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 MST1P9 11223 broad.mit.edu 37 1 17084961 17084961 + Missense_Mutation SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr1:17084961C>T uc010ock.1 - 11 1514 c.1514G>A c.(1513-1515)CGC>CAC p.R505H CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_Missense_Mutation_p.R79Q NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 TGTGCCTCACCGATTCCGCAA 0.622 ZNF642 339559 broad.mit.edu 37 1 40945132 40945132 + Silent SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr1:40945132G>A uc001cfo.2 + 2 393 c.99G>A c.(97-99)GAG>GAA p.E33E ZNF642_uc009vwb.2_Silent_p.E33E|ZNF642_uc010ojk.1_Silent_p.E33E NM_198494 NP_940896 Q49AA0 ZN642_HUMAN zinc finger protein 642 33 SCAN box. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;8.81e-19) CCCTGTGGGAGGATGTGACTA 0.532 FLG 2312 broad.mit.edu 37 1 152275826 152275826 + Missense_Mutation SNP C T T rs143233744 TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr1:152275826C>T uc001ezu.1 - 3 11572 c.11536G>A c.(11536-11538)GGC>AGC p.G3846S NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3846 Filaggrin 23.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCACCCTGGCCGGACTGTGAG 0.592 Ichthyosis FLG 2312 broad.mit.edu 37 1 152275878 152275878 + Silent SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr1:152275878C>T uc001ezu.1 - 3 11520 c.11484G>A c.(11482-11484)TCG>TCA p.S3828S NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3828 Filaggrin 23.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATGGTGACGCGACCCTGAGT 0.587 Ichthyosis SPTA1 6708 broad.mit.edu 37 1 158627401 158627401 + Nonsense_Mutation SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr1:158627401G>A uc001fst.1 - 19 2870 c.2671C>T c.(2671-2673)CGA>TGA p.R891* NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 891 Spectrin 9. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCATTTTGTCGCCTAGCAGCT 0.463 SPTA1 6708 broad.mit.edu 37 1 158637763 158637763 + Missense_Mutation SNP C G G TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr1:158637763C>G uc001fst.1 - 15 2122 c.1923G>C c.(1921-1923)CAG>CAC p.Q641H NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 641 Spectrin 7. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GGCCAGTTTTCTGTATGTTTT 0.473 ARMC3 219681 broad.mit.edu 37 10 23321938 23321938 + Missense_Mutation SNP G T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr10:23321938G>T uc001irm.3 + 18 2478 c.2395G>T c.(2395-2397)GCT>TCT p.A799S ARMC3_uc010qcv.1_Missense_Mutation_p.A792S|ARMC3_uc010qcw.1_Missense_Mutation_p.A536S NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 799 binding 0 CTACCATCGAGCTTTGCTTTT 0.353 C10orf119 79892 broad.mit.edu 37 10 121600464 121600464 + Missense_Mutation SNP C A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr10:121600464C>A uc001ler.2 - 11 1437 c.1139G>T c.(1138-1140)AGA>ATA p.R380I C10orf119_uc001leq.1_Missense_Mutation_p.R205I|C10orf119_uc001les.1_Missense_Mutation_p.R205I NM_024834 NP_079110 Q9BTE3 MCMBP_HUMAN chromosome 10 open reading frame 119 380 cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion nucleus chromatin binding 0 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.0044) GACATCTCTTCTTGTATATCT 0.328 CHRNA10 57053 broad.mit.edu 37 11 3690464 3690464 + Silent SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr11:3690464G>A uc001lyf.2 - 3 396 c.324C>T c.(322-324)AGC>AGT p.S108S CHRNA10_uc010qxt.1_5'UTR|CHRNA10_uc010qxu.1_5'UTR NM_020402 NP_065135 Q9GZZ6 ACH10_HUMAN cholinergic receptor, nicotinic, alpha 10 108 Extracellular (Potential). elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic cell junction|postsynaptic membrane calcium channel activity|receptor activity|receptor binding ovary(1) 1 Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577) BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192) Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116) ACACAAGACTGCTGGGGATGC 0.567 MICAL2 9645 broad.mit.edu 37 11 12241780 12241780 + Silent SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr11:12241780G>A uc001mjz.2 + 9 1269 c.981G>A c.(979-981)GCG>GCA p.A327A MICAL2_uc010rch.1_Silent_p.A327A|MICAL2_uc001mka.2_Silent_p.A327A|MICAL2_uc010rci.1_Silent_p.A327A|MICAL2_uc001mkb.2_Silent_p.A327A|MICAL2_uc001mkc.2_Silent_p.A327A|MICAL2_uc001mkd.2_Silent_p.A156A|MICAL2_uc010rcj.1_5'Flank NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin 327 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) TGCTGTGTGCGGAGAACGTGA 0.527 PYGM 5837 broad.mit.edu 37 11 64514249 64514249 + Missense_Mutation SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr11:64514249C>T uc001oax.3 - 20 3228 c.2411G>A c.(2410-2412)CGG>CAG p.R804Q RASGRP2_uc009ypu.2_5'Flank|RASGRP2_uc009ypv.2_5'Flank|RASGRP2_uc009ypw.2_5'Flank|RASGRP2_uc001oaw.1_5'Flank|PYGM_uc001oay.3_Missense_Mutation_p.R716Q NM_005609 NP_005600 P11217 PYGM_HUMAN muscle glycogen phosphorylase isoform 1 804 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding ovary(2) 2 Pyridoxal Phosphate(DB00114) GGCTATGTTCCGGATCACCAT 0.607 PDGFD 80310 broad.mit.edu 37 11 103780460 103780460 + Nonsense_Mutation SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr11:103780460G>A uc001phq.2 - 7 1447 c.1075C>T c.(1075-1077)CGA>TGA p.R359* PDGFD_uc001php.2_Nonsense_Mutation_p.R353* NM_025208 NP_079484 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D isoform 1 359 positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity upper_aerodigestive_tract(1)|large_intestine(1) 2 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) CAATCACATCGTTCATGGTGA 0.448 NLRX1 79671 broad.mit.edu 37 11 119054075 119054075 + Missense_Mutation SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr11:119054075G>A uc001pvu.2 + 10 3070 c.2855G>A c.(2854-2856)CGC>CAC p.R952H NLRX1_uc001pvv.2_Intron|NLRX1_uc001pvw.2_Missense_Mutation_p.R952H|NLRX1_uc001pvx.2_Missense_Mutation_p.R952H|PDZD3_uc001pvy.2_5'Flank|PDZD3_uc001pvz.2_5'Flank|PDZD3_uc010rzd.1_5'Flank|PDZD3_uc001pwa.2_5'Flank|PDZD3_uc001pwb.2_5'Flank NM_024618 NP_078894 Q86UT6 NLRX1_HUMAN NLR family member X1 isoform 1 952 Required for the repression of MAVS- induced interferon signaling. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding ovary(1)|skin(1) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) AATCCTTGGCGCAAGGCCCAG 0.637 ARHGAP32 9743 broad.mit.edu 37 11 128910863 128910863 + Missense_Mutation SNP T A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr11:128910863T>A uc009zcp.2 - 10 963 c.963A>T c.(961-963)CAA>CAT p.Q321H ARHGAP32_uc009zcq.1_Missense_Mutation_p.Q281H|ARHGAP32_uc001qfb.2_Missense_Mutation_p.Q106H NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 321 SH3. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 GGGGAACTTTTTGGTTAATTA 0.393 KLRG1 10219 broad.mit.edu 37 12 9142272 9142272 + Missense_Mutation SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr12:9142272C>T uc001qvh.2 + 1 52 c.41C>T c.(40-42)ACG>ATG p.T14M KLRG1_uc001qvg.2_Missense_Mutation_p.T14M NM_005810 NP_005801 Q96E93 KLRG1_HUMAN killer cell lectin-like receptor subfamily G, 14 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response integral to membrane receptor activity|sugar binding central_nervous_system(1) 1 GAGTTGCCTACGGCAACCCAA 0.413 KIF5A 3798 broad.mit.edu 37 12 57963411 57963411 + Silent SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr12:57963411G>A uc001sor.1 + 11 1270 c.1062G>A c.(1060-1062)AAG>AAA p.K354K KIF5A_uc010srr.1_Silent_p.K265K NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 354 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 agaagacaaaggcccagaagg 0.423 OS9 10956 broad.mit.edu 37 12 58109576 58109576 + Missense_Mutation SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr12:58109576G>A uc001spj.2 + 6 672 c.613G>A c.(613-615)GAC>AAC p.D205N OS9_uc010srx.1_Intron|OS9_uc001spk.2_Missense_Mutation_p.D205N|OS9_uc001spl.2_Missense_Mutation_p.D205N|OS9_uc001spm.2_Missense_Mutation_p.D205N|OS9_uc001spn.2_Missense_Mutation_p.D205N|OS9_uc010sry.1_Missense_Mutation_p.D172N|OS9_uc010srz.1_Missense_Mutation_p.D146N NM_006812 NP_006803 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum 205 ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding ovary(1) 1 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) TATCTCTGGGGACTACATCGA 0.517 AVIL 10677 broad.mit.edu 37 12 58204641 58204641 + Silent SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr12:58204641G>A uc001sqj.1 - 5 545 c.516C>T c.(514-516)ATC>ATT p.I172I AVIL_uc009zqe.1_Silent_p.I165I|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.3_Silent_p.I149I NM_006576 NP_006567 O75366 AVIL_HUMAN advillin 172 Gelsolin-like 2.|Core (By similarity). actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development actin cytoskeleton|axon|cytoplasm actin binding central_nervous_system(1) 1 Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) CATTCCATTGGATGATGACTT 0.502 LRIG3 121227 broad.mit.edu 37 12 59268350 59268351 + Frame_Shift_Ins INS - G G TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr12:59268350_59268351insG uc001sqr.2 - 17 2946_2947 c.2700_2701insC c.(2698-2703)ACCTGCfs p.T900fs LRIG3_uc009zqh.2_Frame_Shift_Ins_p.T840fs|LRIG3_uc010ssh.1_RNA NM_153377 NP_700356 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like 900_901 integral to membrane skin(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;1.17e-18) TCAATATGGCAGGTCCCTTTGA 0.401 ACIN1 22985 broad.mit.edu 37 14 23564497 23564497 + Translation_Start_Site SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr14:23564497G>A uc001wit.3 - 1 327 c.-1C>T c.(-3-1)AACGA>AATGA ACIN1_uc010akg.2_Translation_Start_Site|ACIN1_uc010tnj.1_Translation_Start_Site|C14orf119_uc001wiu.2_5'Flank NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TCTCCACATCGTTACCAATCA 0.542 MYH6 4624 broad.mit.edu 37 14 23857466 23857466 + Silent SNP G C C TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr14:23857466G>C uc001wjv.2 - 30 4324 c.4257C>G c.(4255-4257)ACC>ACG p.T1419T NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 1419 Potential. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GCCGGTGCTTGGTCTTCTCCA 0.572 KCNH5 27133 broad.mit.edu 37 14 63468087 63468087 + Missense_Mutation SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr14:63468087G>A uc001xfx.2 - 4 446 c.395C>T c.(394-396)ACG>ATG p.T132M KCNH5_uc001xfy.2_Missense_Mutation_p.T132M|KCNH5_uc001xfz.1_Missense_Mutation_p.T74M|KCNH5_uc001xga.2_Missense_Mutation_p.T74M NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 132 PAC.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TTTGAACAACGTAATATCCTT 0.343 LTBP2 4053 broad.mit.edu 37 14 74971518 74971518 + Silent SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr14:74971518C>T uc001xqa.2 - 30 4803 c.4416G>A c.(4414-4416)GTG>GTA p.V1472V NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 1472 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) AGGCTCCTTCCACAGGAATGT 0.562 STON2 85439 broad.mit.edu 37 14 81744722 81744722 + Silent SNP T G G TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr14:81744722T>G uc010tvu.1 - 4 1134 c.933A>C c.(931-933)GCA>GCC p.A311A STON2_uc001xvk.1_Silent_p.A311A|STON2_uc010tvt.1_Silent_p.A108A NM_033104 NP_149095 Q8WXE9 STON2_HUMAN stonin 2 311 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding skin(3)|pancreas(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.0348) AAGGGTTGGTTGCCCTCCAAG 0.498 KIAA1409 57578 broad.mit.edu 37 14 94069684 94069684 + Missense_Mutation SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr14:94069684G>A uc001ybv.1 + 23 3226 c.3143G>A c.(3142-3144)CGT>CAT p.R1048H KIAA1409_uc001ybs.1_Missense_Mutation_p.R1048H NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1225 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) AAGAGTGTACGTTCCCTGAGG 0.527 SERPINA12 145264 broad.mit.edu 37 14 94953697 94953697 + Silent SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr14:94953697G>A uc001ydj.2 - 6 1984 c.1188C>T c.(1186-1188)AGC>AGT p.S396S NM_173850 NP_776249 Q8IW75 SPA12_HUMAN serine (or cysteine) proteinase inhibitor, clade 396 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(2)|ovary(1)|lung(1) 4 COAD - Colon adenocarcinoma(157;0.235) GTATTTTCTCGCTGTAAATCA 0.527 AHNAK2 113146 broad.mit.edu 37 14 105411658 105411658 + Missense_Mutation SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr14:105411658G>A uc010axc.1 - 7 10250 c.10130C>T c.(10129-10131)CCG>CTG p.P3377L AHNAK2_uc001ypx.2_Missense_Mutation_p.P3277L NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3377 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GTGGCCCTCCGGGAGCTTCAC 0.637 SHC4 399694 broad.mit.edu 37 15 49217141 49217141 + Missense_Mutation SNP C A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr15:49217141C>A uc001zxb.1 - 2 1020 c.591G>T c.(589-591)ATG>ATT p.M197I NM_203349 NP_976224 Q6S5L8 SHC4_HUMAN rai-like protein 197 PID. 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) CAACACAGCCCATGTACTACA 0.413 MYO5C 55930 broad.mit.edu 37 15 52537563 52537563 + Silent SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr15:52537563G>A uc010bff.2 - 18 2303 c.2166C>T c.(2164-2166)CAC>CAT p.H722H MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA NM_018728 NP_061198 Q9NQX4 MYO5C_HUMAN myosin VC 722 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2) 14 all cancers(107;0.0137) GGATGAGTCTGTGTAAAACCA 0.483 CD276 80381 broad.mit.edu 37 15 73994767 73994767 + Missense_Mutation SNP A G G TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr15:73994767A>G uc002avv.1 + 3 485 c.251A>G c.(250-252)GAC>GGC p.D84G CD276_uc010bjd.1_5'UTR|CD276_uc002avu.1_Missense_Mutation_p.D84G|CD276_uc002avw.1_Missense_Mutation_p.D84G|CD276_uc010ulb.1_Missense_Mutation_p.D30G|CD276_uc002avx.2_5'Flank NM_001024736 NP_001019907 Q5ZPR3 CD276_HUMAN CD276 antigen isoform a 84 Ig-like V-type 1.|Extracellular (Potential). cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation external side of plasma membrane|integral to membrane receptor binding skin(1) 1 GAGGGCCAGGACCAGGGCAGC 0.647 CIITA 4261 broad.mit.edu 37 16 11004047 11004047 + Missense_Mutation SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr16:11004047C>T uc002dai.3 + 13 2952 c.2819C>T c.(2818-2820)ACG>ATG p.T940M CIITA_uc002daj.3_Missense_Mutation_p.T941M|CIITA_uc002dak.3_Missense_Mutation_p.T356M|CIITA_uc010bup.1_Nonsense_Mutation_p.R337* NM_000246 NP_000237 P33076 C2TA_HUMAN class II transactivator 940 Missing (in BLS2). interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1) 1 CTCTCCAGGACGAGAAGTTCC 0.572 T FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75 PMBL|Hodgkin Lymphona| IL4R 3566 broad.mit.edu 37 16 27373866 27373866 + Missense_Mutation SNP G C C TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr16:27373866G>C uc002don.2 + 11 1435 c.1193G>C c.(1192-1194)GGA>GCA p.G398A IL4R_uc002dop.3_Missense_Mutation_p.G383A|IL4R_uc010bxy.2_Missense_Mutation_p.G398A|IL4R_uc002doo.2_Missense_Mutation_p.G238A NM_000418 NP_000409 P24394 IL4RA_HUMAN interleukin 4 receptor alpha chain isoform a 398 Cytoplasmic (Potential). immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity ovary(1)|skin(1) 2 TTCCAGGAGGGAAGGGAGGGC 0.597 ELMO3 79767 broad.mit.edu 37 16 67235531 67235531 + Missense_Mutation SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr16:67235531G>A uc002esa.2 + 10 1106 c.1063G>A c.(1063-1065)GAC>AAC p.D355N ELMO3_uc002esb.2_Missense_Mutation_p.D338N|ELMO3_uc002esc.2_Missense_Mutation_p.D189N NM_024712 NP_078988 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 302 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) GACGCCCCTGGACCCCTACAG 0.612 RLTPR 146206 broad.mit.edu 37 16 67681849 67681849 + Silent SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr16:67681849C>T uc002etn.2 + 13 1179 c.1059C>T c.(1057-1059)TCC>TCT p.S353S RLTPR_uc010cel.1_Silent_p.S353S|RLTPR_uc010vjr.1_Silent_p.S353S NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 353 LRR 6. breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) TGGGGGCCTCCGAGGACAGTG 0.662 TP53 7157 broad.mit.edu 37 17 7578555 7578555 + Splice_Site SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr17:7578555C>T uc002gim.2 - 5 570 c.376_splice c.e5-1 p.Y126_splice TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.2_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.1_Splice_Site_p.Y87_splice NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 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.?(31)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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) CAGGGGAGTACTGTAGGAAGA 0.552 111 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) C17orf46 124783 broad.mit.edu 37 17 43332647 43332647 + Missense_Mutation SNP C T T rs144271763 TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr17:43332647C>T uc002iis.1 - 4 998 c.902G>A c.(901-903)CGC>CAC p.R301H LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Missense_Mutation_p.R280H NM_152343 NP_689556 Q96LK8 CQ046_HUMAN hypothetical protein LOC124783 301 large_intestine(1)|ovary(1) 2 TCTGGCTTCGCGTGGTTTCTC 0.567 SCN4A 6329 broad.mit.edu 37 17 62034852 62034852 + Silent SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr17:62034852C>T uc002jds.1 - 13 2123 c.2046G>A c.(2044-2046)TCG>TCA p.S682S NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 682 Helical; Voltage-sensor; Name=S4 of repeat II; (Potential).|II. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) GCGTTGGCCACGACTTGGCCA 0.592 EVPL 2125 broad.mit.edu 37 17 74011625 74011625 + Missense_Mutation SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr17:74011625C>T uc002jqi.2 - 15 2023 c.1795G>A c.(1795-1797)GTG>ATG p.V599M EVPL_uc010wss.1_Missense_Mutation_p.V621M|EVPL_uc010wst.1_Missense_Mutation_p.V69M NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 599 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 GCGGGGCCCACGGGCCGCGTG 0.647 SLC14A2 8170 broad.mit.edu 37 18 43262345 43262345 + Missense_Mutation SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr18:43262345C>T uc010dnj.2 + 21 2945 c.2624C>T c.(2623-2625)ACG>ATG p.T875M SLC14A2_uc002lbe.2_Missense_Mutation_p.T875M NM_007163 NP_009094 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), 875 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 CTGCTCCTGACGACCAATAAC 0.547 MUC16 94025 broad.mit.edu 37 19 9033637 9033637 + Silent SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr19:9033637G>A uc002mkp.2 - 9 36504 c.36300C>T c.(36298-36300)AAC>AAT p.N12100N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 12102 SEA 1.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TCTCTGTGGCGTTGAACTTCC 0.597 ZNF439 90594 broad.mit.edu 37 19 11978931 11978931 + Silent SNP T C C TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr19:11978931T>C uc002mss.2 + 3 1175 c.1047T>C c.(1045-1047)TCT>TCC p.S349S ZNF439_uc002msr.2_Silent_p.S213S NM_152262 NP_689475 Q8NDP4 ZN439_HUMAN zinc finger protein 439 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GAATGCACTCTGGAGAAAGAC 0.373 SLC1A6 6511 broad.mit.edu 37 19 15083572 15083572 + Missense_Mutation SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr19:15083572G>A uc002naa.1 - 1 159 c.151C>T c.(151-153)CGC>TGC p.R51C SLC1A6_uc010dzu.1_Missense_Mutation_p.R51C|SLC1A6_uc010xod.1_Missense_Mutation_p.A55V|SLC1A6_uc002nab.2_Missense_Mutation_p.R51C|SLC1A6_uc002nac.2_Missense_Mutation_p.R51C|SLC1A6_uc002nad.1_Missense_Mutation_p.R51C NM_005071 NP_005062 P48664 EAA4_HUMAN solute carrier family 1 (high affinity 51 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(3)|ovary(2)|skin(1) 6 L-Glutamic Acid(DB00142) CGCAGGAAGCGCAGCACGTGC 0.677 CYP2A13 1553 broad.mit.edu 37 19 41597756 41597756 + Silent SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr19:41597756G>A uc002opt.2 + 5 783 c.774G>A c.(772-774)ACG>ACA p.T258T NM_000766 NP_000757 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, 258 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding ovary(2)|skin(1) 3 Clomipramine(DB01242)|Nicotine(DB00184) ACCAGCGCACGCTGGATCCCA 0.587 ATP1A3 478 broad.mit.edu 37 19 42489240 42489240 + Missense_Mutation SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr19:42489240C>T uc002osg.2 - 8 977 c.823G>A c.(823-825)GCC>ACC p.A275T ATP1A3_uc010xwf.1_Missense_Mutation_p.A286T|ATP1A3_uc010xwg.1_Missense_Mutation_p.A245T|ATP1A3_uc010xwh.1_Missense_Mutation_p.A288T|ATP1A3_uc002osh.2_Missense_Mutation_p.A275T NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 275 Cytoplasmic (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 ATCTCGATGGCGATGGGCGTC 0.632 ZNF324 25799 broad.mit.edu 37 19 58982200 58982200 + Missense_Mutation SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr19:58982200G>A uc002qsw.1 + 4 435 c.341G>A c.(340-342)GGT>GAT p.G114D ZNF324_uc002qsx.1_5'Flank NM_014347 NP_055162 O75467 Z324A_HUMAN zinc finger protein 324 114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CCTGTTGCCGGTGCCTGCCAC 0.567 C2orf65 130951 broad.mit.edu 37 2 74842218 74842218 + Missense_Mutation SNP T C C TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr2:74842218T>C uc002smy.2 - 3 416 c.299A>G c.(298-300)CAG>CGG p.Q100R C2orf65_uc010ysa.1_Missense_Mutation_p.Q100R|C2orf65_uc002smz.2_Missense_Mutation_p.Q100R NM_138804 NP_620159 Q8TC57 CB065_HUMAN hypothetical protein LOC130951 100 chromatin assembly|female gamete generation|RNA processing|spermatogenesis integral to membrane ovary(1)|pancreas(1) 2 CCCTTCTCTCTGTAACATGCG 0.483 IL18RAP 8807 broad.mit.edu 37 2 103039783 103039783 + Nonsense_Mutation SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr2:103039783C>T uc002tbx.2 + 3 530 c.46C>T c.(46-48)CGA>TGA p.R16* IL18RAP_uc010fiz.2_5'UTR NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 16 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 TGCAGGAGAGCGAATTAAAGG 0.408 ACOXL 55289 broad.mit.edu 37 2 111850527 111850527 + Missense_Mutation SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr2:111850527C>T uc002tgr.3 + 18 1840 c.1616C>T c.(1615-1617)ACG>ATG p.T539M ACOXL_uc010fkc.2_Missense_Mutation_p.T509M|ACOXL_uc010yxk.1_Missense_Mutation_p.T509M NM_001105516 NP_001098986 Q9NUZ1 ACOXL_HUMAN acyl-Coenzyme A oxidase-like 2 539 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity 0 ATGGCCAGCACGAGGATCAGG 0.483 ABCA12 26154 broad.mit.edu 37 2 215855594 215855594 + Silent SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr2:215855594C>T uc002vew.2 - 24 3676 c.3456G>A c.(3454-3456)TCG>TCA p.S1152S ABCA12_uc002vev.2_Silent_p.S834S|ABCA12_uc010zjn.1_Silent_p.S79S NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 1152 Helical; (Potential). 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) AGCTGTAGTCCGAAAAATACA 0.388 GLB1L 79411 broad.mit.edu 37 2 220108249 220108249 + Missense_Mutation SNP A T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr2:220108249A>T uc002vkm.2 - 2 286 c.47T>A c.(46-48)CTC>CAC p.L16H GLB1L_uc010zkx.1_Missense_Mutation_p.L16H|GLB1L_uc002vkn.2_Missense_Mutation_p.L16H|STK16_uc002vko.2_5'Flank|STK16_uc002vks.2_5'Flank|STK16_uc010zky.1_5'Flank|STK16_uc010fwf.2_5'Flank|STK16_uc002vkp.2_5'Flank|STK16_uc002vkr.2_5'Flank|STK16_uc002vkq.2_5'Flank NM_024506 NP_078782 Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like precursor 16 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds 0 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGTCAGGCTGAGCGGCAGCAG 0.612 ACSL3 2181 broad.mit.edu 37 2 223781199 223781199 + Missense_Mutation SNP A G G TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr2:223781199A>G uc002vni.2 + 5 992 c.541A>G c.(541-543)ATG>GTG p.M181V ACSL3_uc002vnj.2_Missense_Mutation_p.M181V NM_004457 NP_004448 O95573 ACSL3_HUMAN acyl-CoA synthetase long-chain family member 3 181 Cytoplasmic (Potential). long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding ovary(2) 2 Renal(207;0.0183) Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864) Icosapent(DB00159) GGCGTGTTTTATGTATAATTT 0.383 T ETV1 prostate UGT1A5 54579 broad.mit.edu 37 2 234681031 234681031 + Silent SNP C T T rs28900406 byFrequency TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr2:234681031C>T uc002vuw.2 + 5 1431 c.1431C>T c.(1429-1431)CCC>CCT p.P477P UGT1A8_uc002vup.2_Silent_p.P473P|UGT1A10_uc002vur.2_Silent_p.P473P|UGT1A9_uc002vus.2_Silent_p.P473P|UGT1A7_uc002vut.2_Silent_p.P473P|UGT1A6_uc002vuu.2_Silent_p.P208P|UGT1A6_uc002vuv.3_Silent_p.P475P|UGT1A4_uc002vux.2_Silent_p.P477P|UGT1A3_uc002vuy.2_Silent_p.P477P|UGT1A9_uc002vva.2_RNA|UGT1A1_uc002vvb.2_Silent_p.P476P NM_019078 NP_061951 P35504 UD15_HUMAN UDP glycosyltransferase 1 family, polypeptide A5 477 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) ACCTGCGCCCCGCAGCCCACG 0.602 KIF16B 55614 broad.mit.edu 37 20 16254013 16254013 + Missense_Mutation SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr20:16254013G>A uc002wpg.1 - 26 3997 c.3839C>T c.(3838-3840)ACA>ATA p.T1280I KIF16B_uc002wpe.1_Missense_Mutation_p.T632I|KIF16B_uc002wpf.1_Missense_Mutation_p.T621I|KIF16B_uc010gch.1_Missense_Mutation_p.T1229I NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 1280 PX. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 GAGGGGAGATGTTGCGGACTG 0.398 SEC23B 10483 broad.mit.edu 37 20 18507120 18507120 + Missense_Mutation SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr20:18507120G>A uc002wqz.1 + 8 1381 c.938G>A c.(937-939)CGT>CAT p.R313H SEC23B_uc002wra.1_Missense_Mutation_p.R313H|SEC23B_uc002wrb.1_Missense_Mutation_p.R313H|SEC23B_uc010zsb.1_Missense_Mutation_p.R295H|SEC23B_uc002wrc.1_Missense_Mutation_p.R313H NM_006363 NP_006354 Q15437 SC23B_HUMAN Sec23 homolog B 313 R -> H. ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding ovary(1) 1 ATTCCTATTCGTTCTTGGCAT 0.458 FAM83D 81610 broad.mit.edu 37 20 37555323 37555325 + In_Frame_Del DEL GCG - - TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr20:37555323_37555325delGCG uc002xjg.2 + 1 369_371 c.328_330delGCG c.(328-330)GCGdel p.A116del FAM83D_uc002xjf.2_In_Frame_Del_p.A116del NM_030919 NP_112181 Q9H4H8 FA83D_HUMAN hypothetical protein LOC81610 86 Poly-Ala. cell division|mitosis cytoplasm|spindle pole ovary(3) 3 Myeloproliferative disorder(115;0.00878) AGAGGAGGGCgcggcggcggcgg 0.621 SLC12A5 57468 broad.mit.edu 37 20 44674611 44674611 + Missense_Mutation SNP A G G TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr20:44674611A>G uc010zxl.1 + 13 1809 c.1733A>G c.(1732-1734)GAC>GGC p.D578G SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.D555G NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 578 Helical; (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GCATCCCTCGACGAGGTGGCC 0.597 NFATC2 4773 broad.mit.edu 37 20 50159018 50159018 + Silent SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr20:50159018C>T uc002xwd.2 - 1 241 c.21G>A c.(19-21)CAG>CAA p.Q7Q NFATC2_uc002xwc.2_Silent_p.Q7Q|NFATC2_uc010zyv.1_5'UTR|NFATC2_uc010zyw.1_5'UTR|NFATC2_uc010zyx.1_Intron|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Intron NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 7 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) CGGGTTGGGGCTGCCGCTCGG 0.582 OPRL1 4987 broad.mit.edu 37 20 62729401 62729401 + Silent SNP C T T rs143380233 TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr20:62729401C>T uc002yic.2 + 4 882 c.480C>T c.(478-480)GAC>GAT p.D160D OPRL1_uc002yid.2_Silent_p.D160D|OPRL1_uc002yif.3_Silent_p.D155D NM_182647 NP_872588 P41146 OPRX_HUMAN opiate receptor-like 1 160 Cytoplasmic (Potential). elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|skin(1) 2 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) GTGCCCTCGACGTCCGCACGT 0.587 ITSN1 6453 broad.mit.edu 37 21 35231057 35231057 + Missense_Mutation SNP A C C TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr21:35231057A>C uc002yta.1 + 31 4119 c.3851A>C c.(3850-3852)AAC>ACC p.N1284T DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.N1279T|ITSN1_uc002ytj.2_Missense_Mutation_p.N1279T|ITSN1_uc010gmm.1_RNA NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 1284 DH. 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 ATTTTTGTGAACTGGAAGGAG 0.453 IGSF5 150084 broad.mit.edu 37 21 41137664 41137664 + Silent SNP C T T rs145170006 TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr21:41137664C>T uc002yyo.2 + 3 406 c.303C>T c.(301-303)GGC>GGT p.G101G NM_001080444 NP_001073913 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily 5 like 101 Ig-like V-type 1.|Extracellular (Potential). integral to membrane|tight junction 0 Prostate(19;5.35e-06) ACGACCAGGGCGGGAACTTCA 0.557 ITGB2 3689 broad.mit.edu 37 21 46320382 46320382 + Silent SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr21:46320382G>A uc002zgd.2 - 6 794 c.750C>T c.(748-750)ATC>ATT p.I250I ITGB2_uc002zge.2_Silent_p.I250I|ITGB2_uc002zgf.3_Silent_p.I250I|ITGB2_uc011afl.1_Silent_p.I172I|ITGB2_uc010gpw.2_Silent_p.I193I|ITGB2_uc002zgg.2_Silent_p.I250I NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 250 Extracellular (Potential).|VWFA. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) TGCGCCAGCCGATTTCCTCCT 0.647 SEC14L3 266629 broad.mit.edu 37 22 30856050 30856050 + Silent SNP G A A rs116181219 by1000genomes TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr22:30856050G>A uc003ahy.2 - 12 1250 c.1161C>T c.(1159-1161)GAC>GAT p.D387D SEC14L3_uc003ahz.2_Silent_p.D310D|SEC14L3_uc003aia.2_Silent_p.D328D|SEC14L3_uc003aib.2_Silent_p.D328D NM_174975 NP_777635 Q9UDX4 S14L3_HUMAN SEC14-like 3 387 integral to membrane|intracellular lipid binding|transporter activity ovary(3)|pancreas(1)|skin(1) 5 Vitamin E(DB00163) GCATGCCCTCGTCAGGGAGCA 0.502 PES1 23481 broad.mit.edu 37 22 30980618 30980618 + Missense_Mutation SNP T C C TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr22:30980618T>C uc003aij.1 - 5 529 c.455A>G c.(454-456)AAG>AGG p.K152R PES1_uc003aik.1_Missense_Mutation_p.K152R|PES1_uc003ail.1_Missense_Mutation_p.K152R|PES1_uc003aim.1_Missense_Mutation_p.K152R|PES1_uc003ain.1_Missense_Mutation_p.K13R|PES1_uc003aio.1_Missense_Mutation_p.K13R NM_014303 NP_055118 O00541 PESC_HUMAN pescadillo homolog 1, containing BRCT domain 152 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding 0 CACGTGGCACTTGCCAGTCCG 0.612 CYP8B1 1582 broad.mit.edu 37 3 42916203 42916203 + Missense_Mutation SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr3:42916203G>A uc003cmh.2 - 1 1431 c.1106C>T c.(1105-1107)TCC>TTC p.S369F CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.S369F NM_004391 NP_004382 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, 369 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) CTGCCCACTGGACATCTTCAG 0.592 ACY1 95 broad.mit.edu 37 3 52020670 52020670 + Silent SNP T C C TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr3:52020670T>C uc003dcp.2 + 8 637 c.576T>C c.(574-576)AGT>AGC p.S192S ACY1_uc011bea.1_Silent_p.S282S|ACY1_uc011beb.1_Silent_p.S192S|ACY1_uc003dcq.2_Silent_p.S192S NM_000666 NP_000657 Q03154 ACY1_HUMAN aminoacylase 1 192 cellular amino acid metabolic process|proteolysis cytosol aminoacylase activity|metal ion binding|metallopeptidase activity breast(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) L-Aspartic Acid(DB00128) GTGAGCGGAGTCCCTGGTGTA 0.368 PIK3CA 5290 broad.mit.edu 37 3 178916881 178916881 + Missense_Mutation SNP T G G TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr3:178916881T>G uc003fjk.2 + 2 425 c.268T>G c.(268-270)TGT>GGT p.C90G NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 90 PI3K-ABD. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AAGACGACTTTGTGACCTTCG 0.373 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) ABCC5 10057 broad.mit.edu 37 3 183679309 183679309 + Missense_Mutation SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr3:183679309G>A uc003fmg.2 - 16 2534 c.2369C>T c.(2368-2370)CCG>CTG p.P790L ABCC5_uc011bqt.1_Missense_Mutation_p.P318L|ABCC5_uc010hxl.2_Missense_Mutation_p.P790L NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 790 integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CTCAACTGGCGGTGTCTCTCC 0.478 RAB28 9364 broad.mit.edu 37 4 13481054 13481054 + Nonsense_Mutation SNP C A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr4:13481054C>A uc003gmu.2 - 2 387 c.172G>T c.(172-174)GGA>TGA p.G58* RAB28_uc003gmt.2_Nonsense_Mutation_p.G58*|RAB28_uc011bwz.1_Nonsense_Mutation_p.G58*|RAB28_uc003gmv.2_RNA NM_001017979 NP_001017979 P51157 RAB28_HUMAN RAB28, member RAS oncogene family isoform 1 58 small GTPase mediated signal transduction plasma membrane GDP binding|GTP binding|GTPase activity ovary(1)|skin(1) 2 AGTCTCTTACCTGGCAATGTT 0.328 GABRA4 2557 broad.mit.edu 37 4 46966998 46966998 + Missense_Mutation SNP C A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr4:46966998C>A uc003gxg.2 - 8 1262 c.1123G>T c.(1123-1125)GCC>TCC p.A375S NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 375 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGCAGAGGGGCTTCAGGATGC 0.408 CDH12 1010 broad.mit.edu 37 5 21817224 21817224 + Missense_Mutation SNP C A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr5:21817224C>A uc010iuc.2 - 6 1290 c.832G>T c.(832-834)GTT>TTT p.V278F CDH12_uc011cno.1_Missense_Mutation_p.V238F|CDH12_uc003jgk.2_Missense_Mutation_p.V278F NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 278 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 GACTCAGGAACTTTCAAGTGG 0.363 HNSCC(59;0.17) HEATR7B2 133558 broad.mit.edu 37 5 41049447 41049447 + Missense_Mutation SNP A T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr5:41049447A>T uc003jmj.3 - 14 1926 c.1436T>A c.(1435-1437)ATG>AAG p.M479K HEATR7B2_uc003jmi.3_Missense_Mutation_p.M34K NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 479 binding ovary(6)|central_nervous_system(2) 8 CTCCTCTGCCATAATCAGAAT 0.463 MAP1B 4131 broad.mit.edu 37 5 71494424 71494424 + Missense_Mutation SNP G T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr5:71494424G>T uc003kbw.3 + 5 5483 c.5242G>T c.(5242-5244)GAT>TAT p.D1748Y MAP1B_uc010iyw.1_Missense_Mutation_p.D1765Y|MAP1B_uc010iyx.1_Missense_Mutation_p.D1622Y|MAP1B_uc010iyy.1_Missense_Mutation_p.D1622Y NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1748 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) TCTCCAAGAAGATACTCTATC 0.478 LHFPL2 10184 broad.mit.edu 37 5 77784735 77784735 + Silent SNP C G G TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr5:77784735C>G uc003kfo.2 - 5 1348 c.672G>C c.(670-672)CTG>CTC p.L224L NM_005779 NP_005770 Q6ZUX7 LHPL2_HUMAN lipoma HMGIC fusion partner-like 2 224 integral to membrane 0 all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218) OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36) GGAGGCAGATCAGATTTTTCC 0.418 PKD2L2 27039 broad.mit.edu 37 5 137257377 137257377 + Missense_Mutation SNP C G G TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr5:137257377C>G uc003lby.2 + 9 1437 c.1381C>G c.(1381-1383)CAA>GAA p.Q461E PKD2L2_uc003lbw.1_Missense_Mutation_p.Q461E|PKD2L2_uc003lbx.2_Intron|PKD2L2_uc011cyi.1_Missense_Mutation_p.Q69E NM_014386 NP_055201 Q9NZM6 PK2L2_HUMAN polycystic kidney disease 2-like 2 461 Extracellular (Potential). integral to membrane calcium ion binding|ion channel activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TGGTATTCAGCAAGCCAATCC 0.308 PCDHB18 54660 broad.mit.edu 37 5 140615968 140615968 + Silent SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr5:140615968G>A uc003ljc.1 + 1 2031 c.1683G>A c.(1681-1683)CTG>CTA p.L561L NR_001281 SubName: Full=Similar to protocadherin-3 (Pcdh3); ovary(1) 1 AGCCCGGGCTGTTCGGCGTGT 0.697 ODZ2 57451 broad.mit.edu 37 5 167551889 167551889 + Silent SNP A G G TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr5:167551889A>G uc010jjd.2 + 11 2043 c.2043A>G c.(2041-2043)GGA>GGG p.G681G ODZ2_uc003lzr.3_Silent_p.G449G|ODZ2_uc003lzt.3_Silent_p.G45G|ODZ2_uc010jje.2_5'UTR|uc003lzs.1_Intron NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) CCAGCCACGGAGTCTGTGTGA 0.512 TRIM10 10107 broad.mit.edu 37 6 30126364 30126364 + Missense_Mutation SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr6:30126364C>T uc003npo.3 - 3 644 c.568G>A c.(568-570)GCA>ACA p.A190T TRIM10_uc003npn.2_Missense_Mutation_p.A190T NM_006778 NP_006769 Q9UDY6 TRI10_HUMAN tripartite motif-containing 10 isoform 1 190 cytoplasm zinc ion binding 0 CTCAGGTGTGCGAACTCAGAA 0.512 TAP2 6891 broad.mit.edu 37 6 32782142 32782142 + Missense_Mutation SNP G C C TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr6:32782142G>C uc011dqf.1 - 14 2541 c.2419C>G c.(2419-2421)CTT>GTT p.L807V HLA-DOB_uc003oca.2_Missense_Mutation_p.L200V|HLA-DOB_uc011dqg.1_Missense_Mutation_p.L200V NM_018833 NP_061313 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family Error:Variant_position_missing_in_Q03519_after_alignment antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding 0 TGATCGACAAGGCAGGTGTAG 0.502 DNAH8 1769 broad.mit.edu 37 6 38840400 38840400 + Missense_Mutation SNP A G G TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr6:38840400A>G uc003ooe.1 + 48 7028 c.6428A>G c.(6427-6429)AAG>AGG p.K2143R NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 ATTCTAATGAAGGCGCAAACA 0.453 KCNK5 8645 broad.mit.edu 37 6 39159464 39159464 + Silent SNP C A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr6:39159464C>A uc003oon.2 - 5 1066 c.702G>T c.(700-702)GGG>GGT p.G234G NM_003740 NP_003731 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 234 Helical; (Potential). excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 GCCAGGCCAGCCCCAAGTAGA 0.577 LRFN2 57497 broad.mit.edu 37 6 40360425 40360425 + Missense_Mutation SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr6:40360425C>T uc003oph.1 - 3 2092 c.1627G>A c.(1627-1629)GTG>ATG p.V543M NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 543 Helical; (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) AGCGTGGCCACGATGATGCCC 0.607 TREML1 340205 broad.mit.edu 37 6 41121571 41121571 + Missense_Mutation SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr6:41121571C>T uc011duc.1 - 2 345 c.301G>A c.(301-303)GAG>AAG p.E101K TREML1_uc003opx.2_Missense_Mutation_p.E101K|TREML1_uc011dud.1_Intron NM_178174 NP_835468 Q86YW5 TRML1_HUMAN triggering receptor expressed on myeloid 101 Ig-like V-type.|Extracellular (Potential). calcium-mediated signaling|innate immune response|platelet activation cell surface|integral to membrane|plasma membrane|platelet alpha granule protein binding|receptor activity breast(1) 1 Ovarian(28;0.0418)|Colorectal(47;0.196) CAGCCATACTCGCCAGCATCC 0.602 TDRD6 221400 broad.mit.edu 37 6 46658201 46658201 + Missense_Mutation SNP C G G TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr6:46658201C>G uc003oyj.2 + 1 2336 c.2336C>G c.(2335-2337)TCT>TGT p.S779C TDRD6_uc010jze.2_Missense_Mutation_p.S773C NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 779 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) GTCAGAGTGTCTTATGTTGAA 0.388 KIF25 3834 broad.mit.edu 37 6 168443352 168443352 + Missense_Mutation SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr6:168443352C>T uc003qwk.1 + 8 1203 c.941C>T c.(940-942)CCG>CTG p.P314L KIF25_uc003qwl.1_Intron NM_030615 NP_085118 Q9UIL4 KIF25_HUMAN kinesin family member 25 isoform 1 314 microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity ovary(1)|pancreas(1) 2 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GGCCATGCCCCGTACCGGAAC 0.652 ZDHHC4 55146 broad.mit.edu 37 7 6628405 6628405 + Missense_Mutation SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr7:6628405G>A uc003sqi.2 + 9 1257 c.899G>A c.(898-900)CGT>CAT p.R300H ZDHHC4_uc003sql.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqh.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqj.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqk.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqm.2_Missense_Mutation_p.R300H|uc011jwy.1_5'Flank|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank|C7orf26_uc003sqq.1_5'Flank NM_001134388 NP_001127860 Q9NPG8 ZDHC4_HUMAN zinc finger, DHHC-type containing 4 300 integral to membrane acyltransferase activity|zinc ion binding breast(1)|pancreas(1) 2 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.1) TGGTGCCAGCGTTGTCCCCTT 0.577 GHRHR 2692 broad.mit.edu 37 7 31014610 31014610 + Silent SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr7:31014610C>T uc003tbx.2 + 9 885 c.837C>T c.(835-837)TCC>TCT p.S279S GHRHR_uc003tbw.1_Silent_p.S279S|GHRHR_uc003tby.2_Silent_p.S215S|GHRHR_uc003tbz.2_Missense_Mutation_p.P46S NM_000823 NP_000814 Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 279 Extracellular (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding ovary(2)|lung(1)|breast(1)|large_intestine(1) 5 Sermorelin(DB00010) ACGACACCTCCCCCTACTGGT 0.587 OREG0017943 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SAMD9L 219285 broad.mit.edu 37 7 92765183 92765183 + Silent SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr7:92765183C>T uc003umh.1 - 5 1318 c.102G>A c.(100-102)GGG>GGA p.G34G SAMD9L_uc003umj.1_Silent_p.G34G|SAMD9L_uc003umi.1_Silent_p.G34G|SAMD9L_uc010lfb.1_Silent_p.G34G|SAMD9L_uc003umk.1_Silent_p.G34G|SAMD9L_uc010lfc.1_Silent_p.G34G|SAMD9L_uc010lfd.1_Silent_p.G34G|SAMD9L_uc011khx.1_Silent_p.G25G NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 34 SAM. ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) GCAGAATTTGCCCGTATTGCT 0.403 CNTNAP2 26047 broad.mit.edu 37 7 147844679 147844679 + Missense_Mutation SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr7:147844679G>A uc003weu.1 + 17 3167 c.2651G>A c.(2650-2652)CGG>CAG p.R884Q NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 884 Laminin G-like 3.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CAGTGGCACCGGGTCACTGCA 0.582 HNSCC(39;0.1) UBE3C 9690 broad.mit.edu 37 7 156963055 156963055 + Missense_Mutation SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr7:156963055G>A uc010lqs.2 + 4 565 c.253G>A c.(253-255)GCT>ACT p.A85T UBE3C_uc003wnf.2_Missense_Mutation_p.A42T|UBE3C_uc003wng.2_Missense_Mutation_p.A85T NM_014671 NP_055486 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 85 protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(2)|large_intestine(1) 5 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) GTCCGGGGGCGCTTTTCCCAT 0.398 ADAM28 10863 broad.mit.edu 37 8 24199261 24199261 + Silent SNP C T T rs149263503 byFrequency TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr8:24199261C>T uc003xdy.2 + 16 1904 c.1821C>T c.(1819-1821)GGC>GGT p.G607G ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Silent_p.G294G NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 isoform 1 607 Extracellular (Potential).|Cys-rich. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding skin(3)|lung(1)|central_nervous_system(1) 5 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CTAAGTGTGGCGATAACAAGG 0.408 PXDNL 137902 broad.mit.edu 37 8 52387699 52387699 + Missense_Mutation SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr8:52387699C>T uc003xqu.3 - 7 628 c.527G>A c.(526-528)CGT>CAT p.R176H NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 176 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GGAATCCAGACGCCTAGGCAT 0.468 C8orf38 137682 broad.mit.edu 37 8 96047748 96047748 + Missense_Mutation SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr8:96047748G>A uc003yhj.2 + 3 380 c.364G>A c.(364-366)GAA>AAA p.E122K C8orf38_uc003yhe.1_RNA|C8orf38_uc003yhf.2_Missense_Mutation_p.E30K|C8orf38_uc011lgs.1_RNA|C8orf38_uc003yhi.2_Missense_Mutation_p.E70K|C8orf38_uc003yhk.2_RNA|C8orf38_uc003yhl.2_Missense_Mutation_p.E30K NM_152416 NP_689629 Q330K2 CH038_HUMAN hypothetical protein LOC137682 precursor 122 biosynthetic process mitochondrion transferase activity 0 Breast(36;3.32e-06) AAAAACTGTGGAAGATATATA 0.328 PKHD1L1 93035 broad.mit.edu 37 8 110454293 110454293 + Missense_Mutation SNP C A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr8:110454293C>A uc003yne.2 + 35 4366 c.4262C>A c.(4261-4263)ACA>AAA p.T1421K NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1421 Extracellular (Potential).|IPT/TIG 7. 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) GTGGGGGACACAGTGGCATGG 0.418 HNSCC(38;0.096) DEPDC6 64798 broad.mit.edu 37 8 120977651 120977651 + Splice_Site SNP G T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr8:120977651G>T uc003yow.3 + 4 791 c.604_splice c.e4+1 p.V202_splice DEPDC6_uc011lid.1_Splice_Site_p.V101_splice NM_022783 NP_073620 Q8TB45 DPTOR_HUMAN DEP domain containing 6 intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding 0 Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) ATCCAGCATGGTGAGCgtatt 0.303 ADCY8 114 broad.mit.edu 37 8 132002709 132002709 + Missense_Mutation SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr8:132002709C>T uc003ytd.3 - 2 1296 c.1040G>A c.(1039-1041)CGC>CAC p.R347H ADCY8_uc010mds.2_Missense_Mutation_p.R347H NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 347 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GAAAGCTTGGCGCTGGGCCCG 0.522 HNSCC(32;0.087) ACO1 48 broad.mit.edu 37 9 32430435 32430435 + Missense_Mutation SNP G T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr9:32430435G>T uc003zqw.3 + 14 1744 c.1589G>T c.(1588-1590)GGA>GTA p.G530V ACO1_uc010mjh.1_Missense_Mutation_p.G364V|ACO1_uc003zqx.3_Missense_Mutation_p.G530V|ACO1_uc003zqy.3_RNA NM_002197 NP_002188 P21399 ACOC_HUMAN aconitase 1 530 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) GTAGCTGTTGGAGTACTATCT 0.453 DAPK1 1612 broad.mit.edu 37 9 90220082 90220082 + Silent SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr9:90220082C>T uc004apc.2 + 3 414 c.276C>T c.(274-276)ATC>ATT p.I92I DAPK1_uc004ape.2_Silent_p.I92I|DAPK1_uc004apd.2_Silent_p.I92I|DAPK1_uc011ltg.1_Silent_p.I92I|DAPK1_uc011lth.1_5'UTR NM_004938 NP_004929 P53355 DAPK1_HUMAN death-associated protein kinase 1 92 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity ovary(1)|breast(1) 2 TCATCCTGATCTTGGAACTGT 0.612 Chronic_Lymphocytic_Leukemia_Familial_Clustering_of SNX30 401548 broad.mit.edu 37 9 115580093 115580093 + Missense_Mutation SNP C G G TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr9:115580093C>G uc004bgj.3 + 3 605 c.457C>G c.(457-459)CCC>GCC p.P153A NM_001012994 NP_001013012 Q5VWJ9 SNX30_HUMAN sorting nexin family member 30 153 PX. cell communication|protein transport cytoplasm phosphatidylinositol binding 0 TCATCTCATTCCCGTAGGTAG 0.458 OR1J1 347168 broad.mit.edu 37 9 125239495 125239495 + Silent SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr9:125239495G>A uc011lyu.1 - 1 711 c.711C>T c.(709-711)GCC>GCT p.A237A OR1J2_uc004bmj.1_Intron NM_001004451 NP_001004451 Q8NGS3 OR1J1_HUMAN olfactory receptor, family 1, subfamily J, 237 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 AAGTGGACAAGGCTTTGCATA 0.468 SDCCAG3 10807 broad.mit.edu 37 9 139299619 139299619 + Missense_Mutation SNP A G G TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chr9:139299619A>G uc004chi.2 - 7 1134 c.929T>C c.(928-930)ATG>ACG p.M310T SDCCAG3_uc004chj.2_Missense_Mutation_p.M287T|SDCCAG3_uc004chk.2_Missense_Mutation_p.M237T NM_001039707 NP_001034796 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 310 Potential. cytoplasm 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) CTCCTTGATCATTTTTGCTTC 0.463 MXRA5 25878 broad.mit.edu 37 X 3235173 3235173 + Silent SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chrX:3235173C>T uc004crg.3 - 6 6706 c.6549G>A c.(6547-6549)CCG>CCA p.P2183P NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2183 Ig-like C2-type 6. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) TCCTCTTGGACGGCAGCCTCC 0.637 TLR7 51284 broad.mit.edu 37 X 12905182 12905182 + Missense_Mutation SNP C A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chrX:12905182C>A uc004cvc.2 + 3 1694 c.1555C>A c.(1555-1557)CTC>ATC p.L519I NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 519 Extracellular (Potential).|LRR 17. cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) TCTTTCTTTCCTCAAATGCCT 0.378 DDX53 168400 broad.mit.edu 37 X 23019720 23019720 + Missense_Mutation SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chrX:23019720G>A uc004daj.2 + 1 1634 c.1546G>A c.(1546-1548)GGA>AGA p.G516R NM_182699 NP_874358 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 516 Helicase C-terminal. nucleus ATP binding|ATP-dependent helicase activity|RNA binding large_intestine(1)|ovary(1)|kidney(1) 3 CTTTAAAAGCGGAAACATAAA 0.373 CXorf21 80231 broad.mit.edu 37 X 30577750 30577750 + Silent SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chrX:30577750C>T uc004dcg.1 - 3 999 c.723G>A c.(721-723)GCG>GCA p.A241A NM_025159 NP_079435 Q9HAI6 CX021_HUMAN hypothetical protein LOC80231 241 ovary(1) 1 TGAGTTCAGACGCCAGAATCT 0.438 GRIPAP1 56850 broad.mit.edu 37 X 48839756 48839756 + Missense_Mutation SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chrX:48839756G>A uc004dly.1 - 16 1404 c.1369C>T c.(1369-1371)CGG>TGG p.R457W GRIPAP1_uc004dlz.2_Missense_Mutation_p.R347W|GRIPAP1_uc004dma.2_Missense_Mutation_p.R404W NM_020137 NP_064522 Q4V328 GRAP1_HUMAN GRIP1 associated protein 1 isoform 1 457 Potential. early endosome breast(2)|kidney(1) 3 TTCTCATGCCGTAGACGAACT 0.597 ITIH5L 347365 broad.mit.edu 37 X 54785423 54785423 + Missense_Mutation SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chrX:54785423C>T uc004dtj.2 - 8 1114 c.1084G>A c.(1084-1086)GTC>ATC p.V362I NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 362 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 GCTGAGTTGACGTCTGTCCCT 0.547 ZXDA 7789 broad.mit.edu 37 X 57936065 57936065 + Missense_Mutation SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chrX:57936065C>T uc004dve.2 - 1 1003 c.790G>A c.(790-792)GTG>ATG p.V264M NM_007156 NP_009087 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 264 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 TACAGCACCACGCCTGGACCA 0.726 TAF1 6872 broad.mit.edu 37 X 70613222 70613222 + Silent SNP A C C TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chrX:70613222A>C uc004dzu.3 + 21 3171 c.3120A>C c.(3118-3120)GGA>GGC p.G1040G BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.G1061G|TAF1_uc004dzv.3_Silent_p.G214G NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 1040 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) CTCGTTCTGGAGAGGGGCCCA 0.448 ABCB7 22 broad.mit.edu 37 X 74291376 74291376 + Missense_Mutation SNP A T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chrX:74291376A>T uc004eca.2 - 9 1200 c.1175T>A c.(1174-1176)ATA>AAA p.I392K ABCB7_uc004ebz.2_Missense_Mutation_p.I393K|ABCB7_uc011mqn.1_Missense_Mutation_p.I366K|ABCB7_uc010nls.2_Missense_Mutation_p.I353K|ABCB7_uc010nlt.2_Missense_Mutation_p.I352K NM_004299 NP_004290 O75027 ABCB7_HUMAN ATP-binding cassette, sub-family B, member 7 392 ABC transmembrane type-1.|Helical; (Potential). cellular iron ion homeostasis integral to membrane|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity ovary(1) 1 GAGCACCATTATAGCTGTTAA 0.388 RPL36A 6173 broad.mit.edu 37 X 100646453 100646453 + Missense_Mutation SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chrX:100646453G>A uc004ehk.2 + 2 94 c.10G>A c.(10-12)GTC>ATC p.V4I BTK_uc010nno.2_5'Flank|RPL36A_uc004ehj.1_Missense_Mutation_p.V4I NM_021029 NP_066357 P83881 RL36A_HUMAN ribosomal protein L36a 4 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome protein binding|structural constituent of ribosome 0 CTAGGTTAACGTCCCTAAAAC 0.498 KIAA1210 57481 broad.mit.edu 37 X 118238988 118238988 + Missense_Mutation SNP C A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chrX:118238988C>A uc004era.3 - 7 1035 c.1035G>T c.(1033-1035)AAG>AAT p.K345N NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 345 ovary(4)|skin(1) 5 GTGGTAAAGCCTTCTTTTGTG 0.418 FRMD7 90167 broad.mit.edu 37 X 131219611 131219611 + Missense_Mutation SNP G A A TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chrX:131219611G>A uc004ewn.2 - 7 821 c.643C>T c.(643-645)CGG>TGG p.R215W FRMD7_uc011muy.1_Missense_Mutation_p.R200W NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 215 FERM. regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) GATTTTACCCGTAACACCAGT 0.512 ATP2B3 492 broad.mit.edu 37 X 152818620 152818620 + Missense_Mutation SNP C T T TCGA-41-5651-01A-01D-1696-08 TCGA-41-5651-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 5fd77ba9-5015-4d8b-86a0-582e5c76bdd6 54c65bdd-ac2e-466a-80cb-6f534095f56b g.chrX:152818620C>T uc004fht.1 + 11 2077 c.1951C>T c.(1951-1953)CGG>TGG p.R651W ATP2B3_uc004fhs.1_Missense_Mutation_p.R651W NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 651 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CATCGCCTACCGGGACTTCTC 0.632