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 SDF4 51150 broad.mit.edu 37 1 1163936 1163936 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:1163936C>G uc001adh.3 - 2 567 c.238G>C c.(238-240)GAG>CAG p.E80Q SDF4_uc001adi.3_Missense_Mutation_p.E80Q|SDF4_uc009vjv.2_Intron|SDF4_uc009vjw.2_RNA NM_016176 NP_057260 Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 isoform 2 80 cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|calcium ion binding|identical protein binding|protein binding upper_aerodigestive_tract(1)|large_intestine(1) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) AGGAAGACCTCCTGGTGGAAG 0.617 NA 17 31 0 0 0 0 SDF4 51150 broad.mit.edu 37 1 1164020 1164020 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:1164020C>T uc001adh.3 - 2 483 c.154G>A c.(154-156)GAG>AAG p.E52K SDF4_uc001adi.3_Missense_Mutation_p.E52K|SDF4_uc009vjv.2_Intron|SDF4_uc009vjw.2_RNA NM_016176 NP_057260 Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 isoform 2 52 cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis bleb|Golgi lumen|late endosome|soluble fraction calcium ion binding|calcium ion binding|identical protein binding|protein binding upper_aerodigestive_tract(1)|large_intestine(1) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204) TCATTCTCCTCCCTGTTGGCT 0.627 NA 29 44 0 0 0 0 C1orf127 148345 broad.mit.edu 37 1 11007909 11007909 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:11007909C>T uc010oao.1 - 8 1841 c.1836G>A c.(1834-1836)CTG>CTA p.L612L C1orf127_uc001arr.1_Silent_p.L594L|C1orf127_uc001ars.1_Silent_p.L586L NM_173507 NP_775778 B7ZLG7 B7ZLG7_HUMAN hypothetical protein LOC148345 612 ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) CCCACAGGCTCAGGGTTTGCG 0.662 NA 5 29 0 0 0 0 PLOD1 5351 broad.mit.edu 37 1 12024727 12024727 + Nonsense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:12024727C>G uc001atm.2 + 13 1446 c.1355C>G c.(1354-1356)TCA>TGA p.S452* PLOD1_uc010obb.1_Nonsense_Mutation_p.S499* NM_000302 NP_000293 Q02809 PLOD1_HUMAN lysyl hydroxylase 1 precursor 452 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity ovary(2)|breast(1) 3 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) CCCTATATTTCAAACATCTAC 0.587 NA 52 68 0 0 0 0 WDTC1 23038 broad.mit.edu 37 1 27632792 27632792 + Missense_Mutation SNP T T A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:27632792T>A uc009vst.2 + 16 2487 c.1952T>A c.(1951-1953)ATC>AAC p.I651N WDTC1_uc001bno.2_Missense_Mutation_p.I650N|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Missense_Mutation_p.I329N NM_015023 NP_055838 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 651 protein binding ovary(1)|central_nervous_system(1) 2 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) GGCTACCGGATCACGGGCCTG 0.647 NA 21 38 0 0 0 0 NT5C1A 84618 broad.mit.edu 37 1 40129051 40129051 + Silent SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:40129051G>C uc001cdq.1 - 4 489 c.489C>G c.(487-489)CTC>CTG p.L163L NM_032526 NP_115915 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 163 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GATAGGCCTTGAGGTAGCAGA 0.532 NA 23 29 0 0 0 0 CYP4A11 1579 broad.mit.edu 37 1 47395807 47395807 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:47395807C>T uc001cqp.3 - 12 1591 c.1540G>A c.(1540-1542)GAA>AAA p.E514K NM_000778 NP_000769 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, 514 NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V). long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding ovary(2)|skin(2) 4 NADH(DB00157) TCCTTGTCTTCACAAGGGTTA 0.353 NA 11 43 0 0 0 0 FOXE3 2301 broad.mit.edu 37 1 47882283 47882283 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:47882283G>A uc001crk.2 + 1 540 c.296G>A c.(295-297)CGC>CAC p.R99H NM_012186 NP_036318 Q13461 FOXE3_HUMAN forkhead box E3 99 Fork-head. cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 READ - Rectum adenocarcinoma(2;0.0908) GCCATCTACCGCTTCATCACC 0.642 NA 6 45 0 0 0 0 USP24 23358 broad.mit.edu 37 1 55598230 55598230 + Silent SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:55598230G>C uc001cyg.3 - 28 3045 c.3045C>G c.(3043-3045)CTC>CTG p.L1015L NM_015306 NP_056121 Q9UPU5 UBP24_HUMAN ubiquitin specific protease 24 1175 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(6)|kidney(6)|breast(1) 13 CTAAGTTGTAGAGCACTCTGA 0.383 NA 29 41 0 0 0 0 C1orf168 199920 broad.mit.edu 37 1 57216842 57216842 + Missense_Mutation SNP T T C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:57216842T>C uc001cym.3 - 9 1668 c.1262A>G c.(1261-1263)CAG>CGG p.Q421R C1orf168_uc009vzu.1_RNA|C1orf168_uc001cyl.2_RNA NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN hypothetical protein LOC199920 421 ovary(3)|skin(2) 5 GTTGGTCATCTGAATTTTTTC 0.458 NA 3 48 0 0 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507588 74507588 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:74507588C>T uc001dfy.3 - 7 1219 c.1027G>A c.(1027-1029)GAA>AAA p.E343K LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 343 ovary(2) 2 TCCAATTTTTCATCCACAATT 0.308 NA 5 40 0 0 0 0 SYCP1 6847 broad.mit.edu 37 1 115398091 115398091 + Missense_Mutation SNP A A C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:115398091A>C uc001efr.2 + 2 215 c.6A>C c.(4-6)GAA>GAC p.E2D SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.E2D|SYCP1_uc009wgw.2_Missense_Mutation_p.E2D NM_003176 NP_003167 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 2 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AGAAAATGGAAAAGCAAAAGC 0.483 NA 16 44 0 0 0 0 HIST2H3D 653604 broad.mit.edu 37 1 149784921 149784921 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:149784921C>T uc010pbl.1 - 1 316 c.316G>A c.(316-318)GAA>AAA p.E106K HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank NM_001123375 NP_001116847 Q71DI3 H32_HUMAN histone cluster 2, H3d 106 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding|protein binding 0 TTCGTGTCTTCGAACAGCCCC 0.652 NA 11 51 0 0 0 0 MUC1 4582 broad.mit.edu 37 1 155161971 155161971 + Silent SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:155161971C>G uc010pft.1 - 2 228 c.162G>C c.(160-162)GTG>GTC p.V54V RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_5'Flank|MUC1_uc001fhz.2_5'Flank|MUC1_uc010pfb.1_Intron|MUC1_uc010pfc.1_Intron|MUC1_uc009wph.2_Intron|MUC1_uc010pfd.1_Intron|MUC1_uc010pfe.1_Intron|MUC1_uc010pff.1_Intron|MUC1_uc009wpi.2_Intron|MUC1_uc010pfg.1_Intron|MUC1_uc010pfh.1_Intron|MUC1_uc010pfi.1_Intron|MUC1_uc010pfj.1_Intron|MUC1_uc010pfk.1_Intron|MUC1_uc010pfl.1_Intron|MUC1_uc001fin.2_Intron|MUC1_uc009wpk.2_Intron|MUC1_uc001fip.2_Intron|MUC1_uc009wqg.2_Intron|MUC1_uc009wpo.2_Intron|MUC1_uc009wps.2_Intron|MUC1_uc009wpt.2_Intron|MUC1_uc001fic.2_Intron|MUC1_uc009wpu.2_Intron|MUC1_uc009wpq.2_Intron|MUC1_uc009wpv.2_Intron|MUC1_uc001fim.2_Intron|MUC1_uc001fib.2_Intron|MUC1_uc009wpw.2_Intron|MUC1_uc001fie.2_Intron|MUC1_uc009wpr.2_Intron|MUC1_uc001fig.2_Intron|MUC1_uc001fif.2_Intron|MUC1_uc009wpx.2_Intron|MUC1_uc001fid.2_Intron|MUC1_uc009wpj.2_Intron|MUC1_uc001fij.2_Intron|MUC1_uc009wpy.2_Intron|MUC1_uc010pfm.1_Intron|MUC1_uc001fiq.2_Intron|MUC1_uc009wpz.2_Intron|MUC1_uc010pfn.1_Intron|MUC1_uc009wqa.2_Intron|MUC1_uc010pfo.1_Intron|MUC1_uc010pfp.1_Intron|MUC1_uc001fii.2_Intron|MUC1_uc001fih.2_Intron|MUC1_uc001fia.2_Intron|MUC1_uc009wqc.2_Intron|MUC1_uc009wqd.2_Intron|MUC1_uc009wqb.2_Intron|MUC1_uc010pfq.1_Intron|MUC1_uc010pfr.1_Intron|MUC1_uc001fit.2_Intron|MUC1_uc009wqe.2_Intron|MUC1_uc001fil.2_Intron|MUC1_uc009wpm.2_Intron|MUC1_uc009wpp.2_Intron|MUC1_uc010pfs.1_Intron|MUC1_uc001fik.2_Intron|MUC1_uc001fio.2_Intron|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Intron|MUC1_uc009wpn.2_Intron|MUC1_uc001fis.1_Intron|uc009wqh.2_5'Flank|MUC1_uc001fiv.1_Silent_p.V63V|MUC1_uc001fiw.1_Silent_p.V54V|MIR92B_hsa-mir-92b|MI0003560_5'Flank P15941 MUC1_HUMAN SubName: Full=MUC1 isoform M13; 54 Extracellular (Potential). apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding large_intestine(1)|pancreas(1)|breast(1)|skin(1) 4 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TGGTCATACTCACAGCATTCT 0.577 NA T IGH@ B-NHL 21 115 0 0 0 0 SELE 6401 broad.mit.edu 37 1 169694892 169694892 + Missense_Mutation SNP A A C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:169694892A>C uc001ggm.3 - 13 1983 c.1826T>G c.(1825-1827)ATC>AGC p.I609S C1orf112_uc001ggj.2_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN selectin E precursor 609 Cytoplasmic (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) AACTTAAAGGATGTAAGAAGG 0.408 NA 13 26 0 0 0 0 PRDX6 9588 broad.mit.edu 37 1 173456943 173456943 + Missense_Mutation SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:173456943G>T uc001giy.1 + 5 667 c.616G>T c.(616-618)GTC>TTC p.V206F NM_004905 NP_004896 P30041 PRDX6_HUMAN peroxiredoxin 6 206 cell redox homeostasis|phospholipid catabolic process cytoplasmic membrane-bounded vesicle|cytosol|lysosome peroxiredoxin activity|phospholipase A2 activity|protein binding central_nervous_system(1) 1 CCCGAAAGGAGTCTTCACCAA 0.478 NA 38 42 1.07e-22 1.21e-22 1 0 TDRD5 163589 broad.mit.edu 37 1 179659915 179659915 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:179659915C>G uc001gnf.1 + 17 3033 c.2783C>G c.(2782-2784)TCT>TGT p.S928C TDRD5_uc010pnp.1_Missense_Mutation_p.S982C|TDRD5_uc001gnh.1_Missense_Mutation_p.S483C NM_173533 NP_775804 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 928 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding ovary(2)|skin(2)|central_nervous_system(1) 5 CGTCAAGAATCTGTAGACCAG 0.438 NA 13 47 0 0 0 0 RGL1 23179 broad.mit.edu 37 1 183816705 183816705 + Silent SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:183816705A>G uc001gqo.2 + 3 301 c.144A>G c.(142-144)GAA>GAG p.E48E RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Silent_p.E83E|RGL1_uc010pog.1_Silent_p.E46E|RGL1_uc010poh.1_Silent_p.E46E|RGL1_uc010poi.1_Silent_p.E48E NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation 48 cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|ovary(4)|lung(2) 11 TACAGGTTGAAGGGGACCAGC 0.418 NA 3 172 0 0 0 0 PPFIA4 8497 broad.mit.edu 37 1 203025593 203025593 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:203025593G>C uc001gyz.2 + 5 1272 c.679G>C c.(679-681)GAG>CAG p.E227Q PPFIA4_uc009xaj.2_Missense_Mutation_p.E858Q|PPFIA4_uc010pqf.1_Missense_Mutation_p.E440Q|PPFIA4_uc001gza.2_Missense_Mutation_p.E227Q|PPFIA4_uc001gzb.1_5'Flank NM_015053 NP_055868 O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f 227 cell communication cell surface|cytoplasm protein binding ovary(4)|skin(1) 5 GCTGCGGCTAGAGAAGCTTGG 0.567 NA 8 30 0 0 0 0 NSL1 25936 broad.mit.edu 37 1 212965008 212965008 + Missense_Mutation SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:212965008C>A uc001hjn.2 - 1 132 c.98G>T c.(97-99)CGA>CTA p.R33L NSL1_uc001hjm.2_Missense_Mutation_p.R33L|NSL1_uc010pti.1_Missense_Mutation_p.R33L|TATDN3_uc001hjo.2_5'Flank|TATDN3_uc010ptj.1_5'Flank|TATDN3_uc010ptk.1_5'Flank|TATDN3_uc001hjp.2_5'Flank|TATDN3_uc010ptl.1_5'Flank NM_015471 NP_056286 Q96IY1 NSL1_HUMAN NSL1, MIND kinetochore complex component isoform 33 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102) AAAGTCTTCTCGGGGAGTGGC 0.632 NA 31 58 1.4e-14 1.56e-14 1 0 PTPN14 5784 broad.mit.edu 37 1 214549657 214549657 + Nonsense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:214549657G>A uc001hkk.1 - 15 3083 c.2812C>T c.(2812-2814)CGA>TGA p.R938* PTPN14_uc010pty.1_Nonsense_Mutation_p.R839* NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 938 Tyrosine-protein phosphatase. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TCACGGATTCGGCTGCGCTCG 0.458 NA 31 55 0 0 0 0 LIN9 286826 broad.mit.edu 37 1 226465500 226465500 + Silent SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:226465500G>A uc001hqa.2 - 7 1016 c.706C>T c.(706-708)CTG>TTG p.L236L LIN9_uc001hqb.2_Silent_p.L201L|LIN9_uc001hqc.2_Silent_p.L168L|LIN9_uc009xel.1_Silent_p.L201L NM_173083 NP_775106 Q5TKA1 LIN9_HUMAN lin-9 homolog 220 Sufficient for interaction with RB1. cell cycle|DNA replication nucleoplasm 0 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) CCAATAACCAGAGGCAAAGGA 0.333 NA 12 48 0 0 0 0 OR2M5 127059 broad.mit.edu 37 1 248309245 248309245 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:248309245C>T uc010pze.1 + 1 796 c.796C>T c.(796-798)CGC>TGC p.R266C NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 266 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CACATCTGATCGCTCCCCTAT 0.522 NA 65 94 0 0 0 0 OR2T6 254879 broad.mit.edu 37 1 248551737 248551737 + Silent SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:248551737C>A uc001iei.1 + 1 828 c.828C>A c.(826-828)GCC>GCA p.A276A NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 276 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCTTCTCTGCCTTTTATACCA 0.463 NA 16 69 4.75e-09 5.18e-09 1 0 USP6NL 9712 broad.mit.edu 37 10 11505446 11505446 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr10:11505446G>A uc001ikt.3 - 15 1802 c.1481C>T c.(1480-1482)TCA>TTA p.S494L USP6NL_uc001iks.1_Missense_Mutation_p.S511L NM_014688 NP_055503 Q92738 US6NL_HUMAN USP6 N-terminal like isoform 1 494 intracellular Rab GTPase activator activity 0 CTCTGTAGCTGAGACGTCTGA 0.537 NA 46 206 0 0 0 0 MYO3A 53904 broad.mit.edu 37 10 26409613 26409613 + Silent SNP T T C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr10:26409613T>C uc001isn.2 + 18 2145 c.1785T>C c.(1783-1785)GGT>GGC p.G595G MYO3A_uc009xko.1_Silent_p.G595G|MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 595 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 AGCAACTTGGTAGTATATACA 0.438 NA 12 70 0 0 0 0 TSPAN14 81619 broad.mit.edu 37 10 82269077 82269077 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr10:82269077C>T uc001kcj.3 + 5 407 c.300C>T c.(298-300)CTC>CTT p.L100L TSPAN14_uc009xss.2_Intron|TSPAN14_uc001kci.3_Silent_p.L83L NM_030927 NP_112189 Q8NG11 TSN14_HUMAN tetraspanin 14 isoform 1 100 Helical; (Potential). integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(32;0.229) CCATCGTGCTCATCTTCTTCC 0.612 NA 23 28 0 0 0 0 CUEDC2 79004 broad.mit.edu 37 10 104184490 104184490 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr10:104184490G>C uc001kvn.2 - 3 285 c.134C>G c.(133-135)TCG>TGG p.S45W CUEDC2_uc001kvm.2_5'Flank NM_024040 NP_076945 Q9H467 CUED2_HUMAN CUE domain containing 2 45 cytoplasm|nucleus protein binding 0 Colorectal(252;0.122) Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TGATGGGCCCGAGGGGCCCAG 0.587 NA 30 43 0 0 0 0 DOCK1 1793 broad.mit.edu 37 10 129141970 129141970 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr10:129141970G>C uc001ljt.2 + 31 3185 c.3121G>C c.(3121-3123)GAG>CAG p.E1041Q DOCK1_uc010qun.1_Missense_Mutation_p.E1062Q|DOCK1_uc009yaq.2_Missense_Mutation_p.E36Q NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1041 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CCTGCAACTGGAGAATTTTTC 0.433 NA 2 7 0 0 0 0 HBD 3045 broad.mit.edu 37 11 5255269 5255269 + Silent SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:5255269C>G uc001maf.1 - 2 462 c.267G>C c.(265-267)CTG>CTC p.L89L NM_000519 NP_000510 P02042 HBD_HUMAN delta globin 89 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCAGCTCACTCAGCTGAGAAA 0.493 NA 30 60 0 0 0 0 ABCC8 6833 broad.mit.edu 37 11 17427072 17427072 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:17427072C>G uc001mnc.2 - 27 3494 c.3368G>C c.(3367-3369)AGA>ACA p.R1123T NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 1123 Cytoplasmic (By similarity).|ABC transmembrane type-1 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGATGAAAATCTGTTCAGGAT 0.512 NA 46 101 0 0 0 0 SLC6A5 9152 broad.mit.edu 37 11 20622705 20622705 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:20622705C>G uc001mqd.2 + 2 307 c.34C>G c.(34-36)CTG>GTG p.L12V SLC6A5_uc009yic.2_5'UTR NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 12 Cytoplasmic (Potential). synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) AATGAATAAACTGCCAGCCAA 0.572 NA 6 17 0 0 0 0 CATSPER1 117144 broad.mit.edu 37 11 65793518 65793518 + Silent SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:65793518G>A uc001ogt.2 - 1 471 c.333C>T c.(331-333)TAC>TAT p.Y111Y NM_053054 NP_444282 Q8NEC5 CTSR1_HUMAN sperm-associated cation channel 1 111 His-rich.|Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding ovary(2) 2 AGTCCTCACCGTAGGAACGGT 0.597 NA 22 125 0 0 0 0 ARAP1 116985 broad.mit.edu 37 11 72406446 72406446 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:72406446C>G uc001osu.2 - 26 3751 c.3562G>C c.(3562-3564)GAG>CAG p.E1188Q ARAP1_uc001osv.2_Missense_Mutation_p.E1188Q|ARAP1_uc001osr.2_Missense_Mutation_p.E948Q|ARAP1_uc001oss.2_Missense_Mutation_p.E943Q|ARAP1_uc009yth.2_Missense_Mutation_p.E882Q|ARAP1_uc010rre.1_Missense_Mutation_p.E943Q NM_001040118 NP_001035207 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1188 Ras-associating. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding skin(1) 1 ATATGCTGCTCAGTCTCTGCC 0.577 NA 14 52 0 0 0 0 ARAP1 116985 broad.mit.edu 37 11 72406880 72406880 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:72406880C>T uc001osu.2 - 24 3492 c.3303G>A c.(3301-3303)ATG>ATA p.M1101I ARAP1_uc001osv.2_Missense_Mutation_p.M1101I|ARAP1_uc001osr.2_Missense_Mutation_p.M861I|ARAP1_uc001oss.2_Missense_Mutation_p.M856I|ARAP1_uc009yth.2_Missense_Mutation_p.M795I|ARAP1_uc010rre.1_Missense_Mutation_p.M856I NM_001040118 NP_001035207 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 1101 Rho-GAP. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding skin(1) 1 TGTGCACGTTCATCTGGTTCG 0.537 NA 14 23 0 0 0 0 C2CD3 26005 broad.mit.edu 37 11 73789689 73789689 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:73789689C>G uc001ouu.2 - 23 4301 c.4074G>C c.(4072-4074)AAG>AAC p.K1358N C2CD3_uc001out.2_RNA NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1358 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) CACCCACGATCTTCTGCATGA 0.498 NA 41 71 0 0 0 0 ODZ4 26011 broad.mit.edu 37 11 78381038 78381038 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:78381038C>T uc001ozl.3 - 32 6815 c.6352G>A c.(6352-6354)GAG>AAG p.E2118K ODZ4_uc001ozk.3_Missense_Mutation_p.E343K|ODZ4_uc009yvb.1_Missense_Mutation_p.E702K NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 2118 YD 14.|Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 CCAAACTGCTCTGTCTTGCCT 0.478 NA 19 26 0 0 0 0 CASP1 834 broad.mit.edu 37 11 104901918 104901918 + Missense_Mutation SNP T T C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:104901918T>C uc010rve.1 - 4 444 c.427A>G c.(427-429)AGG>GGG p.R143G CASP1_uc001pig.2_Missense_Mutation_p.R50G|CASP1_uc001pik.2_Missense_Mutation_p.R106G|CASP1_uc010rvf.1_Missense_Mutation_p.R50G|CASP1_uc010rvg.1_Missense_Mutation_p.R122G|CASP1_uc010rvh.1_Missense_Mutation_p.R50G|CASP1_uc010rvi.1_Intron|CASP1_uc001pim.3_Missense_Mutation_p.R143G|CASP1_uc009yxi.2_Missense_Mutation_p.R122G|CASP1_uc010rvj.1_Missense_Mutation_p.R143G|CASP1_uc009yxj.2_Intron|CASP1_uc010rvk.1_Missense_Mutation_p.R104G|CASP1_uc010rvl.1_Missense_Mutation_p.R143G NM_033292 NP_150634 P29466 CASP1_HUMAN caspase 1 isoform alpha precursor 143 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding ovary(2) 2 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) TTCCATATCCTTTGAGCTTCT 0.507 NA 16 24 0 0 0 0 MLL 4297 broad.mit.edu 37 11 118339526 118339526 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:118339526G>A uc001pta.2 + 2 492 c.469G>A c.(469-471)GTC>ATC p.V157I MLL_uc001ptb.2_Missense_Mutation_p.V157I|MLL_uc001psz.1_Missense_Mutation_p.V190I|MLL_uc001ptd.1_5'UTR NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 157 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) AGATGAAGAAGTCAGAGTGCG 0.408 NA T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 19 28 0 0 0 0 SLC37A4 2542 broad.mit.edu 37 11 118895769 118895769 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:118895769C>T uc010rys.1 - 11 1898 c.1141G>A c.(1141-1143)GGG>AGG p.G381R SLC37A4_uc009zam.2_RNA|SLC37A4_uc009zan.2_RNA|SLC37A4_uc010ryr.1_Missense_Mutation_p.G403R|SLC37A4_uc010ryt.1_Missense_Mutation_p.G308R|SLC37A4_uc001pus.2_Missense_Mutation_p.G381R NM_001164277 NP_001157749 O43826 G6PT1_HUMAN solute carrier family 37 (glucose-6-phosphate 381 Helical; (Potential). glucose homeostasis|glucose metabolic process endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane glucose-6-phosphate transmembrane transporter activity|glucose-6-phosphate transmembrane transporter activity large_intestine(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) AAGGGCAGCCCAGCCAGAAAG 0.582 NA Glycogen_Storage_Disease_type_Ib 30 53 0 0 0 0 MFRP 83552 broad.mit.edu 37 11 119214569 119214569 + Missense_Mutation SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:119214569C>A uc001pwj.2 - 9 1241 c.1081G>T c.(1081-1083)GTG>TTG p.V361L MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Intron NM_031433 NP_113621 Q9BXJ0 C1QT5_HUMAN membrane frizzled-related protein Error:Variant_position_missing_in_Q9BXJ0_after_alignment collagen 0 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) GTCTCATACACCTCCACGTAG 0.582 NA 38 83 4.33e-17 4.86e-17 1 0 EI24 9538 broad.mit.edu 37 11 125453532 125453532 + Nonsense_Mutation SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:125453532C>A uc001qca.2 + 12 1219 c.977C>A c.(976-978)TCA>TAA p.S326* EI24_uc001qcb.2_3'UTR|EI24_uc010sbd.1_RNA|EI24_uc009zbl.2_Nonsense_Mutation_p.S327*|EI24_uc001qcc.2_RNA|EI24_uc010sbe.1_Nonsense_Mutation_p.S313*|EI24_uc010sbf.1_RNA NM_004879 NP_004870 O14681 EI24_HUMAN etoposide induced 2.4 isoform 1 326 apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth endoplasmic reticulum membrane|integral to membrane|nuclear membrane ovary(1) 1 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975) AAGTTCCCTTCACCGCATCCG 0.552 NA 15 22 1.36e-06 1.46e-06 1 0 SLCO1A2 6579 broad.mit.edu 37 12 21471722 21471722 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr12:21471722C>G uc001rer.2 - 2 447 c.196G>C c.(196-198)GAG>CAG p.E66Q SLCO1A2_uc001res.2_Missense_Mutation_p.E66Q|SLCO1A2_uc010siq.1_5'UTR|SLCO1A2_uc010sio.1_5'UTR|SLCO1A2_uc010sip.1_Intron|SLCO1A2_uc001ret.2_Missense_Mutation_p.E64Q|SLCO1A2_uc001reu.2_Missense_Mutation_p.E46Q NM_021094 NP_066580 P46721 SO1A2_HUMAN organic anion transporting polypeptide A 66 Helical; Name=2; (Potential). bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 TTACCAATCTCAAAGCTTCCA 0.328 NA 23 61 0 0 0 0 IFLTD1 160492 broad.mit.edu 37 12 25672833 25672833 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr12:25672833G>C uc001rgs.2 - 6 1062 c.912C>G c.(910-912)ATC>ATG p.I304M IFLTD1_uc001rgt.1_Missense_Mutation_p.I207M|IFLTD1_uc010sji.1_Missense_Mutation_p.I325M|IFLTD1_uc010sjj.1_Missense_Mutation_p.I241M|IFLTD1_uc009zjc.2_Missense_Mutation_p.I285M NM_152590 NP_689803 Q8N9Z9 ILFT1_HUMAN intermediate filament tail domain containing 1 304 intermediate filament structural molecule activity ovary(2)|central_nervous_system(1) 3 all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847) GATAATTTGAGATATCTTTCT 0.373 NA 18 40 0 0 0 0 C12orf41 54934 broad.mit.edu 37 12 49073534 49073534 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr12:49073534C>T uc001rrx.2 - 3 409 c.334G>A c.(334-336)GGT>AGT p.G112S C12orf41_uc001rrw.2_5'UTR|C12orf41_uc001rrz.2_Missense_Mutation_p.G295S|C12orf41_uc001rry.2_RNA NM_017822 NP_060292 Q9H9L4 CL041_HUMAN hypothetical protein LOC54934 112 ovary(2) 2 AGTGTTTCACCCACAGGCCCT 0.507 NA 6 17 0 0 0 0 EIF4B 1975 broad.mit.edu 37 12 53410267 53410267 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr12:53410267G>C uc001sbh.3 + 2 230 c.24G>C c.(22-24)AAG>AAC p.K8N EIF4B_uc009zmp.1_RNA|EIF4B_uc010snu.1_Missense_Mutation_p.K8N|EIF4B_uc010snv.1_Missense_Mutation_p.K8N|EIF4B_uc001sbi.2_5'UTR NM_001417 NP_001408 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 8 insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(1)|kidney(1) 2 CAAAAAAGAAGAATAAGAAGG 0.393 NA 10 29 0 0 0 0 TIMELESS 8914 broad.mit.edu 37 12 56816656 56816656 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr12:56816656C>T uc001slf.2 - 19 2581 c.2413G>A c.(2413-2415)GAG>AAG p.E805K NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 805 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 CCATAGCCCTCAGTCATCTCT 0.448 NA 38 59 0 0 0 0 LGR5 8549 broad.mit.edu 37 12 71965319 71965319 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr12:71965319G>C uc001swl.2 + 12 1144 c.1096G>C c.(1096-1098)GAT>CAT p.D366H LGR5_uc001swm.2_Missense_Mutation_p.D342H|LGR5_uc001swn.1_RNA NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 366 LRR 13.|Extracellular (Potential). integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 CCTATTAGAAGATTTACCCAG 0.338 NA 7 28 0 0 0 0 KSR2 283455 broad.mit.edu 37 12 118105354 118105354 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr12:118105354G>A uc001two.2 - 5 1064 c.1009C>T c.(1009-1011)CGC>TGC p.R337C NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 366 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AAGAAGGAGCGGAGGGAGCGC 0.602 NA 11 19 0 0 0 0 GCN1L1 10985 broad.mit.edu 37 12 120600729 120600729 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr12:120600729C>T uc001txo.2 - 20 2098 c.2085G>A c.(2083-2085)AAG>AAA p.K695K NM_006836 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 695 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding ovary(4) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAGGATCGATCTTCATCCTGG 0.557 NA 38 74 0 0 0 0 KNTC1 9735 broad.mit.edu 37 12 123061462 123061462 + Silent SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr12:123061462C>G uc001ucv.2 + 30 2770 c.2607C>G c.(2605-2607)CTC>CTG p.L869L KNTC1_uc010taf.1_Intron NM_014708 NP_055523 P50748 KNTC1_HUMAN Rough Deal homolog, centromere/kinetochore 869 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding ovary(5)|kidney(3)|lung(1)|central_nervous_system(1) 10 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) GATACATTCTCAAACAAGATG 0.348 NA 14 21 0 0 0 0 LMO7 4008 broad.mit.edu 37 13 76381901 76381901 + Silent SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr13:76381901A>G uc001vjv.2 + 7 1543 c.783A>G c.(781-783)GTA>GTG p.V261V LMO7_uc010thv.1_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc010thw.1_Intron|LMO7_uc001vjw.1_Silent_p.V167V NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 546 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) ATGATTCTGTAGAGCGAGATA 0.388 NA 30 59 0 0 0 0 DOCK9 23348 broad.mit.edu 37 13 99498246 99498246 + Splice_Site SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr13:99498246C>G uc001vnt.2 - 38 4120 c.4065_splice c.e38-1 p.R1355_splice DOCK9_uc001vnw.2_Splice_Site_p.R1354_splice|DOCK9_uc001vnv.1_Splice_Site|DOCK9_uc010tir.1_Splice_Site_p.R1355_splice|DOCK9_uc001vnq.2_5'UTR|DOCK9_uc001vnr.2_5'UTR|DOCK9_uc010tin.1_5'UTR|DOCK9_uc001vns.2_Intron|DOCK9_uc010tio.1_Missense_Mutation_p.R47T|DOCK9_uc010tip.1_Missense_Mutation_p.R65T|DOCK9_uc001vnu.1_5'UTR|DOCK9_uc010tiq.1_Splice_Site_p.R333_splice NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 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) CATTCCTGTTCTGTTACGGGA 0.483 NA 7 16 0 0 0 0 MYH7 4625 broad.mit.edu 37 14 23893298 23893298 + Missense_Mutation SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr14:23893298G>T uc001wjx.2 - 23 2846 c.2740C>A c.(2740-2742)CAG>AAG p.Q914K NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 914 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GCCTCCAGCTGAATCTTGTTT 0.532 NA 28 66 2.45e-14 2.72e-14 1 0 FSCB 84075 broad.mit.edu 37 14 44975541 44975541 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr14:44975541G>A uc001wvn.2 - 1 959 c.650C>T c.(649-651)TCA>TTA p.S217L NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 217 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) CTGAGTAAATGAAGTTCTGCT 0.393 NA 26 64 0 0 0 0 C14orf49 161176 broad.mit.edu 37 14 95906295 95906295 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr14:95906295C>G uc001yei.3 - 11 2044 c.2029G>C c.(2029-2031)GAG>CAG p.E677Q C14orf49_uc010avi.2_Missense_Mutation_p.E677Q NM_152592 NP_689805 Q6ZMZ3 SYNE3_HUMAN nesprin-3 677 Spectrin 2.|Cytoplasmic (Potential). cytoskeletal anchoring at nuclear membrane integral to membrane|nuclear outer membrane|SUN-KASH complex actin binding central_nervous_system(1) 1 all_cancers(154;0.0937) COAD - Colon adenocarcinoma(157;0.245) GGGCCCGCCTCTCCCCGGTGT 0.637 NA 75 66 0 0 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102504835 102504835 + Silent SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr14:102504835G>C uc001yks.2 + 58 11111 c.10947G>C c.(10945-10947)CTG>CTC p.L3649L NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 3649 AAA 5 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding p.L3649V(1) ovary(7)|central_nervous_system(2)|pancreas(1) 10 ACCCGGTGCTGAACCGTGAAG 0.542 NA 7 34 0 0 0 0 ATP10A 57194 broad.mit.edu 37 15 25953381 25953381 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr15:25953381G>A uc010ayu.2 - 11 2517 c.2411C>T c.(2410-2412)GCG>GTG p.A804V NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 804 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GCCTTCCGCCGCATACACGTT 0.567 NA 4 132 0 0 0 0 EPB42 2038 broad.mit.edu 37 15 43508574 43508574 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr15:43508574G>A uc001zra.3 - 2 388 c.88C>T c.(88-90)CGC>TGC p.R30C EPB42_uc010bde.2_5'UTR|EPB42_uc001zrb.3_Missense_Mutation_p.R60C|EPB42_uc010udm.1_Missense_Mutation_p.R30C NM_001114134 NP_001107606 P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 isoform 2 30 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton ovary(2) 2 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) ACAAAGAGGCGCCGGGAGCTG 0.582 NA 27 50 0 0 0 0 CATSPER2 117155 broad.mit.edu 37 15 43924464 43924464 + Silent SNP T T C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr15:43924464T>C uc001zsh.2 - 12 1709 c.1494A>G c.(1492-1494)CGA>CGG p.R498R STRC_uc010udz.1_RNA|CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Silent_p.R496R|CATSPER2_uc001zsj.2_Silent_p.R496R NM_172095 NP_742093 Q96P56 CTSR2_HUMAN sperm-associated cation channel 2 isoform 2 498 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity ovary(1) 1 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) ACTCAAAATATCGGAAGAGTG 0.483 NA 21 53 0 0 0 0 SHC4 399694 broad.mit.edu 37 15 49126974 49126974 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr15:49126974C>T uc001zxb.1 - 11 2158 c.1729G>A c.(1729-1731)GAA>AAA p.E577K SHC4_uc010uey.1_Missense_Mutation_p.E334K|SHC4_uc010uez.1_Missense_Mutation_p.E291K NM_203349 NP_976224 Q6S5L8 SHC4_HUMAN rai-like protein 577 SH2. intracellular signal transduction cell junction|postsynaptic membrane ovary(3)|pancreas(2) 5 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) ACCTTGCCTTCAGGATCCACC 0.453 NA 33 85 0 0 0 0 LACTB 114294 broad.mit.edu 37 15 63419597 63419597 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr15:63419597C>T uc002alw.2 + 4 700 c.661C>T c.(661-663)CGT>TGT p.R221C LACTB_uc002alv.2_Missense_Mutation_p.R221C NM_032857 NP_116246 P83111 LACTB_HUMAN lactamase, beta isoform a 221 mitochondrion hydrolase activity 0 AAGTGGAATTCGTCATTATGA 0.299 NA 34 85 0 0 0 0 CSPG4 1464 broad.mit.edu 37 15 75982391 75982391 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr15:75982391G>A uc002baw.2 - 3 1108 c.1015C>T c.(1015-1017)CGC>TGC p.R339C NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 339 Extracellular (Potential).|Neurite growth inhibition (By similarity).|Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2. angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 AGGCCCAGGCGGTGTTCCTGG 0.642 NA 5 37 0 0 0 0 C15orf27 123591 broad.mit.edu 37 15 76426621 76426621 + Missense_Mutation SNP C C G rs114291110 by1000genomes TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr15:76426621C>G uc002bbq.2 + 2 172 c.17C>G c.(16-18)TCT>TGT p.S6C C15orf27_uc010bkp.2_Translation_Start_Site NM_152335 NP_689548 Q2M3C6 CO027_HUMAN hypothetical protein LOC123591 6 integral to membrane 0 GTGGCTCCATCTTTCAACATG 0.463 NA 26 38 0 0 0 0 IL16 3603 broad.mit.edu 37 15 81565513 81565513 + Missense_Mutation SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr15:81565513G>T uc002bgh.3 + 6 1134 c.758G>T c.(757-759)GGA>GTA p.G253V IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.G253V|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.G295V|IL16_uc002bgg.2_Missense_Mutation_p.G253V NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 253 Interaction with GRIN2A.|PDZ 1. immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 TTTGCAGGGGGAGCAGCAGCA 0.522 NA 18 42 6.5e-13 7.16e-13 1 0 IFT140 9742 broad.mit.edu 37 16 1573848 1573848 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr16:1573848G>A uc002cmb.2 - 25 3613 c.3251C>T c.(3250-3252)GCG>GTG p.A1084V IFT140_uc002clz.2_Missense_Mutation_p.A697V NM_014714 NP_055529 Q96RY7 IF140_HUMAN intraflagellar transport 140 1084 TPR 6. ovary(3)|pancreas(1)|skin(1) 5 Hepatocellular(780;0.219) CAGCATGACCGCCCTGTCCAT 0.672 NA 13 38 0 0 0 0 FAM100A 124402 broad.mit.edu 37 16 4664715 4664715 + Silent SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr16:4664715C>G uc002cwx.2 - 1 213 c.84G>C c.(82-84)GCG>GCC p.A28A FAM100A_uc010btv.1_Silent_p.A28A|FAM100A_uc002cwy.2_Silent_p.A28A NM_145253 NP_660296 Q8TB05 F100A_HUMAN hypothetical protein LOC124402 28 0 GCAGTTGCTTCGCCTGGTCGG 0.731 NA 4 23 0 0 0 0 CORO1A 11151 broad.mit.edu 37 16 30199820 30199820 + Missense_Mutation SNP C C T rs150186033 byFrequency TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr16:30199820C>T uc002dww.2 + 10 1326 c.1204C>T c.(1204-1206)CGG>TGG p.R402W uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CORO1A_uc010bzq.2_Missense_Mutation_p.R402W|CORO1A_uc010bzr.2_Intron|CORO1A_uc002dwx.2_Missense_Mutation_p.R296W|CORO1A_uc002dwy.1_3'UTR|LOC606724_uc002dwz.1_5'Flank NM_007074 NP_009005 P31146 COR1A_HUMAN coronin, actin binding protein, 1A 402 cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity 0 CCCAAAGAGCCGGGAGCTGAG 0.701 NA 20 29 0 0 0 0 BBS2 583 broad.mit.edu 37 16 56539947 56539947 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr16:56539947G>A uc002ejd.2 - 7 953 c.719C>T c.(718-720)TCG>TTG p.S240L BBS2_uc010ccg.2_Missense_Mutation_p.S240L NM_031885 NP_114091 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 protein 240 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding ovary(1) 1 ATGATTTTTCGACTGAAAAAG 0.343 NA Bardet-Biedl_syndrome 10 24 0 0 0 0 PKD1L2 114780 broad.mit.edu 37 16 81219116 81219116 + Nonsense_Mutation SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr16:81219116C>A uc002fgh.1 - 11 1978 c.1978G>T c.(1978-1980)GAA>TAA p.E660* PKD1L2_uc002fgj.2_Nonsense_Mutation_p.E660* NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 660 REJ.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 GGCCTGAGTTCCCAGGGCGCA 0.542 NA 9 23 0.000274275 0.000289571 1 0 ZZEF1 23140 broad.mit.edu 37 17 3979948 3979948 + Missense_Mutation SNP C C T rs143736611 byFrequency TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:3979948C>T uc002fxe.2 - 21 3281 c.3217G>A c.(3217-3219)GAA>AAA p.E1073K ZZEF1_uc002fxk.1_Missense_Mutation_p.E1074K NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 1073 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 AGTCCTCCTTCGGGGCCACTA 0.552 NA 10 26 0 0 0 0 ZZEF1 23140 broad.mit.edu 37 17 3981229 3981229 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:3981229C>T uc002fxe.2 - 19 3001 c.2937G>A c.(2935-2937)CTG>CTA p.L979L ZZEF1_uc002fxk.1_Silent_p.L980L NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 979 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 CCGTGCTCTTCAGCTGCAGGT 0.512 NA 24 46 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7578203 7578203 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:7578203C>T uc002gim.2 - 6 840 c.646G>A c.(646-648)GTG>ATG p.V216M TP53_uc002gig.1_Missense_Mutation_p.V216M|TP53_uc002gih.2_Missense_Mutation_p.V216M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V84M|TP53_uc010cng.1_Missense_Mutation_p.V84M|TP53_uc002gii.1_Missense_Mutation_p.V84M|TP53_uc010cnh.1_Missense_Mutation_p.V216M|TP53_uc010cni.1_Missense_Mutation_p.V216M|TP53_uc002gij.2_Missense_Mutation_p.V216M|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123M|TP53_uc002gio.2_Missense_Mutation_p.V84M|TP53_uc010vug.1_Missense_Mutation_p.V177M NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 216 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|V -> M (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> G (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.V216M(49)|p.V216del(8)|p.0?(7)|p.V216L(7)|p.V216E(4)|p.V216G(3)|p.V216A(3)|p.V216fs*6(2)|p.V216fs*31(2)|p.H214fs*5(2)|p.K164_P219del(1)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(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) GGCACCACCACACTATGTCGA 0.537 111 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) 27 10 0 0 0 0 MYH8 4626 broad.mit.edu 37 17 10322343 10322343 + Missense_Mutation SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:10322343A>G uc002gmm.2 - 4 310 c.215T>C c.(214-216)CTA>CCA p.L72P uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 72 Myosin head-like. 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 CCTGACAGTTAGAGTCTGGTG 0.313 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 26 45 0 0 0 0 FLII 2314 broad.mit.edu 37 17 18151261 18151261 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:18151261C>T uc002gsr.1 - 19 2328 c.2277G>A c.(2275-2277)CTG>CTA p.L759L FLII_uc002gsq.1_Silent_p.L630L|FLII_uc010cpy.1_Silent_p.L748L|FLII_uc010vxn.1_Silent_p.L728L|FLII_uc010vxo.1_Silent_p.L704L|FLII_uc002gss.1_Silent_p.L758L NM_002018 NP_002009 Q13045 FLII_HUMAN flightless I homolog 759 Interaction with ACTL6A.|Gelsolin-like 3. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(1)|skin(1) 2 all_neural(463;0.228) TTCTTGGCATCAGCTCCACCT 0.617 NA 32 73 0 0 0 0 SOCS7 30837 broad.mit.edu 37 17 36552194 36552194 + Silent SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:36552194G>A uc002hqa.2 + 9 1842 c.1719G>A c.(1717-1719)CAG>CAA p.Q573Q SOCS7_uc010cvl.2_Silent_p.Q539Q|SOCS7_uc002hqb.2_Intron NM_014598 NP_055413 O14512 SOCS7_HUMAN suppressor of cytokine signaling 7 573 intracellular signal transduction|negative regulation of signal transduction|regulation of growth cytoplasm|nucleus|plasma membrane protein binding|SH3 domain binding skin(1) 1 Breast(7;3.47e-17) TTTCCAAACAGAAGCAAGAGG 0.512 NA 18 31 0 0 0 0 MLLT6 4302 broad.mit.edu 37 17 36872785 36872785 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:36872785C>T uc002hqi.3 + 10 1215 c.1202C>T c.(1201-1203)TCT>TTT p.S401F MLLT6_uc002hqj.2_Intron|MLLT6_uc002hqk.3_5'Flank NM_005937 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia 401 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|prostate(1)|lung(1)|skin(1) 6 Breast(7;4.43e-21) GTGGTCTTCTCTGGCTTTGGG 0.657 NA T MLL AL 30 42 0 0 0 0 PGAP3 93210 broad.mit.edu 37 17 37840929 37840929 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:37840929C>T uc002hsj.2 - 3 396 c.353G>A c.(352-354)AGC>AAC p.S118N PGAP3_uc010cvy.2_RNA|PGAP3_uc010wej.1_Missense_Mutation_p.S118N|PGAP3_uc002hsk.2_Intron|PGAP3_uc010cvz.2_Missense_Mutation_p.S118N NM_033419 NP_219487 Q96FM1 PGAP3_HUMAN per1-like domain containing 1 precursor 118 Helical; (Potential). GPI anchor biosynthetic process Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane hydrolase activity, acting on ester bonds upper_aerodigestive_tract(1) 1 CATCACCAGGCTGGCCAGGCC 0.602 NA 18 26 0 0 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:39274087G>C uc002hvz.2 - 1 520 c.481C>G c.(481-483)CTG>GTG p.L161V NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.323 NA 4 22 0 0 0 0 NKIRAS2 28511 broad.mit.edu 37 17 40174467 40174467 + Missense_Mutation SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:40174467A>G uc002hyq.2 + 3 210 c.145A>G c.(145-147)ACA>GCA p.T49A NKIRAS2_uc010wgd.1_Missense_Mutation_p.T49A|NKIRAS2_uc002hyr.2_Missense_Mutation_p.T49A|NKIRAS2_uc002hys.2_Missense_Mutation_p.T49A|NKIRAS2_uc010wge.1_Missense_Mutation_p.T49A|NKIRAS2_uc002hyt.2_Missense_Mutation_p.T49A NM_001001349 NP_001001349 Q9NYR9 KBRS2_HUMAN NFKB inhibitor interacting Ras-like 2 isoform a 49 Small GTPase-like. I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity ovary(1) 1 all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319) CTCCATTGAGACAGACCGGGG 0.557 NA 27 42 0 0 0 0 GPATCH8 23131 broad.mit.edu 37 17 42483420 42483420 + Splice_Site SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:42483420C>G uc002igw.1 - 7 557 c.493_splice c.e7-1 p.R165_splice GPATCH8_uc002igv.1_Splice_Site_p.R87_splice|GPATCH8_uc010wiz.1_Splice_Site_p.R87_splice NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) CTTTTAATCTCTGGGTTAAAA 0.433 NA 18 29 0 0 0 0 AKAP1 8165 broad.mit.edu 37 17 55182885 55182885 + Silent SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:55182885C>A uc002iux.2 + 2 291 c.60C>A c.(58-60)CTC>CTA p.L20L AKAP1_uc010wnl.1_Silent_p.L20L|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Silent_p.L20L NM_003488 NP_003479 Q92667 AKAP1_HUMAN A-kinase anchor protein 1 precursor 20 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding ovary(1) 1 Breast(9;5.46e-08) TGGCGCTCCTCGGCTGGTGGT 0.577 NA 22 32 1.87e-06 2.01e-06 1 0 MED13 9969 broad.mit.edu 37 17 60042437 60042437 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:60042437G>C uc002izo.2 - 20 4851 c.4774C>G c.(4774-4776)CTA>GTA p.L1592V NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1592 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 GCTGTCTGTAGAGCTGATGTC 0.453 NA 12 41 0 0 0 0 DNAI2 64446 broad.mit.edu 37 17 72308173 72308173 + Missense_Mutation SNP T T A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr17:72308173T>A uc002jkf.2 + 12 1625 c.1526T>A c.(1525-1527)ATC>AAC p.I509N DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_5'Flank|DNAI2_uc002jki.2_RNA NM_023036 NP_075462 Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate polypeptide 2 509 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity ovary(2)|central_nervous_system(1) 3 CGAGAGAAGATCCTGGAGGCC 0.652 NA Kartagener_syndrome 14 21 0 0 0 0 SMAD4 4089 broad.mit.edu 37 18 48584552 48584552 + Nonsense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr18:48584552C>G uc010xdp.1 + 6 1263 c.725C>G c.(724-726)TCA>TGA p.S242* SMAD4_uc010xdo.1_RNA|SMAD4_uc002lfb.3_Nonsense_Mutation_p.S87* NM_005359 NP_005350 Q13485 SMAD4_HUMAN mothers against decapentaplegic homolog 4 242 BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(35)|p.?(2) pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1) 369 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) CAGATAGCATCAGGGCCTCAG 0.433 NA Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia 21 14 0 0 0 0 APBA3 9546 broad.mit.edu 37 19 3759797 3759797 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:3759797C>G uc002lyp.1 - 2 643 c.466G>C c.(466-468)GAG>CAG p.E156Q MRPL54_uc002lyq.3_5'Flank NM_004886 NP_004877 O96018 APBA3_HUMAN amyloid beta (A4) precursor protein-binding, 156 intracellular signal transduction|protein transport intracellular|membrane protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18) GAGGCCCCCTCCACCCATTCT 0.642 NA 10 33 0 0 0 0 ZNF254 9534 broad.mit.edu 37 19 24309211 24309211 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:24309211G>A uc002nru.2 + 4 543 c.409G>A c.(409-411)GAA>AAA p.E137K ZNF254_uc010xrk.1_Missense_Mutation_p.E52K NM_203282 NP_975011 O75437 ZN254_HUMAN zinc finger protein 254 137 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) GGTGAACAAAGAAGGTTATAA 0.299 NA 23 34 0 0 0 0 MAG 4099 broad.mit.edu 37 19 35790470 35790470 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:35790470C>T uc002nyy.1 + 5 578 c.429C>T c.(427-429)ATC>ATT p.I143I MAG_uc002nyx.1_Silent_p.I143I|MAG_uc010eds.1_Silent_p.I118I|MAG_uc002nyz.1_Silent_p.I143I NM_002361 NP_002352 P20916 MAG_HUMAN myelin associated glycoprotein isoform a 143 Ig-like C2-type 1.|Extracellular (Potential). blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding breast(3)|lung(2)|central_nervous_system(1)|skin(1) 7 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) CCCCCAACATCGTGGTGCCCC 0.672 NA 3 19 0 0 0 0 HSD17B14 51171 broad.mit.edu 37 19 49316972 49316972 + Missense_Mutation SNP T T C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:49316972T>C uc002pkv.1 - 7 756 c.490A>G c.(490-492)ATG>GTG p.M164V BCAT2_uc002pkq.3_5'Flank|BCAT2_uc002pkr.2_5'Flank|BCAT2_uc002pks.2_5'Flank|BCAT2_uc002pkt.2_5'Flank|BCAT2_uc010emh.1_5'Flank|BCAT2_uc010emi.1_5'Flank|BCAT2_uc010emj.1_5'Flank|HSD17B14_uc010emk.1_Missense_Mutation_p.M164V NM_016246 NP_057330 Q9BPX1 DHB14_HUMAN dehydrogenase/reductase (SDR family) member 10 164 steroid catabolic process centrosome|cytosol estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity 0 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346) GCTTTGGTCATGGCTGTTACT 0.612 NA 41 58 0 0 0 0 CPT1C 126129 broad.mit.edu 37 19 50204760 50204760 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:50204760G>C uc002ppj.2 + 6 767 c.562G>C c.(562-564)GAG>CAG p.E188Q CPT1C_uc002ppl.3_Missense_Mutation_p.E154Q|CPT1C_uc002ppi.2_Missense_Mutation_p.E105Q|CPT1C_uc002ppk.2_Missense_Mutation_p.E188Q|CPT1C_uc010eng.2_Missense_Mutation_p.E188Q|CPT1C_uc010enh.2_Missense_Mutation_p.E188Q|CPT1C_uc010ybc.1_Missense_Mutation_p.E26Q NM_152359 NP_689572 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C isoform 2 188 Cytoplasmic (Potential). fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) TTAGTACCTGGAGTCGGTCCG 0.577 NA 14 32 0 0 0 0 PTOV1 53635 broad.mit.edu 37 19 50361359 50361359 + Silent SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:50361359G>A uc002pqf.1 + 9 1094 c.924G>A c.(922-924)CCG>CCA p.P308P PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Silent_p.P276P|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA NM_017432 NP_059128 Q86YD1 PTOV1_HUMAN prostate tumor overexpressed 1 308 Interaction with FLOT1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|plasma membrane 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) AGCTCATCCCGCAGCAGCTGC 0.687 NA 12 30 0 0 0 0 PNKP 11284 broad.mit.edu 37 19 50368399 50368399 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:50368399C>T uc002pqh.2 - 3 535 c.483G>A c.(481-483)GTG>GTA p.V161V PNKP_uc002pqg.2_5'UTR|PNKP_uc002pqi.2_Silent_p.V122V|PNKP_uc002pqj.2_Silent_p.V161V|PNKP_uc010enm.2_Silent_p.V161V|PNKP_uc002pqk.2_Silent_p.V161V NM_007254 NP_009185 Q96T60 PNKP_HUMAN polynucleotide kinase 3' phosphatase 161 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding ovary(1)|kidney(1) 2 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) CCTGGGGTTTCACCCCAGCTG 0.552 NA Other_BER_factors 5 21 0 0 0 0 ZFP28 140612 broad.mit.edu 37 19 57061542 57061542 + Missense_Mutation SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:57061542G>T uc002qnj.2 + 6 865 c.794G>T c.(793-795)GGA>GTA p.G265V ZFP28_uc002qni.2_Missense_Mutation_p.G265V|uc002qnk.1_Intron NM_020828 NP_065879 Q8NHY6 ZFP28_HUMAN zinc finger protein 28 265 KRAB 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) AGTGACCTGGGATCAGCAGGT 0.478 NA 5 9 3.6e-05 3.84e-05 1 0 ZNF835 90485 broad.mit.edu 37 19 57174961 57174961 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:57174961C>G uc010ygo.1 - 2 1672 c.1672G>C c.(1672-1674)GAA>CAA p.E558Q ZNF835_uc010ygn.1_Missense_Mutation_p.E536Q NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 TCTTAATCTTCTGCTGGTCCA 0.388 NA 27 31 0 0 0 0 ZIK1 284307 broad.mit.edu 37 19 58102361 58102361 + Silent SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:58102361C>A uc002qpg.2 + 4 1279 c.1182C>A c.(1180-1182)CTC>CTA p.L394L ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Silent_p.L339L|ZIK1_uc002qpi.2_Silent_p.L381L|ZIK1_uc002qpj.2_Silent_p.L291L NM_001010879 NP_001010879 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 394 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AAGCTACCCTCATTAAACACC 0.438 NA 26 43 1.85e-09 2.02e-09 1 0 A1BG 1 broad.mit.edu 37 19 58863922 58863922 + Splice_Site SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr19:58863922C>T uc002qsd.3 - 4 403 c.341_splice c.e4-1 p.K114_splice NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_Splice_Site|NCRNA00181_uc002qsg.2_RNA NM_130786 NP_570602 P04217 A1BG_HUMAN alpha 1B-glycoprotein precursor extracellular region 0 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) GGCAAGGACTCTGTGGGTGGG 0.602 NA 16 115 0 0 0 0 PRKD3 23683 broad.mit.edu 37 2 37501611 37501611 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:37501611G>A uc002rqd.2 - 10 2159 c.1604C>T c.(1603-1605)ACT>ATT p.T535I PRKD3_uc002rqe.1_Missense_Mutation_p.T135I|PRKD3_uc002rqf.1_Missense_Mutation_p.T535I NM_005813 NP_005804 O94806 KPCD3_HUMAN protein kinase D3 535 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity lung(2)|ovary(1)|central_nervous_system(1) 4 all_hematologic(82;0.21) TGCTTGAGGAGTAACAGGCAT 0.453 NA 18 45 0 0 0 0 PLEK 5341 broad.mit.edu 37 2 68620335 68620335 + Missense_Mutation SNP G G C rs146499837 TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:68620335G>C uc002sen.3 + 7 966 c.804G>C c.(802-804)TTG>TTC p.L268F PLEK_uc010fde.2_Missense_Mutation_p.L268F NM_002664 NP_002655 P08567 PLEK_HUMAN pleckstrin 268 PH 2. actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding ovary(1) 1 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) AGTTCATCTTGAGAGAAGACC 0.423 NA 45 130 0 0 0 0 BMP10 27302 broad.mit.edu 37 2 69093522 69093522 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:69093522C>T uc002sez.1 - 2 675 c.516G>A c.(514-516)GAG>GAA p.E172E NM_014482 NP_055297 O95393 BMP10_HUMAN bone morphogenetic protein 10 preproprotein 172 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding ovary(2) 2 CCCCTTTGCTCTCCAGCACTT 0.448 NA 25 61 0 0 0 0 NAT8 9027 broad.mit.edu 37 2 73868736 73868737 + Missense_Mutation DNP CG CG GA TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:73868736_73868737CG>GA uc002sji.1 - 2 186_187 c.19_20CG>TC c.(19-21)CGC>TCC p.R7S NM_003960 NP_003951 Q9UHE5 NAT8_HUMAN N-acetyltransferase 8 7 gastrulation with mouth forming second|response to drug integral to membrane N-acetyltransferase activity ovary(1) 1 CTGGTATTTGCGGATGTGACAA 0.589 NA 33 84 0 0 0 0 C2orf65 130951 broad.mit.edu 37 2 74785901 74785901 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:74785901G>A uc002smy.2 - 11 1652 c.1535C>T c.(1534-1536)TCT>TTT p.S512F C2orf65_uc010ysa.1_Missense_Mutation_p.S508F|C2orf65_uc010ffp.2_Missense_Mutation_p.S161F|C2orf65_uc002smx.2_Missense_Mutation_p.S264F NM_138804 NP_620159 Q8TC57 CB065_HUMAN hypothetical protein LOC130951 512 chromatin assembly|female gamete generation|RNA processing|spermatogenesis integral to membrane ovary(1)|pancreas(1) 2 ATCTGAGGAAGATTTGCTGGC 0.587 NA 14 85 0 0 0 0 C2orf89 129293 broad.mit.edu 37 2 85097636 85097636 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:85097636C>G uc010ysl.1 - 2 471 c.382G>C c.(382-384)GAG>CAG p.E128Q C2orf89_uc002sou.3_Missense_Mutation_p.E128Q|C2orf89_uc010fgc.1_Missense_Mutation_p.E128Q NM_001080824 NP_001074293 Q86V40 CB089_HUMAN hypothetical protein LOC129293 precursor 128 Extracellular (Potential). integral to membrane ovary(1) 1 TTGACATACTCCAGGTGGCGC 0.577 NA 15 39 0 0 0 0 IL1B 3553 broad.mit.edu 37 2 113591119 113591119 + Missense_Mutation SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:113591119C>A uc002tii.1 - 4 220 c.133G>T c.(133-135)GAT>TAT p.D45Y IL1B_uc002tih.1_Missense_Mutation_p.D14Y NM_000576 NP_000567 P01584 IL1B_HUMAN interleukin 1, beta proprotein 45 activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation cytosol|extracellular space cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding lung(3)|breast(1) 4 Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366) ATGCCGCCATCCAGAGGGCAG 0.602 NA 29 55 9.39e-14 1.04e-13 1 0 LCT 3938 broad.mit.edu 37 2 136579616 136579616 + Silent SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:136579616C>A uc002tuu.1 - 5 971 c.960G>T c.(958-960)CTG>CTT p.L320L uc002tuv.1_RNA NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 320 Extracellular (Potential).|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) ATGAACAACTCAGAAACTCAT 0.264 NA 13 31 1.05e-09 1.15e-09 1 0 ACVR1 90 broad.mit.edu 37 2 158617419 158617419 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:158617419C>G uc002tzm.3 - 10 1576 c.1237G>C c.(1237-1239)GAA>CAA p.E413Q ACVR1_uc002tzn.3_Missense_Mutation_p.E413Q|ACVR1_uc010fog.2_Missense_Mutation_p.E413Q NM_001111067 NP_001104537 Q04771 ACVR1_HUMAN activin A receptor, type I precursor 413 Cytoplasmic (Potential).|Protein kinase. BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway activin receptor complex activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.104) Adenosine triphosphate(DB00171) CTGGCCACTTCCCACAAAACA 0.433 NA 5 34 0 0 0 0 BAZ2B 29994 broad.mit.edu 37 2 160245956 160245956 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:160245956C>G uc002uao.2 - 21 3468 c.3116G>C c.(3115-3117)AGA>ACA p.R1039T BAZ2B_uc002uap.2_Missense_Mutation_p.R1003T NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1039 Lys-rich.|Potential. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 TTTATTTAATCTTTTCTCATC 0.323 NA 23 56 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179579947 179579947 + Missense_Mutation SNP T T C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:179579947T>C uc010zfg.1 - 87 22458 c.22234A>G c.(22234-22236)AAA>GAA p.K7412E TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K4073E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8339 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) TCAGCTCCTTTCAGTGTCTCT 0.398 NA 40 92 0 0 0 0 ANKAR 150709 broad.mit.edu 37 2 190571721 190571721 + Silent SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:190571721A>G uc002uqw.1 + 8 1755 c.1755A>G c.(1753-1755)CAA>CAG p.Q585Q ANKAR_uc002uqu.2_RNA NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 656 ANK 4. integral to membrane binding ovary(2)|pancreas(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) ACACTATTCAATACCTGTTTT 0.353 NA 10 66 0 0 0 0 OSGEPL1 64172 broad.mit.edu 37 2 190617430 190617430 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:190617430C>T uc002uqz.1 - 7 1649 c.1115G>A c.(1114-1116)CGT>CAT p.R372H OSGEPL1_uc002ura.1_Intron NM_022353 NP_071748 Q9H4B0 OSGP2_HUMAN O-sialoglycoprotein endopeptidase-like 1 372 proteolysis|tRNA processing metalloendopeptidase activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831) CAAGCCAGCACGTAGTCTTTC 0.343 NA 28 59 0 0 0 0 ALS2CR8 79800 broad.mit.edu 37 2 203834680 203834680 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:203834680G>C uc002uzo.2 + 10 1272 c.992G>C c.(991-993)AGA>ACA p.R331T ALS2CR8_uc010zhz.1_RNA|ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Missense_Mutation_p.R255T|ALS2CR8_uc010zib.1_Missense_Mutation_p.R255T|ALS2CR8_uc010zic.1_Missense_Mutation_p.R243T|ALS2CR8_uc002uzp.2_Missense_Mutation_p.R331T NM_001104586 NP_001098056 Q8N187 AL2S8_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 331 large_intestine(1)|ovary(1) 2 CCTGAATATAGAGTTCCTACA 0.308 NA 15 22 0 0 0 0 ABCA12 26154 broad.mit.edu 37 2 215797408 215797408 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr2:215797408G>C uc002vew.2 - 53 7958 c.7738C>G c.(7738-7740)CAA>GAA p.Q2580E ABCA12_uc002vev.2_Missense_Mutation_p.Q2262E|ABCA12_uc010zjn.1_Missense_Mutation_p.Q1507E NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 2580 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GTGGAACCTTGGCTGCTGGTA 0.423 NA 14 42 0 0 0 0 CBFA2T2 9139 broad.mit.edu 37 20 32232451 32232451 + Silent SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr20:32232451G>A uc002wzg.1 + 12 2351 c.1814G>A c.(1813-1815)TGA>TAA p.*605* CBFA2T2_uc010zug.1_Silent_p.*379*|CBFA2T2_uc002wze.1_Silent_p.*596*|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.*576*|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA|CBFA2T2_uc002wzk.1_Silent_p.*153* NM_005093 NP_005084 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 605 nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1)|skin(1) 2 AACGGACTCTGAGCCCCGGAC 0.607 NA 33 99 0 0 0 0 EPB41L1 2036 broad.mit.edu 37 20 34761727 34761727 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr20:34761727G>A uc002xfb.2 + 2 199 c.28G>A c.(28-30)GAG>AAG p.E10K EPB41L1_uc002xeu.2_Intron|EPB41L1_uc010zvo.1_Missense_Mutation_p.E10K|EPB41L1_uc002xev.2_Missense_Mutation_p.E10K|EPB41L1_uc002xew.2_Intron|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Missense_Mutation_p.E10K|EPB41L1_uc002xez.2_Intron NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 10 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity ovary(2)|pancreas(1) 3 Breast(12;0.0239) CCCCGACTCTGAGGTGAAGAA 0.627 NA 20 69 0 0 0 0 RIMS4 140730 broad.mit.edu 37 20 43385614 43385614 + Silent SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr20:43385614G>A uc002xms.2 - 5 516 c.516C>T c.(514-516)GTC>GTT p.V172V RIMS4_uc010ggu.2_Silent_p.V173V NM_182970 NP_892015 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 172 C2. exocytosis|neurotransmitter transport cell junction|synapse ovary(4)|central_nervous_system(1) 5 Myeloproliferative disorder(115;0.0122) ACTTGCGAGCGACTTTGGTCT 0.562 NA 117 361 0 0 0 0 ELMO2 63916 broad.mit.edu 37 20 44999107 44999107 + Missense_Mutation SNP T T C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr20:44999107T>C uc002xrt.1 - 20 2069 c.1859A>G c.(1858-1860)GAG>GGG p.E620G ELMO2_uc010zxq.1_Missense_Mutation_p.E352G|ELMO2_uc002xrs.1_Missense_Mutation_p.E367G|ELMO2_uc002xru.1_Missense_Mutation_p.E620G|ELMO2_uc010zxr.1_Missense_Mutation_p.E632G|ELMO2_uc010zxs.1_Missense_Mutation_p.E437G|ELMO2_uc002xrv.1_Missense_Mutation_p.E339G NM_133171 NP_573403 Q96JJ3 ELMO2_HUMAN engulfment and cell motility 2 620 PH. apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane lyase activity|receptor tyrosine kinase binding|SH3 domain binding ovary(1) 1 Myeloproliferative disorder(115;0.0122) AGCACTTTTCTCTTTCATGTG 0.458 NA 27 107 0 0 0 0 ITSN1 6453 broad.mit.edu 37 21 35208792 35208792 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr21:35208792G>C uc002yta.1 + 29 3785 c.3517G>C c.(3517-3519)GAG>CAG p.E1173Q DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.E1097Q|ITSN1_uc010gmg.2_Missense_Mutation_p.E1060Q|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.E1173Q|ITSN1_uc010gmi.2_Missense_Mutation_p.E1136Q|ITSN1_uc010gmj.2_Missense_Mutation_p.E1052Q|ITSN1_uc002ysy.2_Missense_Mutation_p.E1168Q|ITSN1_uc002ysx.2_Missense_Mutation_p.E1131Q|ITSN1_uc002ytb.1_Missense_Mutation_p.E1168Q|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.E1065Q|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.E1168Q|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.E1036Q|ITSN1_uc002yti.1_RNA NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 1173 SH3 5. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 GAATGACGATGAGCTGGCCTT 0.572 NA 19 26 0 0 0 0 NPTXR 23467 broad.mit.edu 37 22 39222541 39222541 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr22:39222541C>T uc003awk.2 - 3 1216 c.1062G>A c.(1060-1062)GCG>GCA p.A354A NM_014293 NP_055108 O95502 NPTXR_HUMAN neuronal pentraxin receptor 354 Pentaxin.|Extracellular (Potential). integral to membrane metal ion binding central_nervous_system(2)|skin(1) 3 Melanoma(58;0.04) GCTCATGGCCCGCCTCTAGCA 0.667 NA 15 95 0 0 0 0 POLDIP3 84271 broad.mit.edu 37 22 42981957 42981957 + Missense_Mutation SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr22:42981957G>T uc003bcu.2 - 9 1205 c.1106C>A c.(1105-1107)CCA>CAA p.P369Q POLDIP3_uc011app.1_3'UTR|POLDIP3_uc003bcv.2_Missense_Mutation_p.P340Q|POLDIP3_uc011apq.1_Missense_Mutation_p.P386Q|POLDIP3_uc010gza.2_RNA|POLDIP3_uc011apr.1_RNA|POLDIP3_uc010gzb.1_Intron NM_032311 NP_115687 Q9BY77 PDIP3_HUMAN DNA polymerase delta interacting protein 3 369 positive regulation of translation cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding 0 TTTCATTGATGGGCTGTCACT 0.488 NA 7 35 8.13e-05 8.63e-05 1 0 C3orf15 89876 broad.mit.edu 37 3 119462951 119462951 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr3:119462951G>A uc003ede.3 + 14 1887 c.1810G>A c.(1810-1812)GAG>AAG p.E604K C3orf15_uc010hqz.2_Missense_Mutation_p.E542K|C3orf15_uc011bjd.1_Missense_Mutation_p.E478K|C3orf15_uc011bje.1_Missense_Mutation_p.E584K NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN AAT1-alpha 440 mitochondrion protein binding ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(114;0.186) CATGCTGGCTGAGCGCCAGCG 0.572 NA 33 78 0 0 0 0 KALRN 8997 broad.mit.edu 37 3 124398320 124398320 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr3:124398320G>A uc003ehg.2 + 51 7460 c.7333G>A c.(7333-7335)GAG>AAG p.E2445K KALRN_uc003ehk.2_Missense_Mutation_p.E748K NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 2444 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 GAACAGTTCCGAGGAATCAGA 0.428 NA 38 122 0 0 0 0 HLTF 6596 broad.mit.edu 37 3 148781271 148781271 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr3:148781271G>C uc003ewq.1 - 10 1325 c.1107C>G c.(1105-1107)ATC>ATG p.I369M HLTF_uc003ewr.1_Missense_Mutation_p.I369M|HLTF_uc003ews.1_Missense_Mutation_p.I369M|HLTF_uc010hve.1_Missense_Mutation_p.I369M NM_139048 NP_620636 Q14527 HLTF_HUMAN helicase-like transcription factor 369 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TCTTCTCCTTGATATCTGAAA 0.333 NA 25 61 0 0 0 0 TNIK 23043 broad.mit.edu 37 3 170786641 170786641 + Missense_Mutation SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr3:170786641G>T uc003fhh.2 - 30 4040 c.3695C>A c.(3694-3696)TCT>TAT p.S1232Y TNIK_uc003fhi.2_Missense_Mutation_p.S1177Y|TNIK_uc003fhj.2_Missense_Mutation_p.S1203Y|TNIK_uc003fhk.2_Missense_Mutation_p.S1224Y|TNIK_uc003fhl.2_Missense_Mutation_p.S1148Y|TNIK_uc003fhm.2_Missense_Mutation_p.S1169Y|TNIK_uc003fhn.2_Missense_Mutation_p.S1195Y|TNIK_uc003fho.2_Missense_Mutation_p.S1140Y|TNIK_uc003fhg.2_Missense_Mutation_p.S410Y|TNIK_uc003fhp.2_Missense_Mutation_p.S164Y NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 1232 CNH. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) ACTTACATGAGATGGTATGTA 0.363 NA 8 46 0.000157383 0.000166481 1 0 GRK4 2868 broad.mit.edu 37 4 3021418 3021418 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr4:3021418C>T uc003ggn.1 + 9 1247 c.792C>T c.(790-792)CTC>CTT p.L264L GRK4_uc003ggo.1_Silent_p.L264L|GRK4_uc003ggp.1_Silent_p.L232L|GRK4_uc003ggq.1_Silent_p.L232L NM_182982 NP_892027 P32298 GRK4_HUMAN G protein-coupled receptor kinase 4 isoform 264 Protein kinase. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GCTTGGTGCTCACCATTATGA 0.433 NA 44 60 0 0 0 0 STX18 53407 broad.mit.edu 37 4 4458949 4458949 + Silent SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr4:4458949G>T uc003gic.2 - 5 550 c.466C>A c.(466-468)CGA>AGA p.R156R NM_016930 NP_058626 Q9P2W9 STX18_HUMAN syntaxin 18 156 Cytoplasmic (Potential). ER to Golgi vesicle-mediated transport|intracellular protein transport endoplasmic reticulum membrane|Golgi membrane|integral to membrane SNAP receptor activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.0534) CTTTTAACTCGGATGGCTCTC 0.343 NA 7 26 3.1e-07 3.36e-07 1 0 BOD1L 259282 broad.mit.edu 37 4 13601055 13601055 + Nonsense_Mutation SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr4:13601055G>T uc003gmz.1 - 10 7586 c.7469C>A c.(7468-7470)TCA>TAA p.S2490* BOD1L_uc010idr.1_Nonsense_Mutation_p.S1827* NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 2490 DNA binding ovary(5)|breast(1) 6 CCTTCCTGCTGAATAACTTGC 0.507 NA OREG0016115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 49 1.62e-10 1.78e-10 1 0 UGT2A1 10941 broad.mit.edu 37 4 70512979 70512979 + Silent SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr4:70512979G>A uc003hem.3 - 1 447 c.384C>T c.(382-384)GGC>GGT p.G128G UGT2A1_uc011caq.1_Silent_p.G128G|UGT2A1_uc010ihu.2_Silent_p.G128G|UGT2A1_uc010iht.2_Silent_p.G128G NM_006798 NP_006789 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, 128 Extracellular (Potential). detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity|glucuronosyltransferase activity ovary(1) 1 TTTTAAGAACGCCATCACAGA 0.418 NA 19 36 0 0 0 0 CNOT6L 246175 broad.mit.edu 37 4 78641757 78641757 + Missense_Mutation SNP T T A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr4:78641757T>A uc011ccd.1 - 12 1627 c.1496A>T c.(1495-1497)AAC>ATC p.N499I CNOT6L_uc003hks.2_Missense_Mutation_p.N499I NM_144571 NP_653172 Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 499 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding large_intestine(1) 1 ACCAAGCACGTTCATATGAGT 0.428 NA 40 131 0 0 0 0 EGF 1950 broad.mit.edu 37 4 110866313 110866313 + Silent SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr4:110866313A>G uc003hzy.3 + 5 1274 c.822A>G c.(820-822)AAA>AAG p.K274K EGF_uc011cfu.1_Silent_p.K274K|EGF_uc011cfv.1_Silent_p.K274K NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 274 Extracellular (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) TAGCCAACAAACACACTGGAA 0.398 NA 7 23 0 0 0 0 DCHS2 54798 broad.mit.edu 37 4 155161884 155161884 + Silent SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr4:155161884A>G uc003inw.2 - 23 5799 c.5799T>C c.(5797-5799)AAT>AAC p.N1933N NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1933 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) TGGTTCCAGGATTACTCTCTT 0.383 NA 16 55 0 0 0 0 AHRR 57491 broad.mit.edu 37 5 422960 422960 + Silent SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr5:422960G>A uc003jav.2 + 6 614 c.570G>A c.(568-570)CCG>CCA p.P190P AHRR_uc003jaw.2_Silent_p.P186P|AHRR_uc010isy.2_Silent_p.P36P|AHRR_uc010isz.2_Silent_p.P186P|AHRR_uc003jax.2_Intron|AHRR_uc003jay.2_Silent_p.P46P NM_020731 NP_065782 A9YTQ3 AHRR_HUMAN arylhydrocarbon receptor repressor 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2) 2 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) GGCAGCCCCCGCCCTTGGAGA 0.592 NA 6 47 0 0 0 0 SPEF2 79925 broad.mit.edu 37 5 35692806 35692806 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr5:35692806G>A uc003jjo.2 + 12 1990 c.1879G>A c.(1879-1881)GAG>AAG p.E627K SPEF2_uc003jjq.3_Missense_Mutation_p.E627K|SPEF2_uc003jjp.1_Missense_Mutation_p.E118K NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 627 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) AGTTCTGCAAGAGGAGATTAA 0.393 NA 21 41 0 0 0 0 VCAN 1462 broad.mit.edu 37 5 82834175 82834175 + Nonsense_Mutation SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr5:82834175G>T uc003kii.3 + 8 5709 c.5353G>T c.(5353-5355)GAA>TAA p.E1785* VCAN_uc003kij.3_Nonsense_Mutation_p.E798*|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Nonsense_Mutation_p.E449* NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 1785 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GTCTGAAAGGGAAATGACAGA 0.403 NA 27 24 2.24e-21 2.53e-21 1 0 RASA1 5921 broad.mit.edu 37 5 86675622 86675622 + Nonsense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr5:86675622C>G uc003kiw.2 + 19 2676 c.2558C>G c.(2557-2559)TCA>TGA p.S853* RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.S676*|RASA1_uc011ctv.1_Nonsense_Mutation_p.S686*|RASA1_uc011ctw.1_Nonsense_Mutation_p.S687*|RASA1_uc010jaw.2_Nonsense_Mutation_p.S675* NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 853 Ras-GAP. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) AACATACTTTCAGAGCTTGTG 0.303 NA 14 17 0 0 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128984583 128984583 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr5:128984583G>C uc003kvb.1 + 13 2078 c.2078G>C c.(2077-2079)AGA>ACA p.R693T ADAMTS19_uc010jdh.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 693 Cys-rich. 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) CCTGGATTCAGAGACTGGCAA 0.448 NA 48 44 0 0 0 0 PCDHB9 56127 broad.mit.edu 37 5 140568765 140568765 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr5:140568765G>A uc003liw.1 + 3 1874 c.1874G>A c.(1873-1875)CGC>CAC p.R625H NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 625 Extracellular (Potential).|Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGGAGGTGCGCACCGCCAGG 0.692 NA 35 36 0 0 0 0 RNF14 9604 broad.mit.edu 37 5 141358012 141358012 + Nonsense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr5:141358012C>T uc003lly.2 + 4 490 c.451C>T c.(451-453)CAG>TAG p.Q151* RNF14_uc003llz.2_Nonsense_Mutation_p.Q151*|RNF14_uc003lma.2_Nonsense_Mutation_p.Q151*|RNF14_uc003lmb.2_Nonsense_Mutation_p.Q25*|RNF14_uc003lmc.2_Nonsense_Mutation_p.Q151*|RNF14_uc011dbg.1_Intron|RNF14_uc011dbh.1_Intron|RNF14_uc003lmd.2_Nonsense_Mutation_p.Q151* NM_183399 NP_899646 Q9UBS8 RNF14_HUMAN ring finger protein 14 isoform 1 151 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding 0 all_hematologic(541;0.0536)|Ovarian(839;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) GATTGGTTCTCAGAAAAAAGT 0.463 NA 11 11 0 0 0 0 RNF14 9604 broad.mit.edu 37 5 141358039 141358039 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr5:141358039C>G uc003lly.2 + 4 517 c.478C>G c.(478-480)CAA>GAA p.Q160E RNF14_uc003llz.2_Missense_Mutation_p.Q160E|RNF14_uc003lma.2_Missense_Mutation_p.Q160E|RNF14_uc003lmb.2_Missense_Mutation_p.Q34E|RNF14_uc003lmc.2_Missense_Mutation_p.Q160E|RNF14_uc011dbg.1_Intron|RNF14_uc011dbh.1_Intron|RNF14_uc003lmd.2_Missense_Mutation_p.Q160E NM_183399 NP_899646 Q9UBS8 RNF14_HUMAN ring finger protein 14 isoform 1 160 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding 0 all_hematologic(541;0.0536)|Ovarian(839;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) AAGGACAGCTCAAGCTTCTCC 0.443 NA 6 15 0 0 0 0 HIST1H2BB 3018 broad.mit.edu 37 6 26043802 26043802 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:26043802C>G uc003nfu.2 - 1 84 c.84G>C c.(82-84)AAG>AAC p.K28N HIST1H3C_uc003nfv.2_5'Flank NM_021062 NP_066406 P33778 H2B1B_HUMAN histone cluster 1, H2bb 28 nucleosome assembly nucleosome|nucleus DNA binding 0 GCTTACGCTTCTTACCATCCT 0.507 NA 38 117 0 0 0 0 HIST1H3D 8351 broad.mit.edu 37 6 26197074 26197074 + Missense_Mutation SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:26197074C>A uc003ngv.2 - 2 802 c.405G>T c.(403-405)AGG>AGT p.R135S HIST1H2BF_uc003ngx.2_5'Flank NM_003530 NP_003521 P68431 H31_HUMAN histone cluster 1, H3d 135 Missing (in Ref. 2; AAA52651). blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.196) CAATTTACGCCCTCTCCCCAC 0.502 NA 28 40 7.26e-15 8.1e-15 1 0 DDR1 780 broad.mit.edu 37 6 30859860 30859860 + Silent SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:30859860C>G uc003nrr.2 + 8 1006 c.747C>G c.(745-747)GTC>GTG p.V249V DDR1_uc010jse.2_Silent_p.V249V|DDR1_uc003nrq.2_Silent_p.V249V|DDR1_uc003nrs.2_Silent_p.V249V|DDR1_uc003nrt.2_Silent_p.V249V|DDR1_uc011dms.1_Silent_p.V267V|DDR1_uc003nru.2_Silent_p.V249V|DDR1_uc011dmu.1_Missense_Mutation_p.S216C|DDR1_uc003nrv.2_Silent_p.V249V|DDR1_uc003nrw.1_Silent_p.V48V|DDR1_uc003nry.1_5'Flank|DDR1_uc003nrx.1_5'Flank NM_013993 NP_054699 Q08345 DDR1_HUMAN discoidin domain receptor family, member 1 249 Extracellular (Potential). cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1) 9 Imatinib(DB00619) AGCTGCGGGTCTGGCCAGGCT 0.577 NA 54 89 0 0 0 0 DDR1 780 broad.mit.edu 37 6 30860256 30860256 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:30860256C>T uc003nrr.2 + 9 1295 c.1036C>T c.(1036-1038)CTG>TTG p.L346L DDR1_uc010jse.2_Silent_p.L346L|DDR1_uc003nrq.2_Silent_p.L346L|DDR1_uc003nrs.2_Silent_p.L346L|DDR1_uc003nrt.2_Silent_p.L346L|DDR1_uc011dms.1_Silent_p.L364L|DDR1_uc003nru.2_Silent_p.L346L|DDR1_uc003nrv.2_Silent_p.L346L|DDR1_uc003nrw.1_Silent_p.L145L|DDR1_uc003nry.1_5'Flank|DDR1_uc003nrx.1_5'Flank NM_013993 NP_054699 Q08345 DDR1_HUMAN discoidin domain receptor family, member 1 346 Extracellular (Potential). cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1) 9 Imatinib(DB00619) GGCTCGCTTTCTGCAGTGCCG 0.637 NA 35 33 0 0 0 0 DDR1 780 broad.mit.edu 37 6 30862324 30862324 + Silent SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:30862324C>G uc003nrr.2 + 12 1648 c.1389C>G c.(1387-1389)CTC>CTG p.L463L DDR1_uc010jse.2_Silent_p.L463L|DDR1_uc003nrq.2_Silent_p.L463L|DDR1_uc003nrs.2_Silent_p.L463L|DDR1_uc003nrt.2_Silent_p.L463L|DDR1_uc011dms.1_Silent_p.L481L|DDR1_uc003nru.2_Silent_p.L463L|DDR1_uc003nrv.2_Silent_p.L463L|DDR1_uc003nrw.1_Intron|DDR1_uc003nry.1_RNA|DDR1_uc003nrx.1_Intron|DDR1_uc003nrz.1_5'Flank NM_013993 NP_054699 Q08345 DDR1_HUMAN discoidin domain receptor family, member 1 463 Cytoplasmic (Potential). cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1) 9 Imatinib(DB00619) CGGTTCACCTCTCTGTCCCTG 0.587 NA 46 52 0 0 0 0 CCHCR1 54535 broad.mit.edu 37 6 31118878 31118878 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:31118878G>C uc003nsr.3 - 5 679 c.556C>G c.(556-558)CAC>GAC p.H186D CCHCR1_uc011dne.1_Missense_Mutation_p.H186D|CCHCR1_uc003nsq.3_Missense_Mutation_p.H239D|CCHCR1_uc003nsp.3_Missense_Mutation_p.H275D|CCHCR1_uc010jsk.1_Missense_Mutation_p.H186D NM_019052 NP_061925 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 isoform 186 Potential. cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding skin(1) 1 GCCTCCTCGTGAGCCTGTGTC 0.572 NA 41 146 0 0 0 0 MOCS1 4337 broad.mit.edu 37 6 39874211 39874211 + Silent SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:39874211G>T uc003opb.2 - 10 1971 c.1833C>A c.(1831-1833)GTC>GTA p.V611V MOCS1_uc003opa.2_3'UTR|MOCS1_uc003opc.2_Silent_p.V595V|MOCS1_uc003opd.2_3'UTR|MOCS1_uc003ope.2_Silent_p.V508V NM_005942 NP_005933 Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis-step 1 protein 611 Molybdenum cofactor biosynthesis protein C. Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding ovary(1)|liver(1)|central_nervous_system(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) TGTCCCTGCTGACAGCCTTGC 0.627 NA 72 96 3.61e-23 4.09e-23 1 0 CUL7 9820 broad.mit.edu 37 6 43007895 43007895 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:43007895C>G uc003otq.2 - 22 4596 c.4293G>C c.(4291-4293)AAG>AAC p.K1431N CUL7_uc010jyg.2_Missense_Mutation_p.K710N|CUL7_uc011dvb.1_Missense_Mutation_p.K1515N|CUL7_uc010jyh.2_Missense_Mutation_p.K424N|KLC4_uc003otr.1_5'Flank NM_014780 NP_055595 Q14999 CUL7_HUMAN cullin 7 1431 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding ovary(3)|kidney(1) 4 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GCTGCTCACTCTTGTTGTAGA 0.592 NA 23 112 0 0 0 0 CUL7 9820 broad.mit.edu 37 6 43008291 43008291 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:43008291C>T uc003otq.2 - 21 4303 c.4000G>A c.(4000-4002)GAG>AAG p.E1334K CUL7_uc010jyg.2_Missense_Mutation_p.E613K|CUL7_uc011dvb.1_Missense_Mutation_p.E1418K|CUL7_uc010jyh.2_Missense_Mutation_p.E327K|KLC4_uc003otr.1_5'Flank NM_014780 NP_055595 Q14999 CUL7_HUMAN cullin 7 1334 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding ovary(3)|kidney(1) 4 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) TCTGTATCCTCCAGCTTCAGG 0.567 NA 57 187 0 0 0 0 SPATS1 221409 broad.mit.edu 37 6 44337822 44337822 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:44337822C>G uc003oxk.2 + 6 1077 c.730C>G c.(730-732)CCA>GCA p.P244A SPATS1_uc003oxg.2_RNA|SPATS1_uc010jzb.2_Missense_Mutation_p.P129A NM_145026 NP_659463 Q496A3 SPAS1_HUMAN spermatogenesis associated, serine-rich 1 244 skin(1) 1 all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TACATTTATTCCACTTGAGCC 0.323 NA 42 54 0 0 0 0 DST 667 broad.mit.edu 37 6 56338733 56338733 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:56338733C>T uc003pdf.2 - 87 15603 c.15575G>A c.(15574-15576)AGA>AAA p.R5192K DST_uc003pcz.3_Missense_Mutation_p.R5014K|DST_uc011dxj.1_Missense_Mutation_p.R5043K|DST_uc011dxk.1_Missense_Mutation_p.R5054K|DST_uc003pcy.3_Missense_Mutation_p.R4688K NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 7100 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATCAGCAGCTCTCCTCTTATA 0.373 NA 11 5 0 0 0 0 ZUFSP 221302 broad.mit.edu 37 6 116968707 116968707 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:116968707C>G uc003pxf.1 - 8 1629 c.1383G>C c.(1381-1383)TGG>TGC p.W461C ZUFSP_uc010kef.1_Missense_Mutation_p.W265C NM_145062 NP_659499 Q96AP4 ZUFSP_HUMAN zinc finger with UFM1-specific peptidase domain 461 intracellular zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186) AGTTCAATATCCATTCAAATA 0.353 NA 21 54 0 0 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151161325 151161325 + Nonsense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:151161325C>T uc003qny.1 + 17 3763 c.3451C>T c.(3451-3453)CAG>TAG p.Q1151* PLEKHG1_uc011eem.1_Nonsense_Mutation_p.Q1210* NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G 1151 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) GGTAGTAAGTCAGCCCAACAA 0.522 NA 25 114 0 0 0 0 SERAC1 84947 broad.mit.edu 37 6 158535902 158535902 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:158535902G>A uc003qrc.2 - 15 1745 c.1603C>T c.(1603-1605)CAT>TAT p.H535Y SERAC1_uc003qrb.2_Missense_Mutation_p.H263Y NM_032861 NP_116250 Q96JX3 SRAC1_HUMAN serine active site containing 1 535 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds 0 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) CGTGATCCATGATGAGGGACA 0.383 NA 62 110 0 0 0 0 TTLL2 83887 broad.mit.edu 37 6 167753771 167753771 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:167753771C>T uc003qvs.1 + 3 471 c.383C>T c.(382-384)TCC>TTC p.S128F TTLL2_uc011egr.1_RNA NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 128 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TGGAGGACATCCTCTTTCCGA 0.537 NA 5 24 0 0 0 0 DNAH11 8701 broad.mit.edu 37 7 21847506 21847506 + Missense_Mutation SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr7:21847506A>G uc003svc.2 + 64 10223 c.10192A>G c.(10192-10194)ATT>GTT p.I3398V NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3398 Potential.|Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GTCAGAGAAGATTCGCTGGGG 0.443 NA Kartagener_syndrome 15 14 0 0 0 0 DFNA5 1687 broad.mit.edu 37 7 24784316 24784316 + Missense_Mutation SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr7:24784316C>A uc010kus.1 - 3 357 c.269G>T c.(268-270)GGA>GTA p.G90V DFNA5_uc003swz.2_5'UTR|DFNA5_uc003sxa.1_Missense_Mutation_p.G90V|DFNA5_uc010kut.1_5'UTR|DFNA5_uc003sxb.2_Missense_Mutation_p.G90V|DFNA5_uc003sxc.2_Missense_Mutation_p.G90V NM_001127453 NP_001120925 O60443 DFNA5_HUMAN deafness, autosomal dominant 5 protein isoform 90 sensory perception of sound ovary(1) 1 CTCCAGGGTTCCACTCACGTG 0.562 NA 50 48 7.9e-26 8.96e-26 1 0 CYCS 54205 broad.mit.edu 37 7 25163649 25163649 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr7:25163649C>T uc003sxl.2 - 2 235 c.90G>A c.(88-90)GGG>GGA p.G30G NM_018947 NP_061820 P99999 CYC_HUMAN cytochrome c 30 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding ovary(1)|lung(1) 2 Melatonin(DB01065)|Minocycline(DB01017) GGAGATTTGGCCCAGTCTTGT 0.443 NA 4 86 0 0 0 0 POM121L12 285877 broad.mit.edu 37 7 53103452 53103453 + Missense_Mutation DNP GC GC AA TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr7:53103452_53103453GC>AA uc003tpz.2 + 1 104_105 c.88_89GC>AA c.(88-90)GCG>AAG p.A30K NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 30 0 CGACGCCCTGGCGGCTCCCATG 0.693 NA 13 42 0 0 0 0 POM121L12 285877 broad.mit.edu 37 7 53103987 53103987 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr7:53103987G>A uc003tpz.2 + 1 639 c.623G>A c.(622-624)CGG>CAG p.R208Q NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 208 0 GGTGGCAGGCGGAACCTGCAG 0.667 NA 42 59 0 0 0 0 MAGI2 9863 broad.mit.edu 37 7 78636436 78636436 + Missense_Mutation SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr7:78636436G>T uc003ugx.2 - 2 642 c.388C>A c.(388-390)CGT>AGT p.R130S MAGI2_uc003ugy.2_Missense_Mutation_p.R130S NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 130 Guanylate kinase-like. cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) AGGTTGTCACGAATGATTTGC 0.363 NA 27 34 4.88e-14 5.41e-14 1 0 INTS10 55174 broad.mit.edu 37 8 19681434 19681434 + Missense_Mutation SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:19681434A>G uc003wzj.2 + 7 846 c.715A>G c.(715-717)AAG>GAG p.K239E NM_018142 NP_060612 Q9NVR2 INT10_HUMAN integrator complex subunit 10 239 snRNA processing integrator complex protein binding ovary(1) 1 Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215) TAGCTCTCAGAAGTACATAAT 0.398 NA 24 50 0 0 0 0 TRPA1 8989 broad.mit.edu 37 8 72958791 72958791 + Missense_Mutation SNP G G T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:72958791G>T uc003xza.2 - 17 2193 c.2018C>A c.(2017-2019)ACA>AAA p.T673K uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 673 Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) CTGTGTAGGTGTTTTTTTGGT 0.269 NA 19 45 3.88e-16 4.35e-16 1 0 TRPA1 8989 broad.mit.edu 37 8 72958807 72958807 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:72958807C>G uc003xza.2 - 17 2177 c.2002G>C c.(2002-2004)GAA>CAA p.E668Q uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 668 Cytoplasmic (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) TTGGTGAATTCTAATGGACAT 0.294 NA 11 38 0 0 0 0 FZD6 8323 broad.mit.edu 37 8 104343656 104343656 + Silent SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:104343656C>G uc003ylh.2 + 7 2324 c.2040C>G c.(2038-2040)CTC>CTG p.L680L FZD6_uc003ylj.2_Silent_p.L680L|FZD6_uc011lhn.1_Silent_p.L646L|FZD6_uc011lho.1_Silent_p.L375L|FZD6_uc011lhp.1_Silent_p.L625L NM_003506 NP_003497 O60353 FZD6_HUMAN frizzled 6 isoform a precursor 680 Cytoplasmic (Potential). angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) CAAGCAGCCTCAAAGGTTCCA 0.448 NA 34 105 0 0 0 0 TRPS1 7227 broad.mit.edu 37 8 116631735 116631735 + Nonsense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:116631735G>C uc003ynz.2 - 2 1010 c.551C>G c.(550-552)TCA>TGA p.S184* TRPS1_uc011lhy.1_Nonsense_Mutation_p.S188*|TRPS1_uc003yny.2_Nonsense_Mutation_p.S197*|TRPS1_uc010mcy.2_Nonsense_Mutation_p.S184* NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 184 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TGGGTTTTTTGAGGCCACTGA 0.483 NA Langer-Giedion_syndrome 21 139 0 0 0 0 PHF20L1 51105 broad.mit.edu 37 8 133837598 133837598 + Missense_Mutation SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:133837598A>G uc003ytt.2 + 14 2051 c.1726A>G c.(1726-1728)AAG>GAG p.K576E PHF20L1_uc011lja.1_Missense_Mutation_p.K550E|PHF20L1_uc003ytu.1_RNA NM_016018 NP_057102 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 isoform 1 576 Lys-rich. nucleic acid binding|zinc ion binding ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) aaaaaagaaaaagaaATCTAA 0.199 NA 7 0 0 0 0 0 PLEC 5339 broad.mit.edu 37 8 144995066 144995066 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:144995066C>G uc003zaf.1 - 32 9504 c.9334G>C c.(9334-9336)GAG>CAG p.E3112Q PLEC_uc003zab.1_Missense_Mutation_p.E2975Q|PLEC_uc003zac.1_Missense_Mutation_p.E2979Q|PLEC_uc003zad.2_Missense_Mutation_p.E2975Q|PLEC_uc003zae.1_Missense_Mutation_p.E2943Q|PLEC_uc003zag.1_Missense_Mutation_p.E2953Q|PLEC_uc003zah.2_Missense_Mutation_p.E2961Q|PLEC_uc003zaj.2_Missense_Mutation_p.E3002Q NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3112 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CGCAGGCCCTCAAAGCAAAGC 0.647 NA 13 35 0 0 0 0 PLEC 5339 broad.mit.edu 37 8 144995127 144995127 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:144995127C>G uc003zaf.1 - 32 9443 c.9273G>C c.(9271-9273)AAG>AAC p.K3091N PLEC_uc003zab.1_Missense_Mutation_p.K2954N|PLEC_uc003zac.1_Missense_Mutation_p.K2958N|PLEC_uc003zad.2_Missense_Mutation_p.K2954N|PLEC_uc003zae.1_Missense_Mutation_p.K2922N|PLEC_uc003zag.1_Missense_Mutation_p.K2932N|PLEC_uc003zah.2_Missense_Mutation_p.K2940N|PLEC_uc003zaj.2_Missense_Mutation_p.K2981N NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3091 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 TCTTGATGATCTTCTCCACTG 0.622 NA 17 53 0 0 0 0 PLEC 5339 broad.mit.edu 37 8 144995409 144995409 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:144995409C>T uc003zaf.1 - 32 9161 c.8991G>A c.(8989-8991)GAG>GAA p.E2997E PLEC_uc003zab.1_Silent_p.E2860E|PLEC_uc003zac.1_Silent_p.E2864E|PLEC_uc003zad.2_Silent_p.E2860E|PLEC_uc003zae.1_Silent_p.E2828E|PLEC_uc003zag.1_Silent_p.E2838E|PLEC_uc003zah.2_Silent_p.E2846E|PLEC_uc003zaj.2_Silent_p.E2887E NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2997 Globular 2.|Plectin 5. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 ACGTGAGGTTCTCGTGCGTGT 0.657 NA 31 128 0 0 0 0 PLEC 5339 broad.mit.edu 37 8 144996152 144996152 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:144996152C>G uc003zaf.1 - 32 8418 c.8248G>C c.(8248-8250)GAG>CAG p.E2750Q PLEC_uc003zab.1_Missense_Mutation_p.E2613Q|PLEC_uc003zac.1_Missense_Mutation_p.E2617Q|PLEC_uc003zad.2_Missense_Mutation_p.E2613Q|PLEC_uc003zae.1_Missense_Mutation_p.E2581Q|PLEC_uc003zag.1_Missense_Mutation_p.E2591Q|PLEC_uc003zah.2_Missense_Mutation_p.E2599Q|PLEC_uc003zaj.2_Missense_Mutation_p.E2640Q NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2750 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GTGACCTCCTCTGAGTGCGCC 0.632 NA 4 45 0 0 0 0 PLEC 5339 broad.mit.edu 37 8 144996219 144996219 + Silent SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:144996219C>T uc003zaf.1 - 32 8351 c.8181G>A c.(8179-8181)GAG>GAA p.E2727E PLEC_uc003zab.1_Silent_p.E2590E|PLEC_uc003zac.1_Silent_p.E2594E|PLEC_uc003zad.2_Silent_p.E2590E|PLEC_uc003zae.1_Silent_p.E2558E|PLEC_uc003zag.1_Silent_p.E2568E|PLEC_uc003zah.2_Silent_p.E2576E|PLEC_uc003zaj.2_Silent_p.E2617E NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2727 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 GCCTCTGGTTCTCCTCAGCCA 0.547 NA 4 27 0 0 0 0 PLEC 5339 broad.mit.edu 37 8 144996395 144996395 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:144996395C>T uc003zaf.1 - 32 8175 c.8005G>A c.(8005-8007)GAG>AAG p.E2669K PLEC_uc003zab.1_Missense_Mutation_p.E2532K|PLEC_uc003zac.1_Missense_Mutation_p.E2536K|PLEC_uc003zad.2_Missense_Mutation_p.E2532K|PLEC_uc003zae.1_Missense_Mutation_p.E2500K|PLEC_uc003zag.1_Missense_Mutation_p.E2510K|PLEC_uc003zah.2_Missense_Mutation_p.E2518K|PLEC_uc003zaj.2_Missense_Mutation_p.E2559K NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2669 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 tgctgctCCTCACGCAGCTGC 0.517 NA 9 8 0 0 0 0 SLC39A4 55630 broad.mit.edu 37 8 145638738 145638738 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:145638738C>T uc003zcq.2 - 10 1610 c.1510G>A c.(1510-1512)GAC>AAC p.D504N SLC39A4_uc003zcm.1_Missense_Mutation_p.D6N|SLC39A4_uc003zcn.2_Missense_Mutation_p.D6N|SLC39A4_uc003zco.2_Missense_Mutation_p.D228N|SLC39A4_uc003zcp.2_Missense_Mutation_p.D479N NM_130849 NP_570901 Q6P5W5 S39A4_HUMAN solute carrier family 39 (zinc transporter), 504 Cytoplasmic (Potential). cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) TGCACGGCGTCGCCCAGAGTG 0.697 NA 8 27 0 0 0 0 DDX58 23586 broad.mit.edu 37 9 32493813 32493813 + Silent SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr9:32493813G>A uc003zra.2 - 3 527 c.369C>T c.(367-369)ATC>ATT p.I123I DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Silent_p.I78I|DDX58_uc011lnr.1_5'UTR|DDX58_uc010mji.2_Silent_p.I52I NM_014314 NP_055129 O95786 DDX58_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 123 CARD 2. detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding ovary(2)|liver(1)|pancreas(1) 4 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) GATCAGAAATGATATCGGTTG 0.274 NA 26 23 0 0 0 0 GRIN3A 116443 broad.mit.edu 37 9 104499666 104499666 + Missense_Mutation SNP A A G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr9:104499666A>G uc004bbp.1 - 1 1197 c.596T>C c.(595-597)TTC>TCC p.F199S GRIN3A_uc004bbq.1_Missense_Mutation_p.F199S NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 199 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GCTCTGGGGGAAGGCGAGCAG 0.587 NA 3 100 0 0 0 0 RALGDS 5900 broad.mit.edu 37 9 136030585 136030585 + Missense_Mutation SNP G G A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr9:136030585G>A uc011mcw.1 - 6 657 c.376C>T c.(376-378)CAC>TAC p.H126Y GBGT1_uc004ccx.2_Silent_p.V66V|GBGT1_uc010nab.2_Missense_Mutation_p.H126Y|GBGT1_uc011mcx.1_Silent_p.V96V|GBGT1_uc004ccw.2_Silent_p.V113V|GBGT1_uc010nac.1_5'UTR|GBGT1_uc004ccy.1_Silent_p.V113V NM_001042368 NP_001035827 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator Error:Variant_position_missing_in_Q12967_after_alignment nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity large_intestine(1)|lung(1)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) CAAACACCGTGACCCCAATGG 0.587 NA T CIITA PMBL|Hodgkin Lymphona| 35 56 0 0 0 0 NOTCH1 4851 broad.mit.edu 37 9 139400138 139400138 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr9:139400138C>T uc004chz.2 - 25 4210 c.4210G>A c.(4210-4212)GAG>AAG p.E1404K NOTCH1_uc004cia.1_Missense_Mutation_p.E634K NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 1404 Extracellular (Potential).|EGF-like 36. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GATGTGGGCTCACAGGTCCCC 0.677 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 35 49 0 0 0 0 ABCA2 20 broad.mit.edu 37 9 139910605 139910605 + Missense_Mutation SNP G G C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr9:139910605G>C uc011mem.1 - 21 3271 c.3123C>G c.(3121-3123)TTC>TTG p.F1041L ABCA2_uc011mel.1_Missense_Mutation_p.F1042L|ABCA2_uc004ckl.1_Missense_Mutation_p.F972L|ABCA2_uc004ckm.1_Missense_Mutation_p.F1072L|ABCA2_uc004ckn.1_RNA NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 1041 ABC transporter 1. cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) ACGTTGGAGGGAACAGGCCGG 0.652 NA 44 63 0 0 0 0 BEND2 139105 broad.mit.edu 37 X 18183158 18183158 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chrX:18183158C>G uc004cyj.3 - 14 2525 c.2371G>C c.(2371-2373)GAT>CAT p.D791H NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 791 ovary(3)|kidney(1)|central_nervous_system(1) 5 GCGTCGGGATCTCCTGGCTTT 0.478 NA 64 43 0 0 0 0 ZNF182 7569 broad.mit.edu 37 X 47837109 47837109 + Missense_Mutation SNP T T C TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chrX:47837109T>C uc004dir.2 - 7 723 c.377A>G c.(376-378)AAG>AGG p.K126R ZNF182_uc004dis.2_Missense_Mutation_p.K107R|ZNF182_uc004dit.2_Missense_Mutation_p.K126R|ZNF182_uc011mlu.1_Missense_Mutation_p.K106R NM_006962 NP_008893 P17025 ZN182_HUMAN zinc finger protein 21 isoform 1 126 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 AATTGTTTTCTTGTCAGAAAA 0.383 NA 14 8 0 0 0 0 HUWE1 10075 broad.mit.edu 37 X 53560308 53560308 + Missense_Mutation SNP C C A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chrX:53560308C>A uc004dsp.2 - 84 13489 c.13087G>T c.(13087-13089)GCT>TCT p.A4363S HUWE1_uc004dsn.2_Missense_Mutation_p.A3171S NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 4363 HECT. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 TCCTGGATAGCCAACAGTAGC 0.512 NA 8 5 0.000157383 0.000166481 1 0 HUWE1 10075 broad.mit.edu 37 X 53589155 53589155 + Missense_Mutation SNP C C T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chrX:53589155C>T uc004dsp.2 - 54 7657 c.7255G>A c.(7255-7257)GAG>AAG p.E2419K HUWE1_uc004dsn.2_Missense_Mutation_p.E1243K NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 2419 Glu-rich. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 CTGCTGTCCTCTTCCTGAGTG 0.403 NA 17 12 0 0 0 0 PCDH19 57526 broad.mit.edu 37 X 99657785 99657785 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chrX:99657785C>G uc010nmz.2 - 3 4029 c.2353G>C c.(2353-2355)GAC>CAC p.D785H PCDH19_uc004efw.3_Missense_Mutation_p.D738H|PCDH19_uc004efx.3_Missense_Mutation_p.D738H NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 785 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 AGGCGGATGTCATTCTTACTG 0.448 NA 10 14 0 0 0 0 NKAP 79576 broad.mit.edu 37 X 119066103 119066103 + Missense_Mutation SNP C C G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chrX:119066103C>G uc004esh.2 - 6 981 c.814G>C c.(814-816)GAG>CAG p.E272Q NKAP_uc004esg.2_Missense_Mutation_p.E159Q NM_024528 NP_078804 Q8N5F7 NKAP_HUMAN NFKB activating protein 272 Necessary for interaction with CIR1. negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding ovary(2) 2 TCCAGAAACTCTTCTTGGGAT 0.353 NA 74 51 0 0 0 0 LRRC7 57554 broad.mit.edu 37 1 70504339 70504340 + Frame_Shift_Ins INS - - A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:70504339_70504340insA uc001dep.2 + 19 2748_2749 c.2718_2719insA c.(2716-2721)AGTAATfs p.S906fs LRRC7_uc009wbg.2_Frame_Shift_Ins_p.S190fs|LRRC7_uc001deq.2_Frame_Shift_Ins_p.S147fs NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 906_907 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 GGAGTCTTAGTAATGTCTTTTC 0.401 NA 10 64 --- --- --- --- NA NA NA NA TUFT1 7286 broad.mit.edu 37 1 151542192 151542206 + In_Frame_Del DEL GGCCAAGCTTCAGGA GGCCAAGCTTCAGGA - rs149655288 TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr1:151542192_151542206delGGCCAAGCTTCAGGA uc001eyl.2 + 7 602_616 c.540_554delGGCCAAGCTTCAGGA c.(538-555)CTGGCCAAGCTTCAGGAG>CTG p.AKLQE181del TUFT1_uc001eym.2_In_Frame_Del_p.AKLQE156del|TUFT1_uc010pdf.1_In_Frame_Del_p.AKLQE200del|TUFT1_uc010pdg.1_In_Frame_Del_p.AKLQE129del NM_020127 NP_064512 Q9NNX1 TUFT1_HUMAN tuftelin 1 isoform 1 181_185 Potential. bone mineralization|odontogenesis cytoplasm|extracellular region structural constituent of tooth enamel 0 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) AGGACTTGCTGGCCAAGCTTCAGGAGGCCAAGCGG 0.54 NA 39 203 --- --- --- --- NA NA NA NA MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr11:12316384_12316389delCTCCTA uc001mkg.1 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)CCTCCTACA>CCA p.PT470del NM_032867 NP_116256 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 470_471 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding skin(1) 1 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.432 NA 8 3 --- --- --- --- NA NA NA NA MTHFD1 4522 broad.mit.edu 37 14 64906869 64906879 + Frame_Shift_Del DEL GTGAAATTATG GTGAAATTATG - TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr14:64906869_64906879delGTGAAATTATG uc001xhb.2 + 18 2087_2097 c.1700_1710delGTGAAATTATG c.(1699-1710)AGTGAAATTATGfs p.S567fs MTHFD1_uc010aqe.2_Frame_Shift_Del_p.S603fs|MTHFD1_uc010aqf.2_Frame_Shift_Del_p.S623fs NM_005956 NP_005947 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase 1 567_570 Formyltetrahydrofolate synthetase. folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process cytosol|mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488) NADH(DB00157)|Tetrahydrofolic acid(DB00116) TCTGTGGCCAGTGAAATTATGGCTGTCCTGG 0.479 NA 24 38 --- --- --- --- NA NA NA NA TNRC6A 27327 broad.mit.edu 37 16 24802886 24802887 + Frame_Shift_Ins INS - - T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr16:24802886_24802887insT uc002dmm.2 + 6 3037_3038 c.2923_2924insT c.(2923-2925)ATAfs p.I975fs TNRC6A_uc010bxs.2_Frame_Shift_Ins_p.I722fs|TNRC6A_uc010vcc.1_Frame_Shift_Ins_p.I722fs|TNRC6A_uc002dmn.2_Frame_Shift_Ins_p.I722fs|TNRC6A_uc002dmo.2_Frame_Shift_Ins_p.I722fs NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 975 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) GGGGGGACCTATACCAGCCCCA 0.525 NA 27 47 --- --- --- --- NA NA NA NA RALGAPA2 57186 broad.mit.edu 37 20 20621406 20621407 + Frame_Shift_Ins INS - - A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr20:20621406_20621407insA uc002wrz.2 - 6 631_632 c.488_489insT c.(487-489)ATGfs p.M163fs RALGAPA2_uc010zsg.1_5'UTR NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 163 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 CCCTGGATGACATGACTGCTGG 0.485 NA 22 84 --- --- --- --- NA NA NA NA NCOA3 8202 broad.mit.edu 37 20 46279864 46279866 + In_Frame_Del DEL CAA CAA - rs67218125 TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr20:46279864_46279866delCAA uc002xtk.2 + 20 3995_3997 c.3790_3792delCAA c.(3790-3792)CAAdel p.Q1276del NCOA3_uc010ght.1_In_Frame_Del_p.Q1267del|NCOA3_uc002xtl.2_In_Frame_Del_p.Q1272del|NCOA3_uc002xtm.2_In_Frame_Del_p.Q1271del|NCOA3_uc002xtn.2_In_Frame_Del_p.Q1275del|NCOA3_uc010zyc.1_In_Frame_Del_p.Q1071del NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 1276 Poly-Gln.|Acetyltransferase. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 gcagcagcagcaacagcaacagc 0.31 NA 12 93 --- --- --- --- NA NA NA NA NCAPG 64151 broad.mit.edu 37 4 17841312 17841313 + Frame_Shift_Ins INS - - T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr4:17841312_17841313insT uc003gpp.2 + 17 2656_2657 c.2480_2481insT c.(2479-2481)CATfs p.H827fs NCAPG_uc011bxj.1_Frame_Shift_Ins_p.H336fs NM_022346 NP_071741 Q9BPX3 CND3_HUMAN chromosome condensation protein G 827 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding large_intestine(1) 1 STAD - Stomach adenocarcinoma(129;0.18) TTAACAGTACATGACAATTTGG 0.312 NA 9 31 --- --- --- --- NA NA NA NA PET112L 5188 broad.mit.edu 37 4 152593929 152593930 + Frame_Shift_Ins INS - - T TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr4:152593929_152593930insT uc003iml.2 - 12 1541_1542 c.1529_1530insA c.(1528-1530)GAGfs p.E510fs PET112L_uc003imk.2_RNA NM_004564 NP_004555 O75879 GATB_HUMAN PET112-like precursor 510 mitochondrion ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding 0 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GAGGATGGGCCTCCATCACAGA 0.609 NA 17 35 --- --- --- --- NA NA NA NA DDX43 55510 broad.mit.edu 37 6 74114465 74114466 + Frame_Shift_Ins INS - - A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr6:74114465_74114466insA uc003pgw.2 + 5 965_966 c.621_622insA c.(619-624)GCCATGfs p.A207fs DDX43_uc011dyn.1_Intron NM_018665 NP_061135 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 207_208 intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 CCACAAGTGCCATGTCAAAAGT 0.361 NA 75 102 --- --- --- --- NA NA NA NA PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr8:110455173_110455174insG uc003yne.2 + 36 4498 c.4394_splice c.e36-1 p.G1465_splice NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 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) ATTTTATGGCAGGTTCATTTTC 0.322 NA HNSCC(38;0.096) 8 126 --- --- --- --- NA NA NA NA ACO1 48 broad.mit.edu 37 9 32448900 32448900 + Frame_Shift_Del DEL A A - TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr9:32448900delA uc003zqw.3 + 20 2532 c.2377delA c.(2377-2379)AAAfs p.K793fs ACO1_uc003zqx.3_Frame_Shift_Del_p.K793fs|ACO1_uc003zqy.3_RNA NM_002197 NP_002188 P21399 ACOC_HUMAN aconitase 1 793 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding 0 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) TCAGGGAATCAAAGCCGTCCT 0.448 NA 34 24 --- --- --- --- NA NA NA NA NOTCH1 4851 broad.mit.edu 37 9 139410477 139410477 + Frame_Shift_Del DEL T T - TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chr9:139410477delT uc004chz.2 - 10 1625 c.1625delA c.(1624-1626)AAGfs p.K542fs NOTCH1_uc004cia.1_5'Flank NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 542 Extracellular (Potential).|EGF-like 14; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GTCCAGGCACTTGGCACCATT 0.667 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 54 17 --- --- --- --- NA NA NA NA FLNA 2316 broad.mit.edu 37 X 153580304 153580305 + Frame_Shift_Del DEL AA AA - TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ec114413-a950-4e74-abc8-98857af8b9ad 247b7339-48fe-485b-8266-1e8488d1527d g.chrX:153580304_153580305delAA uc004fkk.2 - 42 7103_7104 c.6854_6855delTT c.(6853-6855)TTTfs p.F2285fs FLNA_uc004fki.2_Frame_Shift_Del_p.F328fs|FLNA_uc011mzn.1_Frame_Shift_Del_p.F418fs|FLNA_uc010nuu.1_Frame_Shift_Del_p.F2277fs NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 2285 Filamin 21. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGCGGTCCTCAAAAGAGATCTC 0.619 NA 40 22 --- --- --- --- NA NA NA NA