edu 37 11 65637634 65637634 + Missense_Mutation SNP C C T rs148940436 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:65637634C>T uc001ofy.3 - 6 759 c.565G>A c.(565-567)GAG>AAG p.E189K EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.E189K NM_016938 NP_058634 O95967 FBLN4_HUMAN EGF-containing fibulin-like extracellular matrix 189 EGF-like 3; calcium-binding (Potential). blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(159;0.169) AAGCCCGGCTCGCACTGGCAG 0.667 NA 22 31 0 0 0 0 RBM4 5936 broad.mit.edu 37 11 66407340 66407340 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:66407340G>A uc009yrj.2 + 2 646 c.158G>A c.(157-159)CGC>CAC p.R53H RBM4_uc009yrk.2_Intron|RBM4_uc001oiv.2_Missense_Mutation_p.R53H|RBM4_uc001oiw.1_Missense_Mutation_p.R53H|RBM4_uc001oix.1_Missense_Mutation_p.R53H|RBM4_uc010rpj.1_Missense_Mutation_p.R53H|RBM4_uc001oiy.1_Missense_Mutation_p.R53H|RBM4_uc001oiz.1_Missense_Mutation_p.R53H NM_002896 NP_002887 Q9BWF3 RBM4_HUMAN RNA binding motif protein 4 53 RRM 1. circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade nuclear speck|nucleolus|stress granule miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding ovary(1) 1 Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266) GATGCCATACGCAACCTGCAC 0.468 NA 58 116 0 0 0 0 ANO1 55107 broad.mit.edu 37 11 70033950 70033950 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:70033950T>A uc001opj.2 + 26 3106 c.2801T>A c.(2800-2802)TTC>TAC p.F934Y ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.F643Y|ANO1_uc010rql.1_Missense_Mutation_p.F108Y NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 934 Cytoplasmic (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 GTGGAGCTGTTCATGCGGGAG 0.577 NA 6 4 0 0 0 0 MYO7A 4647 broad.mit.edu 37 11 76870542 76870542 + Silent SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:76870542G>C uc001oyb.2 + 10 1325 c.1053G>C c.(1051-1053)TCG>TCC p.S351S MYO7A_uc010rsl.1_Silent_p.S351S|MYO7A_uc010rsm.1_Silent_p.S340S|MYO7A_uc001oyc.2_Silent_p.S351S NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 351 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 TCTCCCCATCGCTGGCCACAG 0.587 NA 33 42 0 0 0 0 SLC36A4 120103 broad.mit.edu 37 11 92895879 92895879 + Missense_Mutation SNP C C A rs76610702 byFrequency TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:92895879C>A uc001pdn.2 - 9 1127 c.1030G>T c.(1030-1032)GAT>TAT p.D344Y SLC36A4_uc001pdm.2_Missense_Mutation_p.D209Y NM_152313 NP_689526 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid 344 L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity ovary(2)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TACCATACATCTTGGGGAAGA 0.303 NA 21 23 2.46e-09 5.84e-09 1 0 KIAA1377 57562 broad.mit.edu 37 11 101832914 101832914 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:101832914G>T uc001pgm.2 + 6 1418 c.1148G>T c.(1147-1149)TGT>TTT p.C383F KIAA1377_uc001pgn.2_Missense_Mutation_p.C339F|KIAA1377_uc010run.1_Missense_Mutation_p.C184F|KIAA1377_uc009yxa.1_Missense_Mutation_p.C184F NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 383 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) GATAAAAAATGTGAAAAGACC 0.398 NA 15 29 0.000308642 0.000638298 1 0 GRIA4 2893 broad.mit.edu 37 11 105795455 105795455 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:105795455C>T uc001pix.2 + 12 2253 c.1807C>T c.(1807-1809)CTG>TTG p.L603L GRIA4_uc001piw.2_Silent_p.L603L NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 603 Cytoplasmic (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) CTGGTTTTCCCTGGGTGCTTT 0.463 NA 25 29 0 0 0 0 ZW10 9183 broad.mit.edu 37 11 113614600 113614600 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:113614600T>C uc001poe.2 - 10 1472 c.1435A>G c.(1435-1437)ATC>GTC p.I479V ZW10_uc009yyv.2_RNA NM_004724 NP_004715 O43264 ZW10_HUMAN centromere/kinetochore protein zw10 479 cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) GACTCACTGATACGGCATGTG 0.413 NA 30 56 0 0 0 0 ZBTB16 7704 broad.mit.edu 37 11 114027108 114027108 + Silent SNP C C A rs141621748 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:114027108C>A uc001pop.2 + 3 1582 c.1318C>A c.(1318-1320)CGG>AGG p.R440R ZBTB16_uc001poo.1_Silent_p.R440R|ZBTB16_uc001poq.2_Silent_p.R440R NM_006006 NP_005997 Q05516 ZBT16_HUMAN promyelocytic leukemia zinc finger protein 440 C2H2-type 2. 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) CTGCGGGAAGCGGTTCCTGGA 0.552 NA 18 47 0.000958276 0.00196093 1 0 PCSK7 9159 broad.mit.edu 37 11 117093951 117093951 + Missense_Mutation SNP A A C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:117093951A>C uc001pqr.2 - 9 1329 c.1128T>G c.(1126-1128)AGT>AGG p.S376R NM_004716 NP_004707 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 376 Catalytic.|Extracellular (Potential). peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity 0 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) TGTCCCCACCACTGAAGGTGA 0.577 NA T IGH@ MLCLS 42 57 0 0 0 0 TECTA 7007 broad.mit.edu 37 11 121032985 121032985 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:121032985G>T uc010rzo.1 + 15 5178 c.5178G>T c.(5176-5178)AAG>AAT p.K1726N NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1726 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) ACAGCCACAAGAAGTTCCAGC 0.592 NA 21 37 1.01e-13 2.55e-13 1 0 OR8B12 219858 broad.mit.edu 37 11 124413188 124413188 + Silent SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:124413188G>C uc010sam.1 - 1 363 c.363C>G c.(361-363)CGC>CGG p.R121R NM_001005195 NP_001005195 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, 121 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) TGGCCACGTAGCGGTCATACG 0.507 NA 23 49 0 0 0 0 KIRREL3 84623 broad.mit.edu 37 11 126343309 126343309 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:126343309C>T uc001qea.2 - 5 847 c.486G>A c.(484-486)GCG>GCA p.A162A KIRREL3_uc001qeb.2_Silent_p.A162A|KIRREL3_uc001qec.1_Silent_p.A162A NM_032531 NP_115920 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 isoform 1 162 Ig-like C2-type 2.|Extracellular (Potential). hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding ovary(3) 3 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) GAGGGTCCCCCGCACGCAGGC 0.647 NA 6 7 0 0 0 0 ETS1 2113 broad.mit.edu 37 11 128360449 128360449 + Silent SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:128360449T>A uc010sbs.1 - 2 421 c.105A>T c.(103-105)CCA>CCT p.P35P ETS1_uc001qej.2_Silent_p.P79P|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Silent_p.P35P NM_005238 NP_005229 P14921 ETS1_HUMAN v-ets erythroblastosis virus E26 oncogene 35 cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding lung(4)|central_nervous_system(1)|pleura(1) 6 all_hematologic(175;0.0537) Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833) GAGTTAATAGTGGGACATCTG 0.358 NA 15 17 0 0 0 0 FLI1 2313 broad.mit.edu 37 11 128628193 128628193 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr11:128628193C>T uc010sbu.1 + 2 543 c.202C>T c.(202-204)CGG>TGG p.R68W FLI1_uc010sbt.1_5'UTR|FLI1_uc010sbv.1_Missense_Mutation_p.R35W|FLI1_uc009zci.2_5'UTR|FLI1_uc001qen.2_Missense_Mutation_p.R35W NM_002017 NP_002008 Q01543 FLI1_HUMAN Friend leukemia virus integration 1 68 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R68W(1) EWSR1/FLI1(2266) bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2) 2273 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) CAACGTCAAGCGGGAGTATGA 0.587 NA T EWSR1 Ewing sarcoma 8 17 0 0 0 0 PARP11 57097 broad.mit.edu 37 12 3939117 3939117 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:3939117G>T uc001qmk.1 - 1 120 c.65C>A c.(64-66)ACG>AAG p.T22K PARP11_uc001qml.2_Missense_Mutation_p.T29K|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_5'UTR|PARP11_uc001qmn.2_5'UTR NM_020367 NP_065100 Q9NR21 PAR11_HUMAN poly (ADP-ribose) polymerase family, member 11 22 WWE. NAD+ ADP-ribosyltransferase activity ovary(1)|central_nervous_system(1) 2 all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264) GGTATCTGACGTGTCCATGTC 0.413 NA 54 93 3.07e-29 8.61e-29 1 0 NTF3 4908 broad.mit.edu 37 12 5604005 5604005 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:5604005G>T uc001qnl.3 + 1 708 c.625G>T c.(625-627)GAT>TAT p.D209Y NTF3_uc001qnk.3_Missense_Mutation_p.D222Y NM_002527 NP_002518 P20783 NTF3_HUMAN neurotrophin 3 isoform 2 preproprotein 209 signal transduction extracellular region growth factor activity|neurotrophin receptor binding pancreas(1) 1 CAGGGGTATTGATGATAAACA 0.488 NA 99 46 2.31e-40 6.67e-40 1 0 TAS2R13 50838 broad.mit.edu 37 12 11061579 11061579 + Missense_Mutation SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:11061579A>G uc001qzg.1 - 1 583 c.319T>C c.(319-321)TAT>CAT p.Y107H PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron NM_023920 NP_076409 Q9NYV9 T2R13_HUMAN taste receptor, type 2, member 13 107 Cytoplasmic (Potential). sensory perception of taste integral to membrane taste receptor activity breast(1)|skin(1) 2 TTGAGCAAATAAAAGATGCTG 0.368 NA 77 33 0 0 0 0 KIAA1467 57613 broad.mit.edu 37 12 13224192 13224192 + Silent SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:13224192T>A uc001rbi.2 + 10 1409 c.1386T>A c.(1384-1386)GGT>GGA p.G462G KIAA1467_uc009zhx.1_RNA NM_020853 NP_065904 A2RU67 K1467_HUMAN hypothetical protein LOC57613 462 integral to membrane central_nervous_system(2)|skin(1) 3 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) TTGTGGATGGTGACTCTGGCT 0.478 NA 90 247 0 0 0 0 ART4 420 broad.mit.edu 37 12 14996007 14996007 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:14996007G>T uc001rcl.1 - 1 407 c.41C>A c.(40-42)CCA>CAA p.P14Q ART4_uc009zid.1_RNA|ART4_uc009zie.1_RNA|ART4_uc001rcm.1_Missense_Mutation_p.P14Q NM_021071 NP_066549 Q93070 NAR4_HUMAN ADP-ribosyltransferase 4 precursor 14 arginine metabolic process|protein ADP-ribosylation anchored to membrane|plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity 0 TACAGTAGTTGGGAGAAGAAT 0.507 NA 74 51 2.11e-32 5.97e-32 1 0 PIK3C2G 5288 broad.mit.edu 37 12 18658284 18658284 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:18658284G>T uc001rdt.2 + 23 3205 c.3089G>T c.(3088-3090)GGA>GTA p.G1030V PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.G1071V|PIK3C2G_uc010sic.1_Missense_Mutation_p.G849V NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 1030 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) TTCATCCTGGGAGTATGTGAC 0.383 NA 22 16 4.35e-09 1.03e-08 1 0 ITPR2 3709 broad.mit.edu 37 12 26580957 26580957 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:26580957C>A uc001rhg.2 - 49 7251 c.6834G>T c.(6832-6834)CTG>CTT p.L2278L ITPR2_uc009zjg.1_Silent_p.L429L NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 2278 Helical; (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) AGAAGAAAAACAGCATAGATG 0.383 NA 18 66 4.35e-09 1.03e-08 1 0 ZNF641 121274 broad.mit.edu 37 12 48738456 48738456 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:48738456T>C uc001rrn.1 - 5 653 c.488A>G c.(487-489)GAA>GGA p.E163G ZNF641_uc001rro.1_Missense_Mutation_p.E149G|ZNF641_uc010sls.1_Missense_Mutation_p.E140G NM_152320 NP_689533 Q96N77 ZN641_HUMAN zinc finger protein 641 163 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 TTCTCCTCCTTCTAGTTGAGA 0.438 NA 68 13 0 0 0 0 ESPL1 9700 broad.mit.edu 37 12 53683319 53683319 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:53683319G>T uc001sck.2 + 22 5145 c.5054G>T c.(5053-5055)GGC>GTC p.G1685V ESPL1_uc001scj.2_Missense_Mutation_p.G1360V NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 1685 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 TTGGAATCTGGCCACTTCCCC 0.612 NA 51 14 5.57e-27 1.55e-26 1 0 SLC16A7 9194 broad.mit.edu 37 12 60168919 60168919 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:60168919G>T uc001sqs.2 + 5 1142 c.843G>T c.(841-843)TCG>TCT p.S281S SLC16A7_uc001sqt.2_Silent_p.S281S|SLC16A7_uc001squ.2_Silent_p.S281S|SLC16A7_uc009zqi.2_Silent_p.S182S|SLC16A7_uc010ssi.1_Silent_p.S182S NM_004731 NP_004722 O60669 MOT2_HUMAN solute carrier family 16, member 7 281 Extracellular (Potential). integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity ovary(1) 1 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) ATGAGTACTCGGCAGCTTTTC 0.383 NA 78 16 9.63e-24 2.63e-23 1 0 SRGAP1 57522 broad.mit.edu 37 12 64472740 64472740 + Silent SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:64472740T>C uc010ssp.1 + 9 1223 c.1167T>C c.(1165-1167)GAT>GAC p.D389D SRGAP1_uc001srt.2_Silent_p.D389D|SRGAP1_uc001srv.2_Silent_p.D349D NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 389 Potential. axon guidance cytosol ovary(2)|central_nervous_system(2) 4 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CGATACAAGATATGGTCACCA 0.378 NA 39 12 0 0 0 0 TMTC3 160418 broad.mit.edu 37 12 88588735 88588735 + Missense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:88588735A>T uc001tau.2 + 14 2274 c.2054A>T c.(2053-2055)AAT>ATT p.N685I NM_181783 NP_861448 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat 686 TPR 7. integral to membrane binding skin(1) 1 AAAAAGGACAATGAAGCAGAG 0.398 NA 35 13 0 0 0 0 DTX1 1840 broad.mit.edu 37 12 113515335 113515335 + Missense_Mutation SNP T T G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr12:113515335T>G uc001tuk.1 + 2 702 c.366T>G c.(364-366)GAT>GAG p.D122E NM_004416 NP_004407 Q86Y01 DTX1_HUMAN deltex homolog 1 122 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 CGGCCTACGATATGGACATCT 0.622 NA 8 56 0 0 0 0 MTUS2 23281 broad.mit.edu 37 13 29898764 29898764 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr13:29898764G>T uc001usl.3 + 5 2909 c.2851G>T c.(2851-2853)GCT>TCT p.A951S NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 941 Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity p.A951T(1) 0 AAAGAAAGATGCTCAGAAAGA 0.378 NA 6 0 2.01e-06 4.43e-06 1 0 RB1 5925 broad.mit.edu 37 13 48881512 48881512 + Nonsense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr13:48881512G>A uc001vcb.2 + 2 400 c.234G>A c.(232-234)TGG>TGA p.W78* RB1_uc010acs.1_Intron NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 78 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(13)|p.?(3)|p.W78*(1) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGTTAACTTGGGAGAAAGTTT 0.284 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 50 15 0 0 0 0 CAB39L 81617 broad.mit.edu 37 13 49957001 49957001 + Nonsense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr13:49957001C>A uc001vcw.2 - 2 544 c.46G>T c.(46-48)GAA>TAA p.E16* CAB39L_uc001vcx.2_Nonsense_Mutation_p.E16*|CAB39L_uc010adf.2_Nonsense_Mutation_p.E13* NM_030925 NP_112187 Q9H9S4 CB39L_HUMAN calcium binding protein 39-like 16 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol protein binding 0 Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226) TTCACAATTTCTGCTGGATTT 0.308 NA 60 21 6.2e-27 1.72e-26 1 0 ATP7B 540 broad.mit.edu 37 13 52542619 52542619 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr13:52542619C>T uc001vfw.2 - 4 1825 c.1668G>A c.(1666-1668)ATG>ATA p.M556I ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.M556I|ATP7B_uc001vfy.2_Missense_Mutation_p.M445I|ATP7B_uc010tgt.1_Missense_Mutation_p.M556I|ATP7B_uc010tgu.1_Missense_Mutation_p.M556I|ATP7B_uc010tgv.1_Missense_Mutation_p.M556I|ATP7B_uc010tgw.1_Intron NM_000053 NP_000044 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 556 Cytoplasmic (Potential). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CGTAGTCCTCCATGACTGCTG 0.522 NA Wilson_disease 29 6 0 0 0 0 KLHL1 57626 broad.mit.edu 37 13 70281880 70281880 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr13:70281880C>A uc001vip.2 - 10 2858 c.2064G>T c.(2062-2064)ATG>ATT p.M688I KLHL1_uc010thm.1_Missense_Mutation_p.M627I NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 688 Kelch 5. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CATCTCTGGGCATACTCAAAG 0.408 NA 29 6 3.58e-08 8.27e-08 1 0 DOCK9 23348 broad.mit.edu 37 13 99540717 99540717 + Missense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr13:99540717A>T uc001vnt.2 - 17 1932 c.1877T>A c.(1876-1878)GTG>GAG p.V626E DOCK9_uc001vnw.2_Missense_Mutation_p.V625E|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.V626E|DOCK9_uc010tis.1_Missense_Mutation_p.V625E|DOCK9_uc010tit.1_Missense_Mutation_p.V626E|DOCK9_uc010afu.1_Missense_Mutation_p.V441E NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 626 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TATGCAGGGCACAAATTCCTC 0.383 NA 107 37 0 0 0 0 NALCN 259232 broad.mit.edu 37 13 102047697 102047697 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr13:102047697C>A uc001vox.1 - 3 317 c.128G>T c.(127-129)CGC>CTC p.R43L NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.R43L|NALCN_uc001vpa.2_Missense_Mutation_p.R43L NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 43 Helical; Name=S1 of repeat I; (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GGCACAGATGCGCAGCAAAGA 0.433 NA 39 11 2.36e-20 6.29e-20 1 0 OR4K5 79317 broad.mit.edu 37 14 20389063 20389063 + Nonsense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr14:20389063C>T uc010tkw.1 + 1 298 c.298C>T c.(298-300)CAA>TAA p.Q100* NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 100 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGCATAGCCCAAATTTTCTT 0.413 NA 76 44 0 0 0 0 LTB4R 1241 broad.mit.edu 37 14 24785367 24785367 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr14:24785367G>T uc001wos.2 + 2 831 c.510G>T c.(508-510)CCG>CCT p.P170P LTB4R_uc010alp.2_Silent_p.P170P|LTB4R_uc001wou.2_Silent_p.P170P NM_001143919 NP_001137391 Q15722 LT4R1_HUMAN leukotriene B4 receptor 170 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding 0 GBM - Glioblastoma multiforme(265;0.018) TGTGCTTCCCGCGGTACCCCA 0.622 NA 39 25 4.05e-12 1.01e-11 1 0 PRKD1 5587 broad.mit.edu 37 14 30046533 30046533 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr14:30046533G>T uc001wqh.2 - 18 2831 c.2650C>A c.(2650-2652)CTG>ATG p.L884M NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 884 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) GGATTGATCAGGTGTGTGGGG 0.537 NA 48 19 7.05e-20 1.88e-19 1 0 RALGAPA1 253959 broad.mit.edu 37 14 36217955 36217955 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr14:36217955G>T uc001wti.2 - 10 1478 c.1087C>A c.(1087-1089)CCC>ACC p.P363T RALGAPA1_uc001wtj.2_Missense_Mutation_p.P363T|RALGAPA1_uc010tpv.1_Missense_Mutation_p.P363T|RALGAPA1_uc010tpw.1_Missense_Mutation_p.P363T|RALGAPA1_uc001wtk.1_Missense_Mutation_p.P214T NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 363 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 GACTGTTCGGGTTCTGTAGTT 0.363 NA 13 13 2.23e-06 4.91e-06 1 0 ERO1L 30001 broad.mit.edu 37 14 53130549 53130549 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr14:53130549T>C uc001wzv.2 - 8 872 c.646A>G c.(646-648)AGA>GGA p.R216G ERO1L_uc001wzw.2_RNA|ERO1L_uc010aof.2_RNA NM_014584 NP_055399 Q96HE7 ERO1A_HUMAN ERO1-like precursor 216 chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor 0 Breast(41;0.226) TTTAAAGGTCTTTTAATTGTC 0.318 NA 2 14 0 0 0 0 GPHN 10243 broad.mit.edu 37 14 67389587 67389587 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr14:67389587G>C uc001xiy.2 + 7 1782 c.661G>C c.(661-663)GAC>CAC p.D221H GPHN_uc001xiw.2_Missense_Mutation_p.D203H|GPHN_uc001xix.2_Missense_Mutation_p.D221H|GPHN_uc010tss.1_Missense_Mutation_p.D234H|GPHN_uc010tst.1_Missense_Mutation_p.D190H|GPHN_uc010tsu.1_Missense_Mutation_p.D111H NM_001024218 NP_001019389 Q9NQX3 GEPH_HUMAN gephyrin isoform 2 221 Interaction with GABARAP (By similarity). Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity ovary(2) 2 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) AGAGAAGAAAGACAGTGGTGT 0.483 NA T MLL AL 38 28 0 0 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72054795 72054795 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr14:72054795C>T uc001xms.2 + 2 554 c.206C>T c.(205-207)CCC>CTC p.P69L SIPA1L1_uc001xmt.2_Missense_Mutation_p.P69L|SIPA1L1_uc001xmu.2_Missense_Mutation_p.P69L|SIPA1L1_uc001xmv.2_Missense_Mutation_p.P69L NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 69 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ACCTCAACCCCCGGAGTCCCA 0.507 NA 48 20 0 0 0 0 ACOT4 122970 broad.mit.edu 37 14 74060510 74060510 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr14:74060510C>T uc001xoo.2 + 2 816 c.562C>T c.(562-564)CTA>TTA p.L188L NM_152331 NP_689544 Q8N9L9 ACOT4_HUMAN acyl-CoA thioesterase 4 188 ALAY -> DLQS (in Ref. 1; BAC04313). acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process peroxisome carboxylesterase activity|palmitoyl-CoA hydrolase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00331) CACGTTGGCTCTAGCTTATTA 0.493 NA 49 16 0 0 0 0 SERPINA9 327657 broad.mit.edu 37 14 94933495 94933495 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr14:94933495C>A uc001ydf.2 - 3 1068 c.907G>T c.(907-909)GCC>TCC p.A303S SERPINA9_uc001yde.2_Missense_Mutation_p.A203S|SERPINA9_uc010avc.2_Missense_Mutation_p.A154S|SERPINA9_uc001ydg.2_Missense_Mutation_p.A267S|SERPINA9_uc001ydh.1_Missense_Mutation_p.A303S|SERPINA9_uc001ydi.1_Missense_Mutation_p.A267S NM_175739 NP_783866 Q86WD7 SPA9_HUMAN serine (or cysteine) proteinase inhibitor, clade 285 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity lung(1)|central_nervous_system(1) 2 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) GCTGACAAGGCCTGTTCCAGT 0.537 NA 19 20 8.01e-06 1.74e-05 1 0 HHIPL1 84439 broad.mit.edu 37 14 100119179 100119179 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr14:100119179G>A uc010avs.2 + 2 939 c.874G>A c.(874-876)GAG>AAG p.E292K HHIPL1_uc001ygl.1_Missense_Mutation_p.E292K NM_001127258 NP_001120730 Q96JK4 HIPL1_HUMAN HHIP-like protein 1 isoform a 292 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity skin(2) 2 Melanoma(154;0.128) CGAGGATGACGAGAACGCCGT 0.607 NA 12 9 0 0 0 0 OR4M2 390538 broad.mit.edu 37 15 22368621 22368621 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:22368621G>T uc010tzu.1 + 1 46 c.46G>T c.(46-48)GGC>TGC p.G16C LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TGTTCTCACTGGCCTATCCCA 0.333 NA 44 135 1.42e-22 3.82e-22 1 0 NDN 4692 broad.mit.edu 37 15 23931741 23931741 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:23931741G>C uc001ywk.2 - 1 710 c.624C>G c.(622-624)AGC>AGG p.S208R NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 208 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) TCCAGACGGCGCTCTCTCTGG 0.637 NA Prader-Willi_syndrome 19 27 0 0 0 0 BUB1B 701 broad.mit.edu 37 15 40494809 40494809 + Nonsense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:40494809C>T uc001zkx.3 + 14 1860 c.1648C>T c.(1648-1650)CGA>TGA p.R550* BUB1B_uc010ucl.1_Nonsense_Mutation_p.R418* NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 550 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|kidney(1) 4 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) AGATCCCCCACGAGTTTTAGC 0.398 NA Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome 56 89 0 0 0 0 C15orf23 90417 broad.mit.edu 37 15 40675055 40675055 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:40675055C>A uc001zll.2 + 1 134 c.19C>A c.(19-21)CCG>ACG p.P7T C15orf23_uc010ucp.1_Missense_Mutation_p.P7T|C15orf23_uc001zlo.2_Missense_Mutation_p.P7T|C15orf23_uc001zlm.2_RNA|C15orf23_uc001zln.2_RNA NM_033286 NP_150628 Q9Y448 T4AF1_HUMAN TRAF4 associated factor 1 isoform a 7 nucleus protein binding ovary(1)|skin(1) 2 all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798) TCCCGAAGCCCCGCCCCTGGA 0.592 NA 10 13 2.18e-05 4.67e-05 1 0 SPTBN5 51332 broad.mit.edu 37 15 42159161 42159161 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:42159161G>A uc001zos.2 - 36 6704 c.6371C>T c.(6370-6372)ACC>ATC p.T2124I hsa-mir-4310|MI0015840_5'Flank NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 2159 Spectrin 18. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) TCTGACCTGGGTTGCGGCCTG 0.647 NA 6 4 0 0 0 0 DUOX2 50506 broad.mit.edu 37 15 45402630 45402630 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:45402630T>A uc010bea.2 - 9 1239 c.1036A>T c.(1036-1038)ATG>TTG p.M346L DUOX2_uc001zun.2_Missense_Mutation_p.M346L NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN dual oxidase 2 precursor 346 Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity ovary(2)|skin(2)|pancreas(1) 5 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CCTCACCTCATGTAGACACCA 0.577 NA 21 21 0 0 0 0 UNC13C 440279 broad.mit.edu 37 15 54586184 54586184 + Nonsense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:54586184G>T uc002ack.2 + 9 3910 c.3910G>T c.(3910-3912)GAG>TAG p.E1304* UNC13C_uc002acl.2_Nonsense_Mutation_p.E134* NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1304 C2 1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TTTCAAAAAGGAGTCAGATGA 0.358 NA 61 83 4.09e-26 1.13e-25 1 0 NEDD4 4734 broad.mit.edu 37 15 56130375 56130375 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:56130375G>C uc002adj.2 - 19 3688 c.3388C>G c.(3388-3390)CAT>GAT p.H1130D NEDD4_uc002adl.2_Missense_Mutation_p.H711D|NEDD4_uc002adi.2_Missense_Mutation_p.H1058D|NEDD4_uc010ugj.1_Missense_Mutation_p.H1114D|NEDD4_uc010bfm.2_Missense_Mutation_p.H1113D|NEDD4_uc002adk.2_RNA NM_198400 NP_006145 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally 1130 HECT. development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|breast(1) 4 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) TCATGTTGATGTGTCTAAAAT 0.244 NA 2 9 0 0 0 0 KIAA1024 23251 broad.mit.edu 37 15 79750339 79750339 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:79750339G>T uc002bew.1 + 2 1925 c.1850G>T c.(1849-1851)CGT>CTT p.R617L KIAA1024_uc010unk.1_Missense_Mutation_p.R617L NM_015206 NP_056021 Q9UPX6 K1024_HUMAN hypothetical protein LOC23251 617 integral to membrane pancreas(2)|ovary(1)|central_nervous_system(1) 4 TCGGGTGTCCGTGATGAAATC 0.488 NA 32 54 8.89e-20 2.36e-19 1 0 AKAP13 11214 broad.mit.edu 37 15 86123011 86123011 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:86123011C>T uc002blv.1 + 7 1882 c.1712C>T c.(1711-1713)TCA>TTA p.S571L AKAP13_uc002blt.1_Missense_Mutation_p.S571L|AKAP13_uc002blu.1_Missense_Mutation_p.S571L NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 571 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|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 ACGGAAACTTCACGAAGTCGT 0.443 NA 50 70 0 0 0 0 AGBL1 123624 broad.mit.edu 37 15 87066040 87066040 + Splice_Site SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:87066040G>T uc002blz.1 + 18 2498 c.2418_splice c.e18-1 p.N806_splice NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 TGTTCCTGTAGCCACAGATGC 0.388 NA 40 32 1.6e-16 4.16e-16 1 0 GRIN2A 2903 broad.mit.edu 37 16 9857768 9857768 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:9857768G>A uc002czo.3 - 13 4181 c.3633C>T c.(3631-3633)TCC>TCT p.S1211S GRIN2A_uc010uym.1_Silent_p.S1211S|GRIN2A_uc010uyn.1_Silent_p.S1054S|GRIN2A_uc002czr.3_Silent_p.S1211S NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1211 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGCAGTGCGTGGAGTTCTGCC 0.552 NA 194 158 0 0 0 0 PDILT 204474 broad.mit.edu 37 16 20386177 20386177 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:20386177G>C uc002dhc.1 - 5 871 c.648C>G c.(646-648)CAC>CAG p.H216Q NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 216 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 CAAGGGTGACGTGGAAACGCC 0.398 NA 56 41 0 0 0 0 IGSF6 10261 broad.mit.edu 37 16 21654459 21654459 + Missense_Mutation SNP C C A rs146422757 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:21654459C>A uc002djg.1 - 5 655 c.602G>T c.(601-603)CGT>CTT p.R201L uc002diq.3_Intron|METTL9_uc002dje.2_Intron|METTL9_uc002djf.2_Intron NM_005849 NP_005840 O95976 IGSF6_HUMAN immunoglobulin superfamily, member 6 precursor 201 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity 0 GBM - Glioblastoma multiforme(48;0.066) CTGAAAAATACGCCGAGCACT 0.328 NA 64 55 2.38e-16 6.17e-16 1 0 OTOA 146183 broad.mit.edu 37 16 21742247 21742247 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:21742247C>T uc002djh.2 + 20 2298 c.2297C>T c.(2296-2298)ACA>ATA p.T766I uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.T687I|OTOA_uc002dji.2_Missense_Mutation_p.T442I|OTOA_uc010vbk.1_Missense_Mutation_p.T414I NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 780 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(48;0.0414) TCTATAGCCACAAAGGTAATG 0.453 NA 24 27 0 0 0 0 ERN2 10595 broad.mit.edu 37 16 23706706 23706706 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:23706706G>C uc002dma.3 - 15 1928 c.1759C>G c.(1759-1761)CAG>GAG p.Q587E ERN2_uc010bxp.2_Missense_Mutation_p.Q535E NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signalling 2 539 Protein kinase.|Cytoplasmic (Potential). apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CCCTCAAACTGTCCCCTGGAA 0.512 NA 9 6 0 0 0 0 AQP8 343 broad.mit.edu 37 16 25238439 25238439 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:25238439C>T uc002doc.2 + 5 735 c.653C>T c.(652-654)GCG>GTG p.A218V NM_001169 NP_001160 O94778 AQP8_HUMAN aquaporin 8 218 Extracellular (Potential). cellular response to cAMP integral to plasma membrane water channel activity upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(48;0.044) TTTGGACCTGCGGTGGTGGCC 0.607 NA 32 84 0 0 0 0 ZNF764 92595 broad.mit.edu 37 16 30566697 30566697 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:30566697C>T uc002dyq.2 - 3 1126 c.1045G>A c.(1045-1047)GGC>AGC p.G349S ZNF764_uc002dyr.1_Missense_Mutation_p.G348S NM_033410 NP_219363 Q96H86 ZN764_HUMAN zinc finger protein 764 349 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AAGCGGCGGCCGCACTGCGGG 0.736 NA 7 13 0 0 0 0 SRCAP 10847 broad.mit.edu 37 16 30749357 30749357 + Nonsense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:30749357G>T uc002dze.1 + 34 8381 c.7996G>T c.(7996-7998)GAG>TAG p.E2666* SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Nonsense_Mutation_p.E2461* NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 2666 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) GCCACTTCAGGAGCCACTGGA 0.592 NA 34 70 5.92e-21 1.59e-20 1 0 KARS 3735 broad.mit.edu 37 16 75675607 75675607 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:75675607C>A uc002feq.2 - 2 125 c.77G>T c.(76-78)CGC>CTC p.R26L KARS_uc002fer.2_Missense_Mutation_p.R54L|KARS_uc002fes.2_5'UTR|KARS_uc010cgz.2_5'Flank|KARS_uc010cha.1_Missense_Mutation_p.R63L NM_005548 NP_005539 Q15046 SYK_HUMAN lysyl-tRNA synthetase isoform 2 26 Missing: Loss of nuclear localization, but no effect on packaging into HIV-1. interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding ovary(2) 2 L-Lysine(DB00123) AGCTTTCAGGCGTCTCTTCAG 0.478 NA 30 26 7.01e-11 1.7e-10 1 0 ATMIN 23300 broad.mit.edu 37 16 81069786 81069786 + Missense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:81069786A>T uc002ffz.1 + 1 329 c.311A>T c.(310-312)CAC>CTC p.H104L ATMIN_uc002fga.2_5'Flank|ATMIN_uc010vnn.1_5'Flank NM_015251 NP_056066 O43313 ATMIN_HUMAN ATM interactor 104 C2H2-type 1. response to DNA damage stimulus nucleus zinc ion binding 0 CTCAACATGCACCTAGTCAAG 0.602 NA 12 4 0 0 0 0 USP10 9100 broad.mit.edu 37 16 84793532 84793532 + Missense_Mutation SNP T T G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:84793532T>G uc002fii.2 + 7 1572 c.1430T>G c.(1429-1431)GTA>GGA p.V477G USP10_uc010voe.1_Missense_Mutation_p.V481G|USP10_uc010vof.1_Missense_Mutation_p.V39G|USP10_uc002fij.2_Missense_Mutation_p.V3G NM_005153 NP_005144 Q14694 UBP10_HUMAN ubiquitin specific protease 10 477 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity 0 AATATGCCAGTACCTCCAAAA 0.328 NA 27 18 0 0 0 0 PITPNM3 83394 broad.mit.edu 37 17 6377866 6377866 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:6377866G>T uc002gdd.3 - 10 1295 c.1144C>A c.(1144-1146)CTC>ATC p.L382I PITPNM3_uc010cln.2_Missense_Mutation_p.L346I|PITPNM3_uc010clm.2_5'Flank|PITPNM3_uc002gdc.3_5'UTR NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN PITPNM family member 3 isoform 1 382 phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding ovary(2)|central_nervous_system(2) 4 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) ACCTCAGGGAGCTGCGGCCCC 0.667 NA 9 3 0.000274275 0.000568434 1 0 TP53 7157 broad.mit.edu 37 17 7574017 7574017 + Missense_Mutation SNP C C A rs121912664 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:7574017C>A uc002gim.2 - 10 1204 c.1010G>T c.(1009-1011)CGC>CTC p.R337L TP53_uc002gig.1_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.R205L|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.R337L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 337 Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2. R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R337C(12)|p.0?(7)|p.R337L(5)|p.R337H(2)|p.?(1)|p.I332fs*5(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CATCTCGAAGCGCTCACGCCC 0.453 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 20 11 1.98e-07 4.49e-07 1 0 PER1 5187 broad.mit.edu 37 17 8044497 8044497 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:8044497G>A uc002gkd.2 - 23 4000 c.3762C>T c.(3760-3762)GCC>GCT p.A1254A PER1_uc010cns.2_Silent_p.A128A|PER1_uc010vuq.1_RNA NM_002616 NP_002607 O15534 PER1_HUMAN period 1 1254 CRY binding domain (By similarity). circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 CCCCGCCTTGGGCCTCCTCGC 0.637 NA T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes 118 56 0 0 0 0 PFAS 5198 broad.mit.edu 37 17 8168408 8168408 + Missense_Mutation SNP A A T rs146379979 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:8168408A>T uc002gkr.2 + 18 2386 c.2245A>T c.(2245-2247)ACC>TCC p.T749S PFAS_uc010vuv.1_Missense_Mutation_p.T325S|PFAS_uc002gks.2_5'Flank NM_012393 NP_036525 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 749 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding ovary(2)|central_nervous_system(2)|pancreas(1) 5 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CGAAGCCCTCACCAACCTGGT 0.622 NA 16 5 0 0 0 0 MYH8 4626 broad.mit.edu 37 17 10302868 10302868 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:10302868G>C uc002gmm.2 - 28 3949 c.3854C>G c.(3853-3855)ACA>AGA p.T1285R uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1285 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 ACCCGCTTCTGTCTGCAGGCG 0.473 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 45 16 0 0 0 0 MYH1 4619 broad.mit.edu 37 17 10395801 10395801 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:10395801C>T uc002gmo.2 - 40 5846 c.5752G>A c.(5752-5754)GAG>AAG p.E1918K uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1918 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 ACCTGGGACTCAGCAATGTCA 0.488 NA 62 31 0 0 0 0 UNC45B 146862 broad.mit.edu 37 17 33486400 33486400 + Missense_Mutation SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:33486400A>G uc002hja.2 + 8 912 c.815A>G c.(814-816)AAG>AGG p.K272R UNC45B_uc002hjb.2_Missense_Mutation_p.K272R|UNC45B_uc002hjc.2_Missense_Mutation_p.K272R|UNC45B_uc010cto.2_Missense_Mutation_p.K272R NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 272 cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) TCAGACACCAAGAAGGACCTG 0.507 NA 130 233 0 0 0 0 ATXN7L3 56970 broad.mit.edu 37 17 42274669 42274669 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:42274669C>A uc002iga.2 - 3 374 c.283G>T c.(283-285)GCC>TCC p.A95S ATXN7L3_uc010wiv.1_5'Flank|ATXN7L3_uc002ifz.2_Missense_Mutation_p.A95S NM_001098833 NP_001092303 Q14CW9 AT7L3_HUMAN ataxin 7-like 3 isoform b 95 SGF11-type. histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding 0 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) AAGCGGGAGGCGGCAATGCTG 0.592 NA 74 84 2.24e-25 6.16e-25 1 0 MYST2 11143 broad.mit.edu 37 17 47886541 47886541 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:47886541G>A uc002ipm.2 + 6 850 c.724G>A c.(724-726)GAC>AAC p.D242N MYST2_uc002ipl.1_Intron|MYST2_uc010wma.1_Missense_Mutation_p.D103N|MYST2_uc010wmb.1_Intron|MYST2_uc010wmc.1_Intron|MYST2_uc010wmd.1_Missense_Mutation_p.D86N|MYST2_uc010wme.1_Intron NM_007067 NP_008998 O95251 MYST2_HUMAN MYST histone acetyltransferase 2 242 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 CAGGCAAGATGACAACAACAG 0.473 NA 15 41 0 0 0 0 SPAG9 9043 broad.mit.edu 37 17 49074019 49074019 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:49074019C>T uc002itc.2 - 16 2084 c.1875G>A c.(1873-1875)AAG>AAA p.K625K SPAG9_uc002itb.2_Silent_p.K611K|SPAG9_uc002itd.2_Silent_p.K615K|SPAG9_uc002itf.2_Silent_p.K446K|SPAG9_uc002ita.2_Silent_p.K468K|SPAG9_uc002ite.2_Silent_p.K455K NM_001130528 NP_001124000 O60271 JIP4_HUMAN sperm associated antigen 9 isoform 1 625 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm lung(4)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) ACTGCTCTCTCTTTTGTTCTC 0.393 NA 12 32 0 0 0 0 PRKAR1A 5573 broad.mit.edu 37 17 66511665 66511665 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:66511665G>T uc002jhg.2 + 2 305 c.125G>T c.(124-126)CGA>CTA p.R42L PRKAR1A_uc002jhh.2_Missense_Mutation_p.R42L|PRKAR1A_uc002jhi.2_Missense_Mutation_p.R42L|PRKAR1A_uc002jhj.2_Missense_Mutation_p.R42L|PRKAR1A_uc002jhk.2_5'UTR|PRKAR1A_uc002jhl.2_Missense_Mutation_p.R42L|PRKAR1A_uc002jhm.2_Missense_Mutation_p.R42L NM_212471 NP_997636 P10644 KAP0_HUMAN cAMP-dependent protein kinase, regulatory 42 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding adrenal_gland(4)|lung(3)|thyroid(2)|soft_tissue(2)|breast(1) 12 Breast(10;1.64e-13) TGCACTGCTCGACCTGAGAGA 0.473 NA T|Mis|N|F|S RET papillary thyroid myxoma|endocrine|papillary thyroid Carney_Complex|Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial|Cardiac_Myxomas_Familial_Clustering_of 13 17 4.75e-09 1.12e-08 1 0 ABCA8 10351 broad.mit.edu 37 17 66914238 66914238 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:66914238C>T uc002jhp.2 - 14 2056 c.1877G>A c.(1876-1878)CGC>CAC p.R626H ABCA8_uc002jhq.2_Missense_Mutation_p.R666H|ABCA8_uc010wqq.1_Missense_Mutation_p.R666H|ABCA8_uc010wqr.1_Missense_Mutation_p.R605H|ABCA8_uc002jhr.2_Missense_Mutation_p.R666H NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 626 ABC transporter 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) GAGGATCACGCGGTCTGTTTT 0.458 NA 22 39 0 0 0 0 KIF19 124602 broad.mit.edu 37 17 72348368 72348368 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:72348368G>T uc002jkm.3 + 14 2007 c.1869G>T c.(1867-1869)CTG>CTT p.L623L KIF19_uc002jkl.2_Silent_p.L581L NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 623 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 ACTACAACCTGGCCGTCCCGC 0.687 NA 9 30 3.1e-07 6.95e-07 1 0 ENPP7 339221 broad.mit.edu 37 17 77708950 77708950 + Missense_Mutation SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr17:77708950A>G uc002jxa.2 + 3 528 c.508A>G c.(508-510)ACG>GCG p.T170A NM_178543 NP_848638 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 170 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity central_nervous_system(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CAAAAATGAGACGGAGTGGAG 0.597 NA 21 31 0 0 0 0 SMCHD1 23347 broad.mit.edu 37 18 2770009 2770009 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr18:2770009G>C uc002klm.3 + 39 5058 c.4869G>C c.(4867-4869)ATG>ATC p.M1623I SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 1623 chromosome organization ATP binding 0 AGCAACAAATGGCAGCACTTA 0.279 NA 14 35 0 0 0 0 MYOM1 8736 broad.mit.edu 37 18 3129467 3129467 + Nonsense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr18:3129467C>A uc002klp.2 - 18 2891 c.2557G>T c.(2557-2559)GGA>TGA p.G853* MYOM1_uc002klq.2_Intron NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 853 striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 GCGGTTAGTCCACCAGGCTCA 0.567 NA OREG0024838 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 64 8.05e-23 2.17e-22 1 0 EPB41L3 23136 broad.mit.edu 37 18 5415942 5415942 + Missense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr18:5415942A>T uc002kmt.1 - 13 2028 c.1942T>A c.(1942-1944)TTC>ATC p.F648I EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 648 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 GGCACTGAGAAGGAGGCAGAC 0.577 NA 29 45 0 0 0 0 C18orf19 125228 broad.mit.edu 37 18 13681843 13681843 + Silent SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr18:13681843T>A uc010dlh.2 - 3 666 c.234A>T c.(232-234)CCA>CCT p.P78P C18orf19_uc010dlg.2_Silent_p.P78P|C18orf19_uc010dli.2_Silent_p.P78P|C18orf19_uc002ksj.3_Silent_p.P78P|C18orf19_uc010dlj.2_Intron NM_001098801 NP_001092271 Q96ND0 CR019_HUMAN hypothetical protein LOC125228 78 integral to membrane breast(2) 2 GAAGGACTCCTGGTTGGGGTG 0.488 NA 59 108 0 0 0 0 CDH2 1000 broad.mit.edu 37 18 25591835 25591835 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr18:25591835C>A uc002kwg.2 - 4 980 c.521G>T c.(520-522)GGA>GTA p.G174V CDH2_uc010xbn.1_Missense_Mutation_p.G143V NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 174 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 AGGAAAAGGTCCCCTGGAGTT 0.408 NA 45 176 2.25e-20 6e-20 1 0 MAPRE2 10982 broad.mit.edu 37 18 32706962 32706962 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr18:32706962C>T uc002kyg.2 + 5 841 c.661C>T c.(661-663)CCC>TCC p.P221S MAPRE2_uc010xcb.1_Missense_Mutation_p.P178S|MAPRE2_uc010xcc.1_Missense_Mutation_p.P209S|MAPRE2_uc002kyf.2_Missense_Mutation_p.P221S|MAPRE2_uc002kyh.2_Missense_Mutation_p.P168S|MAPRE2_uc010xcd.1_Missense_Mutation_p.P178S NM_014268 NP_055083 Q15555 MARE2_HUMAN microtubule-associated protein, RP/EB family, 221 DCTN1-binding. cell division|cell proliferation|mitosis|signal transduction cytoplasm|microtubule microtubule binding ovary(1) 1 ACCTTCTCGACCCTCATCAGC 0.418 NA 66 33 0 0 0 0 C18orf25 147339 broad.mit.edu 37 18 43795987 43795987 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr18:43795987G>T uc002lbw.2 + 2 520 c.141G>T c.(139-141)GCG>GCT p.A47A C18orf25_uc002lbx.2_Silent_p.A47A NM_145055 NP_659492 Q96B23 CR025_HUMAN ARKadia-like 1 isoform a 47 central_nervous_system(2) 2 ATGGTGTAGCGGATTCTACAG 0.458 NA 91 25 6.72e-41 1.94e-40 1 0 ST8SIA5 29906 broad.mit.edu 37 18 44284609 44284609 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr18:44284609C>A uc002lcj.1 - 2 718 c.150G>T c.(148-150)GAG>GAT p.E50D ST8SIA5_uc002lci.1_Translation_Start_Site|ST8SIA5_uc010xcy.1_Missense_Mutation_p.E86D|ST8SIA5_uc010xcz.1_Intron|ST8SIA5_uc010dno.1_Missense_Mutation_p.E86D NM_013305 NP_037437 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide 50 Lumenal (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 3 CAAAAGGCCCCTCATAAAATT 0.512 NA 7 241 0.00307968 0.00617843 1 0 TCEB3B 51224 broad.mit.edu 37 18 44560256 44560256 + Silent SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr18:44560256T>C uc002lcr.1 - 1 1733 c.1380A>G c.(1378-1380)TCA>TCG p.S460S KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 460 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 CCCAGAGCTCTGAGAAGACAT 0.592 NA 103 72 0 0 0 0 DCC 1630 broad.mit.edu 37 18 50866235 50866235 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr18:50866235C>A uc002lfe.1 + 15 2904 c.2317C>A c.(2317-2319)CGT>AGT p.R773S DCC_uc010xdr.1_Missense_Mutation_p.R621S|DCC_uc010dpf.1_Missense_Mutation_p.R428S NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 773 Extracellular (Potential).|Fibronectin type-III 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TGAGACAGTGCGTGTGGACAG 0.418 NA 68 49 3.14e-25 8.63e-25 1 0 LPPR3 79948 broad.mit.edu 37 19 813188 813188 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:813188G>A uc002lpx.1 - 8 1603 c.1539C>T c.(1537-1539)GCC>GCT p.A513A LPPR3_uc010dru.1_Silent_p.A425A|LPPR3_uc002lpw.1_Silent_p.A541A|LPPR3_uc002lpy.1_Silent_p.A294A|hsa-mir-3187|MI0014231_5'Flank NM_024888 NP_079164 Q6T4P5 LPPR3_HUMAN plasticity-related protein 2 513 integral to membrane phosphatidate phosphatase activity 0 CGCGCACCCCGGCGCCGCTTT 0.637 NA 8 9 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9064360 9064360 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:9064360C>T uc002mkp.2 - 3 23290 c.23086G>A c.(23086-23088)GTG>ATG p.V7696M NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7698 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGTGAGGTCACGGCAGGTAAA 0.582 NA 18 49 0 0 0 0 DNMT1 1786 broad.mit.edu 37 19 10265725 10265725 + Silent SNP G G A rs75443147 by1000genomes TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:10265725G>A uc002mng.2 - 19 1632 c.1452C>T c.(1450-1452)GCC>GCT p.A484A DNMT1_uc010xlc.1_Silent_p.A500A|DNMT1_uc002mnh.2_Silent_p.A379A|DNMT1_uc010xld.1_Silent_p.A484A NM_001379 NP_001370 P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 isoform b 484 DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) GAATGTATTCGGCAAATGCTG 0.532 NA 37 38 0 0 0 0 MAST1 22983 broad.mit.edu 37 19 12958435 12958435 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:12958435C>T uc002mvm.2 + 6 626 c.498C>T c.(496-498)CGC>CGT p.R166R MAST1_uc002mvk.2_Silent_p.R162R|MAST1_uc002mvl.2_Missense_Mutation_p.A140V NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 166 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 GCCCCGGGCGCTCCCCCTCCT 0.627 NA OREG0025277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 43 0 0 0 0 IL27RA 9466 broad.mit.edu 37 19 14163009 14163009 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:14163009C>A uc002mxx.2 + 14 2241 c.1818C>A c.(1816-1818)ACC>ACA p.T606T NM_004843 NP_004834 Q6UWB1 I27RA_HUMAN class I cytokine receptor precursor 606 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity 0 CCCAGGCCACCGCCCCGCTTG 0.662 NA 16 14 3.53e-06 7.7e-06 1 0 CIB3 117286 broad.mit.edu 37 19 16275696 16275696 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:16275696C>A uc002nds.2 - 5 375 c.375G>T c.(373-375)GCG>GCT p.A125A CIB3_uc010eae.2_Silent_p.A64A|CIB3_uc010eaf.2_RNA|CIB3_uc010eag.2_Silent_p.A76A NM_054113 NP_473454 Q96Q77 CIB3_HUMAN DNA-dependent protein kinase catalytic 125 EF-hand 2.|1 (Potential). calcium ion binding ovary(1) 1 CCAGGTCCCACGCACAAATGT 0.597 NA 28 87 1.04e-07 2.38e-07 1 0 GLT25D1 79709 broad.mit.edu 37 19 17679367 17679367 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:17679367G>T uc002nhc.1 + 5 686 c.674G>T c.(673-675)CGC>CTC p.R225L GLT25D1_uc010eax.1_5'UTR NM_024656 NP_078932 Q8NBJ5 GT251_HUMAN glycosyltransferase 25 domain containing 1 225 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity 0 AAGCGAGACCGCCGGGGCTGC 0.617 NA 25 43 1.77e-15 4.57e-15 1 0 UNC13A 23025 broad.mit.edu 37 19 17766748 17766748 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:17766748G>T uc002nhd.2 - 11 1491 c.1491C>A c.(1489-1491)GAC>GAA p.D497E NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 409 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 CAGGCACCTTGTCGGGCGTGG 0.697 NA 5 16 1.24e-05 2.67e-05 1 0 HAPLN4 404037 broad.mit.edu 37 19 19368850 19368850 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:19368850G>A uc002nmb.2 - 5 1040 c.985C>T c.(985-987)CGC>TGC p.R329C HAPLN4_uc002nmc.2_Missense_Mutation_p.R329C NM_023002 NP_075378 Q86UW8 HPLN4_HUMAN hyaluronan and proteoglycan link protein 4 329 Link 2. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding pancreas(1) 1 Epithelial(12;0.00575) ATGGGGTAGCGCGCACTGCCA 0.731 NA 4 4 0 0 0 0 SLC7A9 11136 broad.mit.edu 37 19 33333131 33333131 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:33333131C>A uc002ntv.3 - 11 1284 c.1167G>T c.(1165-1167)ACG>ACT p.T389T SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Silent_p.T389T|SLC7A9_uc002ntw.3_Silent_p.T180T NM_001126335 NP_001119807 P82251 BAT1_HUMAN solute carrier family 7, member 9 389 Helical; (Potential). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding skin(1) 1 Esophageal squamous(110;0.137) L-Cystine(DB00138) GTCCTAGAATCGTCAGGCCAT 0.428 NA 15 42 4.75e-09 1.12e-08 1 0 FCGBP 8857 broad.mit.edu 37 19 40421289 40421289 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:40421289G>A uc002omp.3 - 5 2640 c.2632C>T c.(2632-2634)CGG>TGG p.R878W NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 878 VWFD 2. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCGAAGCGCCGGCCGTCGAAG 0.667 NA 4 9 0 0 0 0 FKRP 79147 broad.mit.edu 37 19 47259642 47259642 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:47259642G>A uc002pfn.2 + 4 1232 c.935G>A c.(934-936)CGC>CAC p.R312H FKRP_uc002pfp.2_Missense_Mutation_p.R312H NM_024301 NP_077277 Q9H9S5 FKRP_HUMAN fukutin-related protein 312 R -> C (in MDDGC5). extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma transferase activity pancreas(1) 1 all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336) TACGAGGAGCGCTGGACGCCC 0.726 NA 6 4 0 0 0 0 TSKS 60385 broad.mit.edu 37 19 50245223 50245223 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:50245223C>T uc002ppm.2 - 9 1427 c.1416G>A c.(1414-1416)CTG>CTA p.L472L NM_021733 NP_068379 Q9UJT2 TSKS_HUMAN testis-specific kinase substrate 472 protein binding large_intestine(1)|skin(1) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CTAGTGAGGTCAGTGCTCGGT 0.607 NA 27 38 0 0 0 0 KLK8 11202 broad.mit.edu 37 19 51503433 51503433 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:51503433G>A uc002pur.1 - 4 491 c.312C>T c.(310-312)ATC>ATT p.I104I KLK8_uc002puq.1_Silent_p.I149I|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Silent_p.I104I|KLK9_uc002puv.1_Intron NM_007196 NP_009127 O60259 KLK8_HUMAN kallikrein 8 isoform 1 preproprotein 104 Peptidase S1. cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1) 1 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) AGGGGTGTGGGATGGACTGAA 0.522 NA 54 62 0 0 0 0 KLK9 284366 broad.mit.edu 37 19 51507039 51507039 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:51507039C>T uc002pux.1 - 4 611 c.524G>A c.(523-525)TGT>TAT p.C175Y KLK9_uc002puw.1_RNA|KLK9_uc010eol.1_Missense_Mutation_p.C146Y|KLK8_uc002puq.1_5'Flank|KLK8_uc002pur.1_5'Flank|KLK8_uc002pus.1_5'Flank|KLK8_uc002put.1_5'Flank|KLK8_uc002puu.1_5'Flank|KLK9_uc002puv.1_RNA NM_012315 NP_036447 Q9UKQ9 KLK9_HUMAN kallikrein-related peptidase 9 precursor 175 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1) 1 all_neural(266;0.0652) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) TGCCCAGTGACAGAGTTTGTT 0.567 NA 21 35 0 0 0 0 PEG3 5178 broad.mit.edu 37 19 57335999 57335999 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:57335999C>T uc002qnu.2 - 1 376 c.25G>A c.(25-27)GCC>ACC p.A9T ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.A9T|PEG3_uc002qnv.2_Missense_Mutation_p.A9T|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Missense_Mutation_p.A9T NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 9 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GGTTTGGTGGCAGACAAGTGC 0.488 NA 18 58 0 0 0 0 ZIM3 114026 broad.mit.edu 37 19 57647112 57647112 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:57647112T>C uc002qnz.1 - 5 979 c.593A>G c.(592-594)CAT>CGT p.H198R NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 198 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCCACAGCTATGACATTCAAA 0.438 NA 68 69 0 0 0 0 NBAS 51594 broad.mit.edu 37 2 15679480 15679480 + Missense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:15679480A>T uc002rcc.1 - 7 406 c.380T>A c.(379-381)GTT>GAT p.V127D NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 127 ovary(2)|liver(1)|skin(1) 4 GTCTTTCGGAACTAGAACAAA 0.398 NA 5 39 0 0 0 0 CIB4 130106 broad.mit.edu 37 2 26852280 26852280 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:26852280G>T uc002rhm.2 - 3 213 c.184C>A c.(184-186)CGG>AGG p.R62R NM_001029881 NP_001025052 A0PJX0 CIB4_HUMAN calcium and integrin binding family member 4 62 EF-hand 1. calcium ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGACTCACCCGCAGAGCTGGC 0.622 NA 4 9 0.000602214 0.00123884 1 0 KHK 3795 broad.mit.edu 37 2 27322328 27322328 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:27322328G>T uc002ril.2 + 7 1211 c.694G>T c.(694-696)GCC>TCC p.A232S KHK_uc002rim.2_Missense_Mutation_p.A232S|KHK_uc002rin.2_Missense_Mutation_p.A233S|KHK_uc002rio.2_Missense_Mutation_p.A148S|CGREF1_uc010ylf.1_3'UTR|CGREF1_uc002rip.1_3'UTR NM_000221 NP_000212 P50053 KHK_HUMAN ketohexokinase isoform a 232 fructose catabolic process cytosol ATP binding|ketohexokinase activity|protein binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGCGCCGACGCCCTGGGCCC 0.652 NA 17 70 1.56e-12 3.91e-12 1 0 SNX17 9784 broad.mit.edu 37 2 27596131 27596131 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:27596131C>A uc002rkg.1 + 4 496 c.274C>A c.(274-276)CTT>ATT p.L92I EIF2B4_uc002rka.2_5'Flank|EIF2B4_uc002rkb.2_5'Flank|EIF2B4_uc002rkc.2_5'Flank|EIF2B4_uc002rkd.2_5'Flank|EIF2B4_uc002rke.2_5'Flank|EIF2B4_uc002rkf.1_5'Flank|SNX17_uc010ylj.1_Missense_Mutation_p.L72I|SNX17_uc010ylk.1_5'UTR|SNX17_uc010eza.1_5'UTR|SNX17_uc002rki.1_RNA|SNX17_uc002rkh.1_5'UTR|SNX17_uc010yll.1_5'UTR|SNX17_uc010ylm.1_5'UTR|SNX17_uc010yln.1_Missense_Mutation_p.L80I|SNX17_uc010ylo.1_Missense_Mutation_p.L10I|SNX17_uc010ylp.1_Missense_Mutation_p.L67I|SNX17_uc010ylq.1_5'UTR NM_014748 NP_055563 Q15036 SNX17_HUMAN sorting nexin 17 92 PX. cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGACCCATTGCTTGGGAGCAG 0.527 NA 17 68 0.000958276 0.00196093 1 0 SLC4A1AP 22950 broad.mit.edu 37 2 27898488 27898488 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:27898488G>A uc002rlk.3 + 6 1717 c.1435G>A c.(1435-1437)GAG>AAG p.E479K NM_018158 NP_060628 Q9BWU0 NADAP_HUMAN solute carrier family 4 (anion exchanger), 479 cytoplasm|nucleus double-stranded RNA binding|protein binding 0 Acute lymphoblastic leukemia(172;0.155) TGGCCTGATTGAGAAGAAGCG 0.413 NA 12 36 0 0 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48873734 48873734 + Silent SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:48873734A>G uc010yol.1 + 5 2549 c.2502A>G c.(2500-2502)CCA>CCG p.P834P STON1-GTF2A1L_uc002rwp.1_Silent_p.P881P|GTF2A1L_uc002rws.1_Silent_p.P177P|GTF2A1L_uc010yom.1_Silent_p.P143P|GTF2A1L_uc002rwt.2_Silent_p.P177P NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 834 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AATTGAATCCATGGTCTCTTC 0.428 NA 39 32 0 0 0 0 FAM136A 84908 broad.mit.edu 37 2 70527991 70527991 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:70527991C>T uc002sgq.3 - 2 286 c.209G>A c.(208-210)AGT>AAT p.S70N FAM136A_uc010fdp.2_RNA NM_032822 NP_116211 Q96C01 F136A_HUMAN hypothetical protein LOC84908 70 mitochondrion protein binding 0 CTCCAGCTCACTGGTGACCAA 0.522 NA 65 145 0 0 0 0 DYSF 8291 broad.mit.edu 37 2 71909661 71909661 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:71909661C>A uc002sie.2 + 54 6434 c.6058C>A c.(6058-6060)CGC>AGC p.R2020S DYSF_uc010feg.2_Missense_Mutation_p.R2051S|DYSF_uc010feh.2_Missense_Mutation_p.R2027S|DYSF_uc002sig.3_Missense_Mutation_p.R2006S|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R2041S|DYSF_uc010fef.2_Missense_Mutation_p.R2058S|DYSF_uc010fei.2_Missense_Mutation_p.R2037S|DYSF_uc010fek.2_Missense_Mutation_p.R2038S|DYSF_uc010fej.2_Missense_Mutation_p.R2028S|DYSF_uc010fel.2_Missense_Mutation_p.R2007S|DYSF_uc010feo.2_Missense_Mutation_p.R2052S|DYSF_uc010fem.2_Missense_Mutation_p.R2042S|DYSF_uc010fen.2_Missense_Mutation_p.R2059S|DYSF_uc002sif.2_Missense_Mutation_p.R2021S|DYSF_uc010yqy.1_Missense_Mutation_p.R901S|DYSF_uc010yqz.1_Missense_Mutation_p.R781S NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 2020 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CGCTTCCAGGCGCCCCGACAC 0.522 NA 34 99 1.71e-08 3.98e-08 1 0 SLC4A5 57835 broad.mit.edu 37 2 74452068 74452068 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:74452068C>A uc002sko.1 - 24 3195 c.3193G>T c.(3193-3195)GAC>TAC p.D1065Y SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.D1049Y|SLC4A5_uc010ffc.1_Missense_Mutation_p.D968Y|SLC4A5_uc002skp.1_Missense_Mutation_p.D947Y|SLC4A5_uc002sks.1_Silent_p.T956T NM_021196 NP_067019 Q9BY07 S4A5_HUMAN sodium bicarbonate transporter 4 isoform a 1065 Extracellular (Potential). apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 9 CAGGCCAGGTCGTGCTGGGAA 0.473 NA 36 95 2.04e-09 4.87e-09 1 0 FAM176A 84141 broad.mit.edu 37 2 75745218 75745218 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:75745218G>T uc002sni.2 - 3 527 c.49C>A c.(49-51)CTC>ATC p.L17I FAM176A_uc002snj.1_Missense_Mutation_p.L4I|FAM176A_uc002snk.1_Missense_Mutation_p.L17I NM_001135032 NP_001128504 Q9H8M9 F176A_HUMAN family with sequence similarity 176, member A 17 Necessary for the localization and biological activity. apoptosis|autophagy endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane 0 ATGTTGCTGAGCAAAGCCATC 0.602 NA 40 33 5.49e-27 1.53e-26 1 0 CTNNA2 1496 broad.mit.edu 37 2 80846291 80846291 + Missense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:80846291A>T uc010ysh.1 + 17 2517 c.2512A>T c.(2512-2514)ACC>TCC p.T838S CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysi.1_Intron|CTNNA2_uc010ysj.1_Intron NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 838 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 TCAACTTTCTACCCACCTCCC 0.443 NA 8 6 0 0 0 0 GPR45 11250 broad.mit.edu 37 2 105858978 105858978 + Silent SNP G G A rs141451236 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:105858978G>A uc002tco.1 + 1 779 c.663G>A c.(661-663)ACG>ACA p.T221T NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 221 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 TCCTCAACACGGTCCGCAAGA 0.677 NA 29 56 0 0 0 0 MERTK 10461 broad.mit.edu 37 2 112754924 112754924 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:112754924C>T uc002thk.1 + 10 1597 c.1475C>T c.(1474-1476)TCA>TTA p.S492L MERTK_uc002thl.1_Missense_Mutation_p.S316L NM_006343 NP_006334 Q12866 MERTK_HUMAN MER receptor tyrosine kinase precursor 492 Extracellular (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1) 9 GCCCCCTCTTCAACTCCGGCG 0.443 NA 87 165 0 0 0 0 DPP10 57628 broad.mit.edu 37 2 116534814 116534814 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:116534814C>A uc002tla.1 + 14 1709 c.1252C>A c.(1252-1254)CTG>ATG p.L418M DPP10_uc002tlb.1_Missense_Mutation_p.L368M|DPP10_uc002tlc.1_Missense_Mutation_p.L414M|DPP10_uc002tle.2_Missense_Mutation_p.L422M|DPP10_uc002tlf.1_Missense_Mutation_p.L411M NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 418 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 CGTGCGGCATCTGACATCAGG 0.378 NA 9 20 3.86e-05 8.19e-05 1 0 DDX18 8886 broad.mit.edu 37 2 118582663 118582663 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:118582663G>T uc002tlh.1 + 9 1453 c.1354G>T c.(1354-1356)GTC>TTC p.V452F NM_006773 NP_006764 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 452 Helicase C-terminal. ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|ovary(1)|lung(1) 4 TGATTTGCCCGTCTTGGCCAT 0.388 NA 48 70 2.14e-14 5.44e-14 1 0 YSK4 80122 broad.mit.edu 37 2 135739048 135739048 + Missense_Mutation SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:135739048A>G uc002tue.1 - 9 3294 c.3263T>C c.(3262-3264)GTA>GCA p.V1088A YSK4_uc002tuf.1_Missense_Mutation_p.V270A|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.V975A|YSK4_uc010zbg.1_Missense_Mutation_p.V220A|YSK4_uc002tuh.3_Missense_Mutation_p.V816A|YSK4_uc002tui.3_3'UTR NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 1088 Protein kinase. ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) CACCTGTTTTACAGCTATTAG 0.353 NA 33 49 0 0 0 0 LRP1B 53353 broad.mit.edu 37 2 141816540 141816540 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:141816540G>T uc002tvj.1 - 9 2292 c.1320C>A c.(1318-1320)AAC>AAA p.N440K LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 440 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) CATTAAATCGGTTTATCCTTA 0.323 NA TSP Lung(27;0.18) 23 58 1.56e-14 3.97e-14 1 0 CYTIP 9595 broad.mit.edu 37 2 158272457 158272457 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:158272457C>A uc002tzj.1 - 8 884 c.812G>T c.(811-813)AGG>ATG p.R271M CYTIP_uc010zcl.1_Missense_Mutation_p.R165M NM_004288 NP_004279 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 271 Ser-rich. regulation of cell adhesion cell cortex|early endosome protein binding ovary(1)|kidney(1)|skin(1) 3 GAAGGCACCCCTGCTGGAGTC 0.532 NA 23 48 2.98e-07 6.72e-07 1 0 SLC4A10 57282 broad.mit.edu 37 2 162761344 162761344 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:162761344G>T uc002ubx.3 + 14 1860 c.1676G>T c.(1675-1677)GGT>GTT p.G559V SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.G529V|SLC4A10_uc010zcs.1_Missense_Mutation_p.G540V NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 559 Helical; (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 TCTCTCTTTGGTGGACAGCCT 0.393 NA 47 62 2.56e-31 7.21e-31 1 0 KCNH7 90134 broad.mit.edu 37 2 163292054 163292054 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:163292054G>T uc002uch.1 - 8 1820 c.1608C>A c.(1606-1608)CGC>CGA p.R536R KCNH7_uc002uci.2_Silent_p.R529R NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 536 Helical; Voltage-sensor; Name=Segment S4; (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) TCCTGGCCACGCGCACAAGAC 0.453 NA 18 24 3.53e-06 7.7e-06 1 0 SCN3A 6328 broad.mit.edu 37 2 165947639 165947639 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:165947639G>C uc002ucx.2 - 28 5516 c.5024C>G c.(5023-5025)TCC>TGC p.S1675C SCN3A_uc010zcy.1_Missense_Mutation_p.S158C|SCN3A_uc002ucy.2_Missense_Mutation_p.S1626C|SCN3A_uc002ucz.2_Missense_Mutation_p.S1626C NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 1675 Helical; Name=S5 of repeat IV; (Potential). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) GGCAAAGTTGGACATCCCAAA 0.443 NA 67 99 0 0 0 0 XIRP2 129446 broad.mit.edu 37 2 168106105 168106105 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:168106105C>A uc002udx.2 + 8 8221 c.8203C>A c.(8203-8205)CAA>AAA p.Q2735K XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.Q2560K|XIRP2_uc010fpq.2_Missense_Mutation_p.Q2513K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.Q81K NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2560 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TCATAAACAGCAATCTGAGAT 0.343 NA 21 39 2.46e-09 5.84e-09 1 0 LRP2 4036 broad.mit.edu 37 2 170055350 170055350 + Missense_Mutation SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:170055350A>G uc002ues.2 - 45 8737 c.8524T>C c.(8524-8526)TGT>CGT p.C2842R NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2842 LDL-receptor class A 19.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCTCCGTCACACAAATAAACG 0.368 NA 12 28 0 0 0 0 LRP2 4036 broad.mit.edu 37 2 170058313 170058313 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:170058313G>T uc002ues.2 - 44 8490 c.8277C>A c.(8275-8277)CGC>CGA p.R2759R NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2759 Extracellular (Potential).|LDL-receptor class A 17. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AGTAATCACAGCGGTAAGAGT 0.498 NA 17 39 3.46e-05 7.37e-05 1 0 TTN 7273 broad.mit.edu 37 2 179614488 179614488 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:179614488G>T uc002unb.2 - 46 12863 c.12639C>A c.(12637-12639)AGC>AGA p.S4213R TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) ATAATTGGTGGCTACAATTAA 0.348 NA 14 29 7.93e-07 1.76e-06 1 0 TTN 7273 broad.mit.edu 37 2 179659867 179659867 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:179659867G>T uc010zfg.1 - 7 1251 c.1027C>A c.(1027-1029)CCC>ACC p.P343T TTN_uc010zfh.1_Missense_Mutation_p.P343T|TTN_uc010zfi.1_Missense_Mutation_p.P343T|TTN_uc010zfj.1_Missense_Mutation_p.P343T|TTN_uc002unb.2_Missense_Mutation_p.P343T|TTN_uc010frg.1_Missense_Mutation_p.P17T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 343 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) TTCCAAGGGGGAGGCACTTCA 0.547 NA 30 46 1.39e-25 3.84e-25 1 0 SSFA2 6744 broad.mit.edu 37 2 182783380 182783380 + Nonsense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:182783380C>G uc002uoi.2 + 12 3165 c.2843C>G c.(2842-2844)TCA>TGA p.S948* SSFA2_uc002uoh.2_Nonsense_Mutation_p.S948*|SSFA2_uc002uoj.2_Nonsense_Mutation_p.S948*|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Nonsense_Mutation_p.S795*|SSFA2_uc002uol.2_Nonsense_Mutation_p.S795*|SSFA2_uc002uom.2_Nonsense_Mutation_p.S416* NM_001130445 NP_001123917 P28290 SSFA2_HUMAN sperm specific antigen 2 isoform 1 948 cytoplasm|plasma membrane actin binding breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0856) ACTCAGAAATCATCTGTTCTA 0.313 NA 30 46 0 0 0 0 NCKAP1 10787 broad.mit.edu 37 2 183818048 183818048 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:183818048C>A uc002upc.2 - 21 2567 c.2165G>T c.(2164-2166)GGG>GTG p.G722V NCKAP1_uc002upb.2_Missense_Mutation_p.G728V NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 722 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) CATAGTCATCCCAACAATTGA 0.363 NA 15 27 4.75e-09 1.12e-08 1 0 COL5A2 1290 broad.mit.edu 37 2 189909940 189909940 + Nonsense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:189909940C>A uc002uqk.2 - 47 3603 c.3328G>T c.(3328-3330)GGA>TGA p.G1110* COL5A2_uc010frx.2_Nonsense_Mutation_p.G686* NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 1110 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) CCAGGTGGTCCTATAGGACCC 0.323 NA 12 17 2.63e-14 6.67e-14 1 0 SDPR 8436 broad.mit.edu 37 2 192701281 192701281 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:192701281C>G uc002utb.2 - 2 976 c.646G>C c.(646-648)GAA>CAA p.E216Q NM_004657 NP_004648 O95810 SDPR_HUMAN serum deprivation response protein 216 Potential. caveola|cytosol phosphatidylserine binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) GCACTGTCTTCCAGGGCCTCC 0.502 NA 47 79 0 0 0 0 AOX1 316 broad.mit.edu 37 2 201476122 201476122 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:201476122T>C uc002uvx.2 + 13 1270 c.1169T>C c.(1168-1170)ATT>ACT p.I390T AOX1_uc010zhf.1_Intron|AOX1_uc010fsu.2_Intron NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 390 FAD-binding PCMH-type. inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) AAACGACAGATTCCTTTAAAT 0.398 NA 68 102 0 0 0 0 AOX1 316 broad.mit.edu 37 2 201507394 201507394 + Missense_Mutation SNP G G A rs139407288 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:201507394G>A uc002uvx.2 + 25 2818 c.2717G>A c.(2716-2718)CGG>CAG p.R906Q AOX1_uc010zhf.1_Missense_Mutation_p.R462Q|AOX1_uc010fsu.2_Missense_Mutation_p.R272Q NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 906 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CTCCGCTGCCGGGGTTGGGCA 0.473 NA 22 37 0 0 0 0 MAP2 4133 broad.mit.edu 37 2 210545497 210545497 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:210545497C>T uc002vde.1 + 6 648 c.400C>T c.(400-402)CCT>TCT p.P134S MAP2_uc002vdc.1_Missense_Mutation_p.P134S|MAP2_uc002vdd.1_Missense_Mutation_p.P134S|MAP2_uc002vdf.1_Missense_Mutation_p.P134S|MAP2_uc002vdg.1_Missense_Mutation_p.P134S|MAP2_uc002vdh.1_Missense_Mutation_p.P134S|MAP2_uc002vdi.1_Missense_Mutation_p.P134S NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 134 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) AGCTAATCTGCCTCCTTCTCC 0.433 NA 88 147 0 0 0 0 ACADL 33 broad.mit.edu 37 2 211057583 211057583 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:211057583C>A uc002vdz.3 - 10 1372 c.1144G>T c.(1144-1146)GAC>TAC p.D382Y NM_001608 NP_001599 P28330 ACADL_HUMAN long-chain acyl-CoA dehydrogenase precursor 382 carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial matrix long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity 0 Renal(323;0.202) Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621) TGTACACAGTCGTAAGCTACA 0.373 NA 8 23 0.00307968 0.00617843 1 0 FN1 2335 broad.mit.edu 37 2 216248799 216248799 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:216248799G>T uc002vfa.2 - 30 5104 c.4838C>A c.(4837-4839)ACT>AAT p.T1613N FN1_uc002vfb.2_Missense_Mutation_p.T1522N|FN1_uc002vfc.2_Missense_Mutation_p.T1522N|FN1_uc002vfd.2_Missense_Mutation_p.T1613N|FN1_uc002vfe.2_Missense_Mutation_p.T1522N|FN1_uc002vff.2_Missense_Mutation_p.T1522N|FN1_uc002vfg.2_Missense_Mutation_p.T1522N|FN1_uc002vfh.2_Missense_Mutation_p.T1522N|FN1_uc002vfi.2_Missense_Mutation_p.T1613N|FN1_uc002vfj.2_Missense_Mutation_p.T1613N|FN1_uc002vez.2_Translation_Start_Site|FN1_uc010zjp.1_Missense_Mutation_p.T240N|FN1_uc010fvc.1_5'Flank|FN1_uc010fvd.1_5'Flank NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCCACGGCCAGTGACAGCATA 0.498 NA 37 57 4.47e-08 1.03e-07 1 0 CYP27A1 1593 broad.mit.edu 37 2 219677281 219677281 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:219677281G>T uc002viz.3 + 4 1087 c.653G>T c.(652-654)TGC>TTC p.C218F NM_000784 NP_000775 Q02318 CP27A_HUMAN cytochrome P450, family 27, subfamily A, 218 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) TCAGCTATTTGCTACATCCTG 0.547 NA 118 155 7.79e-71 2.26e-70 1 0 SPHKAP 80309 broad.mit.edu 37 2 228884716 228884716 + Missense_Mutation SNP C C G rs145402025 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:228884716C>G uc002vpq.2 - 7 901 c.854G>C c.(853-855)CGA>CCA p.R285P SPHKAP_uc002vpp.2_Missense_Mutation_p.R285P|SPHKAP_uc010zlx.1_Missense_Mutation_p.R285P NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 285 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TTCTGGAGATCGTTCTGTTTT 0.443 NA 73 137 0 0 0 0 CXCR7 57007 broad.mit.edu 37 2 237489774 237489774 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:237489774C>T uc010fyq.2 + 3 896 c.666C>T c.(664-666)GCC>GCT p.A222A CXCR7_uc002vwd.2_Silent_p.A222A NM_020311 NP_064707 P25106 CXCR7_HUMAN chemokine orphan receptor 1 222 Helical; Name=5; (Potential). interspecies interaction between organisms integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding large_intestine(1)|central_nervous_system(1)|skin(1) 3 Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223) Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118) TGGGCTTTGCCGTTCCCTTCT 0.567 NA 52 53 0 0 0 0 MLPH 79083 broad.mit.edu 37 2 238449173 238449173 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:238449173G>T uc002vwt.2 + 10 1514 c.1287G>T c.(1285-1287)CCG>CCT p.P429P MLPH_uc002vws.2_Silent_p.P286P|MLPH_uc010fyt.1_Silent_p.P401P|MLPH_uc002vwu.2_Silent_p.P401P|MLPH_uc002vwv.2_Silent_p.P361P|MLPH_uc002vww.2_Silent_p.P377P|MLPH_uc002vwx.2_Silent_p.P285P|MLPH_uc010fyu.2_Silent_p.P181P NM_024101 NP_077006 Q9BV36 MELPH_HUMAN melanophilin isoform 1 429 Potential. metal ion binding ovary(1) 1 Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203) Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316) AGGCGGACCCGGAGGTAAGAC 0.637 NA 13 9 5.51e-06 1.2e-05 1 0 ASB1 51665 broad.mit.edu 37 2 239344391 239344391 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:239344391C>T uc002vyg.2 + 3 317 c.231C>T c.(229-231)CTC>CTT p.L77L NM_001040445 NP_001035535 Q9Y576 ASB1_HUMAN ankyrin repeat and SOCS box-containing protein 77 ANK 2. intracellular signal transduction|negative regulation of cytokine biosynthetic process 0 all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644) GTGGCTGGCTCCCCTGCACAC 0.632 NA 15 23 0 0 0 0 HDAC4 9759 broad.mit.edu 37 2 240029767 240029767 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:240029767C>T uc002vyk.3 - 15 2868 c.2076G>A c.(2074-2076)ACG>ACA p.T692T HDAC4_uc010fyz.1_Silent_p.T687T|HDAC4_uc010zoa.1_Silent_p.T692T|HDAC4_uc010fza.2_Silent_p.T697T|HDAC4_uc010fyy.2_Silent_p.T649T|HDAC4_uc010znz.1_Silent_p.T575T NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 692 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|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)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) CCCGGAGGCCCGTCTCCTGCA 0.677 NA 11 20 0 0 0 0 CAPN10 11132 broad.mit.edu 37 2 241534551 241534551 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:241534551C>A uc002vzk.1 + 7 1292 c.1108C>A c.(1108-1110)CGG>AGG p.R370R CAPN10_uc010zoh.1_Silent_p.R370R|CAPN10_uc002vzl.1_Silent_p.R370R|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Silent_p.R242R|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron NM_023083 NP_075571 Q9HC96 CAN10_HUMAN calpain 10 isoform a 370 Domain III 1. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding ovary(3)|large_intestine(2)|lung(1) 6 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) ATTCTGGCTGCGGGTCTCAGA 0.672 NA 40 48 4.02e-15 1.03e-14 1 0 KIF1A 547 broad.mit.edu 37 2 241702653 241702653 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:241702653C>A uc002vzy.2 - 20 1998 c.1852G>T c.(1852-1854)GAC>TAC p.D618Y KIF1A_uc010fzk.2_Missense_Mutation_p.D627Y|KIF1A_uc002vzz.1_Missense_Mutation_p.D627Y NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 618 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) AAGGCCCAGTCCACAGGCTCA 0.652 NA 9 18 5.49e-09 1.28e-08 1 0 TMC2 117532 broad.mit.edu 37 20 2577848 2577848 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr20:2577848C>T uc002wgf.1 + 10 1143 c.1128C>T c.(1126-1128)TTC>TTT p.F376F TMC2_uc002wgg.1_Silent_p.F360F|TMC2_uc010zpw.1_Silent_p.F208F|TMC2_uc010zpx.1_Silent_p.F207F NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 376 Cytoplasmic (Potential). integral to membrane ovary(3) 3 GTGACAACTTCACATTCAGCT 0.507 NA 18 33 0 0 0 0 SLC4A11 83959 broad.mit.edu 37 20 3210334 3210334 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr20:3210334G>A uc002wig.2 - 13 1674 c.1626C>T c.(1624-1626)GCC>GCT p.A542A SLC4A11_uc010zqe.1_Silent_p.A569A|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Silent_p.A526A NM_032034 NP_114423 Q8NBS3 S4A11_HUMAN solute carrier family 4 member 11 542 Extracellular (Potential).|Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity ovary(1) 1 CGTTGAGGCTGGCGCCGAGGC 0.612 NA 26 26 0 0 0 0 SLC17A9 63910 broad.mit.edu 37 20 61594696 61594696 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr20:61594696C>T uc002yea.3 + 6 884 c.700C>T c.(700-702)CGG>TGG p.R234W SLC17A9_uc002ydz.3_Missense_Mutation_p.R228W|SLC17A9_uc011aap.1_Missense_Mutation_p.R254W NM_022082 NP_071365 Q9BYT1 S17A9_HUMAN vesicular nucleotide transporter SLC17A9 234 exocytosis|transmembrane transport integral to membrane transporter activity ovary(1)|skin(1) 2 CCCCTGGAGACGGCTCTTCCG 0.647 NA 16 19 0 0 0 0 TPTE 7179 broad.mit.edu 37 21 10910382 10910382 + Silent SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr21:10910382T>C uc002yip.1 - 22 1742 c.1374A>G c.(1372-1374)ACA>ACG p.T458T TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.T440T|TPTE_uc002yir.1_Silent_p.T420T|TPTE_uc010gkv.1_Silent_p.T320T NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 458 C2 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) TTTTGTCTGTTGTAATGTTAT 0.338 NA 6 107 0 0 0 0 TPTE 7179 broad.mit.edu 37 21 10969098 10969098 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr21:10969098G>T uc002yip.1 - 7 518 c.150C>A c.(148-150)GCC>GCA p.A50A TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Intron|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 50 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) GTGACACCCGGGCTGCTCCTT 0.328 NA 16 101 3.41e-10 8.22e-10 1 0 PFKL 5211 broad.mit.edu 37 21 45732884 45732884 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr21:45732884C>T uc002zel.2 + 5 510 c.451C>T c.(451-453)CGG>TGG p.R151W PFKL_uc002zek.2_Missense_Mutation_p.R198W|PFKL_uc011afd.1_Missense_Mutation_p.R198W NM_002626 NP_002617 P17858 K6PL_HUMAN liver phosphofructokinase 151 R -> W. fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding 0 Colorectal(79;0.0811) GACTACAGCCCGGACCTACTC 0.647 NA 18 37 0 0 0 0 KRTAP10-3 386682 broad.mit.edu 37 21 45978296 45978296 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr21:45978296C>T uc002zfj.1 - 1 348 c.303G>A c.(301-303)GTG>GTA p.V101V C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198696 NP_941969 P60369 KR103_HUMAN keratin associated protein 10-3 101 7.|18 X 5 AA repeats of C-C-X(3). keratin filament skin(1) 1 agcagacaggcacgcagcagg 0.189 NA 71 126 0 0 0 0 COL18A1 80781 broad.mit.edu 37 21 46912603 46912603 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr21:46912603C>A uc011afs.1 + 23 3456 c.3435C>A c.(3433-3435)GGC>GGA p.G1145G COL18A1_uc002zhg.2_Silent_p.G730G|COL18A1_uc002zhi.2_Silent_p.G910G NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 1145 Triple-helical region 5 (COL5). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) TTCCCCAGGGCCGGCCGGGTT 0.701 NA 25 48 7.42e-09 1.73e-08 1 0 PIWIL3 440822 broad.mit.edu 37 22 25119105 25119105 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr22:25119105C>A uc003abd.1 - 19 2793 c.2376G>T c.(2374-2376)AGG>AGT p.R792S PIWIL3_uc011ajx.1_Missense_Mutation_p.R674S|PIWIL3_uc011ajy.1_Missense_Mutation_p.R674S|PIWIL3_uc010gut.1_Missense_Mutation_p.R783S NM_001008496 NP_001008496 Q7Z3Z3 PIWL3_HUMAN piwi-like 3 792 Piwi. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding ovary(3)|central_nervous_system(1) 4 ACCATTCATTCCTAGTCAACT 0.338 NA 26 8 5.46e-16 1.41e-15 1 0 SMCR7L 54471 broad.mit.edu 37 22 39910115 39910115 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr22:39910115C>T uc003axx.2 + 6 1677 c.1179C>T c.(1177-1179)GCC>GCT p.A393A SMCR7L_uc003axw.2_Silent_p.A393A|SMCR7L_uc010gxz.1_Silent_p.A215A|SMCR7L_uc003axy.2_Silent_p.A215A NM_019008 NP_061881 Q9NQG6 SMC7L_HUMAN hypothetical protein LOC54471 393 integral to membrane|mitochondrion central_nervous_system(1) 1 Melanoma(58;0.04) TCCACTTGGCCCAGGAGGAGG 0.592 NA OREG0026577 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 11 0 0 0 0 SLC6A11 6538 broad.mit.edu 37 3 10858101 10858101 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:10858101G>C uc003bvz.2 + 1 185 c.151G>C c.(151-153)GGC>CGC p.G51R SLC6A11_uc003bvy.1_Missense_Mutation_p.G51R NM_014229 NP_055044 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter 51 Cytoplasmic (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.229) CCACGAGCGCGGCCACTGGAA 0.562 NA 3 4 0 0 0 0 XIRP1 165904 broad.mit.edu 37 3 39229740 39229740 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:39229740C>A uc003cjk.1 - 2 1418 c.1197G>T c.(1195-1197)GTG>GTT p.V399V XIRP1_uc003cji.2_Silent_p.V399V|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 399 actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GTAGGTGACCCACTTGGACCT 0.592 NA 60 53 1.28e-28 3.58e-28 1 0 ITIH3 3699 broad.mit.edu 37 3 52829637 52829637 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:52829637G>T uc003dfv.2 + 2 148 c.112G>T c.(112-114)GGG>TGG p.G38W ITIH3_uc011bek.1_Missense_Mutation_p.G38W NM_002217 NP_002208 Q06033 ITIH3_HUMAN inter-alpha (globulin) inhibitor H3 38 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CCTCCCGGAAGGGGTAAGAAC 0.567 NA 5 10 0.000157383 0.000327924 1 0 C3orf67 200844 broad.mit.edu 37 3 58817503 58817503 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:58817503T>C uc003dkt.1 - 13 1740 c.1331A>G c.(1330-1332)CAT>CGT p.H444R C3orf67_uc003dkr.1_RNA|C3orf67_uc003dks.1_Missense_Mutation_p.H385R|uc003dku.1_Intron NM_198463 NP_940865 Q6ZVT6 CC067_HUMAN hypothetical protein LOC200844 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 0 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) ACTCAGGCCATGGGAGGTCCC 0.542 NA 27 13 0 0 0 0 IFT57 55081 broad.mit.edu 37 3 107938307 107938307 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:107938307C>A uc003dwx.3 - 2 573 c.325G>T c.(325-327)GAT>TAT p.D109Y NM_018010 NP_060480 Q9NWB7 IFT57_HUMAN estrogen-related receptor beta like 1 109 activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cilium|microtubule basal body DNA binding|protein binding ovary(1)|skin(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246) TTAGGGTCATCATATTCTTGA 0.408 NA 19 11 6.94e-10 1.66e-09 1 0 VEPH1 79674 broad.mit.edu 37 3 157146252 157146252 + Silent SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:157146252T>C uc003fbj.1 - 5 872 c.555A>G c.(553-555)TTA>TTG p.L185L VEPH1_uc003fbk.1_Silent_p.L185L|VEPH1_uc010hvu.1_Silent_p.L185L NM_024621 NP_078897 Q14D04 MELT_HUMAN ventricular zone expressed PH domain homolog 1 185 plasma membrane breast(3)|ovary(1)|lung(1) 5 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) ACACAGCAGGTAACACTCTCA 0.428 NA 40 11 0 0 0 0 SI 6476 broad.mit.edu 37 3 164704993 164704993 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:164704993G>A uc003fei.2 - 45 5192 c.5130C>T c.(5128-5130)CTC>CTT p.L1710L NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1710 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CAGCAACAATGAGCTTCATGT 0.348 NA HNSCC(35;0.089) 51 16 0 0 0 0 SI 6476 broad.mit.edu 37 3 164741485 164741485 + Nonsense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:164741485G>T uc003fei.2 - 26 3034 c.2972C>A c.(2971-2973)TCA>TAA p.S991* NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 991 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ACCCATGGATGAATAGCGAGC 0.413 NA HNSCC(35;0.089) 17 26 3.46e-05 7.37e-05 1 0 SI 6476 broad.mit.edu 37 3 164766984 164766984 + Missense_Mutation SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:164766984A>G uc003fei.2 - 15 1708 c.1646T>C c.(1645-1647)GTG>GCG p.V549A NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 549 Lumenal.|Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CCAGTTCTGCACAGCATCCAT 0.338 NA HNSCC(35;0.089) 14 27 0 0 0 0 TRA2B 6434 broad.mit.edu 37 3 185636179 185636179 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:185636179C>A uc003fpv.2 - 8 1106 c.830G>T c.(829-831)CGT>CTT p.R277L TRA2B_uc003fpt.2_RNA|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_Missense_Mutation_p.R177L|TRA2B_uc003fpw.2_Missense_Mutation_p.R257L NM_004593 NP_004584 P62995 TRA2B_HUMAN splicing factor, arginine/serine-rich 10 277 Arg/Ser-rich (RS2 domain). nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|protein binding|RNA binding ovary(2) 2 AGATCTGGAACGTGATCTGTA 0.368 NA 21 50 1.96e-10 4.74e-10 1 0 KNG1 3827 broad.mit.edu 37 3 186450367 186450367 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:186450367G>T uc011bsa.1 + 7 1046 c.834G>T c.(832-834)CTG>CTT p.L278L KNG1_uc003fqr.2_Silent_p.L278L NM_001102416 NP_001095886 P01042 KNG1_HUMAN kininogen 1 isoform 1 278 Cystatin 3. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding skin(1) 1 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) GCCCAGAGCTGGAGGAGACAC 0.443 NA 10 110 4.69e-08 1.08e-07 1 0 OSTN 344901 broad.mit.edu 37 3 190936696 190936696 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr3:190936696G>A uc011bsn.1 + 2 263 c.263G>A c.(262-264)GGG>GAG p.G88E NM_198184 NP_937827 P61366 OSTN_HUMAN osteocrin precursor 88 cell differentiation|multicellular organismal development|ossification hormone activity pancreas(1)|skin(1) 2 all_cancers(143;6.79e-09)|Ovarian(172;0.103) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000254) TCTGGTTTTGGGTCTCCCCTT 0.398 NA 23 26 0 0 0 0 STK32B 55351 broad.mit.edu 37 4 5458560 5458560 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:5458560G>A uc003gih.1 + 8 757 c.693G>A c.(691-693)ACG>ACA p.T231T STK32B_uc010ida.1_Silent_p.T184T NM_018401 NP_060871 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 231 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 ACTCGGTCACGCCCATCGATG 0.532 NA 10 6 0 0 0 0 GABRA2 2555 broad.mit.edu 37 4 46252554 46252554 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:46252554G>C uc003gxc.3 - 9 1800 c.1127C>G c.(1126-1128)CCG>CGG p.P376R GABRA2_uc010igc.2_Missense_Mutation_p.P376R|GABRA2_uc011bzc.1_Missense_Mutation_p.P381R NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 376 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGAAAGATTCGGGGCATAATT 0.418 NA 60 35 0 0 0 0 UGT2A1 10941 broad.mit.edu 37 4 70513215 70513215 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:70513215C>T uc003hem.3 - 1 211 c.148G>A c.(148-150)GTG>ATG p.V50M UGT2A1_uc011caq.1_Missense_Mutation_p.V50M|UGT2A1_uc010ihu.2_Missense_Mutation_p.V50M|UGT2A1_uc010iht.2_Missense_Mutation_p.V50M NM_006798 NP_006789 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, 50 Extracellular (Potential). detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity|glucuronosyltransferase activity ovary(1) 1 AGGACAGTCACATTATGCTCC 0.393 NA 17 24 0 0 0 0 ODAM 54959 broad.mit.edu 37 4 71068636 71068636 + Splice_Site SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:71068636T>C uc003hfc.2 + 9 827 c.810_splice c.e9+2 p.K270_splice NM_017855 NP_060325 A1E959 ODAM_HUMAN odontogenic ameloblast-associated protein biomineral tissue development|odontogenesis of dentine-containing tooth fibril ovary(3)|large_intestine(1) 4 GAAGAGAAGGTAGAGTCATGA 0.353 NA 13 11 0 0 0 0 SMR3A 26952 broad.mit.edu 37 4 71232484 71232484 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:71232484C>A uc003hfg.1 + 3 259 c.178C>A c.(178-180)CCA>ACA p.P60T SMR3B_uc011cas.1_Intron NM_012390 NP_036522 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3 60 Pro-rich. extracellular region 0 all_hematologic(202;0.196) ACCCTATGGTCCAGGGAGATT 0.557 NA 17 90 2.35e-11 5.78e-11 1 0 SHROOM3 57619 broad.mit.edu 37 4 77660612 77660612 + Missense_Mutation SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:77660612A>G uc011cbx.1 + 5 2239 c.1286A>G c.(1285-1287)GAG>GGG p.E429G SHROOM3_uc011cbz.1_Missense_Mutation_p.E253G|SHROOM3_uc003hkf.1_Missense_Mutation_p.E304G|SHROOM3_uc003hkg.2_Missense_Mutation_p.E207G NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 429 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding skin(2)|ovary(1) 3 Lung(101;0.0903) CCATTCATAGAGGAGCAGCTG 0.577 NA 21 47 0 0 0 0 RAP1GDS1 5910 broad.mit.edu 37 4 99337959 99337959 + Missense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:99337959A>T uc003htx.3 + 8 1017 c.827A>T c.(826-828)CAA>CTA p.Q276L RAP1GDS1_uc003htw.3_Missense_Mutation_p.Q277L|RAP1GDS1_uc003htv.3_Missense_Mutation_p.Q277L|RAP1GDS1_uc003htz.3_Missense_Mutation_p.Q227L|RAP1GDS1_uc003hty.3_Missense_Mutation_p.Q228L|RAP1GDS1_uc003hua.3_Missense_Mutation_p.Q185L NM_001100427 NP_001093897 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 isoform 276 binding|GTPase activator activity ovary(1)|lung(1)|breast(1) 3 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) ATTGTTCAGCAAAAAGTGGAT 0.363 NA T NUP98 T-ALL 22 11 0 0 0 0 FBXW7 55294 broad.mit.edu 37 4 153247288 153247288 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:153247288C>A uc003ims.2 - 10 1663 c.1514G>T c.(1513-1515)CGC>CTC p.R505L FBXW7_uc011cii.1_Missense_Mutation_p.R505L|FBXW7_uc003imt.2_Missense_Mutation_p.R505L|FBXW7_uc011cih.1_Missense_Mutation_p.R329L|FBXW7_uc003imq.2_Missense_Mutation_p.R425L|FBXW7_uc003imr.2_Missense_Mutation_p.R387L NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 505 WD 4. R -> L (in an ovarian cancer cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding p.R505C(35)|p.R505L(7)|p.R505G(2)|p.R505H(2)|p.R266L(1)|p.R505S(1)|p.R505P(1)|p.R425L(1) haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TTGAACACAGCGGACTGCTGC 0.468 NA Mis|N|D|F colorectal|endometrial|T-ALL 37 26 4.11e-13 1.04e-12 1 0 DCHS2 54798 broad.mit.edu 37 4 155161859 155161859 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:155161859G>T uc003inw.2 - 23 5824 c.5824C>A c.(5824-5826)CAG>AAG p.Q1942K NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1942 Cadherin 17. 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) CCAGTGTTCTGATCAATAGCA 0.383 NA 26 24 7.44e-23 2.01e-22 1 0 FSTL5 56884 broad.mit.edu 37 4 162841698 162841698 + Nonsense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:162841698A>T uc003iqh.2 - 4 703 c.267T>A c.(265-267)TGT>TGA p.C89* FSTL5_uc003iqi.2_Nonsense_Mutation_p.C88*|FSTL5_uc010iqv.2_Nonsense_Mutation_p.C88* NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 89 Kazal-like. extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) AAAGGTCCATACAGGCACATT 0.458 NA 13 5 0 0 0 0 CTNND2 1501 broad.mit.edu 37 5 11082811 11082811 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:11082811T>C uc003jfa.1 - 16 2930 c.2785A>G c.(2785-2787)ATC>GTC p.I929V CTNND2_uc010itt.2_Missense_Mutation_p.I838V|CTNND2_uc011cmy.1_Missense_Mutation_p.I592V|CTNND2_uc011cmz.1_Missense_Mutation_p.I496V|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.I521V NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 929 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 AACATACCGATGAGCTCCTTA 0.507 NA 137 104 0 0 0 0 CDH9 1007 broad.mit.edu 37 5 26903843 26903843 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:26903843G>A uc003jgs.1 - 6 1071 c.902C>T c.(901-903)GCA>GTA p.A301V CDH9_uc010iug.2_Missense_Mutation_p.A301V NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 301 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 CTCCATTTCTGCATTTTCCCC 0.413 NA 84 176 0 0 0 0 RXFP3 51289 broad.mit.edu 37 5 33937868 33937868 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:33937868C>A uc003jic.1 + 1 1380 c.1023C>A c.(1021-1023)CCC>CCA p.P341P NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 341 Helical; Name=6; (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 GTTGGCTGCCCAACCAGGCGC 0.602 NA 36 70 6.91e-12 1.71e-11 1 0 SPEF2 79925 broad.mit.edu 37 5 35654677 35654677 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:35654677C>A uc003jjo.2 + 7 938 c.827C>A c.(826-828)ACA>AAA p.T276K SPEF2_uc003jjn.1_Missense_Mutation_p.T276K|SPEF2_uc003jjq.3_Missense_Mutation_p.T276K NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 276 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCAGGCCAGACAACCACCGAT 0.348 NA 21 42 5.35e-11 1.31e-10 1 0 SPEF2 79925 broad.mit.edu 37 5 35727888 35727888 + Nonsense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:35727888C>A uc003jjo.2 + 21 3137 c.3026C>A c.(3025-3027)TCA>TAA p.S1009* SPEF2_uc003jjp.1_Nonsense_Mutation_p.S495* NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1009 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAGCCAGGATCAGAAGAATGG 0.428 NA 93 62 3.37e-40 9.73e-40 1 0 FBXO4 26272 broad.mit.edu 37 5 41939628 41939628 + Silent SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:41939628A>G uc003jmq.2 + 6 1040 c.984A>G c.(982-984)TTA>TTG p.L328L FBXO4_uc003jmr.2_Intron NM_012176 NP_036308 Q9UKT5 FBX4_HUMAN F-box only protein 4 isoform 1 328 positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity liver(1) 1 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) TGTTGGTTTTATCTTGTATTT 0.393 NA 57 145 0 0 0 0 PDE4D 5144 broad.mit.edu 37 5 58287799 58287799 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:58287799T>A uc003jsa.2 - 8 1220 c.1048A>T c.(1048-1050)ACT>TCT p.T350S PDE4D_uc003jrx.2_Missense_Mutation_p.T214S|PDE4D_uc003jry.2_Missense_Mutation_p.T48S|PDE4D_uc003jrz.2_Missense_Mutation_p.T286S|PDE4D_uc003jsb.2_Missense_Mutation_p.T289S|PDE4D_uc003jrt.2_Missense_Mutation_p.T48S|PDE4D_uc003jru.2_Missense_Mutation_p.T126S|PDE4D_uc003jrv.2_Missense_Mutation_p.T220S|PDE4D_uc003jrw.2_Missense_Mutation_p.T228S|PDE4D_uc003jrs.2_Missense_Mutation_p.T59S NM_001104631 NP_001098101 Q08499 PDE4D_HUMAN phosphodiesterase 4D isoform 1 350 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1) 2 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) TCCTTCTGAGTTGGAGAAGGA 0.318 NA 7 1 0 0 0 0 SERINC5 256987 broad.mit.edu 37 5 79498804 79498804 + Silent SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:79498804G>C uc003kgj.2 - 2 225 c.96C>G c.(94-96)TCC>TCG p.S32S SERINC5_uc003kgk.2_Silent_p.S32S|SERINC5_uc003kgl.2_RNA|SERINC5_uc003kgm.2_Silent_p.S32S|SERINC5_uc011ctj.1_Silent_p.S32S NM_178276 NP_840060 Q86VE9 SERC5_HUMAN developmentally regulated protein TPO1 32 Extracellular (Potential). phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity endoplasmic reticulum membrane|integral to membrane ovary(1) 1 Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34) GGGTGCTGAGGGACTGCCGAA 0.552 NA 7 5 0 0 0 0 GPR98 84059 broad.mit.edu 37 5 89933676 89933676 + Missense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:89933676A>T uc003kju.2 + 11 2247 c.2151A>T c.(2149-2151)TTA>TTT p.L717F GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 717 Calx-beta 5.|Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTTTGTTTTTATCTGGGCAAA 0.418 NA 23 14 0 0 0 0 APC 324 broad.mit.edu 37 5 112175215 112175215 + Silent SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:112175215A>G uc010jby.2 + 16 4304 c.3924A>G c.(3922-3924)AAA>AAG p.K1308K APC_uc011cvt.1_Silent_p.K1290K|APC_uc003kpz.3_Silent_p.K1308K|APC_uc003kpy.3_Silent_p.K1308K|APC_uc010jbz.2_Silent_p.K1025K|APC_uc010jca.2_Silent_p.K608K NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1308 Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.E1309fs*6(50)|p.E1309fs*4(32)|p.I1307fs*6(12)|p.K1308*(6)|p.?(1)|p.E1309fs*5(1)|p.K1192fs*3(1)|p.K1308E(1)|p.K1308fs*4(1)|p.K1308fs*6(1)|p.I1307fs*13(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) CAGAAATAAAAGAAAAGATTG 0.428 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 30 6 0 0 0 0 ADAMTS19 171019 broad.mit.edu 37 5 129037215 129037215 + Missense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:129037215A>T uc003kvb.1 + 20 3071 c.3071A>T c.(3070-3072)AAG>ATG p.K1024M ADAMTS19_uc010jdh.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 1024 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) ATTGGGCCCAAGCCCGCCTCT 0.577 NA 18 17 0 0 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176493 140176493 + Silent SNP C C T rs140366950 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:140176493C>T uc003lhd.2 + 1 2050 c.1944C>T c.(1942-1944)CTC>CTT p.L648L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.L648L|PCDHA2_uc011czy.1_Silent_p.L648L NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 648 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCGCCTACTCGTGCTGGTGA 0.652 NA 48 16 0 0 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140788253 140788253 + Missense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:140788253A>T uc003lkj.1 + 1 484 c.484A>T c.(484-486)ATA>TTA p.I162L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.I162L NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 162 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGATCCTGATATAAACATAAA 0.363 NA 12 5 0 0 0 0 DOCK2 1794 broad.mit.edu 37 5 169461490 169461490 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:169461490G>A uc003maf.2 + 35 3635 c.3555G>A c.(3553-3555)CTG>CTA p.L1185L DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.L677L NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1185 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGAGAAGCTGCTGGATTACC 0.587 NA 23 13 0 0 0 0 TXNDC5 81567 broad.mit.edu 37 6 7884653 7884653 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:7884653G>A uc003mxv.2 - 9 1147 c.1115C>T c.(1114-1116)GCG>GTG p.A372V TXNDC5_uc003mxw.2_Missense_Mutation_p.A329V|TXNDC5_uc010jnz.2_Missense_Mutation_p.A264V NM_030810 NP_110437 Q8NBS9 TXND5_HUMAN thioredoxin domain containing 5 isoform 1 372 Thioredoxin 3. anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport endoplasmic reticulum lumen|lysosomal lumen electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity 0 Ovarian(93;0.0398) CTTGACCCCCGCCAGACCAGG 0.488 NA 41 104 0 0 0 0 OR14J1 442191 broad.mit.edu 37 6 29274874 29274874 + Silent SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:29274874C>G uc011dln.1 + 1 408 c.408C>G c.(406-408)CCC>CCG p.P136P NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN olfactory receptor, family 5, subfamily U member 136 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TTATGGATCCCCGTGCCTGTA 0.502 NA 58 136 0 0 0 0 OR10C1 442194 broad.mit.edu 37 6 29408338 29408338 + Silent SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:29408338T>A uc011dlp.1 + 1 546 c.546T>A c.(544-546)CCT>CCA p.P182P OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, 182 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGATCCAGCCTGTCCTGCAGC 0.582 NA 62 168 0 0 0 0 TRIM39 56658 broad.mit.edu 37 6 30297214 30297214 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:30297214C>T uc010jrz.2 + 3 432 c.120C>T c.(118-120)GTC>GTT p.V40V HCG18_uc003npx.2_5'Flank|HCG18_uc003npy.2_5'Flank|TRIM39_uc003npz.2_Silent_p.V40V|TRIM39_uc003nqb.2_Silent_p.V40V|TRIM39_uc003nqc.2_Silent_p.V40V|TRIM39_uc010jsa.1_Silent_p.V40V NM_021253 NP_067076 Q9HCM9 TRI39_HUMAN tripartite motif-containing 39 isoform 1 40 RING-type. apoptosis cytosol|mitochondrion identical protein binding|zinc ion binding ovary(3) 3 AGGAACCTGTCATCATTGAGT 0.562 NA 141 114 0 0 0 0 DHX16 8449 broad.mit.edu 37 6 30627269 30627269 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:30627269T>A uc003nqz.2 - 12 2199 c.1987A>T c.(1987-1989)ACA>TCA p.T663S DHX16_uc003nqy.2_Missense_Mutation_p.T182S|DHX16_uc011dmo.1_Missense_Mutation_p.T603S NM_003587 NP_003578 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 663 Helicase C-terminal. mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity ovary(2)|kidney(2) 4 CCAGGTGGTGTGGGCTGGAAG 0.582 NA 9 7 0 0 0 0 MICB 4277 broad.mit.edu 37 6 31477636 31477636 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:31477636C>G uc003ntn.3 + 6 1218 c.1102C>G c.(1102-1104)CAG>GAG p.Q368E MICB_uc011dnm.1_Missense_Mutation_p.Q336E|MICB_uc003nto.3_Missense_Mutation_p.Q325E NM_005931 NP_005922 Q29980 MICB_HUMAN MHC class I polypeptide-related sequence B 368 Cytoplasmic (Potential). antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding 0 GCTGGGATTTCAGCCTCTGAT 0.577 NA 68 55 0 0 0 0 C6orf27 80737 broad.mit.edu 37 6 31743183 31743183 + Nonsense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:31743183C>T uc011dog.1 - 4 775 c.537G>A c.(535-537)TGG>TGA p.W179* C6orf27_uc003nxd.2_5'UTR|C6orf27_uc011doh.1_RNA NM_025258 NP_079534 Q9Y334 G7C_HUMAN G7c protein precursor 179 extracellular region ovary(3) 3 CCAGCTCCACCCAGTTGCTAT 0.587 NA 35 20 0 0 0 0 DNAH8 1769 broad.mit.edu 37 6 38851748 38851748 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:38851748C>A uc003ooe.1 + 54 8182 c.7582C>A c.(7582-7584)CCT>ACT p.P2528T NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TATTAATATGCCTGTGATTAA 0.328 NA 12 20 0.00010058 0.000211381 1 0 DNAH8 1769 broad.mit.edu 37 6 38919096 38919096 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:38919096C>A uc003ooe.1 + 80 12200 c.11600C>A c.(11599-11601)TCT>TAT p.S3867Y DNAH8_uc003oog.1_Missense_Mutation_p.S316Y|uc003oof.1_Intron NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 ATTTTTAGGTCTTGGTGCCCA 0.338 NA 39 61 9.63e-15 2.46e-14 1 0 HSP90AB1 3326 broad.mit.edu 37 6 44219990 44219990 + Nonsense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:44219990A>T uc003oxa.1 + 10 1801 c.1717A>T c.(1717-1719)AAG>TAG p.K573* HSP90AB1_uc011dvr.1_Nonsense_Mutation_p.K563*|HSP90AB1_uc003oxb.1_Nonsense_Mutation_p.K573*|HSP90AB1_uc011dvs.1_Nonsense_Mutation_p.K393*|HSP90AB1_uc003oxc.1_Nonsense_Mutation_p.K211* NM_007355 NP_031381 P08238 HS90B_HUMAN heat shock 90kDa protein 1, beta 573 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding lung(3)|breast(1) 4 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AATCTTAGATAAGAAGGTTGA 0.443 NA 19 31 0 0 0 0 ENPP4 22875 broad.mit.edu 37 6 46108938 46108938 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:46108938C>T uc003oxy.2 + 3 1235 c.976C>T c.(976-978)CTA>TTA p.L326L NM_014936 NP_055751 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 326 Extracellular (Potential). integral to membrane hydrolase activity ovary(3)|skin(1) 4 GACAATTGTGCTAAATGAATC 0.338 NA 19 19 0 0 0 0 PKHD1 5314 broad.mit.edu 37 6 51484071 51484071 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:51484071C>T uc003pah.1 - 67 12309 c.12033G>A c.(12031-12033)CTG>CTA p.L4011L NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 4011 Cytoplasmic (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TTTGGCCTGCCAGCTGGTATC 0.567 NA 30 43 0 0 0 0 HCRTR2 3062 broad.mit.edu 37 6 55120039 55120039 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:55120039C>T uc003pcl.2 + 3 823 c.508C>T c.(508-510)CGT>TGT p.R170C HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.R105C NM_001526 NP_001517 O43614 OX2R_HUMAN orexin receptor 2 170 Cytoplasmic (Potential). feeding behavior integral to plasma membrane neuropeptide receptor activity ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1) 6 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AAAGCGGGCCCGTAACAGCAT 0.502 NA 32 48 0 0 0 0 C6orf165 154313 broad.mit.edu 37 6 88127994 88127994 + Silent SNP C C A rs140079201 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:88127994C>A uc003plv.2 + 7 792 c.700C>A c.(700-702)CGG>AGG p.R234R C6orf165_uc003plw.2_Silent_p.R46R|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Silent_p.R234R NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 234 central_nervous_system(1) 1 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) TGAGACTGCCCGGAGCCAGGT 0.488 NA 22 37 7.45e-12 1.84e-11 1 0 FUT9 10690 broad.mit.edu 37 6 96651430 96651430 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:96651430G>C uc003pop.3 + 3 740 c.399G>C c.(397-399)TGG>TGC p.W133C NM_006581 NP_006572 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) 133 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity skin(4)|ovary(1) 5 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) AATGGATTTGGATGAATTTGG 0.458 NA 15 25 0 0 0 0 FUT9 10690 broad.mit.edu 37 6 96651555 96651555 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:96651555C>G uc003pop.3 + 3 865 c.524C>G c.(523-525)ACA>AGA p.T175R NM_006581 NP_006572 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) 175 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity skin(4)|ovary(1) 5 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) ACGGTAAGCACAAATCCCTTC 0.463 NA 18 38 0 0 0 0 C6orf204 387119 broad.mit.edu 37 6 118802981 118802981 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:118802981T>A uc003pxz.1 - 8 2294 c.1706A>T c.(1705-1707)CAG>CTG p.Q569L C6orf204_uc003pya.1_Missense_Mutation_p.Q572L NM_001042475 NP_001035940 Q5SZL2 CF204_HUMAN chromosome 6 open reading frame 204 isoform a 569 Potential. centrosome breast(1) 1 all_cancers(87;0.0814)|all_epithelial(87;0.115) GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618) TTTCTTTTTCTGGCATATTAA 0.269 NA 6 15 0 0 0 0 PTPRK 5796 broad.mit.edu 37 6 128385930 128385930 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:128385930T>A uc003qbk.2 - 13 2534 c.2167A>T c.(2167-2169)ACC>TCC p.T723S PTPRK_uc003qbj.2_Missense_Mutation_p.T723S|PTPRK_uc010kfc.2_Missense_Mutation_p.T723S|PTPRK_uc011ebu.1_Missense_Mutation_p.T723S|PTPRK_uc003qbl.1_Missense_Mutation_p.T593S|PTPRK_uc011ebv.1_Missense_Mutation_p.T723S NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 723 Extracellular (Potential). cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) ACGCACTGGGTTTTAGTTTCC 0.343 NA 17 37 0 0 0 0 LAMA2 3908 broad.mit.edu 37 6 129419489 129419489 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:129419489T>C uc003qbn.2 + 4 673 c.568T>C c.(568-570)TCA>CCA p.S190P LAMA2_uc003qbo.2_Missense_Mutation_p.S190P NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 190 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGGGCCACCGTCATATGCCAA 0.443 NA 31 40 0 0 0 0 ENPP1 5167 broad.mit.edu 37 6 132203596 132203596 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:132203596G>C uc011ecf.1 + 21 2232 c.2212G>C c.(2212-2214)GGG>CGG p.G738R NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 738 Nuclease.|Extracellular (Potential). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) AGTGAGTTACGGGTTCCTCTC 0.383 NA 35 56 0 0 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597402 136597402 + Nonsense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:136597402T>A uc003qgx.1 - 5 1514 c.1261A>T c.(1261-1263)AAA>TAA p.K421* BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Nonsense_Mutation_p.K419*|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Nonsense_Mutation_p.K419* NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 421 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GCAAAACTTTTACCCTGATCT 0.423 NA 97 225 0 0 0 0 VTA1 51534 broad.mit.edu 37 6 142487415 142487415 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:142487415G>A uc003qiw.2 + 2 178 c.163G>A c.(163-165)GAA>AAA p.E55K VTA1_uc011edt.1_RNA|VTA1_uc011edu.1_Intron NM_016485 NP_057569 Q9NP79 VTA1_HUMAN Vps20-associated 1 homolog 55 Interaction with CHMP5.|Interaction with IST1. cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding 0 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) TAAAACTCCTGAATGTCGCAA 0.299 NA 21 32 0 0 0 0 STX11 8676 broad.mit.edu 37 6 144507960 144507960 + Nonsense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:144507960G>T uc003qks.3 + 2 388 c.196G>T c.(196-198)GGA>TGA p.G66* NM_003764 NP_003755 O75558 STX11_HUMAN syntaxin 11 66 Potential. cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) GAAGCGGCTGGGAAAGCAGAA 0.622 NA Familial_Hemophagocytic_Lymphohistiocytosis 12 18 4.85e-15 1.24e-14 1 0 GRM1 2911 broad.mit.edu 37 6 146720539 146720539 + Silent SNP G G C rs114187147 byFrequency TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:146720539G>C uc010khw.1 + 8 2834 c.2364G>C c.(2362-2364)GCG>GCC p.A788A GRM1_uc010khv.1_Silent_p.A788A|GRM1_uc003qll.2_Silent_p.A788A|GRM1_uc011edz.1_Silent_p.A788A|GRM1_uc011eea.1_Silent_p.A788A NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 788 Helical; Name=6; (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) AATATATCGCGTTCACCATGT 0.488 NA 48 73 0 0 0 0 GRM1 2911 broad.mit.edu 37 6 146755774 146755774 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:146755774C>T uc010khw.1 + 9 3897 c.3427C>T c.(3427-3429)CCT>TCT p.P1143S GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 1143 Ser-rich.|Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GGATGATTCGCCTGCGCTGAC 0.662 NA 41 45 0 0 0 0 FNDC1 84624 broad.mit.edu 37 6 159677661 159677661 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:159677661G>T uc010kjv.2 + 18 5372 c.5172G>T c.(5170-5172)ACG>ACT p.T1724T NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1724 Fibronectin type-III 5. extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) AGCCCAACACGAGGTACGATG 0.423 NA 53 72 1.39e-30 3.91e-30 1 0 CRHR2 1395 broad.mit.edu 37 7 30701809 30701809 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr7:30701809C>A uc003tbn.2 - 7 965 c.721G>T c.(721-723)GCC>TCC p.A241S CRHR2_uc010kvw.1_Missense_Mutation_p.A241S|CRHR2_uc010kvx.1_Missense_Mutation_p.A240S|CRHR2_uc010kvy.1_Missense_Mutation_p.A77S|CRHR2_uc003tbo.2_Missense_Mutation_p.A227S|CRHR2_uc003tbp.2_Missense_Mutation_p.A268S NM_001883 NP_001874 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 241 Helical; Name=4; (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding lung(2)|ovary(1)|skin(1) 4 ATGGCCCAGGCGACGATGATG 0.562 NA 35 52 5.72e-15 1.46e-14 1 0 ANLN 54443 broad.mit.edu 37 7 36462289 36462289 + Nonsense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr7:36462289G>T uc003tff.2 + 14 2551 c.2347G>T c.(2347-2349)GAA>TAA p.E783* ANLN_uc011kaz.1_Nonsense_Mutation_p.E695*|ANLN_uc003tfg.2_Nonsense_Mutation_p.E746*|ANLN_uc010kxe.2_Nonsense_Mutation_p.E745* NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 783 Localization to the cleavage furrow. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding ovary(2)|skin(1) 3 ATTGAAGAACGAAGGACCTCA 0.363 NA 8 87 0.00448238 0.00896476 1 0 POM121L12 285877 broad.mit.edu 37 7 53103797 53103797 + Nonsense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr7:53103797G>T uc003tpz.2 + 1 449 c.433G>T c.(433-435)GAG>TAG p.E145* NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 145 0 CGCGCCCCCTGAGCGTCAGGA 0.577 NA 11 24 1.58e-08 3.68e-08 1 0 ZNF107 51427 broad.mit.edu 37 7 64168848 64168848 + Missense_Mutation SNP T T G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr7:64168848T>G uc003ttd.2 + 7 2952 c.2166T>G c.(2164-2166)TGT>TGG p.C722W ZNF107_uc003tte.2_Missense_Mutation_p.C722W NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 722 C2H2-type 24. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) CCTACAAATGTGAAGAATGTG 0.348 NA 10 11 0 0 0 0 ZNF273 10793 broad.mit.edu 37 7 64388382 64388382 + Missense_Mutation SNP A A G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr7:64388382A>G uc003tto.2 + 4 752 c.676A>G c.(676-678)AAA>GAA p.K226E ZNF273_uc003ttl.2_Missense_Mutation_p.K161E|ZNF273_uc003ttn.2_Missense_Mutation_p.K161E NM_021148 NP_066971 Q14593 ZN273_HUMAN zinc finger protein 273 226 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(55;0.0295)|all_lung(88;0.0691) TCAGCATAAGAAAACTGCTAC 0.313 NA 36 32 0 0 0 0 ZSCAN21 7589 broad.mit.edu 37 7 99654694 99654694 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr7:99654694G>A uc003uso.2 + 2 209 c.65G>A c.(64-66)GGG>GAG p.G22E ZSCAN21_uc011kje.1_Missense_Mutation_p.G21E|ZSCAN21_uc003usn.1_Missense_Mutation_p.G21E NM_145914 NP_666019 Q9Y5A6 ZSC21_HUMAN zinc finger protein 38 22 positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) GAGCAGGTGGGGCCTCTGATG 0.537 NA 79 44 0 0 0 0 IQUB 154865 broad.mit.edu 37 7 123092911 123092911 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr7:123092911C>A uc003vkn.2 - 13 2839 c.2262G>T c.(2260-2262)CAG>CAT p.Q754H IQUB_uc011kny.1_Missense_Mutation_p.Q87H|IQUB_uc003vko.2_Missense_Mutation_p.Q754H|IQUB_uc010lkt.2_RNA NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 754 ovary(3)|large_intestine(1) 4 GCACTGGAACCTGAGAAAAAT 0.348 NA 12 5 1.5e-05 3.22e-05 1 0 PLXNA4 91584 broad.mit.edu 37 7 131831391 131831391 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr7:131831391G>C uc003vra.3 - 28 5162 c.4933C>G c.(4933-4935)CTG>GTG p.L1645V PLXNA4_uc003vqz.3_5'Flank NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1645 Cytoplasmic (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 CCACTCTCCAGGTCAGGAGTG 0.577 NA 85 50 0 0 0 0 LRGUK 136332 broad.mit.edu 37 7 133884049 133884049 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr7:133884049G>C uc003vrm.1 + 14 1639 c.1623G>C c.(1621-1623)GAG>GAC p.E541D NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 541 Guanylate kinase-like. ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 AAAAATATGAGGGATATTTGC 0.363 NA 39 25 0 0 0 0 LONRF1 91694 broad.mit.edu 37 8 12586411 12586411 + Missense_Mutation SNP T T G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:12586411T>G uc003wwd.1 - 10 2072 c.2009A>C c.(2008-2010)AAG>ACG p.K670T LONRF1_uc011kxv.1_Missense_Mutation_p.K259T|LONRF1_uc010lsp.1_Missense_Mutation_p.K270T NM_152271 NP_689484 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 670 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding ovary(1) 1 READ - Rectum adenocarcinoma(644;0.236) TTAAAATACCTTAACATCTTC 0.403 NA 28 47 0 0 0 0 UNC5D 137970 broad.mit.edu 37 8 35542267 35542267 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:35542267G>T uc003xjr.1 + 6 1247 c.919G>T c.(919-921)GTG>TTG p.V307L UNC5D_uc003xjs.1_Missense_Mutation_p.V302L|UNC5D_uc003xjt.1_Missense_Mutation_p.V76L NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 307 Extracellular (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TCTTTGTCCTGGTGAGATATA 0.463 NA 24 44 6.36e-07 1.42e-06 1 0 PROSC 11212 broad.mit.edu 37 8 37623867 37623867 + Silent SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:37623867T>C uc003xkh.2 + 4 390 c.313T>C c.(313-315)TTG>CTG p.L105L NM_007198 NP_009129 O94903 PROSC_HUMAN proline synthetase co-transcribed homolog 105 pyridoxal phosphate binding central_nervous_system(1) 1 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) L-Proline(DB00172)|Pyridoxal Phosphate(DB00114) TGTCAACAAATTGATGGGTAA 0.363 NA 53 65 0 0 0 0 PRKDC 5591 broad.mit.edu 37 8 48697683 48697683 + Nonsense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:48697683C>A uc003xqi.2 - 78 11155 c.11098G>T c.(11098-11100)GAG>TAG p.E3700* PRKDC_uc003xqj.2_Nonsense_Mutation_p.E3700*|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 3700 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CCGGGAATCTCCAGCTCATTT 0.453 NA NHEJ 23 32 3.01e-09 7.14e-09 1 0 RP1 6101 broad.mit.edu 37 8 55538955 55538955 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:55538955C>T uc003xsd.1 + 4 2661 c.2513C>T c.(2512-2514)TCT>TTT p.S838F RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 838 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GCACCGCAATCTCAAGCAGAA 0.313 NA 22 32 0 0 0 0 RP1 6101 broad.mit.edu 37 8 55542017 55542017 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:55542017C>G uc003xsd.1 + 4 5723 c.5575C>G c.(5575-5577)CAG>GAG p.Q1859E RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1859 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GGGTAGTCATCAGTCAGAAAG 0.418 NA 24 20 0 0 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88886016 88886016 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:88886016G>A uc003ydz.2 - 1 281 c.184C>T c.(184-186)CAT>TAT p.H62Y NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 62 ovary(1) 1 TCCCAGCTATGAATCTGGACC 0.512 NA 39 50 0 0 0 0 RUNX1T1 862 broad.mit.edu 37 8 93003886 93003886 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:93003886C>T uc003yfd.2 - 6 1056 c.972G>A c.(970-972)AGG>AGA p.R324R RUNX1T1_uc003yfc.1_Silent_p.R297R|RUNX1T1_uc003yfe.1_Silent_p.R287R|RUNX1T1_uc010mao.2_Silent_p.R297R|RUNX1T1_uc011lgi.1_Silent_p.R335R|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Silent_p.R287R NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 324 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) TGTTTCTGTCCCTGAGGTCCC 0.512 NA 51 107 0 0 0 0 UBR5 51366 broad.mit.edu 37 8 103297762 103297762 + Nonsense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:103297762G>C uc003ykr.1 - 39 5496 c.5463C>G c.(5461-5463)TAC>TAG p.Y1821* UBR5_uc003yks.1_Nonsense_Mutation_p.Y1821* NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 1821 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CTGCATCTTGGTAAGTCAATT 0.373 NA 11 69 0 0 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110489571 110489571 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:110489571C>T uc003yne.2 + 53 9139 c.9035C>T c.(9034-9036)CCT>CTT p.P3012L NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3012 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GATTGCTTTCCTGTACATCCG 0.408 NA HNSCC(38;0.096) 23 33 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113259248 113259248 + Splice_Site SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:113259248C>A uc003ynu.2 - 64 10381 c.10222_splice c.e64+1 p.P3408_splice CSMD3_uc003yns.2_Splice_Site_p.P2610_splice|CSMD3_uc003ynt.2_Splice_Site_p.P3368_splice|CSMD3_uc011lhx.1_Splice_Site_p.P3239_splice NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 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 ATAATACTTACGTATGCATTC 0.378 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 17 35 1.15e-07 2.62e-07 1 0 NOV 4856 broad.mit.edu 37 8 120430512 120430512 + Silent SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:120430512A>T uc003yoq.2 + 3 746 c.525A>T c.(523-525)CCA>CCT p.P175P NM_002514 NP_002505 P48745 NOV_HUMAN nephroblastoma overexpressed precursor 175 regulation of cell growth growth factor activity|insulin-like growth factor binding p.P175A(1) ovary(2)|skin(2)|kidney(1) 5 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCTGTGGCCCAGATGAGGAGG 0.502 NA 50 78 0 0 0 0 LYPD2 137797 broad.mit.edu 37 8 143832542 143832542 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr8:143832542C>A uc003ywz.2 - 2 188 c.105G>T c.(103-105)TCG>TCT p.S35S NM_205545 NP_991108 Q6UXB3 LYPD2_HUMAN LY6/PLAUR domain containing 2 precursor 35 UPAR/Ly6. anchored to membrane|plasma membrane 0 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TGACACAGTCCGACACTCCTG 0.652 NA 46 61 1.24e-20 3.31e-20 1 0 PTPRD 5789 broad.mit.edu 37 9 8485777 8485777 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:8485777G>T uc003zkk.2 - 27 3751 c.3040C>A c.(3040-3042)CTG>ATG p.L1014M PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.L1005M|PTPRD_uc003zkm.2_Missense_Mutation_p.L1001M|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1014 Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TCCACAGGCAGTGTCCTGAAC 0.448 NA TSP Lung(15;0.13) 13 13 2.68e-12 6.68e-12 1 0 IFNA6 3443 broad.mit.edu 37 9 21350709 21350709 + Missense_Mutation SNP T T C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:21350709T>C uc011lni.1 - 1 178 c.178A>G c.(178-180)AGA>GGA p.R60G NM_021002 NP_066282 P05013 IFNA6_HUMAN interferon, alpha 6 precursor 60 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) TGGGGAAATCTGAAGTCATGT 0.522 NA 64 30 0 0 0 0 FAM75A3 727830 broad.mit.edu 37 9 40702701 40702701 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:40702701C>A uc010mmj.2 + 4 387 c.358C>A c.(358-360)CCA>ACA p.P120T NM_001083124 NP_001076593 Q5VYP0 F75A3_HUMAN hypothetical protein LOC727830 120 Pro-rich. integral to membrane ovary(2)|skin(1) 3 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GCTCTCCGGTCCAGACCCCCC 0.627 NA 22 108 1.04e-10 2.53e-10 1 0 TRPM6 140803 broad.mit.edu 37 9 77354822 77354822 + Missense_Mutation SNP C C A rs144713167 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:77354822C>A uc004ajl.1 - 34 5542 c.5304G>T c.(5302-5304)CAG>CAT p.Q1768H TRPM6_uc004ajk.1_Missense_Mutation_p.Q1763H|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.Q719H|TRPM6_uc010mpd.1_Missense_Mutation_p.Q601H|TRPM6_uc010mpe.1_Missense_Mutation_p.Q315H|TRPM6_uc004ajj.1_Missense_Mutation_p.Q724H NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1768 Alpha-type protein kinase.|Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 GGGACAATACCTGGATCATTG 0.498 NA 33 53 2.08e-15 5.37e-15 1 0 RASEF 158158 broad.mit.edu 37 9 85627405 85627405 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:85627405C>T uc004amo.1 - 5 1048 c.787G>A c.(787-789)GTA>ATA p.V263I NM_152573 NP_689786 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 263 Potential. protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 TTTTGACTTACGCGTTTTGAT 0.333 NA 5 14 0 0 0 0 C9orf102 375748 broad.mit.edu 37 9 98678717 98678717 + Splice_Site SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:98678717G>A uc004avt.3 + 6 1579 c.1191_splice c.e6+1 p.R397_splice C9orf102_uc010mrx.1_Splice_Site|C9orf102_uc011lum.1_Splice_Site_p.R99_splice|C9orf102_uc010mry.1_Splice_Site_p.R99_splice|C9orf102_uc010mrz.2_Splice_Site_p.R208_splice NM_001010895 NP_001010895 Q5T890 RAD26_HUMAN RAD26L hypothetical protein DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding 0 Acute lymphoblastic leukemia(62;0.0559) GGAAGACCGGGTAAGAACCGC 0.383 NA 26 37 0 0 0 0 MUSK 4593 broad.mit.edu 37 9 113459720 113459720 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:113459720C>T uc004bey.2 + 5 700 c.602C>T c.(601-603)TCC>TTC p.S201F MUSK_uc004bex.2_Missense_Mutation_p.S201F NM_005592 NP_005583 O15146 MUSK_HUMAN skeletal muscle receptor tyrosine kinase 201 Ig-like 2.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(3)|ovary(2)|central_nervous_system(1) 6 ACAGCATATTCCAAAGTGGTG 0.507 NA 46 42 0 0 0 0 ZNF883 169834 broad.mit.edu 37 9 115760032 115760032 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:115760032C>T uc011lwy.1 - 5 1747 c.508G>A c.(508-510)GAA>AAA p.E170K NM_001101338 NP_001094808 P0CG24 ZN883_HUMAN hypothetical protein LOC169834 170 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCCTGATGTTCAATTAGGTGT 0.403 NA 29 45 0 0 0 0 ZNF618 114991 broad.mit.edu 37 9 116764924 116764924 + Nonsense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:116764924G>T uc004bid.2 + 6 631 c.532G>T c.(532-534)GAG>TAG p.E178* ZNF618_uc004bib.1_Nonsense_Mutation_p.E146*|ZNF618_uc004bic.2_Nonsense_Mutation_p.E146*|ZNF618_uc011lxi.1_Nonsense_Mutation_p.E146*|ZNF618_uc011lxj.1_Nonsense_Mutation_p.E146* NM_133374 NP_588615 Q5T7W0 ZN618_HUMAN zinc finger protein 618 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CACCTCAGGGGAGGGAGCCTC 0.612 NA 27 81 0.000147802 0.000310288 1 0 COL27A1 85301 broad.mit.edu 37 9 117071686 117071686 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:117071686C>T uc011lxl.1 + 60 5364 c.5364C>T c.(5362-5364)TTC>TTT p.F1788F COL27A1_uc004bii.2_RNA|COL27A1_uc011lxn.1_Silent_p.F103F NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 1788 Fibrillar collagen NC1. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 CCGTACGCTTCCGGGCCTGGA 0.607 NA 46 66 0 0 0 0 FBXW2 26190 broad.mit.edu 37 9 123550177 123550177 + Silent SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:123550177C>T uc004bkl.1 - 3 521 c.360G>A c.(358-360)AAG>AAA p.K120K FBXW2_uc011lyc.1_5'UTR|FBXW2_uc004bkn.2_Silent_p.K152K|FBXW2_uc004bkm.1_Silent_p.K120K|FBXW2_uc010mvj.1_Silent_p.K120K NM_012164 NP_036296 Q9UKT8 FBXW2_HUMAN F-box and WD repeat domain containing 2 120 proteolysis protein binding|ubiquitin-protein ligase activity urinary_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 AATAAACCTTCTTCCAGTGCA 0.443 NA 45 55 0 0 0 0 OR1Q1 158131 broad.mit.edu 37 9 125377755 125377755 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:125377755G>A uc011lyy.1 + 1 739 c.739G>A c.(739-741)GTG>ATG p.V247M NM_012364 NP_036496 Q15612 OR1Q1_HUMAN olfactory receptor, family 1, subfamily Q, 247 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CCACCTCACTGTGGTGGCCAT 0.547 NA 44 72 0 0 0 0 OR1B1 347169 broad.mit.edu 37 9 125391641 125391641 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:125391641G>A uc011lyz.1 - 1 174 c.174C>T c.(172-174)CAC>CAT p.H58H NM_001004450 NP_001004450 Q8NGR6 OR1B1_HUMAN olfactory receptor, family 1, subfamily B, 58 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACATGGGTGAGTGCAGTCTGG 0.522 NA 20 37 0 0 0 0 LCN1 3933 broad.mit.edu 37 9 138415086 138415086 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:138415086G>C uc004cfz.1 + 3 288 c.230G>C c.(229-231)GGC>GCC p.G77A LCN1_uc004cga.1_Missense_Mutation_p.G77A NM_002297 NP_002288 P31025 LCN1_HUMAN lipocalin 1 precursor 77 proteolysis|response to stimulus|sensory perception of taste extracellular region cysteine-type endopeptidase inhibitor activity|transporter activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155) AGGATAAGTGGCCGGTGCCAG 0.637 NA 11 33 0 0 0 0 CACNA1B 774 broad.mit.edu 37 9 140901299 140901299 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr9:140901299G>A uc004cog.2 + 16 2200 c.2055G>A c.(2053-2055)TCG>TCA p.S685S CACNA1B_uc011mfd.1_Silent_p.S216S NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 685 Helical; Name=S6 of repeat II; (Potential).|II. membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GCATGTTCTCGTCCTTTTACT 0.552 NA 6 17 0 0 0 0 CNKSR2 22866 broad.mit.edu 37 X 21670529 21670529 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:21670529G>A uc004czx.1 + 22 3031 c.2995G>A c.(2995-2997)GAT>AAT p.D999N CNKSR2_uc011mjo.1_Missense_Mutation_p.D969N NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 999 regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 CCTTTTCTTGGATATCTGTCA 0.393 NA 30 15 0 0 0 0 KLHL34 257240 broad.mit.edu 37 X 21674749 21674749 + Silent SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:21674749G>A uc004czz.1 - 1 1700 c.1158C>T c.(1156-1158)GAC>GAT p.D386D NM_153270 NP_695002 Q8N239 KLH34_HUMAN kelch-like 34 386 Kelch 2. ovary(1) 1 CCCGCGAGTCGTCGGCCAGGG 0.682 NA 10 6 0 0 0 0 DMD 1756 broad.mit.edu 37 X 32361265 32361265 + Nonsense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:32361265C>A uc004dda.1 - 40 5969 c.5725G>T c.(5725-5727)GAA>TAA p.E1909* DMD_uc004dcw.2_Nonsense_Mutation_p.E565*|DMD_uc004dcx.2_Nonsense_Mutation_p.E568*|DMD_uc004dcz.2_Nonsense_Mutation_p.E1786*|DMD_uc004dcy.1_Nonsense_Mutation_p.E1905*|DMD_uc004ddb.1_Nonsense_Mutation_p.E1901*|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1909 Spectrin 13.|Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) ATTTTCCTTTCATCTCTGGGC 0.343 NA 25 12 7.08e-08 1.63e-07 1 0 MAGEB16 139604 broad.mit.edu 37 X 35821242 35821242 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:35821242C>A uc010ngt.1 + 2 1208 c.929C>A c.(928-930)GCG>GAG p.A310E NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 310 MAGE. lung(3)|ovary(2)|breast(1)|skin(1) 7 TCTCAGTATGCGGAAGCTCTG 0.498 NA 18 7 0.00498961 0.00992815 1 0 FAM47C 442444 broad.mit.edu 37 X 37027150 37027150 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:37027150C>A uc004ddl.1 + 1 681 c.667C>A c.(667-669)CGC>AGC p.R223S NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 223 ovary(3) 3 GTCCCATCTCCGCCCACAGCC 0.657 NA 35 23 1.36e-07 3.1e-07 1 0 ZNF630 57232 broad.mit.edu 37 X 47918863 47918863 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:47918863T>A uc004div.3 - 5 1220 c.968A>T c.(967-969)AAG>ATG p.K323M ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.K199M NM_001037735 NP_001032824 Q2M218 ZN630_HUMAN zinc finger protein 630 323 C2H2-type 3; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|lung(1) 2 TCTTCCATACTTAGTACATTC 0.433 NA 26 7 0 0 0 0 SHROOM4 57477 broad.mit.edu 37 X 50377848 50377848 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:50377848G>C uc004dpe.2 - 4 1251 c.1225C>G c.(1225-1227)CGC>GGC p.R409G SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.R293G NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 409 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding upper_aerodigestive_tract(1) 1 Ovarian(276;0.236) GCACTATGGCGATGCCCTGTG 0.572 NA 10 5 0 0 0 0 ALAS2 212 broad.mit.edu 37 X 55042056 55042056 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:55042056G>A uc004dua.3 - 8 1261 c.1123C>T c.(1123-1125)CGT>TGT p.R375C ALAS2_uc004dub.3_Missense_Mutation_p.R362C|ALAS2_uc004dud.3_Missense_Mutation_p.R338C NM_000032 NP_000023 P22557 HEM0_HUMAN 5-aminolevulinate synthase 2 isoform a 375 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(1) 1 Glycine(DB00145) ATTCCATCACGCTCCCCAATC 0.522 NA 28 15 0 0 0 0 ARHGEF9 23229 broad.mit.edu 37 X 62917154 62917154 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:62917154C>G uc004dvl.2 - 4 1251 c.412G>C c.(412-414)GAC>CAC p.D138H ARHGEF9_uc004dvj.1_Missense_Mutation_p.D27H|ARHGEF9_uc004dvk.1_5'UTR|ARHGEF9_uc011mos.1_Missense_Mutation_p.D117H|ARHGEF9_uc004dvm.1_Missense_Mutation_p.D117H|ARHGEF9_uc011mot.1_Missense_Mutation_p.D85H|ARHGEF9_uc004dvn.2_Missense_Mutation_p.D145H NM_015185 NP_056000 O43307 ARHG9_HUMAN Cdc42 guanine exchange factor 9 138 DH. apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 8 CTGAACATGTCCCTTCTCTTC 0.408 NA 21 41 0 0 0 0 FAM123B 139285 broad.mit.edu 37 X 63410016 63410016 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:63410016C>T uc004dvo.2 - 2 3424 c.3151G>A c.(3151-3153)GTG>ATG p.V1051M NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 1051 Pro-rich. Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 GGCAGCAGCACATCTCGAGGC 0.612 NA 9 10 0 0 0 0 RLIM 51132 broad.mit.edu 37 X 73811496 73811496 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:73811496G>T uc004ebu.2 - 5 1944 c.1654C>A c.(1654-1656)CAG>AAG p.Q552K RLIM_uc004ebw.2_Missense_Mutation_p.Q552K NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 552 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 TTGTCAATCTGTTCTTTGGTG 0.393 NA 19 32 7.08e-05 0.000149356 1 0 RLIM 51132 broad.mit.edu 37 X 73811508 73811508 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:73811508G>C uc004ebu.2 - 5 1932 c.1642C>G c.(1642-1644)CTC>GTC p.L548V RLIM_uc004ebw.2_Missense_Mutation_p.L548V NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 548 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 TCTTTGGTGAGTCCTCTAGGT 0.413 NA 17 30 0 0 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963237 73963237 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:73963237G>T uc004eby.2 - 3 1772 c.1155C>A c.(1153-1155)GGC>GGA p.G385G NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 385 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 CTTCCTCTTTGCCTTTCTTCT 0.458 NA 52 153 1.44e-25 3.97e-25 1 0 TAF9B 51616 broad.mit.edu 37 X 77392460 77392460 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:77392460G>T uc004eda.2 - 5 504 c.433C>A c.(433-435)CGA>AGA p.R145R NM_015975 NP_057059 Q9HBM6 TAF9B_HUMAN transcription associated factor 9B 145 negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding 0 ACACTTAATCGTGGAACTAGT 0.408 NA 31 48 1.22e-08 2.83e-08 1 0 KLHL4 56062 broad.mit.edu 37 X 86773132 86773132 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:86773132G>T uc004efb.2 + 1 418 c.236G>T c.(235-237)GGA>GTA p.G79V KLHL4_uc004efa.2_Missense_Mutation_p.G79V NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 79 cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 CCAGTGCCAGGACCGGCCCCT 0.498 NA 26 41 1.55e-18 4.09e-18 1 0 PABPC5 140886 broad.mit.edu 37 X 90690670 90690670 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:90690670G>T uc004efg.2 + 2 534 c.94G>T c.(94-96)GAC>TAC p.D32Y PABPC5_uc004eff.1_Intron NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 32 RRM 1. cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 TGTCACCGAGGACATGCTCTA 0.567 NA 13 28 4.37e-10 1.05e-09 1 0 SYTL4 94121 broad.mit.edu 37 X 99931173 99931173 + Missense_Mutation SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:99931173C>A uc004egd.3 - 19 2224 c.1868G>T c.(1867-1869)GGG>GTG p.G623V SYTL4_uc004egc.2_Missense_Mutation_p.G54V|SYTL4_uc010nnb.2_Missense_Mutation_p.G295V|SYTL4_uc010nnc.2_Missense_Mutation_p.G623V|SYTL4_uc004ege.3_Missense_Mutation_p.G623V|SYTL4_uc004egf.3_Missense_Mutation_p.G623V NM_080737 NP_542775 Q96C24 SYTL4_HUMAN synaptotagmin-like 4 623 exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding ovary(2) 2 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATTACTGATCCCTGAGGAGAA 0.557 NA 41 63 2.01e-17 5.25e-17 1 0 NOX1 27035 broad.mit.edu 37 X 100125791 100125791 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:100125791C>T uc004egj.2 - 2 264 c.58G>A c.(58-60)GGG>AGG p.G20R uc010nnf.2_Intron|NOX1_uc004egl.3_Missense_Mutation_p.G20R|NOX1_uc010nne.2_Missense_Mutation_p.G20R NM_007052 NP_008983 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 isoform long 20 Helical; (Potential). angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity ovary(1) 1 ACATTCAGCCCTAACCAAACA 0.383 NA 35 61 0 0 0 0 CENPI 2491 broad.mit.edu 37 X 100417906 100417906 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:100417906C>T uc004egx.2 + 21 2491 c.2221C>T c.(2221-2223)CAT>TAT p.H741Y CENPI_uc011mrg.1_Missense_Mutation_p.H727Y NM_006733 NP_006724 Q92674 CENPI_HUMAN centromere protein I 741 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding skin(1) 1 TAGTGTTCATCATTCTTCCAT 0.378 NA 39 49 0 0 0 0 GPRASP1 9737 broad.mit.edu 37 X 101912157 101912157 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:101912157C>G uc004ejj.3 + 5 4117 c.3316C>G c.(3316-3318)CAG>GAG p.Q1106E GPRASP1_uc004eji.3_Missense_Mutation_p.Q1106E|GPRASP1_uc010nod.2_Missense_Mutation_p.Q1106E NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 1106 OPRD1-binding. cytoplasm protein binding ovary(1)|lung(1) 2 TCAGCCTGATCAGCCTAGTCC 0.488 NA 62 120 0 0 0 0 FAM199X 139231 broad.mit.edu 37 X 103432977 103432977 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:103432977G>A uc004elw.2 + 5 1152 c.986G>A c.(985-987)CGG>CAG p.R329Q FAM199X_uc004elx.2_Intron NM_207318 NP_997201 Q6PEV8 F199X_HUMAN hypothetical protein LOC139231 329 ovary(1) 1 GAGCGGATTCGGGATTCAAAA 0.398 NA 77 133 0 0 0 0 TEX13A 56157 broad.mit.edu 37 X 104464080 104464080 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:104464080C>T uc004ema.2 - 5 908 c.796G>A c.(796-798)GAT>AAT p.D266N IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Silent_p.E266E NM_031274 NP_112564 Q9BXU3 TX13A_HUMAN testis expressed sequence 13A 266 intracellular zinc ion binding ovary(2) 2 GACCGGAGATCTCCCTCCTTC 0.552 NA 27 42 0 0 0 0 MID2 11043 broad.mit.edu 37 X 107097876 107097876 + Missense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:107097876G>C uc004enl.2 + 3 1331 c.758G>C c.(757-759)CGC>CCC p.R253P MID2_uc004enk.2_Missense_Mutation_p.R253P NM_012216 NP_036348 Q9UJV3 TRIM1_HUMAN midline 2 isoform 1 253 Potential. centrosome|microtubule ligase activity|zinc ion binding ovary(1) 1 CTGGTTAAGCGCAACAGCGAA 0.448 NA 33 47 0 0 0 0 IRS4 8471 broad.mit.edu 37 X 107977346 107977346 + Nonsense_Mutation SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:107977346G>C uc004eoc.2 - 1 2262 c.2229C>G c.(2227-2229)TAC>TAG p.Y743* NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 743 YXXM motif 4.|CRK-binding. Y->F: No effect. Reduces interaction with CRK by 50%; when associated with F-779. Abolishes interaction with CRK; when associated with F-700; F-717 and F-779. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 ACATCATCATGTACCCTCTTG 0.458 NA 50 88 0 0 0 0 WDR44 54521 broad.mit.edu 37 X 117527102 117527102 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:117527102G>A uc004eqn.2 + 4 1119 c.694G>A c.(694-696)GTT>ATT p.V232I WDR44_uc004eqo.2_Missense_Mutation_p.V232I|WDR44_uc011mtr.1_Missense_Mutation_p.V207I|WDR44_uc010nqi.2_5'UTR NM_019045 NP_061918 Q5JSH3 WDR44_HUMAN WD repeat domain 44 protein 232 Pro-rich. cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 AAAGAAGCCTGTTCCAGCACG 0.517 NA 88 130 0 0 0 0 NKRF 55922 broad.mit.edu 37 X 118723982 118723982 + Missense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:118723982A>T uc004erq.2 - 2 2059 c.1406T>A c.(1405-1407)GTC>GAC p.V469D NKRF_uc004err.2_Missense_Mutation_p.V469D NM_017544 NP_060014 O15226 NKRF_HUMAN transcription factor NRF 469 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding ovary(1)|central_nervous_system(1) 2 CCTTTCATAGACATACTCAAC 0.403 NA 52 92 0 0 0 0 AKAP14 158798 broad.mit.edu 37 X 119037469 119037469 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:119037469C>G uc004ese.2 + 4 319 c.181C>G c.(181-183)CCT>GCT p.P61A AKAP14_uc004esd.2_Missense_Mutation_p.P61A|AKAP14_uc004esf.2_Missense_Mutation_p.P61A NM_178813 NP_848928 Q86UN6 AKA28_HUMAN A kinase (PRKA) anchor protein 14 isoform a 61 cytoplasm 0 GGAGCGAAACCCTTTGAAAAA 0.393 NA 11 32 0 0 0 0 ZBTB33 10009 broad.mit.edu 37 X 119388366 119388366 + Missense_Mutation SNP A A T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:119388366A>T uc004esn.1 + 2 1324 c.1096A>T c.(1096-1098)AGT>TGT p.S366C ZBTB33_uc010nqm.1_Missense_Mutation_p.S366C NM_006777 NP_006768 Q86T24 KAISO_HUMAN kaiso 366 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 CCAAAATACCAGTTTTGATGG 0.373 NA 51 96 0 0 0 0 CT47B1 643311 broad.mit.edu 37 X 120008943 120008943 + Silent SNP C C A rs139114591 by1000genomes TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:120008943C>A uc011muc.1 - 1 837 c.582G>T c.(580-582)GCG>GCT p.A194A NM_001145718 NP_001139190 P0C2W7 CT47B_HUMAN cancer/testis antigen family 147, member B1 194 0 CCTGGACCGACGCAGCCTCCT 0.706 NA 38 69 8.74e-17 2.27e-16 1 0 THOC2 57187 broad.mit.edu 37 X 122778702 122778702 + Missense_Mutation SNP G G A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:122778702G>A uc004etu.2 - 14 1519 c.1487C>T c.(1486-1488)TCT>TTT p.S496F THOC2_uc011muh.1_Missense_Mutation_p.S417F|THOC2_uc011mui.1_Missense_Mutation_p.S381F NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 496 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 GTCCATCAAAGAAAGAGATGG 0.333 NA 27 46 0 0 0 0 BCORL1 63035 broad.mit.edu 37 X 129147936 129147936 + Silent SNP C C A rs138154970 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:129147936C>A uc004evb.1 + 4 1302 c.1188C>A c.(1186-1188)CCC>CCA p.P396P BCORL1_uc010nrd.1_Silent_p.P298P NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 396 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 cccctacacccatgcctgctg 0.114 NA 9 12 0.00448238 0.00896476 1 0 ARHGAP36 158763 broad.mit.edu 37 X 130215646 130215646 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:130215646G>T uc004evz.2 + 2 352 c.7G>T c.(7-9)GGC>TGC p.G3C ARHGAP36_uc004ewa.2_Intron|ARHGAP36_uc004ewb.2_Intron|ARHGAP36_uc004ewc.2_5'Flank NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 3 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 CAGAATGGGTGGCTGCATTCC 0.517 NA 51 74 4.01e-20 1.07e-19 1 0 ARHGAP36 158763 broad.mit.edu 37 X 130220538 130220538 + Missense_Mutation SNP C C T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:130220538C>T uc004evz.2 + 11 1730 c.1385C>T c.(1384-1386)GCA>GTA p.A462V ARHGAP36_uc004ewa.2_Missense_Mutation_p.A450V|ARHGAP36_uc004ewb.2_Missense_Mutation_p.A431V|ARHGAP36_uc004ewc.2_Missense_Mutation_p.A326V NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 462 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 TTCAGGAGTGCACGCATAAAG 0.453 NA 37 62 0 0 0 0 MAP7D3 79649 broad.mit.edu 37 X 135323385 135323385 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:135323385C>G uc004ezt.2 - 5 560 c.469G>C c.(469-471)GAT>CAT p.D157H MAP7D3_uc004ezs.2_Missense_Mutation_p.D156H|MAP7D3_uc011mwc.1_Missense_Mutation_p.D139H|MAP7D3_uc010nsa.1_Missense_Mutation_p.D156H NM_024597 NP_078873 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 157 cytoplasm|spindle ovary(2)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;0.000127) TGATAATCATCAGCAAGTCTC 0.328 NA 23 36 0 0 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995682 140995682 + Missense_Mutation SNP T T A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:140995682T>A uc004fbt.2 + 4 2778 c.2492T>A c.(2491-2493)GTG>GAG p.V831E MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 831 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) AGTTCTCCTGTGAGCTCCTTC 0.567 NA HNSCC(15;0.026) 131 190 0 0 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996136 140996136 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:140996136C>A uc004fbt.2 + 4 3232 c.2946C>A c.(2944-2946)CTC>CTA p.L982L MAGEC1_uc010nsl.1_Silent_p.L49L NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 982 MAGE. protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CATTAGACCTCACCTCTGAGG 0.473 NA HNSCC(15;0.026) 70 127 2.24e-25 6.16e-25 1 0 SPANXN2 494119 broad.mit.edu 37 X 142803752 142803752 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:142803752G>T uc004fbz.2 - 1 765 c.11C>A c.(10-12)CCG>CAG p.P4Q NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN SPANX-N2 protein 4 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) GCTTGAAGTCGGCTGTTCCAT 0.388 NA 76 154 1.21e-29 3.4e-29 1 0 SLITRK2 84631 broad.mit.edu 37 X 144906246 144906246 + Missense_Mutation SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:144906246G>T uc004fcd.2 + 5 3293 c.2303G>T c.(2302-2304)AGC>ATC p.S768I SLITRK2_uc010nsp.2_Missense_Mutation_p.S768I|SLITRK2_uc010nso.2_Missense_Mutation_p.S768I|SLITRK2_uc011mwq.1_Missense_Mutation_p.S768I|SLITRK2_uc011mwr.1_Missense_Mutation_p.S768I|SLITRK2_uc011mws.1_Missense_Mutation_p.S768I|SLITRK2_uc004fcg.2_Missense_Mutation_p.S768I|SLITRK2_uc011mwt.1_Missense_Mutation_p.S768I|CXorf1_uc004fch.2_5'Flank NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 768 Cytoplasmic (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) GAACTTCCCAGCGCAGGCCTA 0.463 NA 77 132 3.48e-39 1e-38 1 0 GPR50 9248 broad.mit.edu 37 X 150348250 150348250 + Missense_Mutation SNP C C G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:150348250C>G uc010ntg.1 + 2 330 c.195C>G c.(193-195)ATC>ATG p.I65M uc004fes.1_5'Flank|GPR50_uc011myc.1_Missense_Mutation_p.I65M NM_004224 NP_004215 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 65 Helical; Name=2; (Potential). cell-cell signaling integral to plasma membrane melatonin receptor activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CAGGCAACATCTTCGTGGTCA 0.488 NA 152 317 0 0 0 0 PASD1 139135 broad.mit.edu 37 X 150780162 150780162 + Silent SNP G G C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:150780162G>C uc004fev.3 + 4 476 c.144G>C c.(142-144)CTG>CTC p.L48L NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 48 PAS. nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) TGATTACACTGAGCACAGATG 0.318 NA 14 75 0 0 0 0 PASD1 139135 broad.mit.edu 37 X 150791486 150791486 + Silent SNP C C A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:150791486C>A uc004fev.3 + 7 828 c.496C>A c.(496-498)CGG>AGG p.R166R NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 166 nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) TCAGGAGGATCGGCTTTATCT 0.502 NA 63 104 2.53e-37 7.26e-37 1 0 PASD1 139135 broad.mit.edu 37 X 150840134 150840134 + Silent SNP G G T TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:150840134G>T uc004fev.3 + 13 1652 c.1320G>T c.(1318-1320)GGG>GGT p.G440G NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 440 nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) AACACGCTGGGCAAGTGAAGC 0.493 NA 64 79 1.88e-35 5.37e-35 1 0 PRAMEF18 391003 broad.mit.edu 37 1 13474788 13474788 + Frame_Shift_Del DEL G G - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:13474788delG uc009vnu.1 - 3 1388 c.1341delC c.(1339-1341)CCCfs p.P447fs NM_001099850 NP_001093320 Q5VWM3 PRA18_HUMAN PRAME family member 18 447 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AGATCCTGTTGGGCTCCCTTA 0.562 NA 3 6 --- --- --- --- NA NA NA NA AK5 26289 broad.mit.edu 37 1 77752660 77752660 + Frame_Shift_Del DEL A A - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:77752660delA uc001dhn.2 + 2 352 c.95delA c.(94-96)GAAfs p.E32fs AK5_uc001dho.2_Frame_Shift_Del_p.E6fs|AK5_uc001dhm.1_Frame_Shift_Del_p.E32fs NM_174858 NP_777283 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 isoform 1 32 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 TCTAAGCCCGAAGATCCAGTA 0.338 NA 32 36 --- --- --- --- NA NA NA NA OR11L1 391189 broad.mit.edu 37 1 248004498 248004499 + Frame_Shift_Ins INS - - A rs147783465 byFrequency TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr1:248004498_248004499insA uc001idn.1 - 1 700_701 c.700_701insT c.(700-702)CGGfs p.R234fs NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 234 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGTCTTTCTCCGGCCAGAGGTG 0.505 NA 21 65 --- --- --- --- NA NA NA NA MDGA2 161357 broad.mit.edu 37 14 47342647 47342647 + Frame_Shift_Del DEL C C - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr14:47342647delC uc001wwj.3 - 14 2730 c.2534delG c.(2533-2535)GGAfs p.G845fs MDGA2_uc001wwh.3_Frame_Shift_Del_p.G47fs|MDGA2_uc001wwi.3_Frame_Shift_Del_p.G616fs|MDGA2_uc010ani.2_Frame_Shift_Del_p.G405fs NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 845 MAM. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 TATATGTTGTCCATACATGTG 0.343 NA 37 21 --- --- --- --- NA NA NA NA MTMR15 22909 broad.mit.edu 37 15 31214472 31214473 + Frame_Shift_Del DEL AG AG - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:31214472_31214473delAG uc001zff.2 + 8 2378_2379 c.2087_2088delAG c.(2086-2088)CAGfs p.Q696fs MTMR15_uc001zfe.2_Frame_Shift_Del_p.Q301fs NM_014967 NP_055782 Q9Y2M0 FAN1_HUMAN myotubularin related protein 15 isoform a 696 Potential. 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) CTTTTGTCTCAGAGAATTTATT 0.426 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 39 48 --- --- --- --- NA NA NA NA COPS2 9318 broad.mit.edu 37 15 49420932 49420946 + In_Frame_Del DEL ACATCAGCTACATCT ACATCAGCTACATCT - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr15:49420932_49420946delACATCAGCTACATCT uc001zxf.2 - 12 1219_1233 c.1140_1154delAGATGTAGCTGATGT c.(1138-1155)ATAGATGTAGCTGATGTG>ATG p.380_385IDVADV>M COPS2_uc001zxh.2_In_Frame_Del_p.387_392IDVADV>M|COPS2_uc010ufa.1_In_Frame_Del_p.316_321IDVADV>M NM_004236 NP_004227 P61201 CSN2_HUMAN COP9 constitutive photomorphogenic homolog 380_385 PCI. cullin deneddylation|transcription from RNA polymerase II promoter cytoplasm|signalosome protein binding|signal transducer activity lung(1) 1 all_lung(180;0.0428) all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05) CAAGCTCTCCACATCAGCTACATCTATGTTTAACT 0.284 NA 14 125 --- --- --- --- NA NA NA NA IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr16:3119304_3119305insG uc002cto.2 + 6 864_865 c.653_654insG c.(652-654)GACfs p.D218fs IL32_uc002ctk.2_Frame_Shift_Ins_p.D115fs|IL32_uc010uwp.1_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.2_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctn.2_Frame_Shift_Ins_p.D172fs|IL32_uc002cts.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctq.2_Frame_Shift_Ins_p.D218fs|IL32_uc002ctr.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.2_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.1_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.2_Frame_Shift_Ins_p.D163fs NM_004221 NP_004212 P24001 IL32_HUMAN interleukin 32 isoform B 218 cell adhesion|defense response|immune response extracellular space cytokine activity pancreas(1) 1 CCACGGGGGGACAAGGAGGAGC 0.574 NA 20 379 --- --- --- --- NA NA NA NA ZNF99 7652 broad.mit.edu 37 19 22941167 22941167 + Frame_Shift_Del DEL C C - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr19:22941167delC uc010xrh.1 - 5 1271 c.1271delG c.(1270-1272)GGCfs p.G424fs NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AAAAGCTTTGCCACATTCTTC 0.338 NA 29 33 --- --- --- --- NA NA NA NA PTH2R 5746 broad.mit.edu 37 2 209308142 209308142 + Frame_Shift_Del DEL C C - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:209308142delC uc002vdb.2 + 6 792 c.579delC c.(577-579)AGCfs p.S193fs PTH2R_uc010zjb.1_Frame_Shift_Del_p.S204fs NM_005048 NP_005039 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor precursor 193 Helical; Name=2; (Potential). integral to plasma membrane parathyroid hormone receptor activity ovary(1)|breast(1)|skin(1) 3 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) GAGCTACAAGCATCTTTGTCA 0.398 NA 24 33 --- --- --- --- NA NA NA NA FN1 2335 broad.mit.edu 37 2 216271041 216271041 + Frame_Shift_Del DEL G G - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr2:216271041delG uc002vfa.2 - 19 3172 c.2906delC c.(2905-2907)CCTfs p.P969fs FN1_uc002vfb.2_Frame_Shift_Del_p.P969fs|FN1_uc002vfc.2_Frame_Shift_Del_p.P969fs|FN1_uc002vfd.2_Frame_Shift_Del_p.P969fs|FN1_uc002vfe.2_Frame_Shift_Del_p.P969fs|FN1_uc002vff.2_Frame_Shift_Del_p.P969fs|FN1_uc002vfg.2_Frame_Shift_Del_p.P969fs|FN1_uc002vfh.2_Frame_Shift_Del_p.P969fs|FN1_uc002vfi.2_Frame_Shift_Del_p.P969fs|FN1_uc002vfj.2_Frame_Shift_Del_p.P969fs NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 969 |Fibronectin type-III 4. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTGACCCCAGGGGACAGCCC 0.567 NA 27 51 --- --- --- --- NA NA NA NA TBC1D10A 83874 broad.mit.edu 37 22 30688801 30688803 + In_Frame_Del DEL CGC CGC - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr22:30688801_30688803delCGC uc011akt.1 - 11 1112_1114 c.1088_1090delGCG c.(1087-1092)CGCGAA>CAA p.363_364RE>Q GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_Intron|GATSL3_uc003ahh.2_Intron|GATSL3_uc010gvq.2_Intron|GATSL3_uc003ahi.2_In_Frame_Del_p.221_222RE>Q|TBC1D10A_uc003ahj.3_In_Frame_Del_p.275_276RE>Q|TBC1D10A_uc010gvu.2_In_Frame_Del_p.370_371RE>Q|TBC1D10A_uc003ahk.3_In_Frame_Del_p.363_364RE>Q NM_031937 NP_114143 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 363_364 intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity ovary(1) 1 ATGAGGTGTTCGCGCTCAATCTG 0.635 NA 24 12 --- --- --- --- NA NA NA NA PDHA2 5161 broad.mit.edu 37 4 96762121 96762121 + Frame_Shift_Del DEL G G - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:96762121delG uc003htr.3 + 1 883 c.820delG c.(820-822)GGAfs p.G274fs NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 274 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CTGTAGATCTGGAAAGGGGCC 0.458 NA 39 17 --- --- --- --- NA NA NA NA FAT1 2195 broad.mit.edu 37 4 187557372 187557372 + Frame_Shift_Del DEL A A - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr4:187557372delA uc003izf.2 - 6 4178 c.3990delT c.(3988-3990)AATfs p.N1330fs NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1330 Extracellular (Potential).|Cadherin 11. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GAGGGCGACCATTGTCAACTG 0.428 NA HNSCC(5;0.00058) 24 12 --- --- --- --- NA NA NA NA NSD1 64324 broad.mit.edu 37 5 176675268 176675269 + Frame_Shift_Ins INS - - A TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr5:176675268_176675269insA uc003mfr.3 + 11 4722_4723 c.4584_4585insA c.(4582-4587)TCTAAAfs p.S1528fs NSD1_uc003mft.3_Frame_Shift_Ins_p.S1259fs|NSD1_uc003mfs.1_Frame_Shift_Ins_p.S1425fs|NSD1_uc011dfx.1_Frame_Shift_Ins_p.S1176fs NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1528_1529 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TGCCTGCCTCTAAAAAAATGCA 0.495 NA T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 10 10 --- --- --- --- NA NA NA NA DSP 1832 broad.mit.edu 37 6 7568065 7568066 + Frame_Shift_Ins INS - - C TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:7568065_7568066insC uc003mxp.1 + 10 1471_1472 c.1192_1193insC c.(1192-1194)TCCfs p.S398fs DSP_uc003mxq.1_Frame_Shift_Ins_p.S398fs NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 398 Globular 1.|Spectrin 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GCTCCAGGACTCCATCAGGAAG 0.515 NA 16 51 --- --- --- --- NA NA NA NA BAI3 577 broad.mit.edu 37 6 70092801 70092802 + Frame_Shift_Ins INS - - G rs148278852 TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:70092801_70092802insG uc003pev.3 + 31 4802_4803 c.4354_4355insG c.(4354-4356)CGGfs p.R1452fs BAI3_uc010kak.2_Frame_Shift_Ins_p.R1452fs|BAI3_uc011dxx.1_Frame_Shift_Ins_p.R658fs NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1452 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) GGACAGATTTCGGGATATACCA 0.386 NA 10 20 --- --- --- --- NA NA NA NA MAS1 4142 broad.mit.edu 37 6 160328115 160328115 + Frame_Shift_Del DEL C C - TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chr6:160328115delC uc003qsz.2 + 1 142 c.128delC c.(127-129)TCCfs p.S43fs NM_002377 NP_002368 P04201 MAS_HUMAN MAS1 oncogene 43 Helical; Name=1; (Potential). anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade integral to plasma membrane angiotensin type II receptor activity ovary(2)|lung(2) 4 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06) ATGAGCATCTCCCCAGTGGGG 0.522 NA 44 71 --- --- --- --- NA NA NA NA ZMYM3 9203 broad.mit.edu 37 X 70468637 70468638 + Frame_Shift_Ins INS - - G TCGA-CR-7398-01A-11D-2012-08 TCGA-CR-7398-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 12c391dc-3138-4e73-bdc7-b06512dd0fa7 b36e8d02-d1c2-4cfe-879f-05e2dd5e2032 g.chrX:70468637_70468638insG uc004dzh.1 - 9 1722_1723 c.1635_1636insC c.(1633-1638)CCCTGCfs p.P545fs BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Frame_Shift_Ins_p.P545fs|ZMYM3_uc004dzj.1_Frame_Shift_Ins_p.P545fs NM_201599 NP_963893 Q14202 ZMYM3_HUMAN zinc finger protein 261 545_546 MYM-type 5. multicellular organismal development nucleus DNA binding|zinc ion binding ovary(1) 1 Renal(35;0.156) CAGAAGCTGCAGGGTCGGGGAG 0.45 NA 7 12 --- --- --- --- NA NA NA NA